Harmonizome 3.0

peptidylglycine alpha-amidating monooxygenase

This gene encodes a multifunctional protein. The encoded preproprotein is proteolytically processed to generate the mature enzyme. This enzyme includes two domains with distinct catalytic activities, a peptidylglycine alpha-hydroxylating monooxygenase (PHM) domain and a peptidyl-alpha-hydroxyglycine alpha-amidating lyase (PAL) domain. These catalytic domains work sequentially to catalyze the conversion of neuroendocrine peptides to active alpha-amidated products. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed. [provided by RefSeq, Jan 2016]

deltex 3 like, E3 ubiquitin ligase

Enables several functions, including STAT family protein binding activity; histone H4K91 ubiquitin ligase activity; and protein ADP-ribosyltransferase-substrate adaptor activity. Involved in several processes, including positive regulation of protein localization; protein ubiquitination; and regulation of macromolecule metabolic process. Located in several cellular components, including early endosome; lysosome; and nucleoplasm. Part of protein-containing complex. [provided by Alliance of Genome Resources, Mar 2025]

deltex 4, E3 ubiquitin ligase

Enables ubiquitin protein ligase activity. Involved in negative regulation of innate immune response; proteasome-mediated ubiquitin-dependent protein catabolic process; and protein K48-linked ubiquitination. Is active in centrosome. [provided by Alliance of Genome Resources, Mar 2025]

deltex 1, E3 ubiquitin ligase

Studies in Drosophila have identified this gene as encoding a positive regulator of the Notch-signaling pathway. The human gene encodes a protein of unknown function; however, it may play a role in basic helix-loop-helix transcription factor activity. [provided by RefSeq, Jul 2008]

deltex 2, E3 ubiquitin ligase

DTX2 functions as an E3 ubiquitin ligase (Takeyama et al., 2003 [PubMed 12670957]).[supplied by OMIM, Nov 2009]

deltex 3, E3 ubiquitin ligase

DTX3 functions as an E3 ubiquitin ligase (Takeyama et al., 2003 [PubMed 12670957]).[supplied by OMIM, Nov 2009]

ORC ubiquitin ligase 1

Enables chromatin binding activity and ubiquitin-protein transferase activity. Involved in protein autoubiquitination; protein monoubiquitination; and regulation of DNA replication. Located in chromatin. [provided by Alliance of Genome Resources, Mar 2025]

COP1 E3 ubiquitin ligase

Enables ubiquitin protein ligase activity. Involved in positive regulation of proteasomal ubiquitin-dependent protein catabolic process; proteasome-mediated ubiquitin-dependent protein catabolic process; and response to ionizing radiation. Part of Cul4A-RING E3 ubiquitin ligase complex. [provided by Alliance of Genome Resources, Mar 2025]

arkadia (RNF111) C-terminal like ring finger ubiquitin ligase 2C

Predicted to enable ubiquitin protein ligase activity. Predicted to be involved in motor neuron axon guidance and positive regulation of BMP signaling pathway. Predicted to act upstream of or within several processes, including forelimb morphogenesis; nervous system development; and protein polyubiquitination. Predicted to be part of protein-containing complex. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Mar 2025]

ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase) pseudogene

ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase)

The protein encoded by this gene belongs to the peptidase C12 family. This enzyme is a thiol protease that hydrolyzes a peptide bond at the C-terminal glycine of ubiquitin. This gene is specifically expressed in the neurons and in cells of the diffuse neuroendocrine system. Mutations in this gene may be associated with Parkinson disease.[provided by RefSeq, Sep 2009]

ubiquitin carboxyl-terminal esterase L3 (ubiquitin thiolesterase)

The protein encoded by this gene is a member of the deubiquitinating enzyme family. Members of this family are proteases that catalyze the removal of ubiquitin from polypeptides and are divided into five classes, depending on the mechanism of catalysis. This protein may hydrolyze the ubiquitinyl-N-epsilon amide bond of ubiquitinated proteins to regenerate ubiquitin for another catalytic cycle. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Aug 2012]

ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase) pseudogene

succinate-CoA ligase, ADP-forming, beta subunit pseudogene

glutamate-ammonia ligase

The protein encoded by this gene belongs to the glutamine synthetase family. It catalyzes the synthesis of glutamine from glutamate and ammonia in an ATP-dependent reaction. This protein plays a role in ammonia and glutamate detoxification, acid-base homeostasis, cell signaling, and cell proliferation. Glutamine is an abundant amino acid, and is important to the biosynthesis of several amino acids, pyrimidines, and purines. Mutations in this gene are associated with congenital glutamine deficiency, and overexpression of this gene was observed in some primary liver cancer samples. There are six pseudogenes of this gene found on chromosomes 2, 5, 9, 11, and 12. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]

succinate-CoA ligase, ADP-forming, beta subunit pseudogene

succinate-CoA ligase, ADP-forming, beta subunit pseudogene

tubulin tyrosine ligase-like family member 11

Predicted to enable tubulin binding activity and tubulin-glutamic acid ligase activity. Predicted to be involved in microtubule cytoskeleton organization. Predicted to act upstream of or within microtubule severing and protein polyglutamylation. Predicted to be located in cytosol. Predicted to be active in ciliary basal body. [provided by Alliance of Genome Resources, Mar 2025]

tubulin tyrosine ligase-like family member 10

Predicted to enable protein-glycine ligase activity, elongating. Predicted to be involved in protein polyglycylation. Predicted to be located in axoneme and microtubule cytoskeleton. [provided by Alliance of Genome Resources, Mar 2025]

tubulin tyrosine ligase-like family member 12

Enables H4K20me3 modified histone binding activity and tubulin binding activity. Involved in negative regulation of type I interferon-mediated signaling pathway and regulation of mitotic cell cycle. Located in cytosol and plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

ligase IV, DNA, ATP-dependent

The protein encoded by this gene is a DNA ligase that joins single-strand breaks in a double-stranded polydeoxynucleotide in an ATP-dependent reaction. This protein is essential for V(D)J recombination and DNA double-strand break (DSB) repair through nonhomologous end joining (NHEJ). This protein forms a complex with the X-ray repair cross complementing protein 4 (XRCC4), and further interacts with the DNA-dependent protein kinase (DNA-PK). Both XRCC4 and DNA-PK are known to be required for NHEJ. The crystal structure of the complex formed by this protein and XRCC4 has been resolved. Defects in this gene are the cause of LIG4 syndrome. Alternatively spliced transcript variants encoding the same protein have been observed. [provided by RefSeq, Jul 2008]

ligase I, DNA, ATP-dependent

This gene encodes a member of the ATP-dependent DNA ligase protein family. The encoded protein functions in DNA replication, recombination, and the base excision repair process. Mutations in this gene that lead to DNA ligase I deficiency result in immunodeficiency and increased sensitivity to DNA-damaging agents. Disruption of this gene may also be associated with a variety of cancers. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]

ligase III, DNA, ATP-dependent

This gene is a member of the DNA ligase family. Each member of this family encodes a protein that catalyzes the joining of DNA ends but they each have a distinct role in DNA metabolism. The protein encoded by this gene is involved in excision repair and is located in both the mitochondria and nucleus, with translation initiation from the upstream start codon allowing for transport to the mitochondria and translation initiation from a downstream start codon allowing for transport to the nucleus. Additionally, alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]

succinate-CoA ligase, ADP-forming, beta subunit pseudogene 1

succinate-CoA ligase, ADP-forming, beta subunit pseudogene 2

succinate-CoA ligase, ADP-forming, beta subunit pseudogene 3

tubulin tyrosine ligase-like family member 13, pseudogene

Predicted to enable tubulin binding activity and tubulin-glutamic acid ligase activity. Predicted to be involved in microtubule bundle formation. Predicted to be located in cytosol. Predicted to be active in ciliary basal body. [provided by Alliance of Genome Resources, Mar 2025]

phosphopantothenate--cysteine ligase pseudogene

succinate-CoA ligase, ADP-forming, beta subunit pseudogene

succinate-CoA ligase, ADP-forming, beta subunit pseudogene

5,10-methenyltetrahydrofolate synthetase (5-formyltetrahydrofolate cyclo-ligase)

The protein encoded by this gene is an enzyme that catalyzes the conversion of 5-formyltetrahydrofolate to 5,10-methenyltetrahydrofolate, a precursor of reduced folates involved in 1-carbon metabolism. An increased activity of the encoded protein can result in an increased folate turnover rate and folate depletion. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jun 2011]

tubulin tyrosine ligase-like family member 5

This gene encodes a member of the tubulin tyrosine ligase like protein family. This protein interacts with two glucocorticoid receptor coactivators, transcriptional intermediary factor 2 and steroid receptor coactivator 1. This protein may function as a coregulator of glucocorticoid receptor mediated gene induction and repression. This protein may also function as an alpha tubulin polyglutamylase.[provided by RefSeq, Feb 2010]

tubulin tyrosine ligase-like family member 4

Predicted to enable tubulin binding activity and tubulin-glutamic acid ligase activity. Predicted to be involved in microtubule cytoskeleton organization and protein polyglutamylation. Predicted to act upstream of or within regulation of blastocyst development. Predicted to be located in cytosol. Predicted to be active in ciliary basal body. [provided by Alliance of Genome Resources, Mar 2025]

tubulin tyrosine ligase-like family member 7

Enables alpha-tubulin binding activity; beta-tubulin binding activity; and tubulin-glutamic acid ligase activity. Involved in protein polyglutamylation. Predicted to be located in 9+0 non-motile cilium. Predicted to be active in ciliary basal body. [provided by Alliance of Genome Resources, Mar 2025]

tubulin tyrosine ligase-like family member 6

Predicted to enable tubulin binding activity and tubulin-glutamic acid ligase activity. Predicted to be involved in microtubule bundle formation; protein polyglutamylation; and regulation of cilium beat frequency involved in ciliary motility. Predicted to act upstream of or within microtubule severing and positive regulation of cilium movement. Located in ciliary basal body. [provided by Alliance of Genome Resources, Mar 2025]

tubulin tyrosine ligase-like family member 1

Enables tubulin-glutamic acid ligase activity. Involved in microtubule cytoskeleton organization. Is active in microtubule. [provided by Alliance of Genome Resources, Mar 2025]

tubulin tyrosine ligase-like family member 3

Enables protein-glycine ligase activity. Predicted to be involved in several processes, including axoneme assembly; flagellated sperm motility; and protein polyglycylation. Predicted to be located in cilium. Predicted to be active in axoneme; microtubule cytoskeleton; and sperm flagellum. [provided by Alliance of Genome Resources, Mar 2025]

tubulin tyrosine ligase-like family member 2

Predicted to enable tubulin binding activity and tubulin-glutamic acid ligase activity. Predicted to be involved in microtubule cytoskeleton organization. Predicted to be active in ciliary basal body. [provided by Alliance of Genome Resources, Mar 2025]

tubulin tyrosine ligase-like family member 9

Predicted to enable tubulin binding activity and tubulin-glutamic acid ligase activity. Predicted to be involved in flagellated sperm motility and microtubule cytoskeleton organization. Predicted to act upstream of or within protein polyglutamylation. Predicted to be located in cytoplasm; microtubule; and motile cilium. Predicted to be active in ciliary basal body. [provided by Alliance of Genome Resources, Mar 2025]

tubulin tyrosine ligase-like family member 8

Predicted to enable protein-glycine ligase activity, initiating. Predicted to be involved in several processes, including axoneme assembly; flagellated sperm motility; and protein polyglycylation. Predicted to act upstream of or within cilium assembly. Predicted to be located in cilium. Predicted to be active in axoneme; microtubule cytoskeleton; and sperm flagellum. [provided by Alliance of Genome Resources, Mar 2025]

succinate-CoA ligase, ADP-forming, beta subunit pseudogene

tubulin tyrosine ligase

TTL is a cytosolic enzyme involved in the posttranslational modification of alpha-tubulin (see MIM 602529). Alpha-tubulin within assembled microtubules is detyrosinated over time at the C terminus. After microtubule disassembly, TTL restores the tyrosine residues and consequently participates in a cycle of tubulin detyrosination and tyrosination (Erck et al., 2003 [PubMed 14571137]).[supplied by OMIM, Mar 2008]

glutamate-cysteine ligase, modifier subunit

Glutamate-cysteine ligase, also known as gamma-glutamylcysteine synthetase, is the first rate limiting enzyme of glutathione synthesis. The enzyme consists of two subunits, a heavy catalytic subunit and a light regulatory subunit. Gamma glutamylcysteine synthetase deficiency has been implicated in some forms of hemolytic anemia. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2015]

glutamate-cysteine ligase, catalytic subunit

Glutamate-cysteine ligase, also known as gamma-glutamylcysteine synthetase is the first rate-limiting enzyme of glutathione synthesis. The enzyme consists of two subunits, a heavy catalytic subunit and a light regulatory subunit. This locus encodes the catalytic subunit, while the regulatory subunit is derived from a different gene located on chromosome 1p22-p21. Mutations at this locus have been associated with hemolytic anemia due to deficiency of gamma-glutamylcysteine synthetase and susceptibility to myocardial infarction.[provided by RefSeq, Oct 2010]

succinate-CoA ligase, ADP-forming, beta subunit

Succinyl-CoA synthetase (SCS) is a mitochondrial matrix enzyme that acts as a heterodimer, being composed of an invariant alpha subunit and a substrate-specific beta subunit. The protein encoded by this gene is an ATP-specific SCS beta subunit that dimerizes with the SCS alpha subunit to form SCS-A, an essential component of the tricarboxylic acid cycle. SCS-A hydrolyzes ATP to convert succinate to succinyl-CoA. Defects in this gene are a cause of myopathic mitochondrial DNA depletion syndrome. A pseudogene of this gene has been found on chromosome 6. [provided by RefSeq, Jul 2008]

holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)

This gene encodes an enzyme that catalyzes the binding of biotin to carboxylases and histones. The protein plays an important role in gluconeogenesis, fatty acid synthesis and branched chain amino acid catabolism. Defects in this gene are the cause of holocarboxylase synthetase deficiency. Multiple alternatively spliced variants, encoding the same protein, have been identified.[provided by RefSeq, Jun 2011]

RNA 2',3'-cyclic phosphate and 5'-OH ligase

Enables RNA ligase (GTP) activity and vinculin binding activity. Involved in tRNA splicing, via endonucleolytic cleavage and ligation. Located in cytosol and nucleoplasm. Part of tRNA-splicing ligase complex. [provided by Alliance of Genome Resources, Mar 2025]

succinate-CoA ligase, GDP-forming, beta subunit pseudogene 4

succinate-CoA ligase, GDP-forming, beta subunit pseudogene 2

succinate-CoA ligase, GDP-forming, beta subunit pseudogene 3

succinate-CoA ligase, GDP-forming, beta subunit pseudogene 1

glutamate-ammonia ligase (glutamine synthetase) pseudogene 1

glutamate-ammonia ligase (glutamine synthetase) pseudogene 2

glutamate-ammonia ligase (glutamine synthetase) pseudogene 3

glutamate-ammonia ligase (glutamine synthetase) pseudogene 4

glutamate-ammonia ligase (glutamine synthetase) pseudogene 5

glutamate-ammonia ligase (glutamine synthetase) pseudogene 6

succinate-CoA ligase, ADP-forming, beta subunit pseudogene

succinate-CoA ligase, ADP-forming, beta subunit pseudogene

succinate-CoA ligase, ADP-forming, beta subunit pseudogene

succinate-CoA ligase, ADP-forming, beta subunit pseudogene

UFM1-specific ligase 1

Enables UFM1 ligase activity and protein kinase binding activity. Involved in several processes, including positive regulation of reticulophagy; regulation of intracellular signal transduction; and regulation of primary metabolic process. Acts upstream of or within several processes, including positive regulation of cell population proliferation; regulation of proteasomal ubiquitin-dependent protein catabolic process; and response to endoplasmic reticulum stress. Located in cytoplasm; nucleus; and site of double-strand break. Part of protein-containing complex. Is active in endoplasmic reticulum membrane and mitochondrial outer membrane. [provided by Alliance of Genome Resources, Mar 2025]

succinate-CoA ligase, GDP-forming, beta subunit

This gene encodes a GTP-specific beta subunit of succinyl-CoA synthetase. Succinyl-CoA synthetase catalyzes the reversible reaction involving the formation of succinyl-CoA and succinate. Alternate splicing results in multiple transcript variants. Pseudogenes of this gene are found on chromosomes 5 and 12. [provided by RefSeq, Apr 2010]

succinate-CoA ligase, alpha subunit

This gene encodes the alpha subunit of the heterodimeric enzyme succinate coenzyme A ligase. This enzyme is targeted to the mitochondria and catalyzes the conversion of succinyl CoA and ADP or GDP to succinate and ATP or GTP. Mutations in this gene are the cause of the metabolic disorder fatal infantile lactic acidosis and mitochondrial DNA depletion. [provided by RefSeq, Feb 2010]

tubulin tyrosine ligase like 13

Predicted to enable tubulin binding activity and tubulin-glutamic acid ligase activity. Predicted to be involved in microtubule bundle formation. Predicted to be located in cytosol. Predicted to be active in ciliary basal body. [provided by Alliance of Genome Resources, Mar 2025]

RNA 5'-phosphate and 3'-OH ligase 1

Enables RNA ligase (ATP) activity. Involved in response to reactive oxygen species. [provided by Alliance of Genome Resources, Mar 2025]

tRNA splicing ligase complex subunit 1

Predicted to enable metal ion binding activity. Involved in tRNA splicing, via endonucleolytic cleavage and ligation. Part of tRNA-splicing ligase complex. [provided by Alliance of Genome Resources, Mar 2025]

tRNA splicing ligase complex subunit 3B

Enables identical protein binding activity and protein methyltransferase activity. Involved in positive regulation of cell population proliferation; positive regulation of gene expression; and protein methylation. Located in cytoplasm and nucleoplasm. Part of tRNA-splicing ligase complex. [provided by Alliance of Genome Resources, Mar 2025]

tRNA splicing ligase complex subunit 2

Predicted to be involved in tRNA splicing, via endonucleolytic cleavage and ligation. Located in nucleoplasm. Part of tRNA-splicing ligase complex. [provided by Alliance of Genome Resources, Mar 2025]

tRNA splicing ligase complex subunit 3C

Predicted to be part of tRNA-splicing ligase complex. [provided by Alliance of Genome Resources, Mar 2025]

tRNA splicing ligase complex subunit 3A

Enables protein methyltransferase activity. Involved in positive regulation of cell population proliferation; positive regulation of gene expression; and protein methylation. Predicted to be part of tRNA-splicing ligase complex. [provided by Alliance of Genome Resources, Mar 2025]

ubiquitin-conjugating enzyme E2 variant 1 pseudogene

ubiquitin-conjugating enzyme E2Q family member 2

Enables ubiquitin-protein transferase activity. Involved in protein K48-linked ubiquitination. Predicted to be located in cytosol. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Mar 2025]

ubiquitin specific peptidase 17-like family member 30

Enables RNA binding activity; cysteine-type deubiquitinase activity; and hyaluronic acid binding activity. Involved in positive regulation of epithelial cell apoptotic process and protein deubiquitination involved in ubiquitin-dependent protein catabolic process. Located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

ubiquitin specific peptidase 10 pseudogene 1

ubiquitin specific peptidase10 pseudogene 2

ubiquitin-conjugating enzyme E2, J1

The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes, or E1s, ubiquitin-conjugating enzymes, or E2s, and ubiquitin-protein ligases, or E3s. This gene encodes a member of the E2 ubiquitin-conjugating enzyme family. This enzyme is located in the membrane of the endoplasmic reticulum (ER) and may contribute to quality control ER-associated degradation by the ubiquitin-proteasome system. [provided by RefSeq, Jul 2008]

ubiquitin-conjugating enzyme E2 variant 1 pseudogene

ubiquitin-fold modifier 1 pseudogene

ubiquitin specific peptidase 8 pseudogene

ubiquitin fusion degradation 1 like (yeast)

The protein encoded by this gene forms a complex with two other proteins, nuclear protein localization-4 and valosin-containing protein, and this complex is necessary for the degradation of ubiquitinated proteins. In addition, this complex controls the disassembly of the mitotic spindle and the formation of a closed nuclear envelope after mitosis. Mutations in this gene have been associated with Catch 22 syndrome as well as cardiac and craniofacial defects. Alternative splicing results in multiple transcript variants encoding different isoforms. A related pseudogene has been identified on chromosome 18. [provided by RefSeq, Jun 2009]

small ubiquitin-like modifier 1 pseudogene

ubiquitin specific peptidase 32 pseudogene 1

ubiquitin specific peptidase 32 pseudogene 2

ubiquitin specific peptidase 32 pseudogene 4

ubiquitin-conjugating enzyme E2Q family member 2 pseudogene 11

ubiquitin-conjugating enzyme E2Q family member 2 pseudogene 12

transmembrane and ubiquitin-like domain containing 1

Involved in ERAD pathway. Predicted to be located in several cellular components, including centrosome; postsynaptic membrane; and recycling endosome. Predicted to be active in postsynaptic recycling endosome membrane. [provided by Alliance of Genome Resources, Mar 2025]

transmembrane and ubiquitin-like domain containing 2

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

ubiquitin specific peptidase 9, X-linked

This gene is a member of the peptidase C19 family and encodes a protein that is similar to ubiquitin-specific proteases. Though this gene is located on the X chromosome, it escapes X-inactivation. Mutations in this gene have been associated with Turner syndrome. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]

ubiquitin specific peptidase 9, Y-linked

This gene is a member of the peptidase C19 family. It encodes a protein that is similar to ubiquitin-specific proteases, which cleave the ubiquitin moiety from ubiquitin-fused precursors and ubiquitinylated proteins. [provided by RefSeq, Mar 2009]

ubiquitin specific peptidase 9, Y-linked pseudogene 34

ubiquitin specific peptidase 9, Y-linked pseudogene 30

ubiquitin specific peptidase 17-like family member 3

Predicted to enable cysteine-type deubiquitinase activity. Predicted to be involved in regulation of apoptotic process and regulation of protein stability. Predicted to be located in endoplasmic reticulum. Predicted to be active in cytosol and nucleus. [provided by Alliance of Genome Resources, Mar 2025]

ubiquitin-like modifier activating enzyme 6

Modification of proteins with ubiquitin (UBB; MIM 191339) or ubiquitin-like proteins controls many signaling networks and requires a ubiquitin-activating enzyme (E1), a ubiquitin conjugating enzyme (E2), and a ubiquitin protein ligase (E3). UBE1L2 is an E1 enzyme that initiates the activation and conjugation of ubiquitin-like proteins (Jin et al., 2007 [PubMed 17597759]).[supplied by OMIM, Mar 2008]

ubiquitin-like modifier activating enzyme 5

This gene encodes a member of the E1-like ubiquitin-activating enzyme family. This protein activates ubiquitin-fold modifier 1, a ubiquitin-like post-translational modifier protein, via the formation of a high-energy thioester bond. Alternative splicing results in multiple transcript variants. A pseudogene of this gene has been identified on chromosome 1. [provided by RefSeq, Feb 2016]

ubiquitin-like modifier activating enzyme 2

Posttranslational modification of proteins by the addition of the small protein SUMO (see SUMO1; MIM 601912), or sumoylation, regulates protein structure and intracellular localization. SAE1 (MIM 613294) and UBA2 form a heterodimer that functions as a SUMO-activating enzyme for the sumoylation of proteins (Okuma et al., 1999 [PubMed 9920803]).[supplied by OMIM, Mar 2010]

ubiquitin-like modifier activating enzyme 3

The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes, or E1s, ubiquitin-conjugating enzymes, or E2s, and ubiquitin-protein ligases, or E3s. This gene encodes a member of the E1 ubiquitin-activating enzyme family. The encoded enzyme associates with AppBp1, an amyloid beta precursor protein binding protein, to form a heterodimer, and then the enzyme complex activates NEDD8, a ubiquitin-like protein, which regulates cell division, signaling and embryogenesis. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

ubiquitin-like modifier activating enzyme 1

The protein encoded by this gene catalyzes the first step in ubiquitin conjugation to mark cellular proteins for degradation. This gene complements an X-linked mouse temperature-sensitive defect in DNA synthesis, and thus may function in DNA repair. It is part of a gene cluster on chromosome Xp11.23. Alternatively spliced transcript variants that encode the same protein have been described. [provided by RefSeq, Jul 2008]

ubiquitin-conjugating enzyme E2D 3 pseudogene 3

ubiquitin-conjugating enzyme E2D 3 pseudogene 2

ubiquitin-conjugating enzyme E2D 3 pseudogene 1

ubiquitin-conjugating enzyme E2D 3 pseudogene 4

ubiquitin specific peptidase 12

Enables cysteine-type deubiquitinase activity and cysteine-type endopeptidase activity. Involved in protein deubiquitination. Located in cytoplasm; nucleus; and plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

ubiquitin specific peptidase 10

Ubiquitin is a highly conserved protein that is covalently linked to other proteins to regulate their function and degradation. This gene encodes a member of the ubiquitin-specific protease family of cysteine proteases. The enzyme specifically cleaves ubiquitin from ubiquitin-conjugated protein substrates. The protein is found in the nucleus and cytoplasm. It functions as a co-factor of the DNA-bound androgen receptor complex, and is inhibited by a protein in the Ras-GTPase pathway. The human genome contains several pseudogenes similar to this gene. Several transcript variants, some protein-coding and others not protein-coding, have been found for this gene. [provided by RefSeq, Jan 2013]

ubiquitin specific peptidase 11

Protein ubiquitination controls many intracellular processes, including cell cycle progression, transcriptional activation, and signal transduction. This dynamic process, involving ubiquitin conjugating enzymes and deubiquitinating enzymes, adds and removes ubiquitin. Deubiquitinating enzymes are cysteine proteases that specifically cleave ubiquitin from ubiquitin-conjugated protein substrates. This gene encodes a deubiquitinating enzyme which lies in a gene cluster on chromosome Xp11.23 [provided by RefSeq, Jul 2008]

ubiquitin specific peptidase 16

This gene encodes a deubiquitinating enzyme that is phosphorylated at the onset of mitosis and then dephosphorylated at the metaphase/anaphase transition. It can deubiquitinate H2A, one of two major ubiquitinated proteins of chromatin, in vitro and a mutant form of the protein was shown to block cell division. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]

ubiquitin specific peptidase 14 (tRNA-guanine transglycosylase)

This gene encodes a member of the ubiquitin-specific processing (UBP) family of proteases that is a deubiquitinating enzyme (DUB) with His and Cys domains. This protein is located in the cytoplasm and cleaves the ubiquitin moiety from ubiquitin-fused precursors and ubiquitinylated proteins. Mice with a mutation that results in reduced expression of the ortholog of this protein are retarded for growth, develop severe tremors by 2 to 3 weeks of age followed by hindlimb paralysis and death by 6 to 10 weeks of age. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]

ubiquitin specific peptidase 15

This gene encodes a member of the ubiquitin specific protease (USP) family of deubiquitinating enzymes. USP enzymes play critical roles in ubiquitin-dependent processes through polyubiquitin chain disassembly and hydrolysis of ubiquitin-substrate bonds. The encoded protein associates with the COP9 signalosome, and also plays a role in transforming growth factor beta signalling through deubiquitination of receptor-activated SMAD transcription factors. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 2. [provided by RefSeq, Nov 2011]

ubiquitin specific peptidase 18

The protein encoded by this gene belongs to the ubiquitin-specific proteases (UBP) family of enzymes that cleave ubiquitin from ubiquitinated protein substrates. It is highly expressed in liver and thymus, and is localized to the nucleus. This protein efficiently cleaves only ISG15 (a ubiquitin-like protein) fusions, and deletion of this gene in mice results in a massive increase of ISG15 conjugates in tissues, indicating that this protein is a major ISG15-specific protease. Mice lacking this gene are also hypersensitive to interferon, suggesting a function of this protein in downregulating interferon responses, independent of its isopeptidase activity towards ISG15. [provided by RefSeq, Sep 2011]

ubiquitin specific peptidase 19

Protein ubiquitination controls many intracellular processes, including cell cycle progression, transcriptional activation, and signal transduction. This dynamic process, involving ubiquitin conjugating enzymes and deubiquitinating enzymes, adds and removes ubiquitin. Deubiquitinating enzymes are cysteine proteases that specifically cleave ubiquitin from ubiquitin-conjugated protein substrates. This protein is a ubiquitin protein ligase and plays a role in muscle wasting. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2017]

ubiquitin-like 4A

Enables protein-folding chaperone binding activity. Involved in establishment of protein localization to membrane; regulation of protein stability; and ubiquitin-dependent protein catabolic process. Located in cytosol; membrane; and nucleoplasm. Part of BAT3 complex. [provided by Alliance of Genome Resources, Mar 2025]

ubiquitin specific peptidase 35

This gene encodes a member of the peptidase C19 family of ubiquitin-specific proteases. These deubiquitinating enzymes (DUBs) catalyze the removal of ubiquitin proteins from other proteins. The encoded protein associates with polarized mitochondria and has been shown to inhibit NF-kappa B activation and delay PARK2-mediated degradation of mitochondria. Expression of this gene is upregulated by the let-7a microRNA and reduced expression has been observed in human tumor tissues. [provided by RefSeq, Jul 2017]

ubiquitin specific peptidase 36

This gene encodes a member of the peptidase C19 or ubiquitin-specific protease family of cysteine proteases. Members of this family remove ubiquitin molecules from polyubiquitinated proteins. The encoded protein may deubiquitinate and stabilize the transcription factor c-Myc, also known as MYC, an important oncoprotein known to be upregulated in most human cancers. The encoded protease may also regulate the activation of autophagy. This gene exhibits elevated expression in some breast and lung cancers. [provided by RefSeq, Mar 2016]

ubiquitin-conjugating enzyme E2 variant 1 pseudogene 9

ubiquitin-conjugating enzyme E2 variant 1 pseudogene 6

ubiquitin-conjugating enzyme E2 variant 1 pseudogene 5

ubiquitin-conjugating enzyme E2 variant 1 pseudogene 3

ubiquitin-conjugating enzyme E2 variant 1 pseudogene 2

ubiquitin-conjugating enzyme E2 variant 1 pseudogene 1

ubiquitin-conjugating enzyme E2R 2

Protein kinase CK2 is a ubiquitous and pleiotropic Ser/Thr protein kinase involved in cell growth and transformation. This gene encodes a protein similar to the E2 ubiquitin conjugating enzyme UBC3/CDC34. Studies suggest that CK2-dependent phosphorylation of this ubiquitin-conjugating enzyme functions by regulating beta-TrCP substrate recognition and induces its interaction with beta-TrCP, enhancing beta-catenin degradation. [provided by RefSeq, Jul 2008]

ubiquitin specific peptidase 8 pseudogene 1

ubiquitin specific peptidase 17-like family member 2 pseudogene

ubiquitin-conjugating enzyme E2, J2

The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes, or E1s, ubiquitin-conjugating enzymes, or E2s, and ubiquitin-protein ligases, or E3s. This gene encodes a member of the E2 ubiquitin-conjugating enzyme family. This enzyme is located in the membrane of the endoplasmic reticulum. Multiple alternatively spliced transcript variants have been found for this gene, but the full-length nature of some variants has not been defined. [provided by RefSeq, Jul 2008]

ubiquitin-conjugating enzyme E2L 3 pseudogene

ubiquitin-conjugating enzyme E2 variant 1 pseudogene

ubiquitin-conjugating enzyme E2D 4 (putative) pseudogene

ubiquitin-conjugating enzyme E2Q family member 2 pseudogene 4, Y-linked

ubiquitin-conjugating enzyme E2N pseudogene 1

ubiquitin-conjugating enzyme E2C pseudogene 1

ubiquitin-conjugating enzyme E2C pseudogene 2

ubiquitin-conjugating enzyme E2C pseudogene 3

ubiquitin-conjugating enzyme E2C pseudogene 4

ubiquitin-conjugating enzyme E2C pseudogene 5

ubiquitin-conjugating enzyme E2L 3 pseudogene

ubiquitin-conjugating enzyme E2G 2

The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes, or E1s, ubiquitin-conjugating enzymes, or E2s, and ubiquitin-protein ligases, or E3s. This gene encodes a member of the E2 ubiquitin-conjugating enzyme family. The encoded protein shares 100% sequence identity with the mouse counterpart. This gene is ubiquitously expressed, with high expression seen in adult muscle. Three alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jan 2011]

ubiquitin-conjugating enzyme E2G 1

The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes, or E1s, ubiquitin-conjugating enzymes, or E2s, and ubiquitin-protein ligases, or E3s. This gene encodes a member of the E2 ubiquitin-conjugating enzyme family and catalyzes the covalent attachment of ubiquitin to other proteins. The protein may be involved in degradation of muscle-specific proteins. [provided by RefSeq, Jul 2008]

ubiquitin-conjugating enzyme E2Q family member 2 pseudogene 5, Y-linked

ubiquitin specific peptidase 17-like family member 21

Predicted to enable cysteine-type deubiquitinase activity. Predicted to be involved in regulation of apoptotic process and regulation of protein stability. Predicted to be located in endoplasmic reticulum. Predicted to be active in cytosol and nucleus. [provided by Alliance of Genome Resources, Mar 2025]

OTU deubiquitinase, ubiquitin aldehyde binding 1

The product of this gene is a member of the OTU (ovarian tumor) superfamily of predicted cysteine proteases. The encoded protein is a highly specific ubiquitin iso-peptidase, and cleaves ubiquitin from branched poly-ubiquitin chains but not from ubiquitinated substrates. It interacts with another ubiquitin protease and an E3 ubiquitin ligase that inhibits cytokine gene transcription in the immune system. It is proposed to function in specific ubiquitin-dependent pathways, possibly by providing an editing function for polyubiquitin chain growth. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2008]

OTU deubiquitinase, ubiquitin aldehyde binding 2

This gene encodes one of several deubiquitylating enzymes. Ubiquitin modification of proteins is needed for their stability and function; to reverse the process, deubiquityling enzymes remove ubiquitin. This protein contains an OTU domain and binds Ubal (ubiquitin aldehyde); an active cysteine protease site is present in the OTU domain. [provided by RefSeq, Aug 2011]

ubiquitin specific peptidase 9, Y-linked pseudogene 3

ubiquitin specific peptidase 9, Y-linked pseudogene 5

ubiquitin specific peptidase 9, Y-linked pseudogene 4

ubiquitin specific peptidase 9, Y-linked pseudogene 1

ubiquitin specific peptidase 9, Y-linked pseudogene 2

ubiquitin-conjugating enzyme E2 variant 1 pseudogene

ubiquitin-conjugating enzyme E2 variant 1 pseudogene

ubiquitin-conjugating enzyme E2D 4 (putative) pseudogene

ubiquitin-like with PHD and ring finger domains 1

This gene encodes a member of a subfamily of RING-finger type E3 ubiquitin ligases. The protein binds to specific DNA sequences, and recruits a histone deacetylase to regulate gene expression. Its expression peaks at late G1 phase and continues during G2 and M phases of the cell cycle. It plays a major role in the G1/S transition by regulating topoisomerase IIalpha and retinoblastoma gene expression, and functions in the p53-dependent DNA damage checkpoint. It is regarded as a hub protein for the integration of epigenetic information. This gene is up-regulated in various cancers, and it is therefore considered to be a therapeutic target. Multiple transcript variants encoding different isoforms have been found for this gene. A related pseudogene exists on chromosome 12. [provided by RefSeq, Feb 2014]

ubiquitin-like 5

This gene encodes a member of a group of proteins similar to ubiquitin. The encoded protein is not thought to degrade proteins like ubiquitin but to affect their function through being bound to target proteins by an isopeptide bond. The gene product has been studied as a link to predisposition to obesity based on its expression in Psammomys obesus, the fat sand rat, which is an animal model for obesity studies. Variation in this gene was found to be significantly associated with some metabolic traits (PMID: 15331561) but not associated with childhood obesity (PMID: 19189687). Pseudogenes of this gene are located on chromosomes 3, 5 and 17. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Jan 2013]

ubiquitin-like 7

Enables molecular adaptor activity. Predicted to be involved in ubiquitin-dependent protein catabolic process. Is active in cytoplasm. [provided by Alliance of Genome Resources, Mar 2025]

ubiquitin-like 3

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

ubiquitin specific peptidase 17-like family member 28

Enables RNA binding activity; cysteine-type deubiquitinase activity; and hyaluronic acid binding activity. Involved in positive regulation of epithelial cell apoptotic process and protein deubiquitination involved in ubiquitin-dependent protein catabolic process. Located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

ubiquitin specific peptidase 17-like family member 22

Predicted to enable cysteine-type deubiquitinase activity. Predicted to be involved in regulation of apoptotic process and regulation of protein stability. Predicted to be located in endoplasmic reticulum. Predicted to be active in cytosol and nucleus. [provided by Alliance of Genome Resources, Mar 2025]

ubiquitin specific peptidase 17-like family member 23

Predicted to enable cysteine-type deubiquitinase activity. Predicted to be involved in protein deubiquitination. Predicted to be located in endoplasmic reticulum and nucleus. [provided by Alliance of Genome Resources, Mar 2025]

ubiquitin specific peptidase 17-like family member 20

Predicted to enable cysteine-type deubiquitinase activity. Predicted to be involved in regulation of apoptotic process and regulation of protein stability. Predicted to be located in endoplasmic reticulum. Predicted to be active in cytosol and nucleus. [provided by Alliance of Genome Resources, Mar 2025]

ubiquitin-conjugating enzyme E2L 6

The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes (E1s), ubiquitin-conjugating enzymes (E2s) and ubiquitin-protein ligases (E3s). This gene encodes a member of the E2 ubiquitin-conjugating enzyme family. This enzyme is highly similar in primary structure to the enzyme encoded by the UBE2L3 gene. Two alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, May 2011]

ubiquitin-conjugating enzyme E2L 4 (pseudogene)

ubiquitin-conjugating enzyme E2L 3

The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes (E1s), ubiquitin-conjugating enzymes (E2s) and ubiquitin-protein ligases (E3s). This gene encodes a member of the E2 ubiquitin-conjugating enzyme family. This enzyme is demonstrated to participate in the ubiquitination of p53, c-Fos, and the NF-kB precursor p105 in vitro. Several alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2009]

ubiquitin-conjugating enzyme E2L 1 (pseudogene)

ubiquitin specific peptidase 4 (proto-oncogene) pseudogene

ubiquitin specific peptidase 21 pseudogene

ubiquitin fusion degradation 1 like (yeast) pseudogene

ubiquitin family domain containing 1

Enables RNA binding activity and cadherin binding activity. [provided by Alliance of Genome Resources, Mar 2025]

ubiquitin-conjugating enzyme E2E 4 pseudogene

ubiquitin-conjugating enzyme E2L 5 (pseudogene)

Predicted to enable ubiquitin conjugating enzyme activity. Predicted to be involved in protein K11-linked ubiquitination and ubiquitin-dependent protein catabolic process. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Mar 2025]

ubiquitin-conjugating enzyme E2D 4 (putative)

Enables ubiquitin conjugating enzyme activity. Involved in protein polyubiquitination. Acts upstream of or within protein ubiquitination. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Mar 2025]

ubiquitin-conjugating enzyme E2D 2

Regulated degradation of misfolded, damaged or short-lived proteins in eukaryotes occurs via the ubiquitin (Ub)-proteasome system (UPS). An integral part of the UPS system is the ubiquitination of target proteins and covalent linkage of Ub-containing proteins to form polymeric chains, marking them as targets for 26S proteasome-mediated degradation. Ubiquitination of proteins is mediated by a cascade of enzymes which includes E1 (ubiquitin activating), E2 (ubiquitin conjugating), and E3 (ubiquitin ligases) enzymes. This gene encodes a member of the E2 enzyme family. Substrates of this enzyme include the tumor suppressor protein p53 and peroxisomal biogenesis factor 5 (PEX5). Alternative splicing results in multiple transcript variants of this gene. [provided by RefSeq, May 2013]

ubiquitin-conjugating enzyme E2D 3

The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes, or E1s, ubiquitin-conjugating enzymes, or E2s, and ubiquitin-protein ligases, or E3s. This gene encodes a member of the E2 ubiquitin-conjugating enzyme family. This enzyme functions in the ubiquitination of the tumor-suppressor protein p53, which is induced by an E3 ubiquitin-protein ligase. [provided by RefSeq, Jan 2017]

ubiquitin-conjugating enzyme E2D 1

The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes, or E1s, ubiquitin-conjugating enzymes, or E2s, and ubiquitin-protein ligases, or E3s. This gene encodes a member of the E2 ubiquitin-conjugating enzyme family. This enzyme is closely related to a stimulator of iron transport (SFT), and is up-regulated in hereditary hemochromatosis. It also functions in the ubiquitination of the tumor-suppressor protein p53 and the hypoxia-inducible transcription factor HIF1alpha by interacting with the E1 ubiquitin-activating enzyme and the E3 ubiquitin-protein ligases. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2011]

ubiquitin-conjugating enzyme E2Q family member 2 pseudogene 10

ubiquitin specific peptidase 7 (herpes virus-associated) pseudogene

ubiquitin D pseudogene 1

ubiquitin-conjugating enzyme E2 variant 1-like

ubiquitin-conjugating enzyme E2F (putative) pseudogene

ubiquitin specific peptidase 9, Y-linked pseudogene 11

ubiquitin specific peptidase 9, Y-linked pseudogene 10

ubiquitin specific peptidase 9, Y-linked pseudogene 13

ubiquitin specific peptidase 9, Y-linked pseudogene 12

ubiquitin specific peptidase 12 pseudogene

ubiquitin specific peptidase 21 pseudogene

ubiquitin specific peptidase 22

Enables deubiquitinase activity; enzyme binding activity; and nuclear receptor coactivator activity. Contributes to histone H4 acetyltransferase activity. Involved in several processes, including G2/M transition of mitotic cell cycle; protein deubiquitination; and regulation of gene expression. Part of SAGA complex. [provided by Alliance of Genome Resources, Mar 2025]

ubiquitin-fold modifier 1

UFM1 is a ubiquitin-like protein that is conjugated to target proteins by E1-like activating enzyme UBA5 (UBE1DC1; MIM 610552) and E2-like conjugating enzyme UFC1 (MIM 610554) in a manner analogous to ubiquitylation (see UBE2M; MIM 603173) (Komatsu et al., 2004 [PubMed 15071506]).[supplied by OMIM, Dec 2008]

ubiquitin specific peptidase 17-like family member 2

Enables cysteine-type deubiquitinase activity. Involved in several processes, including CAAX-box protein processing; protein deubiquitination; and regulation of defense response. Located in endoplasmic reticulum membrane and nucleus. [provided by Alliance of Genome Resources, Mar 2025]

ubiquitin specific peptidase 17-like family member 1

Predicted to enable cysteine-type deubiquitinase activity. Predicted to be involved in regulation of apoptotic process and regulation of protein stability. Predicted to be located in endoplasmic reticulum. Predicted to be active in cytosol and nucleus. [provided by Alliance of Genome Resources, Mar 2025]

ubiquitin specific peptidase 17-like family member 7

Predicted to enable cysteine-type deubiquitinase activity. Predicted to be involved in regulation of apoptotic process and regulation of protein stability. Predicted to be located in endoplasmic reticulum. Predicted to be active in cytosol and nucleus. [provided by Alliance of Genome Resources, Mar 2025]

ubiquitin specific peptidase 17-like family member 5

Predicted to enable cysteine-type deubiquitinase activity and lncRNA binding activity. Predicted to be involved in regulation of apoptotic process and regulation of protein stability. Predicted to act upstream of or within protein deubiquitination. Predicted to be located in endoplasmic reticulum. Predicted to be active in cytosol and nucleus. [provided by Alliance of Genome Resources, Mar 2025]

ubiquitin specific peptidase 17-like family member 4

Predicted to enable cysteine-type deubiquitinase activity. Predicted to be involved in regulation of apoptotic process and regulation of protein stability. Predicted to be located in endoplasmic reticulum. Predicted to be active in cytosol and nucleus. [provided by Alliance of Genome Resources, Mar 2025]

ubiquitin specific peptidase 17-like family member 8

Predicted to enable cysteine-type deubiquitinase activity. Predicted to be involved in regulation of apoptotic process and regulation of protein stability. Predicted to be located in endoplasmic reticulum. Predicted to be active in cytosol and nucleus. [provided by Alliance of Genome Resources, Mar 2025]

ubiquitin specific peptidase 8 pseudogene

ubiquitin specific peptidase 8 pseudogene

ubiquitin specific peptidase 38

Enables cysteine-type deubiquitinase activity and protein sequestering activity. Involved in negative regulation of innate immune response; negative regulation of proteasomal ubiquitin-dependent protein catabolic process; and protein K33-linked deubiquitination. Is active in cytoplasm. [provided by Alliance of Genome Resources, Mar 2025]

ubiquitin specific peptidase 39

Predicted to enable cysteine-type deubiquitinase activity and zinc ion binding activity. Involved in spliceosomal complex assembly. Located in nucleoplasm. Part of U4/U6 x U5 tri-snRNP complex. [provided by Alliance of Genome Resources, Mar 2025]

ubiquitin specific peptidase 30

USP30, a member of the ubiquitin-specific protease family (see USP1, MIM 603478), is a novel mitochondrial deubiquitinating (DUB) enzyme (Nakamura and Hirose, 2008 [PubMed 18287522]).[supplied by OMIM, Dec 2008]

ubiquitin specific peptidase 31

Enables cysteine-type deubiquitinase activity. Predicted to be involved in protein deubiquitination and proteolysis. Located in nucleus. [provided by Alliance of Genome Resources, Mar 2025]

ubiquitin specific peptidase 32

Enables cysteine-type deubiquitinase activity. Involved in positive regulation of TORC1 signaling. Located in cytosol. Is active in Golgi apparatus. [provided by Alliance of Genome Resources, Mar 2025]

ubiquitin specific peptidase 33

This gene encodes a deubiquinating enzyme important in a variety of processes, including Slit-dependent cell migration and beta-2 adrenergic receptor signaling. The protein is negatively regulated through ubiquitination by von Hippel-Lindau tumor protein (VHL). Alternative splicing results in multiple transcript variants and protein isoforms. [provided by RefSeq, Jun 2012]

ubiquitin specific peptidase 34

Enables cysteine-type deubiquitinase activity and cysteine-type endopeptidase activity. Involved in positive regulation of canonical Wnt signaling pathway and protein K48-linked deubiquitination. Predicted to be active in cytosol and nucleus. [provided by Alliance of Genome Resources, Mar 2025]

ubiquitin specific peptidase 37

Enables cysteine-type deubiquitinase activity; cysteine-type endopeptidase activity; and protein kinase binding activity. Involved in G1/S transition of mitotic cell cycle; protein deubiquitination; and regulation of DNA replication. Located in nucleus. [provided by Alliance of Genome Resources, Mar 2025]

ankyrin repeat and ubiquitin domain containing 1

ubiquitin D

This gene encodes a protein which contains two ubiquitin-like domains and appears to have similar function to ubiquitin. Through covalent attachment, the encoded protein targets other proteins for 26S proteasome degradation. This protein has been implicated to function in many cellular processes, including caspase-dependent apoptosis, formation of aggresomes, mitotic regulation, and dendritic cell maturation. Upregulation of this gene may promote inflammation in chronic kidney disease and has been observed in many cancer types. [provided by RefSeq, Aug 2017]

ubiquitin B

This gene encodes ubiquitin, one of the most conserved proteins known. Ubiquitin has a major role in targeting cellular proteins for degradation by the 26S proteosome. It is also involved in the maintenance of chromatin structure, the regulation of gene expression, and the stress response. Ubiquitin is synthesized as a precursor protein consisting of either polyubiquitin chains or a single ubiquitin moiety fused to an unrelated protein. This gene consists of three direct repeats of the ubiquitin coding sequence with no spacer sequence. Consequently, the protein is expressed as a polyubiquitin precursor with a final amino acid after the last repeat. An aberrant form of this protein has been detected in patients with Alzheimer's disease and Down syndrome. Pseudogenes of this gene are located on chromosomes 1, 2, 13, and 17. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]

ubiquitin C

This gene represents a ubiquitin gene, ubiquitin C. The encoded protein is a polyubiquitin precursor. Conjugation of ubiquitin monomers or polymers can lead to various effects within a cell, depending on the residues to which ubiquitin is conjugated. Ubiquitination has been associated with protein degradation, DNA repair, cell cycle regulation, kinase modification, endocytosis, and regulation of other cell signaling pathways. [provided by RefSeq, Aug 2010]

ubiquitin specific peptidase 17-like family member 29

Enables RNA binding activity; cysteine-type deubiquitinase activity; and hyaluronic acid binding activity. Involved in positive regulation of epithelial cell apoptotic process and protein deubiquitination involved in ubiquitin-dependent protein catabolic process. Located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

ubiquitin specific peptidase 17-like family member 26

Enables RNA binding activity; cysteine-type deubiquitinase activity; and hyaluronic acid binding activity. Involved in positive regulation of epithelial cell apoptotic process and protein deubiquitination involved in ubiquitin-dependent protein catabolic process. Located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

ubiquitin specific peptidase 17-like family member 27

Enables RNA binding activity; cysteine-type deubiquitinase activity; and hyaluronic acid binding activity. Involved in positive regulation of epithelial cell apoptotic process and protein deubiquitination involved in ubiquitin-dependent protein catabolic process. Located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

ubiquitin specific peptidase 17-like family member 24

Enables RNA binding activity; cysteine-type deubiquitinase activity; and hyaluronic acid binding activity. Involved in positive regulation of epithelial cell apoptotic process and protein deubiquitination involved in ubiquitin-dependent protein catabolic process. Located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

ubiquitin specific peptidase 17-like family member 25

Enables RNA binding activity; cysteine-type deubiquitinase activity; and hyaluronic acid binding activity. Involved in positive regulation of epithelial cell apoptotic process and protein deubiquitination involved in ubiquitin-dependent protein catabolic process. Located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

ubiquitin-conjugating enzyme E2 variant 1 pseudogene

ubiquitin-conjugating enzyme E2N pseudogene

ubiquitin specific peptidase 8 pseudogene

ubiquitin specific peptidase 8 pseudogene

ubiquitin specific peptidase 8 pseudogene

ubiquitin specific peptidase 8 pseudogene

ubiquitin domain containing 2

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

ubiquitin domain containing 1

The degradation of many proteins is carried out by the ubiquitin pathway in which proteins are targeted for degradation by covalent conjugation of the polypeptide ubiquitin. This gene encodes a protein that belongs to the ubiquitin family of proteins. The encoded protein is thought to regulate E2 ubiquitin conjugating enzymes belonging to the UBE2D family. [provided by RefSeq, Mar 2014]

ubiquitin specific peptidase like 1

Enables SUMO binding activity and deSUMOylase activity. Involved in several processes, including Cajal body organization; protein desumoylation; and snRNA transcription. Located in Cajal body. [provided by Alliance of Genome Resources, Mar 2025]

ubiquitin-conjugating enzyme E2 variant 1 pseudogene

ubiquitin carboxyl-terminal hydrolase L5

Enables cysteine-type deubiquitinase activity; endopeptidase inhibitor activity; and proteasome binding activity. Involved in several processes, including positive regulation of smoothened signaling pathway; protein deubiquitination; and regulation of primary metabolic process. Located in cytosol and nuclear lumen. [provided by Alliance of Genome Resources, Mar 2025]

ubiquitin specific peptidase 9, Y-linked pseudogene 22

ubiquitin specific peptidase 9, Y-linked pseudogene 23

ubiquitin specific peptidase 17-like family member 22 pseudogene

ubiquitin-conjugating enzyme E2 variant 1-like

ubiquitin specific peptidase 17-like family member 16, pseudogene

ubiquitin-conjugating enzyme E2 variant 1 pseudogene

ubiquitin-conjugating enzyme E2N pseudogene

ubiquitin-fold modifier conjugating enzyme 1 pseudogene

ubiquitin-conjugating enzyme E2L 2 (pseudogene)

ubiquitin associated and SH3 domain containing A

This gene encodes one of two family members belonging to the T-cell ubiquitin ligand (TULA) family. Both family members can negatively regulate T-cell signaling. This family member can facilitate growth factor withdrawal-induced apoptosis in T cells, which may occur via its interaction with AIF, an apoptosis-inducing factor. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Aug 2011]

ubiquitin associated and SH3 domain containing B

This gene encodes a protein that contains a ubiquitin associated domain at the N-terminus, an SH3 domain, and a C-terminal domain with similarities to the catalytic motif of phosphoglycerate mutase. The encoded protein was found to inhibit endocytosis of epidermal growth factor receptor (EGFR) and platelet-derived growth factor receptor. [provided by RefSeq, Jul 2008]

ubiquitin-conjugating enzyme E2F (putative) pseudogene 1

ubiquitin family domain containing 1 pseudogene 1

ubiquitin-conjugating enzyme E2Q family member 1

The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes (E1s), ubiquitin-conjugating enzymes (E2s), and ubiquitin-protein ligases (E3s). This gene encodes a member of the E2 ubiquitin-conjugating enzyme family. The encoded protein is 98% identical to the mouse counterpart. [provided by RefSeq, Jul 2008]

ubiquitin-conjugating enzyme E2N-like (gene/pseudogene)

This gene is intronless and encodes a member of the ubiquitin-conjugating enzyme family. The protein product is 91% identical to ubiquitin-conjugating enzyme E2N, a multi-exon gene product. This locus represents a polymorphic pseudogene, where some individuals contain an allele that can encode a full-length protein, while others have a non-functional allele containing a premature stop codon (reference SNP rs237520) that truncates the coding sequence. [provided by RefSeq, Jun 2014]

ubiquitin specific peptidase 10 pseudogene

ubiquitin-conjugating enzyme E2 variant 1 pseudogene

ubiquitin-conjugating enzyme E2W pseudogene 1

ubiquitin-conjugating enzyme E2I

The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes, or E1s, ubiquitin-conjugating enzymes, or E2s, and ubiquitin-protein ligases, or E3s. This gene encodes a member of the E2 ubiquitin-conjugating enzyme family. Four alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]

ubiquitin-conjugating enzyme E2O

Enables ubiquitin conjugating enzyme activity and ubiquitin protein ligase activity. Involved in positive regulation of BMP signaling pathway; protein ubiquitination; and retrograde transport, endosome to Golgi. Located in cytoplasm and nuclear body. [provided by Alliance of Genome Resources, Mar 2025]

ubiquitin-conjugating enzyme E2B

The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes, or E1s, ubiquitin-conjugating enzymes, or E2s, and ubiquitin-protein ligases, or E3s. This gene encodes a member of the E2 ubiquitin-conjugating enzyme family. This enzyme is required for post-replicative DNA damage repair. Its protein sequence is 100% identical to the mouse, rat, and rabbit homologs, which indicates that this enzyme is highly conserved in eukaryotic evolution. [provided by RefSeq, Jul 2008]

ubiquitin-conjugating enzyme E2M pseudogene 1

ubiquitin specific peptidase 13 (isopeptidase T-3)

Enables several functions, including BAT3 complex binding activity; peptidase activity; and proteasome binding activity. Involved in several processes, including maintenance of unfolded protein; regulation of DNA-templated transcription; and regulation of catabolic process. Acts upstream of or within protein deubiquitination and protein stabilization. Predicted to be located in nucleoplasm. Predicted to be active in cytosol and nucleus. [provided by Alliance of Genome Resources, Mar 2025]

ubiquitin specific peptidase 8 pseudogene

ubiquitin specific peptidase 8 pseudogene

ubiquitin specific peptidase 8 pseudogene

ubiquitin specific peptidase 8 pseudogene

ubiquitin specific peptidase 8 pseudogene

ubiquitin specific peptidase 8 pseudogene

ubiquitin-like modifier activating enzyme 7

The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes, or E1s, ubiquitin-conjugating enzymes, or E2s, and ubiquitin-protein ligases, or E3s. This gene encodes a member of the E1 ubiquitin-activating enzyme family. The encoded enzyme is a retinoid target that triggers promyelocytic leukemia (PML)/retinoic acid receptor alpha (RARalpha) degradation and apoptosis in acute promyelocytic leukemia, where it is involved in the conjugation of the ubiquitin-like interferon-stimulated gene 15 protein. [provided by RefSeq, Jul 2008]

ubiquitin specific peptidase 54

Enables cysteine-type deubiquitinase activity. Predicted to be involved in protein deubiquitination and proteolysis. [provided by Alliance of Genome Resources, Mar 2025]

ubiquitin specific peptidase 53

Predicted to enable cysteine-type deubiquitinase activity. Predicted to be involved in response to auditory stimulus and sensory perception of sound. Predicted to act upstream of or within action potential; epithelial cell apoptotic process; and outer hair cell apoptotic process. Located in bicellular tight junction. Implicated in progressive familial intrahepatic cholestasis. [provided by Alliance of Genome Resources, Mar 2025]

ubiquitin specific peptidase 50

Enables cysteine-type deubiquitinase activity. Involved in regulation of cell cycle G2/M phase transition. Acts upstream of or within several processes, including nuclear speck organization; positive regulation of NLRP3 inflammasome complex assembly; and positive regulation of macromolecule metabolic process. Located in centrosome; cytoplasm; and nucleus. [provided by Alliance of Genome Resources, Mar 2025]

ubiquitin specific peptidase 51

Enables chromatin binding activity; deubiquitinase activity; and histone binding activity. Involved in DNA repair-dependent chromatin remodeling; regulation of cell cycle process; and regulation of double-strand break repair. Predicted to be located in chromosome. [provided by Alliance of Genome Resources, Mar 2025]

ubiquitin specific peptidase 15 pseudogene

homocysteine-inducible, endoplasmic reticulum stress-inducible, ubiquitin-like domain member 1

The accumulation of unfolded proteins in the endoplasmic reticulum (ER) triggers the ER stress response. This response includes the inhibition of translation to prevent further accumulation of unfolded proteins, the increased expression of proteins involved in polypeptide folding, known as the unfolded protein response (UPR), and the destruction of misfolded proteins by the ER-associated protein degradation (ERAD) system. This gene may play a role in both UPR and ERAD. Its expression is induced by UPR and it has an ER stress response element in its promoter region while the encoded protein has an N-terminal ubiquitin-like domain which may interact with the ERAD system. This protein has been shown to interact with presenilin proteins and to increase the level of amyloid-beta protein following its overexpression. Alternative splicing of this gene produces multiple transcript variants encoding different isoforms. The full-length nature of all transcript variants has not been determined. [provided by RefSeq, Jan 2013]

ubiquitin-conjugating enzyme E2F (putative) pseudogene

ubiquitin-conjugating enzyme E2H

The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes, or E1s, ubiquitin-conjugating enzymes, or E2s, and ubiquitin-protein ligases, or E3s. This gene encodes a member of the E2 ubiquitin-conjugating enzyme family. The encoded protein sequence is 100% identical to the mouse homolog and 98% identical to the frog and zebrafish homologs. Three alternatively spliced transcript variants have been found for this gene and they encode distinct isoforms. [provided by RefSeq, Feb 2011]

ubiquitin-conjugating enzyme E2K

The protein encoded by this gene belongs to the ubiquitin-conjugating enzyme family. This protein interacts with RING finger proteins, and it can ubiquitinate huntingtin, the gene product for Huntington's disease. Known functions for this protein include a role in aggregate formation of expanded polyglutamine proteins and the suppression of apoptosis in polyglutamine diseases, a role in the dislocation of newly synthesized MHC class I heavy chains from the endoplasmic reticulum, and involvement in foam cell formation. Multiple transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]

ubiquitin-conjugating enzyme E2M

The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes, or E1s, ubiquitin-conjugating enzymes, or E2s, and ubiquitin-protein ligases, or E3s. This gene encodes a member of the E2 ubiquitin-conjugating enzyme family. The encoded protein is linked with a ubiquitin-like protein, NEDD8, which can be conjugated to cellular proteins, such as Cdc53/culin. [provided by RefSeq, Jul 2008]

ubiquitin-conjugating enzyme E2N

The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes, or E1s, ubiquitin-conjugating enzymes, or E2s, and ubiquitin-protein ligases, or E3s. This gene encodes a member of the E2 ubiquitin-conjugating enzyme family. Studies in mouse suggest that this protein plays a role in DNA postreplication repair. [provided by RefSeq, Jul 2008]

ubiquitin-conjugating enzyme E2A

The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes, ubiquitin-conjugating enzymes, and ubiquitin-protein ligases. This gene encodes a member of the E2 ubiquitin-conjugating enzyme family. This enzyme is required for post-replicative DNA damage repair, and may play a role in transcriptional regulation. Mutations in this gene are associated with cognitive disability. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]

ubiquitin-conjugating enzyme E2C

The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes, ubiquitin-conjugating enzymes, and ubiquitin-protein ligases. This gene encodes a member of the E2 ubiquitin-conjugating enzyme family. The encoded protein is required for the destruction of mitotic cyclins and for cell cycle progression, and may be involved in cancer progression. Multiple transcript variants encoding different isoforms have been found for this gene. Pseudogenes of this gene have been defined on chromosomes 4, 14, 15, 18, and 19. [provided by RefSeq, Aug 2013]

ubiquitin-conjugating enzyme E2F (putative)

Enables NEDD8 conjugating enzyme activity. Involved in protein neddylation. Predicted to be active in cytosol and nucleus. [provided by Alliance of Genome Resources, Mar 2025]

ubiquitin-conjugating enzyme E2Z

This gene encodes an enzyme which ubiquitinates proteins which participate in signaling pathways and apoptosis. [provided by RefSeq, Feb 2012]

ubiquitin-conjugating enzyme E2S

This gene encodes a member of the ubiquitin-conjugating enzyme family. The encoded protein is able to form a thiol ester linkage with ubiquitin in a ubiquitin activating enzyme-dependent manner, a characteristic property of ubiquitin carrier proteins. [provided by RefSeq, Jul 2008]

ubiquitin-conjugating enzyme E2U (putative)

Predicted to enable ATP binding activity and ubiquitin conjugating enzyme activity. Predicted to be involved in protein ubiquitination. [provided by Alliance of Genome Resources, Mar 2025]

ubiquitin-conjugating enzyme E2T

The protein encoded by this gene catalyzes the covalent attachment of ubiquitin to protein substrates. Defects in this gene have been associated with Fanconi anemia of complementation group T. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2015]

ubiquitin-conjugating enzyme E2W (putative)

This gene encodes a nuclear-localized ubiquitin-conjugating enzyme (E2) that, along with ubiquitin-activating (E1) and ligating (E3) enzymes, coordinates the addition of a ubiquitin moiety to existing proteins. The encoded protein promotes the ubiquitination of Fanconi anemia complementation group proteins and may be important in the repair of DNA damage. There is a pseudogene for this gene on chromosome 1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012]

ubiquitin-fold modifier conjugating enzyme 1

UFC1 is an E2-like conjugating enzyme for ubiquitin-fold modifier-1 (UFM1; MIM 610553) (Komatsu et al., 2004 [PubMed 15071506]).[supplied by OMIM, Mar 2008]

ubiquitin specific peptidase 17-like family member 19

Predicted to enable cysteine-type deubiquitinase activity. Predicted to be involved in regulation of apoptotic process and regulation of protein stability. Predicted to be located in endoplasmic reticulum. Predicted to be active in cytosol and nucleus. [provided by Alliance of Genome Resources, Mar 2025]

ubiquitin specific peptidase 9, Y-linked pseudogene 7

ubiquitin specific peptidase 9, Y-linked pseudogene 6

ubiquitin specific peptidase 9, Y-linked pseudogene 9

ubiquitin specific peptidase 9, Y-linked pseudogene 8

ubiquitin-conjugating enzyme E2 variant 2 pseudogene 3

ubiquitin-conjugating enzyme E2 variant 1

Ubiquitin-conjugating E2 enzyme variant proteins constitute a distinct subfamily within the E2 protein family. They have sequence similarity to other ubiquitin-conjugating enzymes but lack the conserved cysteine residue that is critical for the catalytic activity of E2s. The protein encoded by this gene is located in the nucleus and can cause transcriptional activation of the human FOS proto-oncogene. It is thought to be involved in the control of differentiation by altering cell cycle behavior. Alternatively spliced transcript variants encoding multiple isoforms have been described for this gene, and multiple pseudogenes of this gene have been identified. Co-transcription of this gene and the neighboring upstream gene generates a rare transcript (Kua-UEV), which encodes a fusion protein comprised of sequence sharing identity with each individual gene product. [provided by RefSeq, Apr 2012]

ubiquitin-conjugating enzyme E2 variant 2

Ubiquitin-conjugating enzyme E2 variant proteins constitute a distinct subfamily within the E2 protein family. They have sequence similarity to other ubiquitin-conjugating enzymes but lack the conserved cysteine residue that is critical for the catalytic activity of E2s. The protein encoded by this gene also shares homology with ubiquitin-conjugating enzyme E2 variant 1 and yeast MMS2 gene product. It may be involved in the differentiation of monocytes and enterocytes. [provided by RefSeq, Jul 2008]

ubiquitin-like modifier activating enzyme 5 pseudogene

ubiquitin-conjugating enzyme E2Q family member 2-like

ubiquitin-like modifier activating enzyme 2 pseudogene

ubiquitin-like modifier activating enzyme 2 pseudogene

ubiquitin specific peptidase 27, X-linked

This gene encodes a member of the peptidase protein family. The encoded protein functions as a deubiquitinase that is involved in upregulation of the pro-apoptotic Bim protein. This protein may act as a tumor suppressor by increasing levels of Bim to counteract anti-apoptotic signals in cancer cells. Mutations in this gene have been associated with X-linked cognitive disability. [provided by RefSeq, Dec 2016]

ubiquitin-conjugating enzyme E2D N-terminal like (pseudogene)

ubiquitin related modifier 1

Enables sulfur carrier activity. Involved in tRNA thio-modification and tRNA wobble uridine modification. Predicted to be located in cytosol. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Mar 2025]

ubiquitin-like, containing PHD and RING finger domains, 1 pseudogene

ubiquitin-like 5 pseudogene 2

ubiquitin-like 5 pseudogene 3

ubiquitin-like 5 pseudogene 1

ubiquitin specific peptidase 12 pseudogene

ubiquitin specific peptidase 26 pseudogene

small ubiquitin-related modifier 2-like

ubiquitin specific peptidase 17-like family member 2 pseudogene

ubiquitin specific peptidase 17-like family member 14, pseudogene

ubiquitin specific peptidase 32 pseudogene 3

ubiquitin specific peptidase 29

Predicted to enable cysteine-type deubiquitinase activity and cysteine-type endopeptidase activity. Predicted to be involved in several processes, including G1/S transition of mitotic cell cycle; positive regulation of type I interferon-mediated signaling pathway; and protein K48-linked deubiquitination. Predicted to be located in perinuclear region of cytoplasm. Predicted to be active in cytosol and nucleus. [provided by Alliance of Genome Resources, Mar 2025]

ubiquitin specific peptidase 28

The protein encoded by this gene is a deubiquitinase involved in the DNA damage pathway and DNA damage-induced apoptosis. Overexpression of this gene is seen in several cancers. [provided by RefSeq, Oct 2016]

ubiquitin specific peptidase 26

This gene encodes a member of the ubiquitin-specific processing (UBP) family of proteases and is a deubiquitinating enzyme (DUB) with His and Cys domains. It is specifically expressed in testis tissue. Mutations in this gene have been associated with Sertoli cell-only syndrome and male infertility. [provided by RefSeq, Jul 2008]

ubiquitin specific peptidase 25

Ubiquitin (MIM 191339) is a highly conserved 76-amino acid protein involved in regulation of intracellular protein breakdown, cell cycle regulation, and stress response. Ubiquitin is released from degraded proteins by disassembly of the polyubiquitin chains, which is mediated by ubiquitin-specific proteases (USPs), such as USP25 (Valero et al., 1999 [PubMed 10644437]).[supplied by OMIM, Mar 2008]

ubiquitin specific peptidase 24

Modification of cellular proteins by ubiquitin is an essential regulatory mechanism controlled by the coordinated action of multiple ubiquitin-conjugating and deubiquitinating enzymes. USP24 belongs to a large family of cysteine proteases that function as deubiquitinating enzymes (Quesada et al., 2004 [PubMed 14715245]).[supplied by OMIM, Mar 2008]

ubiquitin specific peptidase 21

This gene encodes a member of the C19 peptidase family, also known as family 2 of ubiquitin carboxy-terminal hydrolases. The encoded protein cleaves ubiquitin from ubiquitinated proteins for recycling in intracellular protein degradation. The encoded protein is also able to release NEDD8, a ubiquitin-like protein, from NEDD8-conjugated proteins. This gene has been referred to as USP16 and USP23 but is now known as USP21. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2016]

ubiquitin specific peptidase 20

This gene encodes a ubiquitin specific processing protease that was first identified as a substrate of the VHL (von Hippel-Lindau disease) protein E3 ubiquitin ligase complex. In addition to being ubiquitinated by the VHL-E3 ligase complex, this enzyme deubiquitinates hypoxia-inducible factor (HIF)-1 alpha and thereby causes increased expression of HIF-1alpha targeted genes which play a role in angiogenesis, glucose metabolism, cell proliferation and metastasis. The enzyme encoded by this gene also regulates G-protein coupled receptor signaling by mediating the deubiquitination of beta-2 adrenergic receptor (ADRB2). This enzyme is a ubiquitously expressed thiolester hydrolase. Alternative splicing results in multiple transcript variants encoding the same protein. [provided by RefSeq, Jan 2013]

ubiquitin specific peptidase 17-like family member 17

Predicted to enable cysteine-type deubiquitinase activity. Predicted to be involved in regulation of apoptotic process and regulation of protein stability. Predicted to be located in endoplasmic reticulum. Predicted to be active in cytosol and nucleus. [provided by Alliance of Genome Resources, Mar 2025]

ubiquitin specific peptidase 17-like family member 15

Predicted to enable cysteine-type deubiquitinase activity. Predicted to be involved in regulation of apoptotic process and regulation of protein stability. Predicted to be located in endoplasmic reticulum. Predicted to be active in cytosol and nucleus. [provided by Alliance of Genome Resources, Mar 2025]

ubiquitin specific peptidase 17-like family member 13

Predicted to enable cysteine-type deubiquitinase activity. Predicted to be involved in regulation of apoptotic process and regulation of protein stability. Predicted to be located in endoplasmic reticulum. Predicted to be active in cytosol and nucleus. [provided by Alliance of Genome Resources, Mar 2025]

ubiquitin specific peptidase 17-like family member 12

Predicted to enable cysteine-type deubiquitinase activity. Predicted to be involved in regulation of apoptotic process and regulation of protein stability. Predicted to be located in endoplasmic reticulum. Predicted to be active in cytosol and nucleus. [provided by Alliance of Genome Resources, Mar 2025]

ubiquitin specific peptidase 17-like family member 11

Predicted to enable cysteine-type deubiquitinase activity. Predicted to be involved in regulation of apoptotic process and regulation of protein stability. Predicted to be located in endoplasmic reticulum. Predicted to be active in cytosol and nucleus. [provided by Alliance of Genome Resources, Mar 2025]

ubiquitin specific peptidase 17-like family member 10

Predicted to enable cysteine-type deubiquitinase activity. Predicted to be involved in regulation of apoptotic process and regulation of protein stability. Predicted to be located in endoplasmic reticulum. Predicted to be active in cytosol and nucleus. [provided by Alliance of Genome Resources, Mar 2025]

ubiquitin specific peptidase 17-like family member 18

Predicted to enable cysteine-type deubiquitinase activity. Predicted to be involved in regulation of apoptotic process and regulation of protein stability. Predicted to be located in endoplasmic reticulum. Predicted to be active in cytosol and nucleus. [provided by Alliance of Genome Resources, Mar 2025]

ubiquitin family domain containing 1 pseudogene

ubiquitin-conjugating enzyme E2 D4 pseudogene

ubiquitin-conjugating enzyme E2 variant 2 pseudogene 1

ubiquitin specific peptidase 17-like family member 9, pseudogene

ubiquitin-conjugating enzyme E2H pseudogene 1

ISG15 ubiquitin-like modifier

The protein encoded by this gene is a ubiquitin-like protein that is conjugated to intracellular target proteins upon activation by interferon-alpha and interferon-beta. Several functions have been ascribed to the encoded protein, including chemotactic activity towards neutrophils, direction of ligated target proteins to intermediate filaments, cell-to-cell signaling, and antiviral activity during viral infections. While conjugates of this protein have been found to be noncovalently attached to intermediate filaments, this protein is sometimes secreted. [provided by RefSeq, Dec 2012]

ubiquitin specific peptidase 12 pseudogene 1

ubiquitin-conjugating enzyme E2Q family member 2 pseudogene 7

ubiquitin-conjugating enzyme E2Q family member 2 pseudogene 6

ubiquitin-conjugating enzyme E2Q family member 2 pseudogene 1

ubiquitin-conjugating enzyme E2Q family member 2 pseudogene 2

ubiquitin-conjugating enzyme E2Q family member 2 pseudogene 8

small ubiquitin-like modifier 1

This gene encodes a protein that is a member of the SUMO (small ubiquitin-like modifier) protein family. It functions in a manner similar to ubiquitin in that it is bound to target proteins as part of a post-translational modification system. However, unlike ubiquitin which targets proteins for degradation, this protein is involved in a variety of cellular processes, such as nuclear transport, transcriptional regulation, apoptosis, and protein stability. It is not active until the last four amino acids of the carboxy-terminus have been cleaved off. Several pseudogenes have been reported for this gene. Alternate transcriptional splice variants encoding different isoforms have been characterized. [provided by RefSeq, Jul 2008]

small ubiquitin-like modifier 2

This gene encodes a protein that is a member of the SUMO (small ubiquitin-like modifier) protein family. It functions in a manner similar to ubiquitin in that it is bound to target proteins as part of a post-translational modification system. However, unlike ubiquitin which targets proteins for degradation, this protein is involved in a variety of cellular processes, such as nuclear transport, transcriptional regulation, apoptosis, and protein stability. It is not active until the last two amino acids of the carboxy-terminus have been cleaved off. Numerous pseudogenes have been reported for this gene. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]

small ubiquitin-like modifier 4

This gene is a member of the SUMO gene family. This family of genes encode small ubiquitin-related modifiers that are attached to proteins and control the target proteins' subcellular localization, stability, or activity. The protein described in this record is located in the cytoplasm and specifically modifies IKBA, leading to negative regulation of NF-kappa-B-dependent transcription of the IL12B gene. A specific polymorphism in this SUMO gene, which leads to the M55V substitution, has been associated with type I diabetes. The RefSeq contains this polymorphism. [provided by RefSeq, Jul 2008]

ubiquitin-like domain containing CTD phosphatase 1

Enables proteasome regulatory particle binding activity and protein serine/threonine phosphatase activity. Involved in negative regulation of ATP-dependent activity and regulation of proteasome assembly. Located in nucleolus and nucleoplasm. [provided by Alliance of Genome Resources, Mar 2025]

ubiquitin-like 4B

Involved in positive regulation of protein targeting to mitochondrion. Predicted to be located in cytoplasm. [provided by Alliance of Genome Resources, Mar 2025]

ubiquitin interaction motif containing 1

This gene encodes a nuclear protein that interacts with Brca1 (breast cancer 1) in a complex to recognize and repair DNA lesions. This protein binds ubiquitinated lysine 63 of histone H2A and H2AX. This protein may also function as a repressor of transcription. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]

ubiquitin specific peptidase 17-like family member 6, pseudogene

Enables cysteine-type deubiquitinase activity. Involved in protein deubiquitination involved in ubiquitin-dependent protein catabolic process. Located in cytoplasm and nucleus. [provided by Alliance of Genome Resources, Mar 2025]

ubiquitin-fold modifier 1 pseudogene

ubiquitin-conjugating enzyme E2 variant 1 pseudogene

negative regulator of ubiquitin-like proteins 1

This gene encodes a protein that functions as a negative regulator of NEDD8, a ubiquitin-like protein that conjugates with cullin family members in order to regulate vital biological events. The protein encoded by this gene regulates the NEDD8 conjugation system post-transcriptionally by recruiting NEDD8 and its conjugates to the proteasome for degradation. This protein interacts with the product of the AIPL1 gene, which is associated with Leber congenital amaurosis, an inherited retinopathy, and mutations in that gene can abolish interaction with this protein, which may contribute to the pathogenesis. This protein is also known to accumulate in Lewy bodies in Parkinson's disease and dementia with Lewy bodies, and in glial cytoplasmic inclusions in multiple system atrophy, with this abnormal accumulation being specific to alpha-synucleinopathy lesions. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Aug 2011]

ubiquitin specific peptidase 24 pseudogene 1

ubiquitin-conjugating enzyme E2 variant 1-like

ubiquitin specific peptidase 12 pseudogene

ubiquitin B pseudogene 1

ubiquitin B pseudogene 2

ubiquitin B pseudogene 3

ubiquitin B pseudogene 4

ubiquitin B pseudogene 5

ubiquitin-conjugating enzyme E2E 1

The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes, or E1s, ubiquitin-conjugating enzymes, or E2s, and ubiquitin-protein ligases, or E3s. This gene encodes a member of the E2 ubiquitin-conjugating enzyme family. Three alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jan 2011]

ubiquitin-conjugating enzyme E2E 3

The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes, or E1s, ubiquitin-conjugating enzymes, or E2s, and ubiquitin-protein ligases, or E3s. This gene encodes a member of the E2 ubiquitin-conjugating enzyme family. The encoded protein shares 100% sequence identity with the mouse and rat counterparts, which indicates that this enzyme is highly conserved in eukaryotes. Multiple alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jun 2013]

ubiquitin-conjugating enzyme E2E 2

Enables ISG15 transferase activity and ubiquitin conjugating enzyme activity. Involved in protein modification by small protein conjugation. Acts upstream of or within DNA damage response and positive regulation of G1/S transition of mitotic cell cycle. Predicted to be active in nucleus. Implicated in type 2 diabetes mellitus. [provided by Alliance of Genome Resources, Mar 2025]

ubiquitin domain containing 2 pseudogene

ubiquitin specific peptidase 9, Y-linked pseudogene 19

ubiquitin-like with PHD and ring finger domains 2 pseudogene 1

ubiquitin-conjugating enzyme E2Q family-like 1

Enables ubiquitin conjugating enzyme activity. Predicted to be involved in protein polyubiquitination. Located in nucleoplasm and plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

ubiquitin-fold modifier 1 pseudogene

small ubiquitin-like modifier 2

ubiquitin-conjugating enzyme E2S pseudogene 1

ubiquitin-conjugating enzyme E2S pseudogene 2

ubiquitin specific peptidase 49

Enables histone binding activity and peptidase activity. Involved in mRNA splicing, via spliceosome; negative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction; and protein deubiquitination. Predicted to be located in nucleoplasm. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Mar 2025]

ubiquitin specific peptidase 48

This gene encodes a protein containing domains that associate it with the peptidase family C19, also known as family 2 of ubiquitin carboxyl-terminal hydrolases. Family members function as deubiquitinating enzymes, recognizing and hydrolyzing the peptide bond at the C-terminal glycine of ubiquitin. Enzymes in peptidase family C19 are involved in the processing of poly-ubiquitin precursors as well as that of ubiquitinated proteins. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]

ubiquitin specific peptidase 45

The protein encoded by this gene is a deubiquitylase that binds ERCC1, the catalytic subunit of the XPF-ERCC1 DNA repair endonuclease. This endonuclease is a critical regulator of DNA repair processes, and the deubiquitylase activity of the encoded protein is important for maintaining the DNA repair ability of XPF-ERCC1. [provided by RefSeq, Sep 2016]

ubiquitin specific peptidase 44

The protein encoded by this gene is a protease that functions as a deubiquitinating enzyme. The encoded protein is thought to help regulate the spindle assembly checkpoint by preventing early anaphase onset. This protein specifically deubiquitinates CDC20, which stabilizes the anaphase promoting complex/cyclosome. [provided by RefSeq, Dec 2016]

ubiquitin specific peptidase 47

Enables WD40-repeat domain binding activity and cysteine-type deubiquitinase activity. Involved in several processes, including monoubiquitinated protein deubiquitination; negative regulation of macromolecule metabolic process; and positive regulation of canonical Wnt signaling pathway. Located in cytoplasm. Part of SCF ubiquitin ligase complex. Is active in nucleus. [provided by Alliance of Genome Resources, Mar 2025]

ubiquitin specific peptidase 46

Modification of cellular proteins by ubiquitin is an essential regulatory mechanism controlled by the coordinated action of multiple ubiquitin-conjugating and deubiquitinating enzymes. USP46 belongs to a large family of cysteine proteases that function as deubiquitinating enzymes (Quesada et al., 2004 [PubMed 14715245]).[supplied by OMIM, Jun 2009]

ubiquitin specific peptidase 41

ubiquitin specific peptidase 40

Modification of cellular proteins by ubiquitin is an essential regulatory mechanism controlled by the coordinated action of multiple ubiquitin-conjugating and deubiquitinating enzymes. USP40 belongs to a large family of cysteine proteases that function as deubiquitinating enzymes (Quesada et al., 2004 [PubMed 14715245]).[supplied by OMIM, Mar 2008]

ubiquitin specific peptidase 43

Predicted to enable ISG15-specific peptidase activity. Predicted to be involved in translesion synthesis. Predicted to be located in nucleoplasm. [provided by Alliance of Genome Resources, Mar 2025]

ubiquitin specific peptidase 42

Enables cysteine-type deubiquitinase activity. Predicted to be involved in protein deubiquitination; regulation of apoptotic process; and regulation of protein stability. Predicted to be located in nucleoplasm. Predicted to be active in cytosol and nucleus. [provided by Alliance of Genome Resources, Mar 2025]

ubiquitin-conjugating enzyme E2 variant 2 pseudogene 2

ubiquitin specific peptidase 12 pseudogene

ubiquitin specific peptidase 12 pseudogene

ubiquitin specific peptidase 12 pseudogene, X-linked

ubiquitin specific peptidase 12 pseudogene, Y-linked

IQ motif and ubiquitin domain containing

Involved in flagellated sperm motility and mating. Predicted to be located in sperm flagellum. Predicted to be part of radial spoke. Predicted to be active in acrosomal vesicle and motile cilium. [provided by Alliance of Genome Resources, Mar 2025]

small ubiquitin-like modifier 3

This gene encodes a member of the small ubiquitin-related modifier (SUMO) family of eukaryotic proteins. The encoded protein is covalently conjugated to other proteins via a post-translation modification known as sumoylation. Sumoylation may play a role in a wide variety of cellular processes, including nuclear transport, DNA replication and repair, mitosis, transcriptional regulation, and signal transduction. Alternatively spliced transcript variants encoding distinct proteins have been described. [provided by RefSeq, Feb 2014]

ubiquitin specific peptidase 8

This gene encodes a protein that belongs to the ubiquitin-specific processing protease family of proteins. The encoded protein is thought to regulate the morphology of the endosome by ubiquitination of proteins on this organelle and is involved in cargo sorting and membrane trafficking at the early endosome stage. This protein is required for the cell to enter the S phase of the cell cycle and also functions as a positive regulator in the Hedgehog signaling pathway in development. Pseudogenes of this gene are present on chromosomes 2 and 6. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]

ubiquitin specific peptidase 1

This gene encodes a member of the ubiquitin-specific processing (UBP) family of proteases that is a deubiquitinating enzyme (DUB) with His and Cys domains. This protein is located in the cytoplasm and cleaves the ubiquitin moiety from ubiquitin-fused precursors and ubiquitinylated proteins. The protein specifically deubiquitinates a protein in the Fanconi anemia (FA) DNA repair pathway. Alternate transcriptional splice variants have been characterized. [provided by RefSeq, Jul 2008]

ubiquitin specific peptidase 2

This gene encodes a member of the family of de-ubiquitinating enzymes, which belongs to the peptidase C19 superfamily. The encoded protein is a ubiquitin-specific protease which is required for TNF-alpha (tumor necrosis factor alpha) -induced NF-kB (nuclear factor kB) signaling. This protein deubiquitinates polyubiquitinated target proteins such as fatty acid synthase, murine double minute 2 (MDM2), MDM4/MDMX and cyclin D1. MDM2 and MDM4 are negative regulators of the p53 tumor suppressor and cyclin D1 is required for cell cycle G1/S transition. Multiple alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Aug 2011]

ubiquitin specific peptidase 3

Enables deubiquitinase activity and histone binding activity. Involved in DNA repair and DNA repair-dependent chromatin remodeling. Located in several cellular components, including Flemming body; cytoplasmic ribonucleoprotein granule; and nucleoplasm. [provided by Alliance of Genome Resources, Mar 2025]

ubiquitin specific peptidase 4 (proto-oncogene)

The protein encoded by this gene is a protease that deubiquitinates target proteins such as ADORA2A and TRIM21. The encoded protein shuttles between the nucleus and cytoplasm and is involved in maintaining operational fidelity in the endoplasmic reticulum. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]

ubiquitin specific peptidase 5 (isopeptidase T)

Ubiquitin (see MIM 191339)-dependent proteolysis is a complex pathway of protein metabolism implicated in such diverse cellular functions as maintenance of chromatin structure, receptor function, and degradation of abnormal proteins. A late step of the process involves disassembly of the polyubiquitin chains on degraded proteins into ubiquitin monomers. USP5 disassembles branched polyubiquitin chains by a sequential exo mechanism, starting at the proximal end of the chain (Wilkinson et al., 1995 [PubMed 7578059]).[supplied by OMIM, Mar 2010]

ubiquitin specific peptidase 6

Enables cysteine-type deubiquitinase activity. Involved in protein deubiquitination and regulation of postsynaptic neurotransmitter receptor internalization. Located in plasma membrane and recycling endosome. Is active in glutamatergic synapse and postsynaptic density, intracellular component. [provided by Alliance of Genome Resources, Mar 2025]

ubiquitin specific peptidase 7 (herpes virus-associated)

The protein encoded by this gene belongs to the peptidase C19 family, which includes ubiquitinyl hydrolases. This protein deubiquitinates target proteins such as p53 (a tumor suppressor protein) and WASH (essential for endosomal protein recycling), and regulates their activities by counteracting the opposing ubiquitin ligase activity of proteins such as HDM2 and TRIM27, involved in the respective process. Mutations in this gene have been implicated in a neurodevelopmental disorder. [provided by RefSeq, Mar 2016]

ubiquitin recognition factor in ER associated degradation 1

The protein encoded by this gene forms a complex with two other proteins, nuclear protein localization-4 and valosin-containing protein, and this complex is necessary for the degradation of ubiquitinated proteins. In addition, this complex controls the disassembly of the mitotic spindle and the formation of a closed nuclear envelope after mitosis. Mutations in this gene have been associated with Catch 22 syndrome as well as cardiac and craniofacial defects. Alternative splicing results in multiple transcript variants encoding different isoforms. A related pseudogene has been identified on chromosome 18. [provided by RefSeq, Jun 2009]

zinc finger containing ubiquitin peptidase 1

This gene encodes a protein containing zinc finger motifs and a cysteine peptidase domain. The encoded protein functions as a K63-specific de-ubiquitinating enzyme that specifically cleaves long K63-linked polyubiquitin chains in the middle of a chain (i.e. `endo cleavage) rather than by removing the terminal ubiquitin from a chain. This enzyme is thought to be involved in the regulation of DNA repair by cleaving K63-linked ubiquitin chains at repair foci. This protein is related to proteases for the ubiquitin-like modifiers Ufm1 (ubiquitin fold modifier 1) and Atg8/Gabarapl2, but does not have any activity on these modifiers. [provided by RefSeq, Mar 2018]

ubiquitin conjugating enzyme E2 L5

Predicted to enable ubiquitin conjugating enzyme activity. Predicted to be involved in protein K11-linked ubiquitination and ubiquitin-dependent protein catabolic process. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Mar 2025]