Harmonizome 3.0

From Molecular Transducers of Physical Activity Consortium

RNA-seq gene expression profiles for rat tissue samples across 4 time points and 19 tissues

NADH dehydrogenase (ubiquinone) Fe-S protein 5, 15kDa (NADH-coenzyme Q reductase) pseudogene 3

NADH dehydrogenase (ubiquinone) Fe-S protein 5, 15kDa (NADH-coenzyme Q reductase) pseudogene 2

NADH dehydrogenase (ubiquinone) Fe-S protein 5, 15kDa (NADH-coenzyme Q reductase) pseudogene 7

NADH dehydrogenase (ubiquinone) Fe-S protein 5, 15kDa (NADH-coenzyme Q reductase) pseudogene 5

NADH dehydrogenase (ubiquinone) Fe-S protein 5, 15kDa (NADH-coenzyme Q reductase) pseudogene 4

NADH dehydrogenase (ubiquinone) Fe-S protein 5, 15kDa (NADH-coenzyme Q reductase) pseudogene 1

NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase)

The protein encoded by this gene belongs to the complex I 75 kDa subunit family. Mammalian complex I is composed of 45 different subunits. It locates at the mitochondrial inner membrane. This protein has NADH dehydrogenase activity and oxidoreductase activity. It transfers electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone. This protein is the largest subunit of complex I and it is a component of the iron-sulfur (IP) fragment of the enzyme. It may form part of the active site crevice where NADH is oxidized. Mutations in this gene are associated with complex I deficiency. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2011]

NADH dehydrogenase (ubiquinone) Fe-S protein 2, 49kDa (NADH-coenzyme Q reductase)

The protein encoded by this gene is a core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (complex I). Mammalian mitochondrial complex I is composed of at least 43 different subunits, 7 of which are encoded by the mitochondrial genome, and the rest are the products of nuclear genes. The iron-sulfur protein fraction of complex I is made up of 7 subunits, including this gene product. Complex I catalyzes the NADH oxidation with concomitant ubiquinone reduction and proton ejection out of the mitochondria. Mutations in this gene are associated with mitochondrial complex I deficiency. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Oct 2009]

NADH dehydrogenase (ubiquinone) Fe-S protein 3, 30kDa (NADH-coenzyme Q reductase)

This gene encodes one of the iron-sulfur protein (IP) components of mitochondrial NADH:ubiquinone oxidoreductase (complex I). Mutations in this gene are associated with Leigh syndrome resulting from mitochondrial complex I deficiency.[provided by RefSeq, Apr 2009]

NADH dehydrogenase (ubiquinone) Fe-S protein 4, 18kDa (NADH-coenzyme Q reductase)

This gene encodes an nuclear-encoded accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (complex I, or NADH:ubiquinone oxidoreductase). Complex I removes electrons from NADH and passes them to the electron acceptor ubiquinone. Mutations in this gene can cause mitochondrial complex I deficiencies such as Leigh syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]

NADH dehydrogenase (ubiquinone) Fe-S protein 5, 15kDa (NADH-coenzyme Q reductase)

This gene is a member of the NADH dehydrogenase (ubiquinone) iron-sulfur protein family. The encoded protein is a subunit of the NADH:ubiquinone oxidoreductase (complex I), the first enzyme complex in the electron transport chain located in the inner mitochondrial membrane. Alternative splicing results in multiple transcript variants and pseudogenes have been identified on chromosomes 1, 4 and 17. [provided by RefSeq, May 2010]

NADH dehydrogenase (ubiquinone) Fe-S protein 6, 13kDa (NADH-coenzyme Q reductase)

This gene encodes a subunit of the NADH:ubiquinone oxidoreductase (complex I), which is the first enzyme complex in the electron transport chain of mitochondria. This complex functions in the transfer of electrons from NADH to the respiratory chain. The subunit encoded by this gene is one of seven subunits in the iron-sulfur protein fraction. Mutations in this gene cause mitochondrial complex I deficiency, a disease that causes a wide variety of clinical disorders, including neonatal disease and adult-onset neurodegenerative disorders.[provided by RefSeq, Oct 2009]

NADH dehydrogenase (ubiquinone) Fe-S protein 7, 20kDa (NADH-coenzyme Q reductase)

This gene encodes a protein that is a subunit of one of the complexes that forms the mitochondrial respiratory chain. This protein is one of over 40 subunits found in complex I, the nicotinamide adenine dinucleotide (NADH):ubiquinone oxidoreductase. This complex functions in the transfer of electrons from NADH to the respiratory chain, and ubiquinone is believed to be the immediate electron acceptor for the enzyme. Mutations in this gene cause Leigh syndrome due to mitochondrial complex I deficiency, a severe neurological disorder that results in bilaterally symmetrical necrotic lesions in subcortical brain regions. [provided by RefSeq, Jul 2008]

NADH dehydrogenase (ubiquinone) Fe-S protein 8, 23kDa (NADH-coenzyme Q reductase)

This gene encodes a subunit of mitochondrial NADH:ubiquinone oxidoreductase, or Complex I, a multimeric enzyme of the respiratory chain responsible for NADH oxidation, ubiquinone reduction, and the ejection of protons from mitochondria. The encoded protein is involved in the binding of two of the six to eight iron-sulfur clusters of Complex I and, as such, is required in the electron transfer process. Mutations in this gene have been associated with Leigh syndrome. [provided by RefSeq, Mar 2010]

NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 3 pseudogene 3

NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 11, pseudogene 1

NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 3 pseudogene 1

NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 1 pseudogene 2

NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 4, 15kDa pseudogene 1

NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 12 pseudogene

NADH dehydrogenase (ubiquinone) complex I, assembly factor 1 pseudogene

NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 10, 22kDa pseudogene

NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 9, 22kDa pseudogene

NADH dehydrogenase (ubiquinone) flavoprotein 2 pseudogene 1

NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 11, 14.7kDa

This gene encodes a subunit of the membrane-bound mitochondrial complex I. Complex I is composed of numerous subunits and functions as the NADH-ubiquinol reductase of the mitochondrial electron transport chain. Mutations in this gene are associated with severe mitochondrial complex I deficiency. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Oct 2010]

NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 12

This gene encodes a protein which is part of mitochondrial complex 1, part of the oxidative phosphorylation system in mitochondria. Complex 1 transfers electrons to ubiquinone from NADH which establishes a proton gradient for the generation of ATP. Mutations in this gene are associated with Leigh syndrome due to mitochondrial complex 1 deficiency. Pseudogenes of this gene are located on chromosomes 5 and 13. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2012]

NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 13

This gene encodes a subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), which functions in the transfer of electrons from NADH to the respiratory chain. The protein is required for complex I assembly and electron transfer activity. The protein binds the signal transducers and activators of transcription 3 (STAT3) transcription factor, and can function as a tumor suppressor. The human protein purified from mitochondria migrates at approximately 16 kDa. Transcripts originating from an upstream promoter and capable of expressing a protein with a longer N-terminus have been found, but their biological validity has not been determined. [provided by RefSeq, Oct 2009]

NADH dehydrogenase (ubiquinone) complex I, assembly factor 2 pseudogene

NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 4, 9kDa pseudogene

NADH dehydrogenase (ubiquinone) complex I, assembly factor 5

The NADH-ubiquinone oxidoreductase complex (complex I) of the mitochondrial respiratory chain catalyzes the transfer of electrons from NADH to ubiquinone, and consists of at least 43 subunits. The complex is located in the inner mitochondrial membrane. This gene encodes a mitochondrial protein that is associated with the matrix face of the mitochondrial inner membrane and is required for complex I assembly. A mutation in this gene results in mitochondrial complex I deficiency. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]

NADH dehydrogenase (ubiquinone) complex I, assembly factor 4

NADH:ubiquinone oxidoreductase (complex I) catalyzes the transfer of electrons from NADH to ubiquinone (coenzyme Q) in the first step of the mitochondrial respiratory chain, resulting in the translocation of protons across the inner mitochondrial membrane. This gene encodes a complex I assembly factor. Mutations in this gene are a cause of mitochondrial complex I deficiency. [provided by RefSeq, Oct 2009]

NADH dehydrogenase (ubiquinone) complex I, assembly factor 7

This gene encodes an assembly factor protein which helps in the assembly and stabilization of Complex I, a large multi-subunit enzyme in the mitochondrial respiratory chain. Complex I is involved in several physiological activities in the cell, including metabolite transport and ATP synthesis. The encoded protein is a methyltransferase which methylates Arg85 of a subunit of Complex I in the early stages of its assembly. A pseudogene related to this gene is located on chromosome 8. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]

NADH dehydrogenase (ubiquinone) complex I, assembly factor 6

This gene encodes a protein that localizes to mitochondria and contains a predicted phytoene synthase domain. The encoded protein plays an important role in the assembly of complex I (NADH-ubiquinone oxidoreductase) of the mitochondrial respiratory chain through regulation of subunit ND1 biogenesis. Mutations in this gene are associated with complex I enzymatic deficiency. [provided by RefSeq, Nov 2011]

NADH dehydrogenase (ubiquinone) complex I, assembly factor 1

This gene encodes a complex I assembly factor protein. Complex I (NADH-ubiquinone oxidoreductase) catalyzes the transfer of electrons from NADH to ubiquinone (coenzyme Q) in the first step of the mitochondrial respiratory chain, resulting in the translocation of protons across the inner mitochondrial membrane. The encoded protein is required for assembly of complex I, and mutations in this gene are a cause of mitochondrial complex I deficiency. Alternatively spliced transcript variants have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 19. [provided by RefSeq, Dec 2011]

NADH dehydrogenase (ubiquinone) complex I, assembly factor 3

This gene encodes a mitochondrial complex I assembly protein that interacts with complex I subunits. Mutations in this gene cause mitochondrial complex I deficiency, a fatal neonatal disorder of the oxidative phosphorylation system. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2009]

NADH dehydrogenase (ubiquinone) complex I, assembly factor 2

NADH:ubiquinone oxidoreductase (complex I) catalyzes the transfer of electrons from NADH to ubiquinone (coenzyme Q) in the first step of the mitochondrial respiratory chain, resulting in the translocation of protons across the inner mitochondrial membrane. This gene encodes a complex I assembly factor. Mutations in this gene cause progressive encephalopathy resulting from mitochondrial complex I deficiency. [provided by RefSeq, Jul 2008]

NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 8, pseudogene 1

NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 8, pseudogene 3

NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 9, 22kDa pseudogene

NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 5 pseudogene

NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 4, 15kDa pseudogene 2

NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 3, 12kDa pseudogene 5

NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 9, 22kDa

The protein encoded by this gene is a subunit of the mitochondrial oxidative phosphorylation complex I (nicotinamide adenine dinucleotide: ubiquinone oxidoreductase). Complex I is localized to the inner mitochondrial membrane and functions to dehydrogenate nicotinamide adenine dinucleotide and to shuttle electrons to coenzyme Q. Complex I deficiency is the most common defect found in oxidative phosphorylation disorders and results in a range of conditions, including lethal neonatal disease, hypertrophic cardiomyopathy, liver disease, and adult-onset neurodegenerative disorders. Pseudogenes of this gene are found on chromosomes five, seven and eight. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2015]

NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 8, 19kDa

Predicted to enable NADH dehydrogenase (ubiquinone) activity. Involved in mitochondrial respiratory chain complex I assembly. Located in mitochondrion. Part of mitochondrial inner membrane and respiratory chain complex I. Implicated in nuclear type mitochondrial complex I deficiency 32. Biomarker of Alzheimer's disease and Parkinson's disease. [provided by Alliance of Genome Resources, Mar 2025]

NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 7, 18kDa

The protein encoded by this gene is a subunit of the multisubunit NADH:ubiquinone oxidoreductase (complex I). Mammalian complex I is composed of 45 different subunits. It is located at the mitochondrial inner membrane. This protein has NADH dehydrogenase activity and oxidoreductase activity. It transfers electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone. [provided by RefSeq, Jul 2008]

NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 6, 17kDa

The protein encoded by this gene is a subunit of the multisubunit NADH:ubiquinone oxidoreductase (complex I). Mammalian complex I is composed of 45 different subunits. It locates at the mitochondrial inner membrane. This protein has NADH dehydrogenase activity and oxidoreductase activity. It transfers electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone. Alternative splicing occurs at this locus and three transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Jan 2011]

NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 5, 16kDa

The protein encoded by this gene is a subunit of the multisubunit NADH:ubiquinone oxidoreductase (complex I). Mammalian complex I is composed of 45 different subunits. It locates at the mitochondrial inner membrane. This protein has NADH dehydrogenase activity and oxidoreductase activity. It transfers electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2011]

NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 4, 15kDa

This gene encodes a non-catalytic subunit of the multisubunit NADH:ubiquinone oxidoreductase, the first enzyme complex in the mitochondrial electron transport chain (complex I). Mammalian complex I is composed of 45 different subunits and transfers electrons from NADH to ubiquinone. [provided by RefSeq, Dec 2009]

NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 3, 12kDa

This gene encodes an accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) which is the first enzyme in the electron transport chain of mitochondria. This protein localizes to the inner membrane of the mitochondrion as a single-pass membrane protein. Mutations in this gene contribute to mitochondrial complex 1 deficiency. Alternative splicing results in multiple transcript variants encoding the same protein. Humans have multiple pseudogenes of this gene. [provided by RefSeq, Mar 2012]

NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 2, 8kDa

The protein encoded by this gene is a subunit of the multisubunit NADH:ubiquinone oxidoreductase (complex I). Mammalian complex I is composed of 45 different subunits. This protein has NADH dehydrogenase activity and oxidoreductase activity. It plays a important role in transfering electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone. Hydropathy analysis revealed that this subunit and 4 other subunits have an overall hydrophilic pattern, even though they are found within the hydrophobic protein (HP) fraction of complex I. [provided by RefSeq, Jul 2008]

NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 1, 7kDa

Predicted to enable NADH dehydrogenase (ubiquinone) activity. Involved in mitochondrial respiratory chain complex I assembly. Located in mitochondrion and nuclear speck. Part of mitochondrial inner membrane and respiratory chain complex I. [provided by Alliance of Genome Resources, Mar 2025]

NADH dehydrogenase (ubiquinone) complex I, assembly factor 7 pseudogene

NADH dehydrogenase (ubiquinone) flavoprotein 2, 24kDa

The NADH-ubiquinone oxidoreductase complex (complex I) of the mitochondrial respiratory chain catalyzes the transfer of electrons from NADH to ubiquinone, and consists of at least 43 subunits. The complex is located in the inner mitochondrial membrane. This gene encodes the 24 kDa subunit of complex I, and is involved in electron transfer. Mutations in this gene are implicated in Parkinson's disease, bipolar disorder, schizophrenia, and have been found in one case of early onset hypertrophic cardiomyopathy and encephalopathy. A non-transcribed pseudogene of this locus is found on chromosome 19. [provided by RefSeq, Oct 2009]

NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 3, 12kDa pseudogene 2

NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 3, 12kDa pseudogene 3

NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 3, 12kDa pseudogene 1

NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 3, 12kDa pseudogene 4

NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 6, 14kDa

This gene encodes a member of the LYR family of proteins that contain a highly conserved tripeptide (LYR) motif near the N-terminus. The encoded protein is an accessory subunit of NADH: ubiquinone oxidorerductase (Complex I), which is the largest enzyme of the mitochondrial membrane respiratory chain. Complex I functions in electron transfer from NADH to the respiratory chain. [provided by RefSeq, Oct 2016]

NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 7, 14.5kDa

This gene encodes a subunit of NADH:ubiquinone oxidoreductase (complex I), which is a multiprotein complex located in the inner mitochondrial membrane. Complex I functions in the transfer of electrons from NADH to the respiratory chain. [provided by RefSeq, Mar 2011]

NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 5

This nuclear gene encodes a conserved protein that comprises the B13 subunit of complex I of the mitochondrial respiratory chain. The encoded protein localizes to the inner mitochondrial membrane, where it is thought to aid in the transfer of electrons from NADH to ubiquinone. Alternative splicing results in multiple transcript variants. There are numerous pseudogenes of this gene on chromosomes 1, 3, 6, 8, 9, 11, 12, and 16. [provided by RefSeq, Apr 2014]

NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 2, 8kDa

The encoded protein is a subunit of the hydrophobic protein fraction of the NADH:ubiquinone oxidoreductase (complex 1), the first enzyme complex in the electron transport chain located in the inner mitochondrial membrane, and may be involved in regulating complex I activity or its assembly via assistance in redox processes. Mutations in this gene are associated with Leigh syndrome, an early-onset progressive neurodegenerative disorder. Alternative splicing results in multiple transcript variants.[provided by RefSeq, May 2010]

NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 3, 9kDa

Predicted to enable NADH dehydrogenase (ubiquinone) activity. Involved in mitochondrial respiratory chain complex I assembly. Located in mitochondrion. Part of mitochondrial inner membrane and respiratory chain complex I. [provided by Alliance of Genome Resources, Mar 2025]

NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 1, 7.5kDa

The human NDUFA1 gene codes for an essential component of complex I of the respiratory chain, which transfers electrons from NADH to ubiquinone. It has been noted that the N-terminal hydrophobic domain has the potential to be folded into an alpha-helix spanning the inner mitochondrial membrane with a C-terminal hydrophilic domain interacting with globular subunits of complex I. The highly conserved two-domain structure suggests that this feature is critical for the protein function and might act as an anchor for the NADH:ubiquinone oxidoreductase complex at the inner mitochondrial membrane. However, the NDUFA1 peptide is one of about 31 components of the `hydrophobic protein` (HP) fraction of complex I which is involved in proton translocation. Thus the NDUFA1 peptide may also participate in that function. [provided by RefSeq, Jul 2008]

NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 8, 19kDa

The protein encoded by this gene belongs to the complex I 19 kDa subunit family. Mammalian complex I is composed of 45 different subunits. This protein has NADH dehydrogenase activity and oxidoreductase activity. It plays an important role in transfering electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]

NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9, 39kDa

The encoded protein is a subunit of the hydrophobic protein fraction of the NADH:ubiquinone oxidoreductase (complex I), the first enzyme complex in the electron transport chain located in the inner mitochondrial membrane. A pseudogene has been identified on chromosome 12. [provided by RefSeq, May 2010]

NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 5 pseudogene

NADH dehydrogenase (ubiquinone) complex I, assembly factor 2 pseudogene

NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 5, 16kDa pseudogene

NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 5 pseudogene 5

NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 5 pseudogene 4

NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 5 pseudogene 6

NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 5 pseudogene 1

NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 5 pseudogene 3

NADH dehydrogenase (ubiquinone) complex I, assembly factor 4 pseudogene 4

NADH dehydrogenase (ubiquinone) complex I, assembly factor 4 pseudogene 3

NADH dehydrogenase (ubiquinone) complex I, assembly factor 4 pseudogene 2

NADH dehydrogenase (ubiquinone) complex I, assembly factor 4 pseudogene 1

NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9, pseudogene 1

NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 5 pseudogene 12

NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 5 pseudogene

NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 5 pseudogene 9

NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 4, 9kDa, pseudogene 1

NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 4, 9kDa, pseudogene 2

NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 4-like 2

Located in mitochondrion. [provided by Alliance of Genome Resources, Mar 2025]

NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 4, 15kDa pseudogene

NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa

The protein encoded by this gene is a component of 42 kDa complex I, the first enzyme complex in the electron transport chain of mitochondria. This protein has NADH dehydrogenase activity and oxidoreductase activity. It transfers electrons from NADH to the respiratory chain. A mutation in this gene was found in an individual with Leigh syndrome. [provided by RefSeq, Apr 2016]

NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 5, 16kDa pseudogene

NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 5 pseudogene

NADH dehydrogenase (ubiquinone) 1, subcomplex unknown, 1, 6kDa

The encoded protein is a subunit of the NADH:ubiquinone oxidoreductase (complex I), the first enzyme complex in the electron transport chain located in the inner mitochondrial membrane. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2010]

NADH dehydrogenase (ubiquinone) 1, subcomplex unknown, 2, 14.5kDa

Predicted to enable NADH dehydrogenase (ubiquinone) activity. Involved in mitochondrial respiratory chain complex I assembly. Located in mitochondrion. Part of mitochondrial inner membrane and respiratory chain complex I. Implicated in nuclear type mitochondrial complex I deficiency. [provided by Alliance of Genome Resources, Mar 2025]

NADH dehydrogenase (ubiquinone) 1, alpha/beta subcomplex, 1, 8kDa

Enables mitochondrial large ribosomal subunit binding activity. Involved in [2Fe-2S] cluster assembly; mitochondrial respiratory chain complex I assembly; and protein lipoylation. Located in mitochondrion and nucleoplasm. Part of mitochondrial [2Fe-2S] assembly complex; mitochondrial inner membrane; and respiratory chain complex I. [provided by Alliance of Genome Resources, Mar 2025]

NADH dehydrogenase (ubiquinone) flavoprotein 3, 10kDa

The protein encoded by this gene is one of at least forty-one subunits that make up the NADH-ubiquinone oxidoreductase complex. This complex is part of the mitochondrial respiratory chain and serves to catalyze the rotenone-sensitive oxidation of NADH and the reduction of ubiquinone. The encoded protein is one of three proteins found in the flavoprotein fraction of the complex. The specific function of the encoded protein is unknown. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa

The mitochondrial respiratory chain provides energy to cells via oxidative phosphorylation and consists of four membrane-bound electron-transporting protein complexes (I-IV) and an ATP synthase (complex V). This gene encodes a 51 kDa subunit of the NADH:ubiquinone oxidoreductase complex I; a large complex with at least 45 nuclear and mitochondrial encoded subunits that liberates electrons from NADH and channels them to ubiquinone. This subunit carries the NADH-binding site as well as flavin mononucleotide (FMN)- and Fe-S-biding sites. Defects in complex I are a common cause of mitochondrial dysfunction; a syndrome that occurs in approximately 1 in 10,000 live births. Mitochondrial complex I deficiency is linked to myopathies, encephalomyopathies, and neurodegenerative disorders such as Parkinson's disease and Leigh syndrome. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Oct 2009]

NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 12 pseudogene 1

NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 8, pseudogene 2

NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 1 pseudogene 1

NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 11, 17.3kDa

The protein encoded by this gene is a subunit of the multisubunit NADH:ubiquinone oxidoreductase (complex I). Mammalian complex I is located at the mitochondrial inner membrane. This protein has NADH dehydrogenase activity and oxidoreductase activity. It transfers electrons from NADH to ubiquinone. Mutations in the human gene are associated with linear skin defects with multiple congenital anomalies 3 and mitochondrial complex I deficiency. [provided by RefSeq, Dec 2016]

NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 10, 22kDa

Predicted to enable NADH dehydrogenase (ubiquinone) activity. Involved in mitochondrial respiratory chain complex I assembly. Located in mitochondrion. Part of mitochondrial inner membrane and respiratory chain complex I. Implicated in nuclear type mitochondrial complex I deficiency 35. [provided by Alliance of Genome Resources, Mar 2025]

NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 5 pseudogene

NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 4, 15kDa pseudogene

NADH:ubiquinone oxidoreductase complex assembly factor 8

Involved in mitochondrial respiratory chain complex I assembly. Located in mitochondrial matrix. Implicated in nuclear type mitochondrial complex I deficiency 34. [provided by Alliance of Genome Resources, Mar 2025]

aldo-keto reductase family 7, member A2 (aflatoxin aldehyde reductase)

The protein encoded by this gene belongs to the aldo/keto reductase (AKR) superfamily and AKR7 family, which are involved in the detoxification of aldehydes and ketones. The AKR7 family consists of 3 genes that are present in a cluster on the p arm of chromosome 1. This protein, thought to be localized in the golgi, catalyzes the NADPH-dependent reduction of succinic semialdehyde to the endogenous neuromodulator, gamma-hydroxybutyrate. It may also function as a detoxication enzyme in the reduction of aflatoxin B1 and 2-carboxybenzaldehyde. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]

aldo-keto reductase family 7, member A3 (aflatoxin aldehyde reductase)

Aldo-keto reductases, such as AKR7A3, are involved in the detoxification of aldehydes and ketones.[supplied by OMIM, Apr 2004]

aldo-keto reductase family 1, member B1 (aldose reductase)

This gene encodes a member of the aldo/keto reductase superfamily, which consists of more than 40 known enzymes and proteins. This member catalyzes the reduction of a number of aldehydes, including the aldehyde form of glucose, and is thereby implicated in the development of diabetic complications by catalyzing the reduction of glucose to sorbitol. Multiple pseudogenes have been identified for this gene. The nomenclature system used by the HUGO Gene Nomenclature Committee to define human aldo-keto reductase family members is known to differ from that used by the Mouse Genome Informatics database. [provided by RefSeq, Feb 2009]

aldo-keto reductase family 1, member B10 (aldose reductase)

This gene encodes a member of the aldo/keto reductase superfamily, which consists of more than 40 known enzymes and proteins. This member can efficiently reduce aliphatic and aromatic aldehydes, and it is less active on hexoses. It is highly expressed in adrenal gland, small intestine, and colon, and may play an important role in liver carcinogenesis. [provided by RefSeq, Jul 2008]

aldo-keto reductase family 1, member A1 (aldehyde reductase)

This gene encodes a member of the aldo/keto reductase superfamily, which consists of more than 40 known enzymes and proteins. This member, also known as aldehyde reductase, is involved in the reduction of biogenic and xenobiotic aldehydes and is present in virtually every tissue. Multiple alternatively spliced transcript variants of this gene exist, all encoding the same protein. [provided by RefSeq, Jan 2011]

aldo-keto reductase family 7, member A2 (aflatoxin aldehyde reductase) pseudogene

glyoxylate reductase/hydroxypyruvate reductase

This gene encodes an enzyme with hydroxypyruvate reductase, glyoxylate reductase, and D-glycerate dehydrogenase enzymatic activities. The enzyme has widespread tissue expression and has a role in metabolism. Type II hyperoxaluria is caused by mutations in this gene. [provided by RefSeq, Jul 2008]

coenzyme Q7 homolog, ubiquinone (yeast)

The protein encoded by this gene is similar to a mitochondrial di-iron containing hydroxylase in Saccharomyces cerevisiae that is involved with ubiquinone biosynthesis. Mutations in the yeast gene lead to slower development and longer life span. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2010]

NADH dehydrogenase, subunit 1 (complex I)

Enables NADH dehydrogenase (ubiquinone) activity. Involved in mitochondrial electron transport, NADH to ubiquinone and mitochondrial respiratory chain complex I assembly. Located in mitochondrial membrane. Part of mitochondrial inner membrane and respiratory chain complex I. Implicated in several diseases, including MELAS syndrome; neurodegenerative disease (multiple); optic nerve disease (multiple); toxic shock syndrome; and type 2 diabetes mellitus. Biomarker of Alzheimer's disease; Parkinson's disease; and multiple sclerosis. [provided by Alliance of Genome Resources, Mar 2025]

NADH dehydrogenase, subunit 3 (complex I)

Enables NADH dehydrogenase (ubiquinone) activity. Involved in mitochondrial electron transport, NADH to ubiquinone. Located in mitochondrion. Part of mitochondrial inner membrane and respiratory chain complex I. Implicated in Leber hereditary optic neuropathy; Leigh disease; and Parkinson's disease. [provided by Alliance of Genome Resources, Mar 2025]

NADH dehydrogenase, subunit 4 (complex I)

Enables NADH dehydrogenase (ubiquinone) activity. Involved in mitochondrial electron transport, NADH to ubiquinone and mitochondrial respiratory chain complex I assembly. Located in mitochondrion. Part of mitochondrial inner membrane and respiratory chain complex I. Implicated in Leber hereditary optic neuropathy; Parkinson's disease; macular degeneration; and schizophrenia. Biomarker of Alzheimer's disease. [provided by Alliance of Genome Resources, Mar 2025]

NADH dehydrogenase, subunit 5 (complex I)

Enables NADH dehydrogenase (ubiquinone) activity. Involved in mitochondrial electron transport, NADH to ubiquinone and mitochondrial respiratory chain complex I assembly. Located in mitochondrion. Part of mitochondrial inner membrane and respiratory chain complex I. Implicated in Leber hereditary optic neuropathy; Leigh disease; and MELAS syndrome. [provided by Alliance of Genome Resources, Mar 2025]

NADH dehydrogenase, subunit 6 (complex I)

Enables NADH dehydrogenase (ubiquinone) activity. Involved in mitochondrial electron transport, NADH to ubiquinone and mitochondrial respiratory chain complex I assembly. Located in mitochondrion. Part of mitochondrial inner membrane. Implicated in Leber hereditary optic neuropathy; Leigh disease; and spinal muscular atrophy with lower extremity predominant 2B. [provided by Alliance of Genome Resources, Mar 2025]

NADH dehydrogenase, subunit 4L (complex I)

Enables NADH dehydrogenase (ubiquinone) activity. Predicted to be involved in mitochondrial electron transport, NADH to ubiquinone and proton motive force-driven mitochondrial ATP synthesis. Located in mitochondrion. Part of mitochondrial inner membrane and respiratory chain complex I. Implicated in Leber hereditary optic neuropathy and diabetes mellitus. [provided by Alliance of Genome Resources, Mar 2025]

NADH dehydrogenase subunit 6

Enables NADH dehydrogenase (ubiquinone) activity. Involved in mitochondrial electron transport, NADH to ubiquinone and mitochondrial respiratory chain complex I assembly. Located in mitochondrion. Part of mitochondrial inner membrane. Implicated in Leber hereditary optic neuropathy; Leigh disease; and spinal muscular atrophy with lower extremity predominant 2B. [provided by Alliance of Genome Resources, Mar 2025]

NADH dehydrogenase subunit 5

Enables NADH dehydrogenase (ubiquinone) activity. Involved in mitochondrial electron transport, NADH to ubiquinone and mitochondrial respiratory chain complex I assembly. Located in mitochondrion. Part of mitochondrial inner membrane and respiratory chain complex I. Implicated in Leber hereditary optic neuropathy; Leigh disease; and MELAS syndrome. [provided by Alliance of Genome Resources, Mar 2025]

NADH dehydrogenase subunit 4

Enables NADH dehydrogenase (ubiquinone) activity. Involved in mitochondrial electron transport, NADH to ubiquinone and mitochondrial respiratory chain complex I assembly. Located in mitochondrion. Part of mitochondrial inner membrane and respiratory chain complex I. Implicated in Leber hereditary optic neuropathy; Parkinson's disease; macular degeneration; and schizophrenia. Biomarker of Alzheimer's disease. [provided by Alliance of Genome Resources, Mar 2025]

NADH dehydrogenase subunit 2

Enables NADH dehydrogenase (ubiquinone) activity. Involved in mitochondrial electron transport, NADH to ubiquinone and mitochondrial respiratory chain complex I assembly. Located in mitochondrion. Part of mitochondrial inner membrane and respiratory chain complex I. Implicated in Leber hereditary optic neuropathy; multiple sclerosis; myocardial infarction; neurodegenerative disease (multiple); and urinary bladder cancer. [provided by Alliance of Genome Resources, Mar 2025]

NADH dehydrogenase subunit 3

Enables NADH dehydrogenase (ubiquinone) activity. Involved in mitochondrial electron transport, NADH to ubiquinone. Located in mitochondrion. Part of mitochondrial inner membrane and respiratory chain complex I. Implicated in Leber hereditary optic neuropathy; Leigh disease; and Parkinson's disease. [provided by Alliance of Genome Resources, Mar 2025]

NADH dehydrogenase subunit 4L

Enables NADH dehydrogenase (ubiquinone) activity. Predicted to be involved in mitochondrial electron transport, NADH to ubiquinone and proton motive force-driven mitochondrial ATP synthesis. Located in mitochondrion. Part of mitochondrial inner membrane and respiratory chain complex I. Implicated in Leber hereditary optic neuropathy and diabetes mellitus. [provided by Alliance of Genome Resources, Mar 2025]

peroxisomal trans-2-enoyl-CoA reductase

Enables signaling receptor binding activity and trans-2-enoyl-CoA reductase (NADPH) activity. Involved in phytol metabolic process. Located in peroxisome. [provided by Alliance of Genome Resources, Mar 2025]

steroid 5 alpha-reductase 3

The protein encoded by this gene belongs to the steroid 5-alpha reductase family, and polyprenol reductase subfamily. It is involved in the production of androgen 5-alpha-dihydrotestosterone (DHT) from testosterone, and maintenance of the androgen-androgen receptor activation pathway. This protein is also necessary for the conversion of polyprenol into dolichol, which is required for the synthesis of dolichol-linked monosaccharides and the oligosaccharide precursor used for N-linked glycosylation of proteins. Mutations in this gene are associated with congenital disorder of glycosylation type Iq. [provided by RefSeq, Mar 2011]

steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2)

This gene encodes a microsomal protein expressed at high levels in androgen-sensitive tissues such as the prostate. The encoded protein is active at acidic pH and is sensitive to the 4-azasteroid inhibitor finasteride. Deficiencies in this gene can result in male pseudohermaphroditism, specifically pseudovaginal perineoscrotal hypospadias (PPSH). [provided by RefSeq, Jul 2008]

steroid-5-alpha-reductase, alpha polypeptide 1 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 1)

Steroid 5-alpha-reductase (EC 1.3.99.5) catalyzes the conversion of testosterone into the more potent androgen, dihydrotestosterone (DHT). Also see SRD5A2 (MIM 607306).[supplied by OMIM, Mar 2008]

prostaglandin reductase 1 pseudogene

short chain dehydrogenase/reductase family 42E, member 1

Predicted to enable oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor. Predicted to be involved in steroid biosynthetic process. Predicted to be located in membrane. [provided by Alliance of Genome Resources, Mar 2025]

crystallin, zeta (quinone reductase)-like 1

This gene encodes a protein that has sequence similarity to zeta crystallin, also known as quinone oxidoreductase. This zeta crystallin-like protein also contains an NAD(P)H binding site. Alternatively spliced transcript variants have been observed but their full-length nature has not been completely determined. [provided by RefSeq, Jul 2008]

dehydrogenase/reductase (SDR family) member 11

Enables 3-keto sterol reductase activity and steroid dehydrogenase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor. Involved in steroid biosynthetic process. Predicted to be located in extracellular region. [provided by Alliance of Genome Resources, Mar 2025]

dehydrogenase/reductase (SDR family) member 12

This gene encodes a member of the short-chain dehydrogenases/reductases (SDR) family, which has over 46,000 members. Members in this family are enzymes that metabolize many different compounds, such as steroid hormones, prostaglandins, retinoids, lipids and xenobiotics. Alternative splicing results in multiple transcript variants and protein isoforms. [provided by RefSeq, Jul 2012]

dehydrogenase/reductase (SDR family) member 13

Predicted to enable oxidoreductase activity. Located in membrane. [provided by Alliance of Genome Resources, Mar 2025]

fatty acyl CoA reductase 2 pseudogene 1

dicarbonyl/L-xylulose reductase

The protein encoded by this gene acts as a homotetramer to catalyze diacetyl reductase and L-xylulose reductase reactions. The encoded protein may play a role in the uronate cycle of glucose metabolism and in the cellular osmoregulation in the proximal renal tubules. Defects in this gene are a cause of pentosuria. Two transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Aug 2010]

aldo-keto reductase family 7, member A2 pseudogene 1

short chain dehydrogenase/reductase family 42E, member 2

Predicted to enable oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor. Predicted to be involved in steroid biosynthetic process. [provided by Alliance of Genome Resources, Mar 2025]

ribonucleotide reductase M2

This gene encodes one of two non-identical subunits for ribonucleotide reductase. This reductase catalyzes the formation of deoxyribonucleotides from ribonucleotides. Synthesis of the encoded protein (M2) is regulated in a cell-cycle dependent fashion. Transcription from this gene can initiate from alternative promoters, which results in two isoforms that differ in the lengths of their N-termini. Related pseudogenes have been identified on chromosomes 1 and X. [provided by RefSeq, Sep 2009]

ribonucleotide reductase M1

This gene encodes the large and catalytic subunit of ribonucleotide reductase, an enzyme essential for the conversion of ribonucleotides into deoxyribonucleotides. A pool of available deoxyribonucleotides is important for DNA replication during S phase of the cell cycle as well as multiple DNA repair processes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]

methionine sulfoxide reductase A

This gene encodes a ubiquitous and highly conserved protein that carries out the enzymatic reduction of methionine sulfoxide to methionine. Human and animal studies have shown the highest levels of expression in kidney and nervous tissue. The protein functions in the repair of oxidatively damaged proteins to restore biological activity. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014]

3-ketodihydrosphingosine reductase

The protein encoded by this gene catalyzes the reduction of 3-ketodihydrosphingosine to dihydrosphingosine. The putative active site residues of the encoded protein are found on the cytosolic side of the endoplasmic reticulum membrane. A chromosomal rearrangement involving this gene is a cause of follicular lymphoma, also known as type II chronic lymphatic leukemia. The mutation of a conserved residue in the bovine ortholog causes spinal muscular atrophy. [provided by RefSeq, Jul 2008]

prostaglandin reductase 1

This gene encodes an enzyme that is involved in the inactivation of the chemotactic factor, leukotriene B4. The encoded protein specifically catalyzes the NADP+ dependent conversion of leukotriene B4 to 12-oxo-leukotriene B4. A pseudogene of this gene is found on chromosome 1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2009]

prostaglandin reductase 2

This gene encodes an enzyme involved in the metabolism of prostaglandins. The encoded protein catalyzes the NADPH-dependent conversion of 15-keto-prostaglandin E2 to 15-keto-13,14-dihydro-prostaglandin E2. This protein may also be involved in regulating activation of the peroxisome proliferator-activated receptor. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2009]

sepiapterin reductase (7,8-dihydrobiopterin:NADP+ oxidoreductase) pseudogene

dihydrofolate reductase pseudogene

quinoid dihydropteridine reductase

This gene encodes the enzyme dihydropteridine reductase, which catalyzes the NADH-mediated reduction of quinonoid dihydrobiopterin. This enzyme is an essential component of the pterin-dependent aromatic amino acid hydroxylating systems. Mutations in this gene resulting in QDPR deficiency include aberrant splicing, amino acid substitutions, insertions, or premature terminations. Dihydropteridine reductase deficiency presents as atypical phenylketonuria due to insufficient production of biopterin, a cofactor for phenylalanine hydroxylase. [provided by RefSeq, Jul 2008]

dihydrofolate reductase-like 1

Enables dihydrofolate reductase activity and mRNA binding activity. Involved in tetrahydrofolate metabolic process and thymidine biosynthetic process. Located in mitochondrial inner membrane and mitochondrial matrix. [provided by Alliance of Genome Resources, Mar 2025]

dehydrogenase/reductase (SDR family) member 4 like 1

Predicted to enable carbonyl reductase (NADPH) activity. Predicted to be involved in retinal metabolic process. Predicted to be active in peroxisome. [provided by Alliance of Genome Resources, Mar 2025]

dehydrogenase/reductase (SDR family) member 4 like 2

This gene encodes a member of the short chain dehydrogenase reductase family. The encoded protein may be an NADPH dependent retinol oxidoreductase. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Aug 2010]

aldo-keto reductase family 1, member B15

Enables estradiol 17-beta-dehydrogenase [NAD(P)+] activity. Predicted to be involved in estrogen biosynthetic process. Located in cytosol and mitochondrion. [provided by Alliance of Genome Resources, Mar 2025]

ferric-chelate reductase 1-like

This gene encodes a component of the outer-core of an alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid (AMPA) receptor protein in the brain. The encoded protein is thought to interact with inner-core components of the receptor, and play a role in the modulation of glutamate signaling. Mutations in this gene are associated with early infantile epileptic encephalopathy 37. [provided by RefSeq, Jul 2016]

ubiquinol-cytochrome c reductase, complex III subunit X pseudogene

steroid-5-alpha-reductase, alpha polypeptide 1 pseudogene 1 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha pseudogene)

dihydrofolate reductase pseudogene

dehydrogenase/reductase (SDR family) member 7B

Predicted to enable acylglycerone-phosphate reductase (NADP+) activity. Predicted to be involved in ether lipid biosynthetic process. Predicted to act upstream of or within several processes, including brown fat cell differentiation; phosphatidylcholine biosynthetic process; and regulation of cold-induced thermogenesis. Located in membrane. [provided by Alliance of Genome Resources, Mar 2025]

dehydrogenase/reductase (SDR family) member 7C

Predicted to enable all-trans-retinol dehydrogenase (NAD+) activity. Predicted to be involved in D-glucose import; intracellular calcium ion homeostasis; and regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum. Predicted to be located in longitudinal sarcoplasmic reticulum and sarcoplasmic reticulum membrane. [provided by Alliance of Genome Resources, Mar 2025]

methionine sulfoxide reductase B1 pseudogene 1

mitochondrial trans-2-enoyl-CoA reductase

The protein encoded by this gene is an oxidoreductase that catalyzes the last step in mitochondrial fatty acid synthesis. Defects in this gene are a cause of childhood-onset dystonia and optic atrophy. [provided by RefSeq, Mar 2017]

ribonucleotide reductase M2 pseudogene

trans-2,3-enoyl-CoA reductase-like

The protein encoded by this gene contains a ubiquitin-like domain in the N-terminal region, three transmembrane segments and a C-terminal 3-oxo-5-alpha steroid 4-dehydrogenase domain. The protein belongs to the steroid 5-alpha reductase family. Mutations in this gene result in ventricular tachycardia, catecholaminergic polymorphic, 3. [provided by RefSeq, Apr 2017]

dihydrofolate reductase pseudogene

biliverdin reductase B

Enables biliverdin reductase [NAD(P)+] activity; peptidyl-cysteine S-nitrosylase activity; and riboflavin reductase (NADPH) activity. Involved in heme catabolic process; megakaryocyte differentiation; and negative regulation of insulin receptor signaling pathway. Located in cytosol; nucleoplasm; and plasma membrane. Is active in cytoplasm. [provided by Alliance of Genome Resources, Mar 2025]

biliverdin reductase A

The protein encoded by this gene belongs to the biliverdin reductase family, members of which catalyze the conversion of biliverdin to bilirubin in the presence of NADPH or NADH. Mutations in this gene are associated with hyperbiliverdinemia. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2011]

dehydrogenase/reductase (SDR family) member 2 pseudogene

fatty acyl CoA reductase 2 pseudogene 4

ubiquinol-cytochrome c reductase, complex III subunit X

UCRC is a subunit of mitochondrial complex III (ubiquinol-cytochrome c reductase; EC 1.10.2.2), which forms the middle segment of the respiratory chain of the inner mitochondrial membrane (Schagger et al., 1995 [PubMed 8592474]).[supplied by OMIM, Mar 2008]

ubiquinol-cytochrome c reductase, complex III subunit XI

This gene encodes the smallest known component of the ubiquinol-cytochrome c reductase complex, which forms part of the mitochondrial respiratory chain. The encoded protein may function as a binding factor for the iron-sulfur protein in this complex. [provided by RefSeq, Oct 2009]

5-methyltetrahydrofolate-homocysteine methyltransferase reductase

This gene encodes a member of the ferredoxin-NADP(+) reductase (FNR) family of electron transferases. This protein functions in the synthesis of methionine by regenerating methionine synthase to a functional state. Because methionine synthesis requires methyl-group transfer by a folate donor, activity of the encoded enzyme is important for folate metabolism and cellular methylation. Mutations in this gene can cause homocystinuria-megaloblastic anemia, cbl E type. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Dec 2015]

ubiquinol-cytochrome c reductase, complex III subunit VII, 9.5kDa

This gene encodes a ubiquinone-binding protein of low molecular mass. This protein is a small core-associated protein and a subunit of ubiquinol-cytochrome c reductase complex III, which is part of the mitochondrial respiratory chain. [provided by RefSeq, Jul 2008]

ubiquinol-cytochrome c reductase hinge protein

Enables ubiquinol-cytochrome-c reductase activity. Predicted to be involved in mitochondrial electron transport, ubiquinol to cytochrome c. Located in mitochondrion. Part of mitochondrial inner membrane. Implicated in mitochondrial complex III deficiency. [provided by Alliance of Genome Resources, Mar 2025]

ubiquinol-cytochrome c reductase binding protein

This gene encodes a subunit of the ubiquinol-cytochrome c oxidoreductase complex, which consists of one mitochondrial-encoded and 10 nuclear-encoded subunits. The protein encoded by this gene binds ubiquinone and participates in the transfer of electrons when ubiquinone is bound. This protein plays an important role in hypoxia-induced angiogenesis through mitochondrial reactive oxygen species-mediated signaling. Mutations in this gene are associated with mitochondrial complex III deficiency. Alternatively spliced transcript variants have been found for this gene. Related pseudogenes have been identified on chromosomes 1, 5 and X. [provided by RefSeq, Dec 2011]

glyoxylate reductase 1 homolog (Arabidopsis) pseudogene

ubiquinol-cytochrome c reductase core protein II pseudogene 1

ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1 pseudogene 1

Predicted to enable oxidoreductase activity. Predicted to be involved in mitochondrial electron transport, ubiquinol to cytochrome c. Located in mitochondrion. [provided by Alliance of Genome Resources, Mar 2025]

ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1 pseudogene 2

ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1 pseudogene 3

carbonyl reductase 4

Enables several functions, including 3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity; NADPH binding activity; and NADPH dehydrogenase (quinone) activity. Involved in fatty acid biosynthetic process; glycoside metabolic process; and protein tetramerization. Located in mitochondrial matrix. Part of oxidoreductase complex. [provided by Alliance of Genome Resources, Mar 2025]

carbonyl reductase 1

The protein encoded by this gene belongs to the short-chain dehydrogenases/reductases (SDR) family, which function as NADPH-dependent oxidoreductases having wide specificity for carbonyl compounds, such as quinones, prostaglandins, and various xenobiotics. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Nov 2013]

carbonyl reductase 3

Carbonyl reductase 3 catalyzes the reduction of a large number of biologically and pharmacologically active carbonyl compounds to their corresponding alcohols. The enzyme is classified as a monomeric NADPH-dependent oxidoreductase. CBR3 contains three exons spanning 11.2 kilobases and is closely linked to another carbonyl reductase gene - CBR1. [provided by RefSeq, Jul 2008]

short chain dehydrogenase/reductase family 16C, member 6, pseudogene

fatty acyl CoA reductase 2 pseudogene 3

fatty acyl CoA reductase 2 pseudogene 2

methionine sulfoxide reductase B1

The protein encoded by this gene belongs to the methionine-R-sulfoxide reductase B (MsrB) family. Members of this family function as repair enzymes that protect proteins from oxidative stress by catalyzing the reduction of methionine-R-sulfoxides to methionines. This protein is highly expressed in liver and kidney, and is localized to the nucleus and cytosol. It is the only member of the MsrB family that is a selenoprotein, containing a selenocysteine (Sec) residue at its active site. It also has the highest methionine-R-sulfoxide reductase activity compared to other members containing cysteine in place of Sec. Sec is encoded by the UGA codon, which normally signals translation termination. The 3' UTRs of selenoprotein mRNAs contain a conserved stem-loop structure, designated the Sec insertion sequence (SECIS) element, that is necessary for the recognition of UGA as a Sec codon, rather than as a stop signal. A pseudogene of this locus has been identified on chromosome 19. [provided by RefSeq, Aug 2017]

methionine sulfoxide reductase B3

The protein encoded by this gene catalyzes the reduction of methionine sulfoxide to methionine. This enzyme acts as a monomer and requires zinc as a cofactor. Several transcript variants encoding two different isoforms have been found for this gene. One of the isoforms localizes to mitochondria while the other localizes to endoplasmic reticula. [provided by RefSeq, Jul 2010]

ubiquinol-cytochrome c reductase binding protein pseudogene

dehydrogenase/reductase (SDR family) member 9

This gene encodes a member of the short-chain dehydrogenases/reductases (SDR) family. The encoded protein has been identified as a moonlighting protein based on its ability to perform mechanistically distinct functions. This protein demonstrates oxidoreductase activity toward hydroxysteroids and is able to convert 3-alpha-tetrahydroprogesterone to dihydroxyprogesterone and 3-alpha-androstanediol to dihydroxyprogesterone in the cytoplasm, and may additionally function as a transcriptional repressor in the nucleus. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]

dehydrogenase/reductase (SDR family) member 7

This gene encodes a member of the short-chain dehydrogenases/reductases (SDR) family, which has over 46,000 members. Members in this family are enzymes that metabolize many different compounds, such as steroid hormones, prostaglandins, retinoids, lipids and xenobiotics. [provided by RefSeq, Apr 2016]

dehydrogenase/reductase (SDR family) member 4

Enables identical protein binding activity; oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor; and oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor. Involved in several processes, including ketone metabolic process; positive regulation of reactive oxygen species metabolic process; and steroid metabolic process. Located in nucleus and peroxisomal membrane. [provided by Alliance of Genome Resources, Mar 2025]

dehydrogenase/reductase (SDR family) member 2

This gene encodes a member of the short-chain dehydrogenases/reductases (SDR) family, which has over 46,000 members. Members of this family are enzymes that metabolize many different compounds, such as steroid hormones, prostaglandins, retinoids, lipids and xenobiotics. Alternative promoter use and alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2017]

dehydrogenase/reductase (SDR family) member 3

Predicted to enable all-trans-retinol dehydrogenase (NAD+) activity. Predicted to be involved in regulation of retinoic acid receptor signaling pathway and retinoid metabolic process. Predicted to act upstream of or within several processes, including heart morphogenesis; negative regulation of retinoic acid receptor signaling pathway; and regulation of ossification. Predicted to be located in endoplasmic reticulum membrane and photoreceptor outer segment membrane. Predicted to be active in lipid droplet. [provided by Alliance of Genome Resources, Mar 2025]

dehydrogenase/reductase (SDR family) member 1

This gene encodes a member of the short-chain dehydrogenases/reductases (SDR) family. The encoded enzyme contains a conserved catalytic domain and likely functions as an oxidoreductase. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Nov 2008]

dehydrogenase/reductase (SDR family) X-linked

Enables dolichal reductase activity and polyprenol dehydrogenase activity. Involved in dolichol biosynthetic process and positive regulation of autophagy. Located in extracellular region. Is active in lipid droplet. [provided by Alliance of Genome Resources, Mar 2025]

vitamin K epoxide reductase complex, subunit 1

This gene encodes the catalytic subunit of the vitamin K epoxide reductase complex, which is responsible for the reduction of inactive vitamin K 2,3-epoxide to active vitamin K in the endoplasmic reticulum membrane. Vitamin K is a required co-factor for carboxylation of glutamic acid residues by vitamin K-dependent gamma-carboxylase in blood-clotting enzymes. Allelic variation in this gene is associated with vitamin k-dependent clotting factors combined deficiency of 2, and increased resistance or sensitivity to warfarin, an inhibitor of vitamin K epoxide reductase. Pseudogenes of this gene are located on chromosomes 1 and X. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2015]

ribonucleotide reductase M2 B (TP53 inducible)

This gene encodes the small subunit of a p53-inducible ribonucleotide reductase. This heterotetrameric enzyme catalyzes the conversion of ribonucleoside diphosphates to deoxyribonucleoside diphosphates. The product of this reaction is necessary for DNA synthesis. Mutations in this gene have been associated with autosomal recessive mitochondrial DNA depletion syndrome, autosomal dominant progressive external ophthalmoplegia-5, and mitochondrial neurogastrointestinal encephalopathy. Alternatively spliced transcript variants have been described.[provided by RefSeq, Feb 2010]

aldo-keto reductase family 1, member B1 pseudogene 4

aldo-keto reductase family 1, member B1 pseudogene 5

aldo-keto reductase family 1, member B1 pseudogene 6

aldo-keto reductase family 1, member B1 pseudogene 7

aldehyde reductase family 1, member B1 pseudogene 1

aldo-keto reductase family 1, member B1 pseudogene 2

aldo-keto reductase family 1, member B1 pseudogene 3

aldo-keto reductase family 1, member B1 pseudogene 8

vitamin K epoxide reductase complex, subunit 1-like 1

This gene encodes an enzyme important in the vitamin K cycle, which is involved in the carboxylation of glutamate residues present in vitamin K-dependent proteins. The encoded enzyme catalyzes the de-epoxidation of vitamin K 2,3-epoxide. Oxidative stress may upregulate expression of this gene and the encoded protein may protect cells and membrane proteins form oxidative damage. This gene and a related gene (Gene ID: 79001) may have arisen by gene duplication of an ancestral gene. [provided by RefSeq, Oct 2016]

aldo-keto reductase family 1, member C7, pseudogene

ribonucleotide reductase M2 polypeptide pseudogene 4

ribonucleotide reductase M2 polypeptide pseudogene 3

ribonucleotide reductase M2 polypeptide pseudogene 2

cytochrome b reductase 1

This gene is a member of the cytochrome b(561) family that encodes an iron-regulated protein. It highly expressed in the duodenal brush border membrane. It has ferric reductase activity and is believed to play a physiological role in dietary iron absorption. [provided by RefSeq, Jul 2008]

vitamin K epoxide reductase complex, subunit 1-like 1 pseudogene

aldo-keto reductase family 1, member B10 pseudogene 1

aldo-keto reductase family 1, member B10 pseudogene 2

ubiquinol-cytochrome c reductase binding protein pseudogene 2

ubiquinol-cytochrome c reductase binding protein pseudogene 3

ubiquinol-cytochrome c reductase binding protein pseudogene 1

guanosine monophosphate reductase 2

This gene encodes an enzyme that catalyzes the irreversible and NADPH-dependent reductive deamination of guanosine monophosphate (GMP) to inosine monophosphate (IMP). The protein also functions in the re-utilization of free intracellular bases and purine nucleosides. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2017]

short chain dehydrogenase/reductase family 42E, member 1 pseudogene

short chain dehydrogenase/reductase family 42E, member 1 pseudogene

short chain dehydrogenase/reductase family 42E, member 1 pseudogene

sepiapterin reductase (7,8-dihydrobiopterin:NADP+ oxidoreductase)

This gene encodes an aldo-keto reductase that catalyzes the NADPH-dependent reduction of pteridine derivatives and is important in the biosynthesis of tetrahydrobiopterin (BH4). Mutations in this gene result in DOPA-responsive dystonia due to sepiaterin reductase deficiency. A pseudogene has been identified on chromosome 1. [provided by RefSeq, Jul 2008]

trans-2,3-enoyl-CoA reductase pseudogene 1

trans-2,3-enoyl-CoA reductase pseudogene 2

methylenetetrahydrofolate reductase (NAD(P)H)

The protein encoded by this gene catalyzes the conversion of 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate, a co-substrate for homocysteine remethylation to methionine. Genetic variation in this gene influences susceptibility to occlusive vascular disease, neural tube defects, colon cancer and acute leukemia, and mutations in this gene are associated with methylenetetrahydrofolate reductase deficiency.[provided by RefSeq, Oct 2009]

aldo-keto reductase family 1, member C8, pseudogene

Predicted to enable aldo-keto reductase (NADPH) activity and estradiol 17-beta-dehydrogenase [NAD(P)+] activity. Predicted to be involved in prostaglandin biosynthetic process. Predicted to be located in cytoplasm. [provided by Alliance of Genome Resources, Mar 2025]

dihydrofolate reductase-like 1 pseudogene

ferric-chelate reductase 1

Members of the cytochrome b561 (CYB561; MIM 600019) family, including FRRS1, reduce ferric to ferrous iron before its transport from the endosome to the cytoplasm (Vargas et al., 2003 [PubMed 14499595]).[supplied by OMIM, Mar 2008]

fatty acyl CoA reductase 1 pseudogene 1

short chain dehydrogenase/reductase family 42E, member 1 pseudogene 1

crystallin, zeta (quinone reductase) pseudogene 1

crystallin, zeta (quinone reductase) pseudogene 2

fatty acyl CoA reductase 2 pseudogene

ubiquinol-cytochrome c reductase hinge protein-like

This gene has characteristics of a pseudogene derived from the UQCRH gene. However, there is still an open reading frame that could produce a protein of the same or nearly the same size as that of the UQCRH gene, so this gene is being called protein-coding for now. [provided by RefSeq, Jul 2008]

aldo-keto reductase family 1, member C1

This gene encodes a member of the aldo/keto reductase superfamily, which consists of more than 40 known enzymes and proteins. These enzymes catalyze the conversion of aldehydes and ketones to their corresponding alcohols by utilizing NADH and/or NADPH as cofactors. The enzymes display overlapping but distinct substrate specificity. This enzyme catalyzes the reaction of progesterone to the inactive form 20-alpha-hydroxy-progesterone. This gene shares high sequence identity with three other gene members and is clustered with those three genes at chromosome 10p15-p14. [provided by RefSeq, Jul 2008]

ubiquinol-cytochrome c reductase hinge protein pseudogene 3

guanosine monophosphate reductase pseudogene

dihydrofolate reductase pseudogene 2

BC1 (ubiquinol-cytochrome c reductase) synthesis-like

This gene encodes a homolog of the S. cerevisiae bcs1 protein which is involved in the assembly of complex III of the mitochondrial respiratory chain. The encoded protein does not contain a mitochondrial targeting sequence but experimental studies confirm that it is imported into mitochondria. Mutations in this gene are associated with mitochondrial complex III deficiency and the GRACILE syndrome. Several alternatively spliced transcripts encoding two different isoforms have been described. [provided by RefSeq, Jan 2016]

ferredoxin reductase

This gene encodes a mitochondrial flavoprotein that initiates electron transport for cytochromes P450 receiving electrons from NADPH. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Apr 2012]

aldo-keto reductase family 1, member D1 pseudogene 1

ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1

Predicted to enable oxidoreductase activity. Involved in mitochondrial respiratory chain complex III assembly and respiratory electron transport chain. Located in mitochondrion. Part of respiratory chain complex III. Implicated in mitochondrial complex III deficiency. [provided by Alliance of Genome Resources, Mar 2025]

aldo-keto reductase family 1, member C4

This gene encodes a member of the aldo/keto reductase superfamily, which consists of more than 40 known enzymes and proteins. These enzymes catalyze the conversion of aldehydes and ketones to their corresponding alcohols by utilizing NADH and/or NADPH as cofactors. The enzymes display overlapping but distinct substrate specificity. This enzyme catalyzes the bioreduction of chlordecone, a toxic organochlorine pesticide, to chlordecone alcohol in liver. This gene shares high sequence identity with three other gene members and is clustered with those three genes at chromosome 10p15-p14. [provided by RefSeq, Jul 2008]

aldo-keto reductase family 1, member C2

This gene encodes a member of the aldo/keto reductase superfamily, which consists of more than 40 known enzymes and proteins. These enzymes catalyze the conversion of aldehydes and ketones to their corresponding alcohols using NADH and/or NADPH as cofactors. The enzymes display overlapping but distinct substrate specificity. This enzyme binds bile acid with high affinity, and shows minimal 3-alpha-hydroxysteroid dehydrogenase activity. This gene shares high sequence identity with three other gene members and is clustered with those three genes at chromosome 10p15-p14. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]

3-hydroxy-3-methylglutaryl-CoA reductase

HMG-CoA reductase is the rate-limiting enzyme for cholesterol synthesis and is regulated via a negative feedback mechanism mediated by sterols and non-sterol metabolites derived from mevalonate, the product of the reaction catalyzed by reductase. Normally in mammalian cells this enzyme is suppressed by cholesterol derived from the internalization and degradation of low density lipoprotein (LDL) via the LDL receptor. Competitive inhibitors of the reductase induce the expression of LDL receptors in the liver, which in turn increases the catabolism of plasma LDL and lowers the plasma concentration of cholesterol, an important determinant of atherosclerosis. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008]

aldo-keto reductase family 1, member C3

This gene encodes a member of the aldo/keto reductase superfamily, which consists of more than 40 known enzymes and proteins. These enzymes catalyze the conversion of aldehydes and ketones to their corresponding alcohols by utilizing NADH and/or NADPH as cofactors. The enzymes display overlapping but distinct substrate specificity. This enzyme catalyzes the reduction of prostaglandin (PG) D2, PGH2 and phenanthrenequinone (PQ), and the oxidation of 9alpha,11beta-PGF2 to PGD2. It may play an important role in the pathogenesis of allergic diseases such as asthma, and may also have a role in controlling cell growth and/or differentiation. This gene shares high sequence identity with three other gene members and is clustered with those three genes at chromosome 10p15-p14. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]

fatty acyl CoA reductase 2 pseudogene

fatty acyl CoA reductase 2 pseudogene

fatty acyl CoA reductase 2 pseudogene

short chain dehydrogenase/reductase family 9C, member 7

This gene encodes a protein with similarity to the short-chain dehydrogenase/reductase (SDR) family but has not been shown to have retinoid or dehydrogenase activities. [provided by RefSeq, Apr 2010]

glyoxylate reductase 1 homolog (Arabidopsis)

Enables several functions, including chromatin-protein adaptor activity; methylated histone binding activity; and nucleosome binding activity. Involved in transcription elongation-coupled chromatin remodeling and transcription initiation-coupled chromatin remodeling. Located in cytosol and nucleoplasm. Part of nucleosome. Is active in chromatin. [provided by Alliance of Genome Resources, Mar 2025]

sulfide quinone reductase-like (yeast)

The protein encoded by this gene may function in mitochondria to catalyze the conversion of sulfide to persulfides, thereby decreasing toxic concencrations of sulfide. Alternative splicing results in multiple transcript variants that encode the same protein. [provided by RefSeq, Sep 2012]

aldo-keto reductase family 7-like (gene/pseudogene)

This gene is one of three aldo-keto reductase genes that are present in a cluster on the p arm of chromosome 1. The encoded proteins are involved in the reduction of the dialdehyde protein-binding form of aflatoxin B1 (AFB1) to the non-binding AFB1 dialcohol. It has been speculated that this family member encodes a selenoprotein, which includes a selenocysteine (Sec) residue in lieu of a UGA translational termination codon. However, there is no evidence that such a protein is produced in vivo. The alternative interpretation is that this family member is a segregating pseudogene, where some individuals have an allele that encodes a functional enzyme, while other individuals have an allele encoding a protein that is predicted to be non-functional. [provided by RefSeq, Feb 2017]

aldo-keto reductase family 1, member C5, pseudogene

cytochrome b5 reductase 4

NCB5OR is a flavohemoprotein that contains functional domains found in both cytochrome b5 (CYB5A; MIM 613218) and CYB5 reductase (CYB5R3; MIM 613213) (Zhu et al., 1999 [PubMed 10611283]).[supplied by OMIM, Jan 2010]

cytochrome b5 reductase 3

This gene encodes cytochrome b5 reductase, which includes a membrane-bound form in somatic cells (anchored in the endoplasmic reticulum, mitochondrial and other membranes) and a soluble form in erythrocytes. The membrane-bound form exists mainly on the cytoplasmic side of the endoplasmic reticulum and functions in desaturation and elongation of fatty acids, in cholesterol biosynthesis, and in drug metabolism. The erythrocyte form is located in a soluble fraction of circulating erythrocytes and is involved in methemoglobin reduction. The membrane-bound form has both membrane-binding and catalytic domains, while the soluble form has only the catalytic domain. Alternate splicing results in multiple transcript variants. Mutations in this gene cause methemoglobinemias. [provided by RefSeq, Jan 2010]

cytochrome b5 reductase 2

The protein encoded by this gene belongs to the flavoprotein pyridine nucleotide cytochrome reductase family of proteins. Cytochrome b-type NAD(P)H oxidoreductases are implicated in many processes including cholesterol biosynthesis, fatty acid desaturation and elongation, and respiratory burst in neutrophils and macrophages. Cytochrome b5 reductases have soluble and membrane-bound forms that are the product of alternative splicing. In animal cells, the membrane-bound form binds to the endoplasmic reticulum, where it is a member of a fatty acid desaturation complex. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014]

cytochrome b5 reductase 1

Predicted to enable FAD binding activity. Predicted to be involved in bicarbonate transport. Located in cytosol and mitochondrion. [provided by Alliance of Genome Resources, Mar 2025]

cytochrome b5 reductase-like

Predicted to enable cytochrome-b5 reductase activity, acting on NAD(P)H. Predicted to be involved in bicarbonate transport. Located in nucleoplasm. [provided by Alliance of Genome Resources, Mar 2025]

ubiquinol-cytochrome c reductase core protein II

The protein encoded by this gene is located in the mitochondrion, where it is part of the ubiquinol-cytochrome c reductase complex (also known as complex III). This complex constitutes a part of the mitochondrial respiratory chain. Defects in this gene are a cause of mitochondrial complex III deficiency nuclear type 5. [provided by RefSeq, Jul 2015]

ubiquinol-cytochrome c reductase core protein I

Enables ubiquitin protein ligase binding activity. Predicted to be involved in oxidative phosphorylation. Predicted to act upstream of or within mitochondrial electron transport, ubiquinol to cytochrome c. Located in mitochondrion. Part of mitochondrial inner membrane. Implicated in Alzheimer's disease. Biomarker of Alzheimer's disease. [provided by Alliance of Genome Resources, Mar 2025]

retinol saturase (all-trans-retinol 13,14-reductase)

Predicted to enable all-trans-retinol 13,14-reductase activity. Predicted to be involved in retinol metabolic process. Located in membrane. [provided by Alliance of Genome Resources, Mar 2025]

thioredoxin reductase 3 neighbor

carbonyl reductase 1 pseudogene

crystallin, zeta (quinone reductase)

Crystallins are separated into two classes: taxon-specific, or enzyme, and ubiquitous. The latter class constitutes the major proteins of vertebrate eye lens and maintains the transparency and refractive index of the lens. The former class is also called phylogenetically-restricted crystallins. This gene encodes a taxon-specific crystallin protein which has NADPH-dependent quinone reductase activity distinct from other known quinone reductases. It lacks alcohol dehydrogenase activity although by similarity it is considered a member of the zinc-containing alcohol dehydrogenase family. Unlike other mammalian species, in humans, lens expression is low. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. One pseudogene is known to exist. [provided by RefSeq, Sep 2008]

Aromatic alpha-keto acid reductase

dihydrofolate reductase pseudogene 1

Enables dihydrofolate reductase activity; heterocyclic compound binding activity; and nucleic acid binding activity. Involved in several processes, including dihydrofolate metabolic process; tetrahydrobiopterin biosynthetic process; and tetrahydrofolate biosynthetic process. Located in mitochondrion. [provided by Alliance of Genome Resources, Mar 2025]

pyrroline-5-carboxylate reductase family, member 2

This gene belongs to the pyrroline-5-carboxylate reductase family. The encoded mitochondrial protein catalyzes the conversion of pyrroline-5-carboxylate to proline, which is the last step in proline biosynthesis. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Nov 2012]

pyrroline-5-carboxylate reductase 1

This gene encodes an enzyme that catalyzes the NAD(P)H-dependent conversion of pyrroline-5-carboxylate to proline. This enzyme may also play a physiologic role in the generation of NADP(+) in some cell types. The protein forms a homopolymer and localizes to the mitochondrion. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]

pyrroline-5-carboxylate reductase-like

This gene encodes a protein that belongs to the pyrroline-5-carboxylate reductase family of enzymes. Members of this family catalyze the final step in proline biosynthesis, converting pyrroline-5-carboxylate to proline. Glutamate and ornithine are precursors in the synthesis of proline. The protein encoded by this gene is a cytoplasmic enzyme involved in the biosynthesis of proline from ornithine. [provided by RefSeq, Aug 2016]

24-dehydrocholesterol reductase

This gene encodes a flavin adenine dinucleotide (FAD)-dependent oxidoreductase which catalyzes the reduction of the delta-24 double bond of sterol intermediates during cholesterol biosynthesis. The protein contains a leader sequence that directs it to the endoplasmic reticulum membrane. Missense mutations in this gene have been associated with desmosterolosis. Also, reduced expression of the gene occurs in the temporal cortex of Alzheimer disease patients and overexpression has been observed in adrenal gland cancer cells. [provided by RefSeq, Jul 2008]

aldo-keto reductase family 1, member D1

The enzyme encoded by this gene is responsible for the catalysis of the 5-beta-reduction of bile acid intermediates and steroid hormones carrying a delta(4)-3-one structure. Deficiency of this enzyme may contribute to hepatic dysfunction. Three transcript variants encoding different isoforms have been found for this gene. Other variants may be present, but their full-length natures have not been determined yet. [provided by RefSeq, Jul 2010]

fatty acyl CoA reductase 1

The protein encoded by this gene is required for the reduction of fatty acids to fatty alcohols, a process that is required for the synthesis of monoesters and ether lipids. NADPH is required as a cofactor in this reaction, and 16-18 carbon saturated and unsaturated fatty acids are the preferred substrate. This is a peroxisomal membrane protein, and studies suggest that the N-terminus contains a large catalytic domain located on the outside of the peroxisome, while the C-terminus is exposed to the matrix of the peroxisome. Studies indicate that the regulation of this protein is dependent on plasmalogen levels. Mutations in this gene have been associated with individuals affected by severe intellectual disability, early-onset epilepsy, microcephaly, congenital cataracts, growth retardation, and spasticity (PMID: 25439727). A pseudogene of this gene is located on chromosome 13. [provided by RefSeq, Jan 2015]

fatty acyl CoA reductase 2

This gene belongs to the short chain dehydrogenase/reductase superfamily. It encodes a reductase enzyme involved in the first step of wax biosynthesis wherein fatty acids are converted to fatty alcohols. The encoded peroxisomal protein utilizes saturated fatty acids of 16 or 18 carbons as preferred substrates. Alternatively spliced transcript variants have been observed for this gene. Related pseudogenes have been identified on chromosomes 2, 14 and 22. [provided by RefSeq, Nov 2012]

ubiquinol-cytochrome c reductase complex assembly factor 1

This gene encodes a transmembrane protein that is structurally similar to the mouse basic fibroblast growth factor repressed ZIC-binding protein. In mouse this protein may be involved in fibroblast growth factor regulated growth control. In humans, polymorphisms in this gene are associated with variation in human height and osteoarthritis. Alternate splicing results in multiple transcript variants. [provided by RefSeq, May 2010]

ubiquinol-cytochrome c reductase complex assembly factor 3

Complex III is a mitochondrial inner membrane protein complex that transfers electrons from ubiquinol to cytochrome c. This gene encodes a protein that functions in complex III assembly. Mutations in this gene result in Mitochondrial complex III deficiency, nuclear type 9. [provided by RefSeq, Dec 2014]

ubiquinol-cytochrome c reductase complex assembly factor 2

This gene encodes a nucleoid protein localized to the mitochondria inner membrane. The encoded protein affects regulation of insulin secretion, mitochondrial ATP production, and myogenesis through modulation of mitochondrial respiratory chain activity. [provided by RefSeq, Oct 2012]

dihydrofolate reductase pseudogene

aldo-keto reductase family 1, member E2

The protein encoded by this gene is a member of the aldo-keto reductase superfamily. Members in this family are characterized by their structure (evolutionarily highly conserved TIM barrel) and function (NAD(P)H-dependent oxido-reduction of carbonyl groups). Transcripts of this gene have been reported in specimens of human testis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012]

aldo-keto reductase family 1, member C6, pseudogene

methionine sulfoxide reductase B2

Predicted to enable actin binding activity; peptide-methionine (R)-S-oxide reductase activity; and zinc ion binding activity. Predicted to be involved in actin filament polymerization and protein repair. Located in mitochondrion. [provided by Alliance of Genome Resources, Mar 2025]

dihydrofolate reductase pseudogene

short chain dehydrogenase/reductase family 42E, member 1 pseudogene

guanosine monophosphate reductase

This gene encodes an enzyme that catalyzes the irreversible and NADPH-dependent reductive deamination of GMP to IMP. The protein also functions in the re-utilization of free intracellular bases and purine nucleosides.[provided by RefSeq, Oct 2009]

glutathione reductase

This gene encodes a member of the class-I pyridine nucleotide-disulfide oxidoreductase family. This enzyme is a homodimeric flavoprotein. It is a central enzyme of cellular antioxidant defense, and reduces oxidized glutathione disulfide (GSSG) to the sulfhydryl form GSH, which is an important cellular antioxidant. Rare mutations in this gene result in hereditary glutathione reductase deficiency. Multiple alternatively spliced transcript variants encoding different isoforms have been found. [provided by RefSeq, Aug 2010]

7-dehydrocholesterol reductase

This gene encodes an enzyme that removes the C(7-8) double bond in the B ring of sterols and catalyzes the conversion of 7-dehydrocholesterol to cholesterol. This gene is ubiquitously expressed and its transmembrane protein localizes to the endoplasmic reticulum membrane and nuclear outer membrane. Mutations in this gene cause Smith-Lemli-Opitz syndrome (SLOS); a syndrome that is metabolically characterized by reduced serum cholesterol levels and elevated serum 7-dehydrocholesterol levels and phenotypically characterized by cognitive disability, facial dysmorphism, syndactyly of second and third toes, and holoprosencephaly in severe cases to minimal physical abnormalities and near-normal intelligence in mild cases. Alternative splicing results in multiple transcript variants that encode the same protein.[provided by RefSeq, Aug 2009]

thioredoxin reductase 2

The protein encoded by this gene belongs to the pyridine nucleotide-disulfide oxidoreductase family, and is a member of the thioredoxin (Trx) system. Three thioredoxin reductase (TrxR) isozymes are found in mammals. TrxRs are selenocysteine-containing flavoenzymes, which reduce thioredoxins, as well as other substrates, and play a key role in redox homoeostasis. This gene encodes a mitochondrial form important for scavenging reactive oxygen species in mitochondria. It functions as a homodimer containing FAD, and selenocysteine (Sec) at the active site. Sec is encoded by UGA codon that normally signals translation termination. The 3' UTRs of selenoprotein mRNAs contain a conserved stem-loop structure, the Sec insertion sequence (SECIS) element, which is necessary for the recognition of UGA as a Sec codon rather than as a stop signal. Alternatively spliced transcript variants encoding different isoforms, including a few localized in the cytosol and some lacking the C-terminal Sec residue, have been found for this gene. [provided by RefSeq, Jun 2017]

thioredoxin reductase 3

The protein encoded by this gene belongs to the pyridine nucleotide-disulfide oxidoreductase family, and is a member of the thioredoxin (Trx) system. Three thioredoxin reductase (TrxR) isozymes are found in mammals. TrxRs are selenocysteine-containing flavoenzymes, which reduce thioredoxins, as well as other substrates, and play a key role in redox homoeostasis. This gene encodes the third TrxR, which unlike the other two isozymes, contains an additional N-terminal glutaredoxin (Grx) domain, and shows highest expression in testis. The Grx domain allows this isozyme to participate in both Trx and glutathione systems. It functions as a homodimer containing FAD, and selenocysteine (Sec) at the active site. Sec is encoded by UGA codon that normally signals translation termination. The 3' UTRs of selenoprotein mRNAs contain a conserved stem-loop structure, the Sec insertion sequence (SECIS) element, which is necessary for the recognition of UGA as a Sec codon rather than as a stop signal. Alternatively spliced transcript variants have been found for this gene. Experimental evidence suggests the use of a non-AUG (CUG) codon as a translation initiation codon (PMID:20018845). [provided by RefSeq, Aug 2017]

thioredoxin reductase 1

The protein encoded by this gene belongs to the pyridine nucleotide-disulfide oxidoreductase family, and is a member of the thioredoxin (Trx) system. Three thioredoxin reductase (TrxR) isozymes are found in mammals. TrxRs are selenocysteine-containing flavoenzymes, which reduce thioredoxins, as well as other substrates, and play a key role in redox homoeostasis. This gene encodes an ubiquitously expressed, cytosolic form of TrxR, which functions as a homodimer containing FAD, and selenocysteine (Sec) at the active site. Sec is encoded by UGA codon that normally signals translation termination. The 3' UTRs of selenoprotein mRNAs contain a conserved stem-loop structure, the Sec insertion sequence (SECIS) element, which is necessary for the recognition of UGA as a Sec codon rather than as a stop signal. Alternative splicing, primarily at the 5' end, results in transcript variants encoding same or different isoforms, including a glutaredoxin-containing isoform that is predominantly expressed in testis. [provided by RefSeq, May 2017]

short chain dehydrogenase/reductase family 16C, member 5

This gene encodes a member of the short-chain alcohol dehydrogenase/reductase superfamily of proteins and is involved in the oxidation of retinol to retinaldehyde. The encoded protein is associated with the endoplasmic reticulum and is predicted to contain three transmembrane helices, suggesting that it is an integral membrane protein. It recognizes all-trans-retinol and all-trans-retinaldehyde as substrates and exhibits a strong preference for NAD(+)/NADH as cofactors. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]

ubiquinol-cytochrome c reductase hinge protein pseudogene 4

ubiquinol-cytochrome c reductase hinge protein pseudogene 1

ubiquinol-cytochrome c reductase hinge protein pseudogene 2

2,4-dienoyl CoA reductase 2, peroxisomal

Enables 2,4-dienoyl-CoA reductase (NADPH) activity and trans-2-enoyl-CoA reductase (NADPH) activity. Involved in unsaturated fatty acid biosynthetic process. Predicted to be located in cytosol and peroxisomal membrane. Predicted to be active in peroxisome. [provided by Alliance of Genome Resources, Mar 2025]

2,4-dienoyl CoA reductase 1, mitochondrial

Enables 2,4-dienoyl-CoA reductase (NADPH) activity; NADPH binding activity; and identical protein binding activity. Involved in fatty acid beta-oxidation. Located in cytosol; mitochondrion; and nucleoplasm. Part of catalytic complex. [provided by Alliance of Genome Resources, Mar 2025]

dihydrofolate reductase

Dihydrofolate reductase converts dihydrofolate into tetrahydrofolate, a methyl group shuttle required for the de novo synthesis of purines, thymidylic acid, and certain amino acids. While the functional dihydrofolate reductase gene has been mapped to chromosome 5, multiple intronless processed pseudogenes or dihydrofolate reductase-like genes have been identified on separate chromosomes. Dihydrofolate reductase deficiency has been linked to megaloblastic anemia. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2014]

steroid 5 alpha-reductase 3 pseudogene 1

trans-2,3-enoyl-CoA reductase

This gene encodes a multi-pass membrane protein that resides in the endoplasmic reticulum, and belongs to the steroid 5-alpha reductase family. The elongation of microsomal long and very long chain fatty acid consists of 4 sequential reactions. This protein catalyzes the final step, reducing trans-2,3-enoyl-CoA to saturated acyl-CoA. Alternatively spliced transcript variants have been found for this gene.[provided by RefSeq, Apr 2011]

short chain dehydrogenase/reductase family 39U, member 1

This gene encodes a member of the short-chain dehydrogenases/reductases (SDR) superfamily, which includes both classical and extended types. The encoded protein represents an extended type, with similarity to epimerases. Alternatively spliced transcript variants that encode different protein isoforms have been described. [provided by RefSeq, Mar 2014]

putative short-chain dehydrogenase/reductase family 42E member 2

pyrroline-5-carboxylate reductase 3

This gene encodes a protein that belongs to the pyrroline-5-carboxylate reductase family of enzymes. Members of this family catalyze the final step in proline biosynthesis, converting pyrroline-5-carboxylate to proline. Glutamate and ornithine are precursors in the synthesis of proline. The protein encoded by this gene is a cytoplasmic enzyme involved in the biosynthesis of proline from ornithine. [provided by RefSeq, Aug 2016]

ubiquinol-cytochrome c reductase complex assembly factor 4

Predicted to be involved in mitochondrial respiratory chain complex III assembly. Located in mitochondrion. [provided by Alliance of Genome Resources, Mar 2025]

prostaglandin reductase 3

Predicted to enable 15-oxoprostaglandin 13-oxidase [NAD(P)+] activity. Predicted to be involved in negative regulation of fat cell differentiation. Located in mitochondrion. [provided by Alliance of Genome Resources, Mar 2025]

ubiquinol-cytochrome c reductase complex assembly factor 6

Involved in mitochondrial cytochrome c oxidase assembly and mitochondrial respiratory chain complex III assembly. Located in mitochondrion. Is active in mitochondrial inner membrane. [provided by Alliance of Genome Resources, Mar 2025]

dihydrofolate reductase 2

Enables dihydrofolate reductase activity and mRNA binding activity. Involved in tetrahydrofolate metabolic process and thymidine biosynthetic process. Located in mitochondrial inner membrane and mitochondrial matrix. [provided by Alliance of Genome Resources, Mar 2025]

dihydrofolate reductase pseudogene 3

aldo-keto reductase family 1 member C8

Predicted to enable aldo-keto reductase (NADPH) activity and estradiol 17-beta-dehydrogenase [NAD(P)+] activity. Predicted to be involved in prostaglandin biosynthetic process. Predicted to be located in cytoplasm. [provided by Alliance of Genome Resources, Mar 2025]

ubiquinol-cytochrome c reductase complex assembly factor 5

Enables mitochondrial ribosome binding activity. Involved in mitochondrial cytochrome c oxidase assembly. Located in mitochondrion. Is active in mitochondrial inner membrane. [provided by Alliance of Genome Resources, Mar 2025]

UFM1-specific peptidase 1 (non-functional)

This gene encodes a protein that is similar to other Ufm1-specific proteases. Studies in mouse determined that Ufsp1 releases Ufm1 (ubiquitin-fold modifier 1) from its bound conjugated complexes which also makes it into an active form. Because the human UFSP1 protein is shorter on the N-terminus and lacks a conserved Cys active site, it is predicted to be non-functional.[provided by RefSeq, Nov 2009]

long intergenic non-protein coding RNA 1221

Helicobacter pylori responsive 1 (non-protein coding)

long intergenic non-protein coding RNA 1227

polled intersex syndrome regulated transcript 1 (non-protein coding RNA)

protein tyrosine phosphatase, non-receptor type 18 (brain-derived)

The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, the mitotic cycle, and oncogenic transformation. This PTP contains a PEST motif, which often serves as a protein-protein interaction domain, and may be related to protein intracellular half-live. This protein can differentially dephosphorylate autophosphorylated tyrosine kinases that are overexpressed in tumor tissues, and it appears to regulate HER2, a member of the epidermal growth factor receptor family of receptor tyrosine kinases. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2008]

protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)

The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP is a large intracellular protein. It has a catalytic PTP domain at its C-terminus and two major structural domains: a region with five PDZ domains and a FERM domain that binds to plasma membrane and cytoskeletal elements. This PTP was found to interact with, and dephosphorylate, Fas receptor and IkappaBalpha through the PDZ domains. This suggests it has a role in Fas mediated programmed cell death. This PTP was also shown to interact with GTPase-activating protein, and thus may function as a regulator of Rho signaling pathways. Four alternatively spliced transcript variants, which encode distinct proteins, have been reported. [provided by RefSeq, Oct 2008]

protein tyrosine phosphatase, non-receptor type 12

The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP contains a C-terminal PEST motif, which serves as a protein-protein interaction domain, and may regulate protein intracellular half-life. This PTP was found to bind and dephosphorylate the product of the oncogene c-ABL and thus may play a role in oncogenesis. This PTP was also shown to interact with, and dephosphorylate, various products related to cytoskeletal structure and cell adhesion, such as p130 (Cas), CAKbeta/PTK2B, PSTPIP1, and paxillin. This suggests it has a regulatory role in controlling cell shape and mobility. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Oct 2008]

protein tyrosine phosphatase, non-receptor type 11

The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP contains two tandem Src homology-2 domains, which function as phospho-tyrosine binding domains and mediate the interaction of this PTP with its substrates. This PTP is widely expressed in most tissues and plays a regulatory role in various cell signaling events that are important for a diversity of cell functions, such as mitogenic activation, metabolic control, transcription regulation, and cell migration. Mutations in this gene are a cause of Noonan syndrome as well as acute myeloid leukemia. [provided by RefSeq, Aug 2016]

protein tyrosine phosphatase, non-receptor type 14

The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP contains an N-terminal noncatalytic domain similar to that of band 4.1 superfamily cytoskeleton-associated proteins, which suggested the membrane or cytoskeleton localization of this protein. It appears to regulate lymphatic development in mammals, and a loss of function mutation has been found in a kindred with a lymphedema-choanal atresia. [provided by RefSeq, Sep 2010]

long intergenic non-protein coding RNA 1091

long intergenic non-protein coding RNA 1090

long intergenic non-protein coding RNA 1093

long intergenic non-protein coding RNA 1095

long intergenic non-protein coding RNA 1094

long intergenic non-protein coding RNA 1097

long intergenic non-protein coding RNA 1096

long intergenic non-protein coding RNA 1098

long intergenic non-protein coding RNA 320

long intergenic non-protein coding RNA 323

long intergenic non-protein coding RNA 324

long intergenic non-protein coding RNA 326

long intergenic non-protein coding RNA 327

long intergenic non-protein coding RNA 328

RAB3 GTPase activating protein subunit 2 (non-catalytic)

The protein encoded by this gene belongs to the RAB3 protein family, members of which are involved in regulated exocytosis of neurotransmitters and hormones. This protein forms the Rab3 GTPase-activating complex with RAB3GAP1, where it constitutes the regulatory subunit, whereas the latter functions as the catalytic subunit. This gene has the highest level of expression in the brain, consistent with it having a key role in neurodevelopment. Mutations in this gene are associated with Martsolf syndrome.[provided by RefSeq, Oct 2009]

long intergenic non-protein coding RNA 1215

long intergenic non-protein coding RNA 1214

long intergenic non-protein coding RNA 847

long intergenic non-protein coding RNA 849

gastric cancer associated transcript 2 (non-protein coding)

gastric cancer associated transcript 1 (non-protein coding)

long intergenic non-protein coding RNA 1251

long intergenic non-protein coding RNA 1250

long intergenic non-protein coding RNA 1257

FOXC1 upstream transcript (non-protein coding)

CCDC26 long non-coding RNA

Implicated in brain cancer and high grade glioma. [provided by Alliance of Genome Resources, Mar 2025]

prostate cancer associated transcript 1 (non-protein coding)

This gene produces a long non-coding RNA that promotes cell proliferation and is upregulated in prostate, colorectal, and other cancers. This RNA negatively regulates the BRCA2 tumor suppressor protein and positively regulates Myc oncoprotein. It contains binding sites for microRNAs, and may act as a sponge for microRNAs that regulate cell growth pathways. [provided by RefSeq, Dec 2017]

prostate cancer associated transcript 2 (non-protein coding)

prostate cancer associated transcript 4 (non-protein coding)

prostate cancer associated transcript 7 (non-protein coding)

long intergenic non-protein coding RNA 1255

tyrosine-protein phosphatase non-receptor type 20

long intergenic non-protein coding RNA 1491

long intergenic non-protein coding RNA 1490

long intergenic non-protein coding RNA 1198

Biomarker of malignant astrocytoma. [provided by Alliance of Genome Resources, Mar 2025]

long intergenic non-protein coding RNA 1194

long intergenic non-protein coding RNA 1195

long intergenic non-protein coding RNA 1197

long intergenic non-protein coding RNA 1191

long intergenic non-protein coding RNA 1192

long intergenic non-protein coding RNA 1193

long intergenic non-protein coding RNA 1360

hepatocellular carcinoma up-regulated EZH2-associated long non-coding RNA

Biomarker of esophagus squamous cell carcinoma. [provided by Alliance of Genome Resources, Mar 2025]

long intergenic non-protein coding RNA 1365

non-SMC condensin I complex, subunit D2 pseudogene 1

long intergenic non-protein coding RNA 1547

Located in endoplasmic reticulum. [provided by Alliance of Genome Resources, Mar 2025]

long intergenic non-protein coding RNA 1546

long intergenic non-protein coding RNA 1545

long intergenic non-protein coding RNA 1549

long intergenic non-protein coding RNA 1548

long intergenic non-protein coding RNA 633

long intergenic non-protein coding RNA 630

long intergenic non-protein coding RNA 636

long intergenic non-protein coding RNA 637

long intergenic non-protein coding RNA 635

long intergenic non-protein coding RNA 638

long intergenic non-protein coding RNA 639

mental retardation, non-syndromic, autosomal recessive, 28

mental retardation, non-syndromic, autosomal recessive, 24

mental retardation, non-syndromic, autosomal recessive, 23

highly accelerated region 1A (non-protein coding)

immunoglobulin heavy variable 1-38-4 (non-functional)

Predicted to enable antigen binding activity. Predicted to be involved in immunoglobulin mediated immune response. Predicted to be located in extracellular region and plasma membrane. Predicted to be part of immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025]

long intergenic non-protein coding RNA 1348

SWI/SNF complex antagonist associated with prostate cancer 1 (non-protein coding)

long intergenic non-protein coding RNA 1550

long intergenic non-protein coding RNA 1551

long intergenic non-protein coding RNA 1552

long intergenic non-protein coding RNA 879

long intergenic non-protein coding RNA 877

long intergenic non-protein coding RNA 870

long intergenic non-protein coding RNA 871

long intergenic non-protein coding RNA 265-3, pseudogene

mental retardation, non-syndromic, autosomal recessive, 10

tyrosine-protein phosphatase non-receptor type 23-like

long intergenic non-protein coding RNA 969

long intergenic non-protein coding RNA 404

long intergenic non-protein coding RNA 400

long intergenic non-protein coding RNA 403

long intergenic non-protein coding RNA 402

long intergenic non-protein coding RNA 408

proteasome (prosome, macropain) 26S subunit, non-ATPase, 14

This gene encodes a component of the 26S proteasome. The 26S proteasome is a large multiprotein complex that catalyzes the degradation of ubiquitinated intracellular proteins. The encoded protein is a component of the 19S regulatory cap complex of the 26S proteasome and mediates substrate deubiquitination. A pseudogene of this gene is also located on the long arm of chromosome 2. [provided by RefSeq, Feb 2012]

proteasome (prosome, macropain) 26S subunit, non-ATPase, 11

The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. This gene encodes a member of the proteasome subunit S9 family that functions as a non-ATPase subunit of the 19S regulator and is phosphorylated by AMP-activated protein kinase. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Jul 2012]

proteasome (prosome, macropain) 26S subunit, non-ATPase, 10

This gene encodes a subunit of the PA700/19S complex, which is the regulatory component of the 26S proteasome. The 26S proteosome complex is required for ubiquitin-dependent protein degradation. This protein is a non-ATPase subunit that may be involved in protein-protein interactions. Aberrant expression of this gene may paly a role in tumorigenesis. Two transcripts encoding different isoforms have been described. Pseudogenes have been identified on chromosomes 3 and 20.[provided by RefSeq, Mar 2011]

proteasome (prosome, macropain) 26S subunit, non-ATPase, 13

The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes a non-ATPase subunit of the 19S regulator. Two transcripts encoding different isoforms have been described. [provided by RefSeq, Jul 2008]

proteasome (prosome, macropain) 26S subunit, non-ATPase, 12

The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes a non-ATPase subunit of the 19S regulator. A pseudogene has been identified on chromosome 3. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]

ATXN8 opposite strand (non-protein coding)

This gene is an antisense transcript to the KLHL1 gene (homolog to the Drosophila KELCH gene); it does not itself appear to be protein coding. A TAC/TGC trinucleotide repeat expansion that is incorporated into this gene transcript, but not the KLHL1 transcript, causes spinocerebellar ataxia type 8. Presumably the expansion interferes with normal antisense function of this transcript. [provided by RefSeq, Oct 2008]

long intergenic non-protein coding RNA 1510

This gene encodes a natural antisense transcript highly expressed in papillary thyroid carcinomas harboring BRAF V600E mutation or RET gene rearrangements. This lncRNA induces the downstream MAPK pathway and is part of a co-expression network including different oncogenes belonging to the MAPK and PI3H/AKT pathways. In thyroid carcinomas, this gene has oncogenic properties associated with increased proliferation and drug resistance. [provided by RefSeq, Jan 2020]

long intergenic non-protein coding RNA 1114

long intergenic non-protein coding RNA 1115

long intergenic non-protein coding RNA 1116

long intergenic non-protein coding RNA 1117

long intergenic non-protein coding RNA 1111

long intergenic non-protein coding RNA 1118

long intergenic non-protein coding RNA 1514

long intergenic non-protein coding RNA 244

long intergenic non-protein coding RNA 243

long intergenic non-protein coding RNA 242

long intergenic non-protein coding RNA 240

KCNQ1 downstream neighbor (non-protein coding)

Imprinting is a phenomenon in which epigenetic modifications lead to expression or suppression of alleles of some genes based on their parental origin. Wilms tumor-2 (WT2; MIM 194071) is defined by maternal-specific loss of heterozygosity of a critical region on chromosome 11p15.5 that includes several imprinted genes. KCNQ1DN is an imprinted gene located within the WT2 critical region that is expressed from the maternal allele (Xin et al., 2000 [PubMed 11056398]).[supplied by OMIM, Mar 2008]

T cell receptor beta variable 6-7 (non-functional)

Predicted to be involved in cell surface receptor signaling pathway. Predicted to be part of T cell receptor complex. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

long intergenic non-protein coding RNA 939

long intergenic non-protein coding RNA 938

long intergenic non-protein coding RNA 930

long intergenic non-protein coding RNA 933

long intergenic non-protein coding RNA 935

Predicted to be involved in flagellated sperm motility. Predicted to be located in cytoplasm; cytoskeleton; and sperm flagellum. Predicted to be active in axonemal A tubule inner sheath. [provided by Alliance of Genome Resources, Mar 2025]

long intergenic non-protein coding RNA 934

long intergenic non-protein coding RNA 937

long intergenic non-protein coding RNA 443

long intergenic non-protein coding RNA 1099

long intergenic non-protein coding RNA 322

long intergenic non-protein coding RNA 1327

long intergenic non-protein coding RNA 1324

long intergenic non-protein coding RNA 1322

long intergenic non-protein coding RNA 1320

immunoglobulin heavy diversity 3/OR15-3B (non-functional)

immunoglobulin heavy diversity 3/OR15-3A (non-functional)

inactivation escape 2 (non-protein coding)

inactivation escape 1 (non-protein coding)

X chromosome inactivation provides dosage compensation for the expression level of X-linked genes from the single X in males and the two in females. This X chromosome gene is intronless and was identified because its transcription escapes X inactivation in females. This gene does not make a protein.[provided by RefSeq, May 2010]

HLA complex group 18 (non-protein coding)

long intergenic non-protein coding RNA 433

long intergenic non-protein coding RNA 1424

long intergenic non-protein coding RNA 1425

long intergenic non-protein coding RNA 1426

long intergenic non-protein coding RNA 1427

long intergenic non-protein coding RNA 1420

Involved in negative regulation of cytoplasmic mRNA processing body assembly and nuclear-transcribed mRNA catabolic process. Located in P-body. [provided by Alliance of Genome Resources, Mar 2025]

long intergenic non-protein coding RNA 1422

long intergenic non-protein coding RNA 1423

long intergenic non-protein coding RNA 1428

family with sequence similarity 223, member A (non-protein coding)

long intergenic non-protein coding RNA 1280

long intergenic non-protein coding RNA 1281

long intergenic non-protein coding RNA 1282

long intergenic non-protein coding RNA 1284

long intergenic non-protein coding RNA 1285

long intergenic non-protein coding RNA 1287

long intergenic non-protein coding RNA 1288

long intergenic non-protein coding RNA 1289

long intergenic non-protein coding RNA 488

long intergenic non-protein coding RNA 484

long intergenic non-protein coding RNA 487

long intergenic non-protein coding RNA 486

long intergenic non-protein coding RNA 483

long intergenic non-protein coding RNA 482

T cell receptor beta variable 23/OR9-2 (non-functional)

long intergenic non-protein coding RNA 266-4, pseudogene

immunoglobulin lambda variable 5-48 (non-functional)

Predicted to be involved in immune response. Predicted to be located in extracellular region and plasma membrane. Predicted to be part of immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025]

sodium channel, non voltage gated 1 delta subunit

Enables sodium channel activity. Involved in cellular response to acidic pH; intracellular sodium ion homeostasis; and sodium ion import across plasma membrane. Located in actin cytoskeleton and membrane. Part of sodium channel complex. Is active in apical plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

sodium channel, non voltage gated 1 beta subunit

Nonvoltage-gated, amiloride-sensitive, sodium channels control fluid and electrolyte transport across epithelia in many organs. These channels are heteromeric complexes consisting of 3 subunits: alpha, beta, and gamma. This gene encodes the beta subunit, and mutations in this gene have been associated with pseudohypoaldosteronism type 1 (PHA1), and Liddle syndrome. [provided by RefSeq, Apr 2009]

sodium channel, non voltage gated 1 alpha subunit

Nonvoltage-gated, amiloride-sensitive, sodium channels control fluid and electrolyte transport across epithelia in many organs. These channels are heteromeric complexes consisting of 3 subunits: alpha, beta, and gamma. This gene encodes the alpha subunit, and mutations in this gene have been associated with pseudohypoaldosteronism type 1 (PHA1), a rare salt wasting disease resulting from target organ unresponsiveness to mineralocorticoids. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Apr 2009]

long intergenic non-protein coding RNA 1363

family with sequence similarity 225, member A (non-protein coding)

family with sequence similarity 225, member B (non-protein coding)

long intergenic non-protein coding RNA 526

long intergenic non-protein coding RNA 527

long intergenic non-protein coding RNA 524

long intergenic non-protein coding RNA 525

long intergenic non-protein coding RNA 523

long intergenic non-protein coding RNA 520

long intergenic non-protein coding RNA 521

Predicted to be located in membrane. [provided by Alliance of Genome Resources, Mar 2025]

long intergenic non-protein coding RNA 528

long intergenic non-protein coding RNA 529

long intergenic non-protein coding RNA 1499

oligodendrocyte maturation-associated long intergenic non-coding RNA

immunoglobulin heavy variable 3-35 (non-functional)

Predicted to enable antigen binding activity. Predicted to be involved in immunoglobulin mediated immune response. Predicted to be located in extracellular region and plasma membrane. Predicted to be part of immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025]

immunoglobulin heavy variable 3-38 (non-functional)

Predicted to enable antigen binding activity. Predicted to be involved in immunoglobulin mediated immune response. Predicted to be located in extracellular region and plasma membrane. Predicted to be part of immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025]

long intergenic non-protein coding RNA 200

long intergenic non-protein coding RNA 207

gastric cancer associated transcript 3 (non-protein coding)

T cell receptor beta variable 7-1 (non-functional)

Predicted to be involved in cell surface receptor signaling pathway. Predicted to be part of T cell receptor complex. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

long intergenic non-protein coding RNA 52

Predicted to be located in membrane. [provided by Alliance of Genome Resources, Mar 2025]

protein tyrosine phosphatase, non-receptor type 22 (lymphoid)

This gene encodes of member of the non-receptor class 4 subfamily of the protein-tyrosine phosphatase family. The encoded protein is a lymphoid-specific intracellular phosphatase that associates with the molecular adapter protein CBL and may be involved in regulating CBL function in the T-cell receptor signaling pathway. Mutations in this gene may be associated with a range of autoimmune disorders including Type 1 Diabetes, rheumatoid arthritis, systemic lupus erythematosus and Graves' disease. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Mar 2009]

protein tyrosine phosphatase, non-receptor type 23

This gene encodes a member of the non-receptor type protein-tyrosine phosphatase family. The encoded protein may be involved in the regulation of small nuclear ribonucleo protein assembly and pre-mRNA splicing by modifying the survival motor neuron (SMN) complex. The encoded protein additionally plays a role in ciliogenesis and is part of endosomal sorting complex required for transport (ESCRT) pathways. This gene may serve a tumor suppressor function. [provided by RefSeq, Jul 2016]

protein tyrosine phosphatase, non-receptor type 20

The product of this gene belongs to the family of classical tyrosine-specific protein tyrosine phosphatases. Many protein tyrosine phosphatases have been shown to regulate fundamental cellular processes. The encoded protein appears to be targeted to sites of actin polymerization. A pseudogene of this gene has been defined on chromosome 10. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2014]

protein tyrosine phosphatase, non-receptor type 21

The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP contains an N-terminal domain, similar to cytoskeletal- associated proteins including band 4.1, ezrin, merlin, and radixin. This PTP was shown to specially interact with BMX/ETK, a member of Tec tyrosine kinase family characterized by a multimodular structures including PH, SH3, and SH2 domains. The interaction of this PTP with BMX kinase was found to increase the activation of STAT3, but not STAT2 kinase. Studies of the similar gene in mice suggested the possible roles of this PTP in liver regeneration and spermatogenesis. [provided by RefSeq, Jul 2008]

long intergenic non-protein coding RNA 165

long intergenic non-protein coding RNA 1252

long intergenic non-protein coding RNA 1256

long intergenic non-protein coding RNA 1254

long intergenic non-protein coding RNA 1258

non-histone chromosome protein 1

long intergenic non-protein coding RNA 1590

long intergenic non-protein coding RNA 1591

long intergenic non-protein coding RNA 1592

long intergenic non-protein coding RNA 1594

long intergenic non-protein coding RNA 1599

long intergenic non-protein coding RNA 1046

long intergenic non-protein coding RNA 1047

long intergenic non-protein coding RNA 1044

long intergenic non-protein coding RNA 1043

long intergenic non-protein coding RNA 1040

long intergenic non-protein coding RNA 1049

long intergenic non-protein coding RNA 311

long intergenic non-protein coding RNA 310

long intergenic non-protein coding RNA 313

long intergenic non-protein coding RNA 312

This gene produces an intronless transcript that is thought to function as a tumor suppressor. This transcript is downregulated in nasopharyngeal carcinoma and is a negative regulator of estrogen receptor signaling. A common polymorphism in this transcript allows the production of a 94 aa open reading frame in some individuals, which may interact directly with estrogen receptor 1 (PMID:15474036). This open reading frame does not exist on the reference genome haplotype, which is hypothesized to function through a non-coding RNA product. [provided by RefSeq, Mar 2017]

long intergenic non-protein coding RNA 315

long intergenic non-protein coding RNA 314

long intergenic non-protein coding RNA 316

immunoglobulin kappa variable 3-7 (non-functional)

Predicted to be involved in immune response. Predicted to be located in extracellular region and plasma membrane. Predicted to be part of immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025]

taurine up-regulated 1 (non-protein coding)

Predicted to enable cis-regulatory region sequence-specific DNA binding activity. Predicted to act upstream of or within several processes, including mitochondrion organization; photoreceptor cell development; and spermatogenesis. Predicted to be located in mitochondrial membrane and nuclear membrane. Predicted to be active in nucleus. Biomarker of Huntington's disease. [provided by Alliance of Genome Resources, Mar 2025]

long intergenic non-protein coding RNA, muscle differentiation 1

non-SMC condensin I complex, subunit G pseudogene

non-SMC condensin II complex, subunit H2

This gene encodes one of the non-SMC subunits of the condensin II complex. This complex plays an essential role in mitotic chromosome assembly. Alternate splicing of this gene results in multiple transcript variants.[provided by RefSeq, May 2010]

long intergenic non-protein coding RNA, regulator of reprogramming

This gene produces a long non-coding RNA that regulates the reprogramming of pluripotent stem cells. This RNA suppresses induction of tumor protein p53 after DNA damage. It is thought to act as a sponge for microRNAs that regulate stem cell factors POU class 5 homeobox 1, Nanog, and SRY-box 2. This RNA may also have a extracellular role in modulating response to hypoxia in hepatocellular cancer cells. Expression of this transcript is associated with tumor progression and epithelial to mesenchymal transition and metastasis. [provided by RefSeq, Dec 2017]

long intergenic non-protein coding RNA 571

long intergenic non-protein coding RNA 1209

long intergenic non-protein coding RNA 1201

long intergenic non-protein coding RNA 1202

long intergenic non-protein coding RNA 1203

long intergenic non-protein coding RNA 1204

long intergenic non-protein coding RNA 1205

long intergenic non-protein coding RNA 1206

long intergenic non-protein coding RNA 1207

Predicted to be located in membrane. [provided by Alliance of Genome Resources, Mar 2025]

T cell receptor alpha joining 25 (non-functional)

T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining), and C (constant) segments and the delta locus also includes diversity (D) segments. The delta locus is situated within the alpha locus, between the alpha V and J segments. During T cell development, the delta chain is synthesized by a recombination event at the DNA level joining a D segment with a J segment; a V segment is then joined to the D-J gene. The alpha chain is synthesized by recombination joining a single V segment with a J segment. For both chains, the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable segments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be incapable of encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016]

long intergenic non-protein coding RNA 1452

CMT1A duplicated region transcript 7 (non-protein coding)

adenosine deaminase, RNA-specific, B2 (non-functional)

This gene encodes a member of the double-stranded RNA adenosine deaminase family of RNA-editing enzymes and may play a regulatory role in RNA editing. [provided by RefSeq, Jul 2008]

long intergenic non-protein coding RNA 1166

BST2 interferon stimulated positive regulator (non-protein coding)

long intergenic non-protein coding RNA 415

long intergenic non-protein coding RNA 411

T-cell leukemia/lymphoma 6 (non-protein coding)

spermatogenesis associated 41 (non-protein coding)

spermatogenesis associated 42 (non-protein coding)

immunoglobulin heavy variable 3/OR16-13 (non-functional)

Predicted to enable antigen binding activity. Predicted to be involved in immunoglobulin mediated immune response. Predicted to be located in extracellular region and plasma membrane. Predicted to be part of immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025]

long intergenic non-protein coding RNA 1088

long intergenic non-protein coding RNA 1518

long intergenic non-protein coding RNA 1519

long intergenic non-protein coding RNA 1516

long intergenic non-protein coding RNA 391

long intergenic non-protein coding RNA 393

long intergenic non-protein coding RNA 392

long intergenic non-protein coding RNA 395

long intergenic non-protein coding RNA 396

long intergenic non-protein coding RNA 399

long intergenic non-protein coding RNA 398

mental retardation, non-syndromic, autosomal recessive, 17

mental retardation, non-syndromic, autosomal recessive, 11

mental retardation, non-syndromic, autosomal recessive, 19

prostate cancer associated transcript 6 (non-protein coding)

HLA complex group 4 (non-protein coding)

HLA complex group 9 (non-protein coding)

This gene lies within the MHC class I region on chromosome 6p21.3. This gene is believed to be non-coding, but its function has not been determined. [provided by RefSeq, Jul 2009]

long intergenic non-protein coding RNA 152

This gene produces a long non-coding RNA that is overexpressed in cancer cells and promotes cell proliferation and epithelial-mesenchymal transition. This RNA may bind enhancer of zeste homolog 2 and participate in the transcriptional silencing of tumor suppressor genes. It may act as a sponge for microRNAs. Alternatively spliced variants have been observed. [provided by RefSeq, Dec 2017]

long intergenic non-protein coding RNA 159

long intergenic non-protein coding RNA 158

HAGLR opposite strand (non-protein coding)

long intergenic non-protein coding RNA 845

long intergenic non-protein coding RNA 844

long intergenic non-protein coding RNA 841

long intergenic non-protein coding RNA 840

long intergenic non-protein coding RNA 843

long intergenic non-protein coding RNA 842

long intergenic non-protein coding RNA 1495

long intergenic non-protein coding RNA 1494

long intergenic non-protein coding RNA 1497

long intergenic non-protein coding RNA 1496

long intergenic non-protein coding RNA 1493

long intergenic non-protein coding RNA 1492

long intergenic non-protein coding RNA 1498

X inactive specific transcript (non-protein coding)

X inactivation is an early developmental process in mammalian females that transcriptionally silences one of the pair of X chromosomes, thus providing dosage equivalence between males and females. The process is regulated by several factors, including a region of chromosome X called the X inactivation center (XIC). The XIC comprises several non-coding and protein-coding genes, and this gene was the first non-coding gene identified within the XIC. This gene is expressed exclusively from the XIC of the inactive X chromosome, and is essential for the initiation and spread of X-inactivation. The transcript is a spliced RNA. Alternatively spliced transcript variants have been identified, but their full length sequences have not been determined. Mutations in the XIST promoter cause familial skewed X inactivation. [provided by RefSeq, Apr 2012]

E2F1-regulated inhibitor of cell death (non-protein coding)

long intergenic non-protein coding RNA 458

long intergenic non-protein coding RNA 459

long intergenic non-protein coding RNA 452

long intergenic non-protein coding RNA 456

long intergenic non-protein coding RNA 457

long intergenic non-protein coding RNA 454

long intergenic non-protein coding RNA 954

long intergenic non-protein coding RNA 1128

long intergenic non-protein coding RNA 1125

Predicted to be located in membrane. [provided by Alliance of Genome Resources, Mar 2025]

long intergenic non-protein coding RNA 1124

long intergenic non-protein coding RNA 1126

long intergenic non-protein coding RNA 1121

long intergenic non-protein coding RNA 1120

long intergenic non-protein coding RNA 1123

long intergenic non-protein coding RNA 1122

long intergenic non-protein coding RNA 298

long intergenic non-protein coding RNA 299

long intergenic non-protein coding RNA 294

long intergenic non-protein coding RNA 297

long intergenic non-protein coding RNA 293

immunoglobulin kappa variable 2D-24 (non-functional)

Predicted to be involved in immune response. Predicted to be located in extracellular region and plasma membrane. Predicted to be part of immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025]

long intergenic non-protein coding RNA 364

proteasome (prosome, macropain) 26S subunit, non-ATPase, 7 pseudogene

ABL proto-oncogene 1, non-receptor tyrosine kinase

This gene is a protooncogene that encodes a protein tyrosine kinase involved in a variety of cellular processes, including cell division, adhesion, differentiation, and response to stress. The activity of the protein is negatively regulated by its SH3 domain, whereby deletion of the region encoding this domain results in an oncogene. The ubiquitously expressed protein has DNA-binding activity that is regulated by CDC2-mediated phosphorylation, suggesting a cell cycle function. This gene has been found fused to a variety of translocation partner genes in various leukemias, most notably the t(9;22) translocation that results in a fusion with the 5' end of the breakpoint cluster region gene (BCR; MIM:151410). Alternative splicing of this gene results in two transcript variants, which contain alternative first exons that are spliced to the remaining common exons. [provided by RefSeq, Aug 2014]

ABL proto-oncogene 2, non-receptor tyrosine kinase

This gene encodes a member of the Abelson family of nonreceptor tyrosine protein kinases. The protein is highly similar to the c-abl oncogene 1 protein, including the tyrosine kinase, SH2 and SH3 domains, and it plays a role in cytoskeletal rearrangements through its C-terminal F-actin- and microtubule-binding sequences. This gene is expressed in both normal and tumor cells, and is involved in translocation with the ets variant 6 gene in leukemia. Multiple alternatively spliced transcript variants encoding different protein isoforms have been found for this gene. [provided by RefSeq, Nov 2009]

T cell receptor gamma variable 10 (non-functional)

Predicted to be involved in adaptive immune response. Predicted to be located in plasma membrane. Predicted to be part of T cell receptor complex. [provided by Alliance of Genome Resources, Mar 2025]

long intergenic non-protein coding RNA 1402

long intergenic non-protein coding RNA 1024

immunoglobulin heavy variable 1/OR15-1 (non-functional)

Predicted to enable antigen binding activity. Predicted to be involved in immunoglobulin mediated immune response. Predicted to be located in extracellular region and plasma membrane. Predicted to be part of immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025]

immunoglobulin heavy variable 1/OR15-9 (non-functional)

Predicted to enable antigen binding activity. Predicted to be involved in immunoglobulin mediated immune response. Predicted to be located in extracellular region and plasma membrane. Predicted to be part of immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025]

long intergenic non-protein coding RNA 643

long intergenic non-protein coding RNA 642

long intergenic non-protein coding RNA 641

long intergenic non-protein coding RNA 640

long intergenic non-protein coding RNA 645

long intergenic non-protein coding RNA 644

long intergenic non-protein coding RNA 649

long intergenic non-protein coding RNA 648

long intergenic non-protein coding RNA 251

testis-specific transcript, Y-linked 3B (non-protein coding)

There are two copies of this gene within the P1 palindrome on chromosome Y. This record represents the more centromeric copy. [provided by RefSeq, Jul 2008]

KCNQ1 opposite strand/antisense transcript 1 (non-protein coding)

Human chromosomal region 11p15.5 contains two clusters of epigenetically-regulated genes that are expressed from only one chromosome in a parent-of-origin manner. Each cluster, or imprinted domain, is regulated by a functionally independent imprinting control region (ICR). The human CDKN1C/KCNQ1OT1 domain is regulated by an ICR located in an intron of KCNQ1, and contains at least eight genes that are expressed exclusively or preferentially from the maternally-inherited allele. The DNA of the ICR is specifically methylated on the maternally-inherited chromosome, and unmethylated on the paternally-inherited chromosome. The ICR contains the promoter of the KCNQ1OT1 gene that is exclusively expressed from the paternal allele. The KCNQ1OT1 transcript is the antisense to the KCNQ1 gene and is a unspliced long non-coding RNA. It interacts with chromatin and regulates transcription of multiple target genes through epigenetic modifications. The transcript is abnormally expressed from both chromosomes in most patients with Beckwith-Wiedemann syndrome, and the transcript also plays an important role in colorectal carcinogenesis. [provided by RefSeq, Apr 2012]

protein tyrosine phosphatase, non-receptor type 11 pseudogene

testis-specific transcript, Y-linked 17A (non-protein coding)

There are three copies of this gene on chromosome Y. This record represents the most centromeric copy. [provided by RefSeq, Jul 2008]

testis-specific transcript, Y-linked 17B (non-protein coding)

There are three copies of this gene on chromosome Y. This record represents the middle copy, which is within the P1 palindrome. [provided by RefSeq, Jul 2008]

testis-specific transcript, Y-linked 17C (non-protein coding)

There are three copies of this gene on chromosome Y. This record represents the most telomeric copy, which is within the P1 palindrome. [provided by RefSeq, Jul 2008]

mental retardation, non-syndromic, autosomal recessive, 8

ribonuclease, RNase A family, 11 (non-active)

Predicted to enable endonuclease activity and nucleic acid binding activity. Predicted to be involved in defense response to Gram-positive bacterium. Predicted to be located in extracellular region. [provided by Alliance of Genome Resources, Mar 2025]

ribonuclease, RNase A family, 10 (non-active)

Predicted to enable nucleic acid binding activity. Predicted to be involved in several processes, including defense response to Gram-positive bacterium; positive regulation of flagellated sperm motility; and regulation of fertilization. Predicted to act upstream of or within epithelial cell morphogenesis; seminiferous tubule development; and single fertilization. Predicted to be located in extracellular region. [provided by Alliance of Genome Resources, Mar 2025]

ribonuclease, RNase A family, 13 (non-active)

Predicted to enable nucleic acid binding activity. Predicted to be involved in defense response to Gram-positive bacterium. Predicted to be located in extracellular region. [provided by Alliance of Genome Resources, Mar 2025]

ribonuclease, RNase A family, 12 (non-active)

Predicted to enable RNA nuclease activity. Predicted to be involved in defense response to Gram-positive bacterium. Predicted to be located in extracellular region. [provided by Alliance of Genome Resources, Mar 2025]

immunoglobulin heavy constant gamma P (non-functional)

HLA complex group 25 (non-protein coding)

HLA complex group 27 (non-protein coding)

long intergenic non-protein coding RNA 929

long intergenic non-protein coding RNA 603

long intergenic non-protein coding RNA 1419

long intergenic non-protein coding RNA 1415

long intergenic non-protein coding RNA 1416

long intergenic non-protein coding RNA 1411

long intergenic non-protein coding RNA 1413

long intergenic non-protein coding RNA 1412

DiGeorge syndrome critical region gene 9 (non-protein coding)

DiGeorge syndrome critical region gene 5 (non-protein coding)

Biomarker of Huntington's disease. [provided by Alliance of Genome Resources, Mar 2025]

NHP2 non-histone chromosome protein 2-like 1 (S. cerevisiae) pseudogene

long intergenic non-protein coding RNA 504

long intergenic non-protein coding RNA 505

long intergenic non-protein coding RNA 506

long intergenic non-protein coding RNA 507

long intergenic non-protein coding RNA 501

long intergenic non-protein coding RNA 216

long intergenic non-protein coding RNA 210

long intergenic non-protein coding RNA 211

mental retardation, non-syndromic, autosomal recessive, 9

long intergenic non-protein coding RNA 967

long intergenic non-protein coding RNA 964

long intergenic non-protein coding RNA 965

long intergenic non-protein coding RNA 963

long intergenic non-protein coding RNA 960

long intergenic non-protein coding RNA 961

Involved in cellular response to amino acid stimulus and negative regulation of TORC1 signaling. Located in late endosome membrane and lysosomal proton-transporting V-type ATPase complex. [provided by Alliance of Genome Resources, Mar 2025]

long intergenic non-protein coding RNA 1608

long intergenic non-protein coding RNA 1609

long intergenic non-protein coding RNA 1604

long intergenic non-protein coding RNA 1605

long intergenic non-protein coding RNA 1606

long intergenic non-protein coding RNA 1607

long intergenic non-protein coding RNA 1600

long intergenic non-protein coding RNA 1601

long intergenic non-protein coding RNA 1602

long intergenic non-protein coding RNA 1603

proteasome 26S subunit, non-ATPase, 10 pseudogene 3

proteasome 26S subunit, non-ATPase, 10 pseudogene 2

proteasome 26S subunit, non-ATPase, 10 pseudogene 1

long intergenic non-protein coding RNA 559

long intergenic non-protein coding RNA 558

long intergenic non-protein coding RNA 557

long intergenic non-protein coding RNA 556

long intergenic non-protein coding RNA 555

long intergenic non-protein coding RNA 552

long intergenic non-protein coding RNA 551

long intergenic non-protein coding RNA 550

long intergenic non-protein coding RNA 1337

cancer susceptibility candidate 2 (non-protein coding)

Involved in defense response to tumor cell; negative regulation of MAPK cascade; and positive regulation of cysteine-type endopeptidase activity. [provided by Alliance of Genome Resources, Mar 2025]

cancer susceptibility candidate 6 (non-protein coding)

HLA complex group 21 (non-protein coding)

cancer susceptibility candidate 8 (non-protein coding)

HLA complex group 20 (non-protein coding)

HLA complex group 23 (non-protein coding)

long intergenic non-protein coding RNA 1375

long intergenic non-protein coding RNA 1376

long intergenic non-protein coding RNA 1377

long intergenic non-protein coding RNA 1370

long intergenic non-protein coding RNA 1378

promoter of MAT2A antisense radiation-induced circulating long non-coding RNA

Enables dsDNA-RNA triple helix-forming chromatin adaptor activity and mRNA binding activity. Involved in cellular response to ionizing radiation and regulatory ncRNA-mediated heterochromatin formation. Is active in cytosol and nucleus. [provided by Alliance of Genome Resources, Mar 2025]

long intergenic non-protein coding RNA 1484

long intergenic non-protein coding RNA 28

long intergenic non-protein coding RNA 1483

long intergenic non-protein coding RNA 160

long intergenic non-protein coding RNA 1039

long intergenic non-protein coding RNA 1038

long intergenic non-protein coding RNA 1036

long intergenic non-protein coding RNA 1033

long intergenic non-protein coding RNA 1032

long intergenic non-protein coding RNA 1031

long intergenic non-protein coding RNA 1030

proteasome (prosome, macropain) 26S subunit, non-ATPase, 8

The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes a non-ATPase subunit of the 19S regulator. A pseudogene has been identified on chromosome 1. [provided by RefSeq, Jul 2008]

proteasome (prosome, macropain) 26S subunit, non-ATPase, 5

The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. This gene encodes a non-ATPase subunit of the 19S regulator base that functions as a chaperone protein during 26S proteasome assembly. [provided by RefSeq, Jul 2012]

proteasome (prosome, macropain) 26S subunit, non-ATPase, 4

The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes one of the non-ATPase subunits of the 19S regulator lid. Pseudogenes have been identified on chromosomes 10 and 21. [provided by RefSeq, Jul 2008]

proteasome (prosome, macropain) 26S subunit, non-ATPase, 7

The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes a non-ATPase subunit of the 19S regulator. A pseudogene has been identified on chromosome 17. [provided by RefSeq, Jul 2008]

proteasome (prosome, macropain) 26S subunit, non-ATPase, 6

This gene encodes a member of the protease subunit S10 family. The encoded protein is a subunit of the 26S proteasome which colocalizes with DNA damage foci and is involved in the ATP-dependent degradation of ubiquinated proteins. Alternative splicing results in multiple transcript variants [provided by RefSeq, Nov 2012]

proteasome (prosome, macropain) 26S subunit, non-ATPase, 1

The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes the largest non-ATPase subunit of the 19S regulator lid, which is responsible for substrate recognition and binding. There is evidence that this proteasome and its subunits interact with viral proteins, including those of coronaviruses. Alternatively spliced transcript variants have been found for this gene.[provided by RefSeq, Aug 2020]

proteasome (prosome, macropain) 26S subunit, non-ATPase, 3

The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. This gene encodes a member of the proteasome subunit S3 family that functions as one of the non-ATPase subunits of the 19S regulator lid. Single nucleotide polymorphisms in this gene are associated with neutrophil count. [provided by RefSeq, Jul 2012]

proteasome (prosome, macropain) 26S subunit, non-ATPase, 2

The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes one of the non-ATPase subunits of the 19S regulator lid. In addition to participation in proteasome function, this subunit may also participate in the TNF signalling pathway since it interacts with the tumor necrosis factor type 1 receptor. A pseudogene has been identified on chromosome 1. Alternative splicing results in multiple transcript variants of this gene. [provided by RefSeq, Jul 2013]

cat eye syndrome chromosome region, candidate 9 (non-protein coding)

Predicted to be located in extracellular region. [provided by Alliance of Genome Resources, Mar 2025]

JPX transcript, XIST activator (non-protein coding)

JPX is a nonprotein-coding RNA transcribed from a gene within the X-inactivation center (XIC; MIM 314670) that appears to participate in X chromosome inactivation (Tian et al., 2010 [PubMed 21029862]).[supplied by OMIM, Feb 2011]

cofilin 1 (non-muscle) pseudogene 4

cofilin 1 (non-muscle) pseudogene 5

cofilin 1 (non-muscle) pseudogene 6

cofilin 1 (non-muscle) pseudogene 7

cofilin 1 (non-muscle) pseudogene 1

cofilin 1 (non-muscle) pseudogene 2

cofilin 1 (non-muscle) pseudogene 3

cofilin 1 (non-muscle) pseudogene 8

long intergenic non-protein coding RNA 1410

cancer susceptibility candidate 18 (non-protein coding)

long intergenic non-protein coding RNA 1231

long intergenic non-protein coding RNA 1230

long intergenic non-protein coding RNA 1233

long intergenic non-protein coding RNA 1237

long intergenic non-protein coding RNA 184

1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)-like

Predicted to enable transaminase activity. Predicted to be involved in amino acid metabolic process. [provided by Alliance of Genome Resources, Mar 2025]

long intergenic non-protein coding RNA 189

prostate androgen-regulated transcript 1 (non-protein coding)

This gene is induced by androgen in prostate adenocarcinoma cells. Multiple alternatively transcript variants have been described for this gene, none of which are predicted to encode a protein product. [provided by RefSeq, Sep 2009]

T cell receptor alpha joining 19 (non-functional)

T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining), and C (constant) segments and the delta locus also includes diversity (D) segments. The delta locus is situated within the alpha locus, between the alpha V and J segments. During T cell development, the delta chain is synthesized by a recombination event at the DNA level joining a D segment with a J segment; a V segment is then joined to the D-J gene. The alpha chain is synthesized by recombination joining a single V segment with a J segment. For both chains, the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable segments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be incapable of encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016]

H19, imprinted maternally expressed transcript (non-protein coding)

This gene is located in an imprinted region of chromosome 11 near the insulin-like growth factor 2 (IGF2) gene. This gene is only expressed from the maternally-inherited chromosome, whereas IGF2 is only expressed from the paternally-inherited chromosome. The product of this gene is a long non-coding RNA which functions as a tumor suppressor. Mutations in this gene have been associated with Beckwith-Wiedemann Syndrome and Wilms tumorigenesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]

long intergenic non-protein coding RNA 448

long stress-induced non-coding transcript 5

family with sequence similarity 230, member B (non-protein coding)

testis-specific transcript, Y-linked 23B (non-protein coding)

BRAF-activated non-protein coding RNA

This gene produces a long non-coding RNA that plays a role in tumor progression and epithelial to mesenchymal transition. This transcript acts through the MAP kinase signaling pathway. [provided by RefSeq, Dec 2017]

immunoglobulin lambda variable 1-50 (non-functional)

Predicted to be involved in immune response. Predicted to be located in extracellular region and plasma membrane. Predicted to be part of immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025]

psoriasis associated non-protein coding RNA induced by stress

long intergenic non-protein coding RNA 1179

long intergenic non-protein coding RNA 441

long intergenic non-protein coding RNA 440

long intergenic non-protein coding RNA 442

long intergenic non-protein coding RNA 445

long intergenic non-protein coding RNA 444

long intergenic non-protein coding RNA 446

long intergenic non-protein coding RNA 1234

long intergenic non-protein coding RNA 1239

T cell receptor beta joining 2-2P (non-functional)

long intergenic non-protein coding RNA 1521

long intergenic non-protein coding RNA 1520

long intergenic non-protein coding RNA 1525

long intergenic non-protein coding RNA 1524

long intergenic non-protein coding RNA 1527

long intergenic non-protein coding RNA 1529

long intergenic non-protein coding RNA 691

long intergenic non-protein coding RNA 692

long intergenic non-protein coding RNA 693

long intergenic non-protein coding RNA 698

long intergenic non-protein coding RNA 346

long intergenic non-protein coding RNA 347

long intergenic non-protein coding RNA 345

long intergenic non-protein coding RNA 342

Biomarker of Huntington's disease. [provided by Alliance of Genome Resources, Mar 2025]

long intergenic non-protein coding RNA 343

long intergenic non-protein coding RNA 341

long intergenic non-protein coding RNA 348

PCGEM1, prostate-specific transcript (non-protein coding)

This gene produces a long non-coding RNA that is overexpressed in prostate cancer and may act a marker for tumor progression. This RNA may act a negative regulator of apoptosis, and may promote activity of androgen receptor and Myc. [provided by RefSeq, Dec 2017]

spectrin, beta, non-erythrocytic 5

Enables cytoskeletal protein binding activity; dynein intermediate chain binding activity; and identical protein binding activity. Acts upstream of or within Golgi organization and lysosomal transport. Located in cytoplasm; photoreceptor connecting cilium; and photoreceptor disc membrane. [provided by Alliance of Genome Resources, Mar 2025]

spectrin, beta, non-erythrocytic 4

Spectrin is an actin crosslinking and molecular scaffold protein that links the plasma membrane to the actin cytoskeleton, and functions in the determination of cell shape, arrangement of transmembrane proteins, and organization of organelles. It is composed of two antiparallel dimers of alpha- and beta- subunits. This gene is one member of a family of beta-spectrin genes. The encoded protein localizes to the nuclear matrix, PML nuclear bodies, and cytoplasmic vesicles. A highly similar gene in the mouse is required for localization of specific membrane proteins in polarized regions of neurons. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

spectrin, beta, non-erythrocytic 2

Spectrins are principle components of a cell's membrane-cytoskeleton and are composed of two alpha and two beta spectrin subunits. The protein encoded by this gene (SPTBN2), is called spectrin beta non-erythrocytic 2 or beta-III spectrin. It is related to, but distinct from, the beta-II spectrin gene which is also known as spectrin beta non-erythrocytic 1 (SPTBN1). SPTBN2 regulates the glutamate signaling pathway by stabilizing the glutamate transporter EAAT4 at the surface of the plasma membrane. Mutations in this gene cause a form of spinocerebellar ataxia, SCA5, that is characterized by neurodegeneration, progressive locomotor incoordination, dysarthria, and uncoordinated eye movements. [provided by RefSeq, Dec 2009]

spectrin, beta, non-erythrocytic 1

Spectrin is an actin crosslinking and molecular scaffold protein that links the plasma membrane to the actin cytoskeleton, and functions in the determination of cell shape, arrangement of transmembrane proteins, and organization of organelles. It is composed of two antiparallel dimers of alpha- and beta- subunits. This gene is one member of a family of beta-spectrin genes. The encoded protein contains an N-terminal actin-binding domain, and 17 spectrin repeats which are involved in dimer formation. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

non-SMC condensin II complex, subunit G2

This gene encodes a protein that belongs to the Condensin2nSMC family of proteins. The encoded protein is a regulatory subunit of the condensin II complex which, along with the condensin I complex, plays a role in chromosome assembly and segregation during mitosis. A similar protein in mouse is required for early development of the embryo. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]

testis expressed 41 (non-protein coding)

long intergenic non-protein coding RNA 1543

long intergenic non-protein coding RNA 1541

long intergenic non-protein coding RNA 1544

long intergenic non-protein coding RNA 102

long intergenic non-protein coding RNA 290

FOXF1 adjacent non-coding developmental regulatory RNA

This gene produces a spliced long non-coding RNA transcribed bidirectionally with FOXF1 on the opposite strand. A similar gene in mouse is essential for normal development of the heart and body wall. The encoded transcript is thought to act by binding to polycomb repressive complex 2 (PRC2) and/or TrxG/MLL complexes to promote the methylation of the promoters of target genes, thus reducing their expression. It has been suggested that this transcript may play a role in the progression of gastric cancer. Alternatively spliced transcript variants have been identified. [provided by RefSeq, Mar 2015]

long intergenic non-protein coding RNA 266-3

long intergenic non-protein coding RNA 266-1

non-protein coding RNA 250

long intergenic non-protein coding RNA 632

long intergenic non-protein coding RNA 634

Involved in neuron maturation. Located in cytoplasm and nucleus. [provided by Alliance of Genome Resources, Mar 2025]

BMX non-receptor tyrosine kinase

This gene encodes a non-receptor tyrosine kinase belonging to the Tec kinase family. The protein contains a PH-like domain, which mediates membrane targeting by binding to phosphatidylinositol 3,4,5-triphosphate (PIP3), and a SH2 domain that binds to tyrosine-phosphorylated proteins and functions in signal transduction. The protein is implicated in several signal transduction pathways including the Stat pathway, and regulates differentiation and tumorigenicity of several types of cancer cells. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2016]

sigma non-opioid intracellular receptor 1

This gene encodes a receptor protein that interacts with a variety of psychotomimetic drugs, including cocaine and amphetamines. The receptor is believed to play an important role in the cellular functions of various tissues associated with the endocrine, immune, and nervous systems. As indicated by its previous name, opioid receptor sigma 1 (OPRS1), the product of this gene was erroneously thought to function as an opioid receptor; it is now thought to be a non-opioid receptor. Mutations in this gene has been associated with juvenile amyotrophic lateral sclerosis 16. Alternative splicing of this gene results in transcript variants encoding distinct isoforms. [provided by RefSeq, Aug 2013]

long intergenic non-protein coding RNA 1176

long intergenic non-protein coding RNA 1177

long intergenic non-protein coding RNA 1069

long intergenic non-protein coding RNA 1065

mental retardation, non-syndromic, autosomal recessive, 25

Prader-Willi region non-protein coding RNA 1

This gene is located in the Prader-Willi syndrome (PWS) region of chromosome 15, which is known to undergo imprinting. The transcript is believed to be non-coding. It is bi-allelically expressed in testis and kidney, but mono-allelically expressed from the paternal allele in brain. This gene is poly-adenylated and is known to undergo alternative splicing. Transcript variants may represent part of a complex imprinting center-SNURF-SNRPN transcription unit. The contribution of this gene to the PWS phenotype is unknown, but it has been suggested that it may play a role in establishing paternal imprinting in the PWS region, perhaps by maintaining the paternal allele in an open chromatin configuration. [provided by RefSeq, Sep 2009]

Prader-Willi region non-protein coding RNA 2

Prader-Willi region non-protein coding RNA 3

long intergenic non-protein coding RNA 862

Predicted to be located in membrane. [provided by Alliance of Genome Resources, Mar 2025]

non-SMC element 4 homolog A (S. cerevisiae) pseudogene

long intergenic non-protein coding RNA 333

long intergenic non-protein coding RNA 331

long intergenic non-protein coding RNA 1468

long intergenic non-protein coding RNA 1003

long intergenic non-protein coding RNA 618

long intergenic non-protein coding RNA 619

long intergenic non-protein coding RNA 610

long intergenic non-protein coding RNA 612

long intergenic non-protein coding RNA 613

long intergenic non-protein coding RNA 614

long intergenic non-protein coding RNA 615

long intergenic non-protein coding RNA 616

proteasome (prosome, macropain) 26S subunit, non-ATPase, 4 pseudogene 1

long intergenic non-protein coding RNA 1435

protein tyrosine phosphatase, non-receptor type 3

The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This protein contains a C-terminal PTP domain and an N-terminal domain homologous to the band 4.1 superfamily of cytoskeletal-associated proteins. P97, a cell cycle regulator involved in a variety of membrane related functions, has been shown to be a substrate of this PTP. This PTP was also found to interact with, and be regulated by adaptor protein 14-3-3 beta. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2009]

mental retardation, non-syndromic, autosomal recessive, 4

testis-specific transcript, Y-linked 6B (non-protein coding)

There are two copies of this locus in the P3 palindrome on chromosome Y. This record represents the more centromeric copy. [provided by RefSeq, Jul 2008]

long intergenic non-protein coding RNA 1151

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

long intergenic non-protein coding RNA 968

long intergenic non-protein coding RNA 1005

long intergenic non-protein coding RNA 892

long intergenic non-protein coding RNA 893

long intergenic non-protein coding RNA 890

Predicted to be located in membrane. Predicted to be active in intracellular membrane-bounded organelle. [provided by Alliance of Genome Resources, Mar 2025]

long intergenic non-protein coding RNA 891

long intergenic non-protein coding RNA 896

long intergenic non-protein coding RNA 894

long intergenic non-protein coding RNA 895

long intergenic non-protein coding RNA 898

long intergenic non-protein coding RNA 899

eosinophil granule ontogeny transcript (non-protein coding)

Biomarker of congestive heart failure. [provided by Alliance of Genome Resources, Mar 2025]

immunoglobulin heavy diversity 1-14 (non-functional)

long intergenic non-protein coding RNA 1442

long intergenic non-protein coding RNA 1443

long intergenic non-protein coding RNA 1440

long intergenic non-protein coding RNA 1446

long intergenic non-protein coding RNA 1447

long intergenic non-protein coding RNA 1444

long intergenic non-protein coding RNA 1445

long intergenic non-protein coding RNA 1448

long intergenic non-protein coding RNA 1449

myosin, light chain 12A, regulatory, non-sarcomeric

This gene encodes a nonsarcomeric myosin regulatory light chain. This protein is activated by phosphorylation and regulates smooth muscle and non-muscle cell contraction. This protein may also be involved in DNA damage repair by sequestering the transcriptional regulator apoptosis-antagonizing transcription factor (AATF)/Che-1 which functions as a repressor of p53-driven apoptosis. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 8.[provided by RefSeq, Dec 2014]

non-SMC condensin I complex, subunit G pseudogene

HLA complex group 26 (non-protein coding) pseudogene

HLA complex group 26 (non-protein coding) pseudogene

HLA complex group 26 (non-protein coding) pseudogene

protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte) pseudogene

long intergenic non-protein coding RNA 229

long intergenic non-protein coding RNA 226

long intergenic non-protein coding RNA 221

long intergenic non-protein coding RNA 222

apoptotic BCL2L1-antisense long non-coding RNA

long intergenic non-protein coding RNA 917

long intergenic non-protein coding RNA 911

long intergenic non-protein coding RNA 910

long intergenic non-protein coding RNA 1515

disrupted in schizophrenia 2 (non-protein coding)

DISC2 is thought to specify a noncoding RNA molecule antisense to DISC1 (MIM 605210). Both genes were found to be disrupted by a translocation in a large schizophrenia (MIM 181500) kindred.[supplied by OMIM, Jul 2002]

immunoglobulin heavy diversity 4-11 (non-functional)

immunoglobulin heavy diversity 2/OR15-2B (non-functional)

immunoglobulin heavy diversity 2/OR15-2A (non-functional)

psoriasis susceptibility 1 candidate 3 (non-protein coding)

long intergenic non-protein coding RNA 1349

long intergenic non-protein coding RNA 1344

long intergenic non-protein coding RNA 1347

long intergenic non-protein coding RNA 1346

long intergenic non-protein coding RNA 1341

long intergenic non-protein coding RNA 1340

long intergenic non-protein coding RNA 1343

long intergenic non-protein coding RNA 1342

long intergenic non-protein coding RNA 1264

immunoglobulin kappa variable 6D-41 (non-functional)

Predicted to be involved in immune response. Predicted to be located in extracellular region and plasma membrane. Predicted to be part of immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025]

protein tyrosine phosphatase, non-receptor type 2 pseudogene 2

immunoglobulin heavy variable 4/OR15-8 (non-functional)

Predicted to enable antigen binding activity. Predicted to be involved in immunoglobulin mediated immune response. Predicted to be located in extracellular region and plasma membrane. Predicted to be part of immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025]

long intergenic non-protein coding RNA 710

immunoglobulin lambda variable 3-32 (non-functional)

Predicted to be involved in immune response. Predicted to be located in extracellular region and plasma membrane. Predicted to be part of immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025]

cancer susceptibility candidate 7 (non-protein coding)

long intergenic non-protein coding RNA 498

long intergenic non-protein coding RNA 499

cancer susceptibility candidate 9 (non-protein coding)

non imprinted in Prader-Willi/Angelman syndrome 2 pseudogene 3

non imprinted in Prader-Willi/Angelman syndrome 2 pseudogene 2

non imprinted in Prader-Willi/Angelman syndrome 2 pseudogene 1

non imprinted in Prader-Willi/Angelman syndrome 2 pseudogene 5

non imprinted in Prader-Willi/Angelman syndrome 2 pseudogene 4

non-histone chromosomal protein HMG-17 pseudogene

proteasome (prosome, macropain) 26S subunit, non-ATPase, 12 pseudogene

proteasome (prosome, macropain) 26S subunit, non-ATPase, 7 pseudogene

proteasome (prosome, macropain) 26S subunit, non-ATPase, 7 pseudogene

T cell receptor beta variable 17 (non-functional)

Predicted to be involved in cell surface receptor signaling pathway. Predicted to be part of T cell receptor complex. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

long intergenic non-protein coding RNA 997

long intergenic non-protein coding RNA 994

long intergenic non-protein coding RNA 993

long intergenic non-protein coding RNA 992

long intergenic non-protein coding RNA 999

long intergenic non-protein coding RNA 998

Involved in negative regulation of type I interferon-mediated signaling pathway. Located in endoplasmic reticulum membrane and mitochondrial membrane. [provided by Alliance of Genome Resources, Mar 2025]

N-acylsphingosine amidohydrolase (non-lysosomal ceramidase) 2

Ceramidases (EC 3.5.1.23), such as ASAH2, catalyze hydrolysis of the N-acyl linkage of ceramide, a second messenger in a variety of cellular events, to produce sphingosine. Sphingosine exerts both mitogenic and apoptosis-inducing activities, and its phosphorylated form functions as an intra- and intercellular second messenger (see MIM 603730) (Mitsutake et al., 2001 [PubMed 11328816]).[supplied by OMIM, Mar 2008]

non-SMC condensin I complex, subunit H

This gene encodes a member of the barr gene family and a regulatory subunit of the condensin complex. This complex is required for the conversion of interphase chromatin into condensed chromosomes. The protein encoded by this gene is associated with mitotic chromosomes, except during the early phase of chromosome condensation. During interphase, the protein has a distinct punctate nucleolar localization. Alternatively spliced transcript variants encoding different proteins have been described. [provided by RefSeq, Jul 2013]

non-SMC condensin I complex, subunit G

This gene encodes a subunit of the condensin complex, which is responsible for the condensation and stabilization of chromosomes during mitosis and meiosis. Phosphorylation of the encoded protein activates the condensin complex. There are pseudogenes for this gene on chromosomes 8 and 15. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012]