Harmonizome 3.0

electron-transfer-flavoprotein, alpha polypeptide

ETFA participates in catalyzing the initial step of the mitochondrial fatty acid beta-oxidation. It shuttles electrons between primary flavoprotein dehydrogenases and the membrane-bound electron transfer flavoprotein ubiquinone oxidoreductase. Defects in electron-transfer-flavoprotein have been implicated in type II glutaricaciduria in which multiple acyl-CoA dehydrogenase deficiencies result in large excretion of glutaric, lactic, ethylmalonic, butyric, isobutyric, 2-methyl-butyric, and isovaleric acids. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

electron-transfer-flavoprotein, beta polypeptide

This gene encodes electron-transfer-flavoprotein, beta polypeptide, which shuttles electrons between primary flavoprotein dehydrogenases involved in mitochondrial fatty acid and amino acid catabolism and the membrane-bound electron transfer flavoprotein ubiquinone oxidoreductase. The gene deficiencies have been implicated in type II glutaricaciduria. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2008]

electron transfer flavoprotein regulatory factor 1

Involved in respiratory electron transport chain. Located in mitochondrion. [provided by Alliance of Genome Resources, Mar 2025]

electron transfer flavoprotein subunit beta lysine methyltransferase

Enables heat shock protein binding activity and protein-lysine N-methyltransferase activity. Involved in negative regulation of fatty acid beta-oxidation using acyl-CoA dehydrogenase. Located in mitochondrial matrix. Part of protein-containing complex. [provided by Alliance of Genome Resources, Mar 2025]

electron-transferring-flavoprotein dehydrogenase

This gene encodes a component of the electron-transfer system in mitochondria and is essential for electron transfer from a number of mitochondrial flavin-containing dehydrogenases to the main respiratory chain. Mutations in this gene are associated with glutaric acidemia. Alternatively spliced transcript variants that encode distinct isoforms have been observed. [provided by RefSeq, Aug 2013]

succinate dehydrogenase complex, subunit A, flavoprotein (Fp)

This gene encodes a major catalytic subunit of succinate-ubiquinone oxidoreductase, a complex of the mitochondrial respiratory chain. The complex is composed of four nuclear-encoded subunits and is localized in the mitochondrial inner membrane. Mutations in this gene have been associated with a form of mitochondrial respiratory chain deficiency known as Leigh Syndrome. A pseudogene has been identified on chromosome 3q29. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2014]

succinate dehydrogenase complex, subunit A, flavoprotein (Fp) pseudogene

succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 2

succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 3

succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 1

WW domain containing oxidoreductase

This gene encodes a member of the short-chain dehydrogenases/reductases (SDR) protein family. This gene spans the FRA16D common chromosomal fragile site and appears to function as a tumor suppressor gene. Expression of the encoded protein is able to induce apoptosis, while defects in this gene are associated with multiple types of cancer. Disruption of this gene is also associated with autosomal recessive spinocerebellar ataxia 12. Disruption of a similar gene in mouse results in impaired steroidogenesis, additionally suggesting a metabolic function for the protein. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014]

FAD-dependent oxidoreductase domain containing 2

Enables flavin adenine dinucleotide binding activity. Involved in ERAD pathway. Located in endoplasmic reticulum lumen. [provided by Alliance of Genome Resources, Mar 2025]

FAD-dependent oxidoreductase domain containing 1

This gene encodes a protein that contains a FAD-dependent oxidoreductase domain. The encoded protein is localized to the mitochondria and may function as a chaperone protein required for the function of mitochondrial complex I. Mutations in this gene are associated with mitochondrial complex I deficiency. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Dec 2010]

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

NADPH dependent diflavin oxidoreductase 1

This gene encodes an NADPH-dependent diflavin reductase that contains both flavin mononucleotide (FMN) and flavin adenine dinucleotide (FAD) binding domains. The encoded protein catalyzes the transfer of electrons from NADPH through FAD and FMN cofactors to potential redox partners. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2012]

oxidoreductase NAD-binding domain containing 1

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

NADP-dependent oxidoreductase domain containing 1

Predicted to enable pyrroline-5-carboxylate reductase activity. Predicted to be involved in L-proline biosynthetic process. [provided by Alliance of Genome Resources, Mar 2025]

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

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

glucose-fructose oxidoreductase domain containing 2

Predicted to enable nucleotide binding activity and oxidoreductase activity. Predicted to be involved in extracellular matrix organization. Predicted to be located in extracellular region. Predicted to be active in extracellular matrix. [provided by Alliance of Genome Resources, Mar 2025]

glucose-fructose oxidoreductase domain containing 1

Predicted to enable nucleotide binding activity and oxidoreductase activity. Predicted to be located in extracellular region. [provided by Alliance of Genome Resources, Mar 2025]

laccase (multicopper oxidoreductase) domain containing 1

This gene encodes an oxidoreductase that promotes fatty-acid oxidation, with concomitant inflammasome activation, mitochondrial and NADPH-oxidase-dependent reactive oxygen species production, and bactericidal activity of macrophages. The encoded protein forms a complex with fatty acid synthase on peroxisomes and is thought to be modulated by peroxisome proliferator-activated receptor signaling events. Naturally occurring mutations in this gene are associated with inflammatory bowel disease, Behcet's disease, leprosy, ulcerative colitis, early-onset Crohn's disease, and systemic juvenile idiopathic arthritis. [provided by RefSeq, Apr 2017]

quinone oxidoreductase-like protein 2 pseudogene

glucose-fructose oxidoreductase domain containing 2 pseudogene

P450 (cytochrome) oxidoreductase

This gene encodes an endoplasmic reticulum membrane oxidoreductase that is essential for multiple metabolic processes, including reactions catalyzed by cytochrome P450 proteins for metabolism of steroid hormones, drugs and xenobiotics. The encoded protein has a flavin adenine dinucleotide (FAD)-binding domain and a flavodoxin-like domain which bind two cofactors, FAD and FMN, that allow it to donate electrons directly from NADPH to all microsomal P450 enzymes. Mutations in this gene cause a complex set of disorders, including apparent combined P450C17 and P450C21 deficiency, amenorrhea and disordered steroidogenesis, congenital adrenal hyperplasia and Antley-Bixler syndrome, that resemble those caused by defects in steroid metabolizing enzymes such as aromatase, 21-hydroxylase, and 17 alpha-hydroxylase. [provided by RefSeq, Aug 2020]

oxidoreductase-like domain containing 1

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

pyridine nucleotide-disulphide oxidoreductase domain 2

Predicted to enable oxidoreductase activity. Involved in mitochondrion organization. Located in mitochondrial matrix. [provided by Alliance of Genome Resources, Mar 2025]

pyridine nucleotide-disulphide oxidoreductase domain 1

This gene encodes a nuclear-cytoplasmic pyridine nucleotide-disulphide reductase (PNDR). PNDRs are flavoproteins that catalyze the pyridine nucleotide-dependent reduction of thiol residues in other proteins. The encoded protein belongs to the class I pyridine nucleotide-disulphide oxidoreductase family but lacks the C-terminal dimerization domain found in other family members and instead has a C-terminal nitrile reductase domain. It localizes to the nucleus and to striated sarcomeric compartments. Naturally occurring mutations in this gene cause early-onset myopathy with internalized nuclei and myofibrillar disorganization. A pseudogene of this gene has been defined on chromosome 11. [provided by RefSeq, Apr 2017]

pyridine nucleotide-disulphide oxidoreductase domain 1 pseudogene

quinone oxidoreductase-like protein 2 pseudogene

endoplasmic reticulum oxidoreductase 1 beta

Enables protein-disulfide reductase activity and thiol oxidase activity. Involved in protein folding in endoplasmic reticulum. Predicted to be located in endoplasmic reticulum. Predicted to be active in endoplasmic reticulum lumen and endoplasmic reticulum membrane. [provided by Alliance of Genome Resources, Mar 2025]

sulfide quinone oxidoreductase

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

endoplasmic reticulum oxidoreductase 1 alpha

Enables oxidoreductase activity. Involved in cell redox homeostasis and chaperone cofactor-dependent protein refolding. Located in Golgi lumen; endoplasmic reticulum; and extracellular space. [provided by Alliance of Genome Resources, Mar 2025]

transfer RNA lysine (anticodon CUU)

This record serves to anchor the annotations of this class of tRNAs at multiple locations on the human genome. The placements are predicted using tRNAscan-SE (Lowe, T.M. and Eddy, S.R. 1997. Nucleic Acids Res. 25:955-964, PubMed 9023104).

transfer RNA alanine (anticodon AGC)

This record serves to anchor the annotations of this class of tRNAs at multiple locations on the human genome. The placements are predicted using tRNAscan-SE (Lowe, T.M. and Eddy, S.R. 1997. Nucleic Acids Res. 25:955-964, PubMed 9023104).

transfer RNA-Leu (AAG) 4-1

transfer RNA-Arg (CCT) 5-1

transfer RNA-Gly (CCC) 1-1

transfer RNA-Trp (CCA) 5-1

transfer RNA-Gly (CCC) 2-2

transfer RNA-Pro (AGG) 1-1

transfer RNA-Ala (AGC) 9-1

transfer RNA-Ala (AGC) 9-2

transfer RNA-Lys (TTT) 17-1

nuclear-encoded mitochondrial transfer RNA-Ser (TGA) 3-1

transfer RNA-Gly (CCC) 5-1

transfer RNA-Trp (CCA) 4-1

transfer RNA-Lys (TTT) 6-1

phospholipid transfer protein

The protein encoded by this gene is one of at least two lipid transfer proteins found in human plasma. The encoded protein transfers phospholipids from triglyceride-rich lipoproteins to high density lipoprotein (HDL). In addition to regulating the size of HDL particles, this protein may be involved in cholesterol metabolism. At least two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

transfer RNA-Cys (GCA) 2-4

transfer RNA-Ser (TGA) 3-1

transfer RNA-Cys (GCA) 2-1

transfer RNA-Cys (GCA) 2-2

transfer RNA-Cys (GCA) 2-3

transfer RNA-Asp (GTC) 6-1

transfer RNA-Gly (TCC) 2-6

transfer RNA-Gly (TCC) 2-5

transfer RNA-Gly (TCC) 2-3

transfer RNA-Gly (TCC) 2-2

transfer RNA-Gly (TCC) 2-1

phosphatidylinositol transfer protein, cytoplasmic 1

This gene encodes a member of the phosphatidylinositol transfer protein family. The encoded cytoplasmic protein plays a role in multiple processes including cell signaling and lipid metabolism by facilitating the transfer of phosphatidylinositol between membrane compartments. 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 1. [provided by RefSeq, May 2012]

transfer RNA arginine (anticodon ACG)

This record serves to anchor the annotations of this class of tRNAs at multiple locations on the human genome. The placements are predicted using tRNAscan-SE (Lowe, T.M. and Eddy, S.R. 1997. Nucleic Acids Res. 25:955-964, PubMed 9023104).

transfer RNA-Cys (GCA) 9-4

transfer RNA-Asn (GTT) 8-1

transfer RNA-Leu (TAG) 1-1

transfer RNA-Asn (GTT) 17-1

nuclear-encoded mitochondrial transfer RNA-Leu (TAA) 1-1

transfer RNA-Gln (CTG) 8-2

transfer RNA-Thr (CGT) 2-1

transfer RNA-Lys (TTT) 2-1

transfer RNA-undetermined (NNN) 6-1

transfer RNA-Gln (CTG) 18-1

transfer RNA-Gly (TCC) 6-1

transfer RNA-Cys (GCA) 11-1

transfer RNA-Leu (AAG) 5-1

transfer RNA-Ala (TGC) 1-1

transfer RNA-Gln (CTG) 1-5

transfer RNA-Val (CAC) 4-1

transfer RNA-Ala (AGC) 8-1

transfer RNA-Ala (AGC) 8-2

transfer RNA-Phe (GAA) 5-1

transfer RNA-Gly (CCC) 1-2

transfer RNA-Ser (TGA) 2-1

Hong et al. (1987) [PubMed 3648680] sequenced a human serine (UGA) tRNA by the dideoxysequencing method. The gene forms a typical cloverleaf structure with all appropriate conserved bases. It shows high nucleotide sequence homology with a previously sequenced serine tRNA (Yoo, 1984).[supplied by OMIM, Sep 2009]

transfer RNA-Asn (GTT) 14-1

transfer RNA-Ala (AGC) 21-1

transfer RNA-Lys (TTT) 7-1

transfer RNA-Arg (CCG) 1-1

transfer RNA-Ala (TGC) 10-1

transfer RNA histidine(anticodon GUG)

This record serves to anchor the annotations of this class of tRNAs at multiple locations on the human genome. The placements are predicted using tRNAscan-SE (Lowe, T.M. and Eddy, S.R. 1997. Nucleic Acids Res. 25:955-964, PubMed 9023104).

transfer RNA suppressor (TTA) 1-1

transfer RNA-Leu (CAG) 1-6

transfer RNA-Leu (CAG) 1-7

transfer RNA-Leu (CAG) 1-4

transfer RNA-Leu (CAG) 1-5

transfer RNA-Leu (CAG) 1-2

transfer RNA-Leu (CAG) 1-3

transfer RNA-Leu (CAG) 1-1

transfer RNA tyrosine (anticodon GUA)

This record serves to anchor the annotations of this class of tRNAs at multiple locations on the human genome. The placements are predicted using tRNAscan-SE (Lowe, T.M. and Eddy, S.R. 1997. Nucleic Acids Res. 25:955-964, PubMed 9023104).

transfer RNA-Ala (AGC) 10-1

transfer RNA-Thr (AGT) 4-1

transfer RNA-Arg (TCT) 1-1

transfer RNA-Asn (GTT) 9-2

transfer RNA-Ser (TGA) 1-1

transfer RNA-Gln (CTG) 9-1

transfer RNA-Arg (TCT) 4-1

transfer RNA-Lys (TTT) 3-1

transfer RNA-Lys (TTT) 3-2

transfer RNA-Lys (TTT) 3-3

transfer RNA-Lys (TTT) 3-4

transfer RNA-Gln (CTG) 15-1

transfer RNA-Met (CAT) 2-1

transfer RNA-Tyr (GTA) 10-1

transfer RNA leucine (anticodon UAG)

This record serves to anchor the annotations of this class of tRNAs at multiple locations on the human genome. The placements are predicted using tRNAscan-SE (Lowe, T.M. and Eddy, S.R. 1997. Nucleic Acids Res. 25:955-964, PubMed 9023104).

transfer RNA-Arg (TCG) 1-1

transfer RNA-Ala (AGC) 1-1

transfer RNA-Arg (TCT) 5-1

nuclear-encoded mitochondrial transfer RNA-Gln (TTG) 8-1

transfer RNA-Arg (CCT) 1-1

transfer RNA-Gln (CTG) 14-1

transfer RNA-Met (CAT) 3-2

transfer RNA-Met (CAT) 3-1

transfer RNA-Met (CAT) 6-1

transfer RNA-Val (CAC) 5-1

transfer RNA-His (GTG) 1-7

transfer RNA-His (GTG) 1-6

transfer RNA-His (GTG) 1-5

transfer RNA-His (GTG) 1-4

transfer RNA-His (GTG) 1-1

transfer RNA-Ser (CGA) 3-1

transfer RNA-Glu (CTC) 8-1

transfer RNA arginine (anticodon UCU)

This record serves to anchor the annotations of this class of tRNAs at multiple locations on the human genome. The placements are predicted using tRNAscan-SE (Lowe, T.M. and Eddy, S.R. 1997. Nucleic Acids Res. 25:955-964, PubMed 9023104).

transfer RNA-Phe (GAA) 12-1

transfer RNA arginine (anticodon UCG)

This record serves to anchor the annotations of this class of tRNAs at multiple locations on the human genome. The placements are predicted using tRNAscan-SE (Lowe, T.M. and Eddy, S.R. 1997. Nucleic Acids Res. 25:955-964, PubMed 9023104).

transfer RNA-Phe (GAA) 8-1

transfer RNA-Ile (TAT) 1-1

transfer RNA-Ile (AAT) 4-1

transfer RNA-Glu (TTC) 3-1

transfer RNA-Leu (TAA) 1-1

transfer RNA-Arg (ACG) 1-1

transfer RNA-Arg (ACG) 1-2

glycolipid transfer protein

The protein encoded by this gene is similar to bovine and porcine proteins which accelerate transfer of certain glycosphingolipids and glyceroglycolipids between membranes. It is thought to be a cytoplasmic protein. [provided by RefSeq, Jul 2008]

transfer RNA-Lys (CTT) 13-1

transfer RNA-Val (CAC) 1-1

transfer RNA-Val (CAC) 1-2

transfer RNA-Val (CAC) 1-3

transfer RNA-Val (CAC) 1-5

transfer RNA-Val (CAC) 1-6

transfer RNA-Ser (AGA) 7-1

transfer RNA-Glu (TTC) 2-1

nuclear-encoded mitochondrial transfer RNA-Gln (TTG) 2-1

transfer RNA-Ile (AAT) 5-2

transfer RNA-Ile (AAT) 5-3

transfer RNA-Ile (AAT) 5-1

transfer RNA-Ile (AAT) 5-4

transfer RNA-Ile (AAT) 5-5

transfer RNA alanine (anticodon CGC)

This record serves to anchor the annotations of this class of tRNAs at multiple locations on the human genome. The placements are predicted using tRNAscan-SE (Lowe, T.M. and Eddy, S.R. 1997. Nucleic Acids Res. 25:955-964, PubMed 9023104).

transfer RNA arginine (anticodon CCU)

This record serves to anchor the annotations of this class of tRNAs at multiple locations on the human genome. The placements are predicted using tRNAscan-SE (Lowe, T.M. and Eddy, S.R. 1997. Nucleic Acids Res. 25:955-964, PubMed 9023104).

transfer RNA arginine (anticodon CCG)

This record serves to anchor the annotations of this class of tRNAs at multiple locations on the human genome. The placements are predicted using tRNAscan-SE (Lowe, T.M. and Eddy, S.R. 1997. Nucleic Acids Res. 25:955-964, PubMed 9023104).

transfer RNA-Leu (CAA) 6-1

transfer RNA-Ala (CGC) 3-1

transfer RNA-Tyr (GTA) 1-1

transfer RNA-Glu (CTC) 18-1

transfer RNA-Glu (TTC) 16-1

transfer RNA-Leu (TAA) 4-1

transfer RNA-Pro (AGG) 6-1

transfer RNA-Leu (CAA) 7-1

transfer RNA-Ser (CGA) 2-1

transfer RNA glutamic acid (anticodon UUC)

This record serves to anchor the annotations of this class of tRNAs at multiple locations on the human genome. The placements are predicted using tRNAscan-SE (Lowe, T.M. and Eddy, S.R. 1997. Nucleic Acids Res. 25:955-964, PubMed 9023104).

transfer RNA-Glu (CTC) 9-1

transfer RNA-Cys (GCA) 9-3

transfer RNA-Cys (GCA) 9-2

transfer RNA-Cys (GCA) 9-1

transfer RNA-Glu (TTC) 12-1

transfer RNA-Cys (GCA) 15-1

transfer RNA-Cys (GCA) 10-1

nuclear-encoded mitochondrial transfer RNA-Gln (TTG) 3-1

transfer RNA-Asn (GTT) 11-2

transfer RNA-Asn (GTT) 11-1

transfer RNA-Cys (GCA) 8-1

transfer RNA-Glu (TTC) 13-1

transfer RNA-Asn (GTT) 10-1

transfer RNA-Glu (CTC) 15-1

transfer RNA-Thr (AGT) 1-3

transfer RNA-Thr (AGT) 1-2

transfer RNA-Thr (AGT) 1-1

transfer RNA-Ala (CGC) 2-1

transfer RNA-Thr (CGT) 3-1

transfer RNA-Ser (TGA) 4-1

Hong et al. (1992) [PubMed 1549482] sequenced a human serine tRNA by the dideoxysequencing method. Sequence analysis revealed that the gene forms a typical cloverleaf structure with all appropriate conserved bases, and that the anticodon sequence is 5-prime-UGA-3-prime. The gene has no introns and its nucleotide sequence is highly homologous to those of previously characterized serine tRNAs.[supplied by OMIM, Sep 2009]

transfer RNA-undetermined (NNN) 7-1

transfer RNA-Cys (GCA) 21-1

nuclear-encoded mitochondrial transfer RNA-Gln (TTG) 12-1

transfer RNA suppressor (TTA) 2-1

transfer RNA-Glu (CTC) 14-1

transfer RNA-Tyr (ATA) 1-1

transfer RNA-Lys (CTT) 5-1

transfer RNA-Cys (GCA) 20-1

transfer RNA-Gly (GCC) 6-1

transfer RNA-Gln (TTG) 8-1

transfer RNA-Ala (AGC) 2-2

transfer RNA-Asp (GTC) 2-10

transfer RNA-Asp (GTC) 2-11

transfer RNA-Ala (AGC) 11-1

transfer RNA-Lys (CTT) 4-1

transfer RNA tyrosine (anticodon AUA)

This record serves to anchor the annotations of this class of tRNAs at multiple locations on the human genome. The placements are predicted using tRNAscan-SE (Lowe, T.M. and Eddy, S.R. 1997. Nucleic Acids Res. 25:955-964, PubMed 9023104).

nuclear-encoded mitochondrial transfer RNA-Ser (TGA) 2-1

transfer RNA-Lys (TTT) 8-1

transfer RNA-Val (AAC) 6-1

transfer RNA-Ser (AGA) 2-6

transfer RNA-Ile (AAT) 8-1

transfer RNA-Leu (TAG) 4-1

transfer RNA-Asn (GTT) 6-1

transfer RNA-Val (AAC) 1-2

transfer RNA-Val (AAC) 1-3

transfer RNA-Thr (TGT) 3-1

transfer RNA-Val (AAC) 2-1

phosphatidylcholine transfer protein

Enables phosphatidylcholine binding activity and phosphatidylcholine transporter activity. Involved in phospholipid transport. Predicted to be located in cytosol. [provided by Alliance of Genome Resources, Mar 2025]

transfer RNA-Lys (TTT) 9-1

transfer RNA-Gly (GCC) 2-2

transfer RNA-Asn (GTT) 7-1

nuclear-encoded mitochondrial transfer RNA-Gln (TTG) 6-1

transfer RNA-Asn (GTT) 22-1

transfer RNA serine (anticodon CGA)

This record serves to anchor the annotations of this class of tRNAs at multiple locations on the human genome. The placements are predicted using tRNAscan-SE (Lowe, T.M. and Eddy, S.R. 1997. Nucleic Acids Res. 25:955-964, PubMed 9023104).

transfer RNA valine (anticodon UAC)

This record serves to anchor the annotations of this class of tRNAs at multiple locations on the human genome. The placements are predicted using tRNAscan-SE (Lowe, T.M. and Eddy, S.R. 1997. Nucleic Acids Res. 25:955-964, PubMed 9023104).

transfer RNA-Tyr (GTA) 5-2

transfer RNA-Tyr (GTA) 5-3

transfer RNA-Tyr (GTA) 5-1

transfer RNA-Tyr (GTA) 5-4

transfer RNA-Tyr (GTA) 5-5

nuclear-encoded mitochondrial transfer RNA-Gln (TTG) 13-1

transfer RNA-Lys (CTT) 9-1

transfer RNA-Pro (TGG) 3-5

transfer RNA-Pro (TGG) 3-4

transfer RNA-Pro (TGG) 3-3

transfer RNA-Pro (TGG) 3-2

transfer RNA-Pro (TGG) 3-1

transfer RNA glycine (anticodon CCC)

This record serves to anchor the annotations of this class of tRNAs at multiple locations on the human genome. The placements are predicted using tRNAscan-SE (Lowe, T.M. and Eddy, S.R. 1997. Nucleic Acids Res. 25:955-964, PubMed 9023104).

transfer RNA glutamine (anticodon UUG)

This record serves to anchor the annotations of this class of tRNAs at multiple locations on the human genome. The placements are predicted using tRNAscan-SE (Lowe, T.M. and Eddy, S.R. 1997. Nucleic Acids Res. 25:955-964, PubMed 9023104).

phosphatidylinositol transfer protein, alpha

This gene encodes a member of a family of lipid-binding proteins that transfer molecules of phosphatidylinositol or phosphatidylcholine between membrane surfaces. The protein is implicated in phospholipase C signaling and in the production of phosphatidylinositol 3,4,5-trisphosphate (PIP3) by phosphoinositide-3-kinase.[provided by RefSeq, Sep 2009]

phosphatidylinositol transfer protein, beta

This gene encodes a cytoplasmic protein that catalyzes the transfer of phosphatidylinositol and phosphatidylcholine between membranes. This transfer activity is required for COPI complex-mediated retrograde transport from the Golgi apparatus to the endoplasmic reticulum. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Sep 2013]

transfer RNA-Ala (AGC) 18-1

transfer RNA-Ala (AGC) 18-2

transfer RNA-Ala (AGC) 3-1

nuclear-encoded mitochondrial transfer RNA-Val (TAC) 1-1

transfer RNA-Cys (GCA) 14-1

transfer RNA-Lys (CTT) 8-1

transfer RNA-Lys (TTT) 13-1

transfer RNA ochre suppressor(anticodon UUA)

This record serves to anchor the annotations of this class of tRNAs at multiple locations on the human genome. The placements are predicted using tRNAscan-SE (Lowe, T.M. and Eddy, S.R. 1997. Nucleic Acids Res. 25:955-964, PubMed 9023104).

nuclear-encoded mitochondrial transfer RNA-Leu (TAA) 4-1

transfer RNA-Pro (TGG) 2-1

transfer RNA-Asp (GTC) 2-6

transfer RNA-Asp (GTC) 2-7

transfer RNA-Asp (GTC) 2-2

transfer RNA-Asp (GTC) 2-3

transfer RNA-Asp (GTC) 2-8

transfer RNA-Val (AAC) 3-1

transfer RNA-Lys (TTT) 12-1

transfer RNA-Ala (AGC) 14-1

transfer RNA-Ala (TGC) 4-1

nuclear-encoded mitochondrial transfer RNA-Leu (TAA) 5-1

transfer RNA-Gln (CTG) 4-1

transfer RNA-Gln (CTG) 4-2

transfer RNA methionine (anticodon CAU)

This record serves to anchor the annotations of this class of tRNAs at multiple locations on the human genome. The placements are predicted using tRNAscan-SE (Lowe, T.M. and Eddy, S.R. 1997. Nucleic Acids Res. 25:955-964, PubMed 9023104).

nuclear-encoded mitochondrial transfer RNA-Gln (TTG) 7-1

transfer RNA leucine 47 (anticodon AAG) pseudogene

transfer RNA-undetermined (NNN) 2-1

transfer RNA phenylalanine (anticodon GAA)

This record serves to anchor the annotations of this class of tRNAs at multiple locations on the human genome. The placements are predicted using tRNAscan-SE (Lowe, T.M. and Eddy, S.R. 1997. Nucleic Acids Res. 25:955-964, PubMed 9023104).

transfer RNA-Leu (AAG) 2-3

transfer RNA-Leu (AAG) 2-2

transfer RNA-Leu (AAG) 2-1

transfer RNA-Leu (AAG) 2-4

transfer RNA-Ala (TGC) 5-1

transfer RNA-His (GTG) 1-8

transfer RNA-Ile (AAT) 3-1

transfer RNA-Ile (GAT) 1-1

transfer RNA-Ile (GAT) 1-2

transfer RNA-Ile (GAT) 1-3

transfer RNA-undetermined (NNN) 3-1

transfer RNA-Gln (CTG) 3-2

transfer RNA serine (anticodon AGA)

This record serves to anchor the annotations of this class of tRNAs at multiple locations on the human genome. The placements are predicted using tRNAscan-SE (Lowe, T.M. and Eddy, S.R. 1997. Nucleic Acids Res. 25:955-964, PubMed 9023104).

transfer RNA-Glu (TTC) 7-1

transfer RNA-Ala (AGC) 19-1

transfer RNA-Leu (AAG) 6-1

transfer RNA-Ile (AAT) 12-1

transfer RNA-Gln (CTG) 1-4

transfer RNA-Gln (CTG) 1-1

transfer RNA-Gln (CTG) 1-2

transfer RNA-Gln (CTG) 1-3

transfer RNA-Gln (TTG) 3-3

transfer RNA-Gln (TTG) 3-2

transfer RNA-Gln (TTG) 3-1

transfer RNA-Arg (CCG) 1-2

transfer RNA-Arg (CCG) 1-3

StAR-related lipid transfer (START) domain containing 10

Predicted to enable lipid binding activity. Predicted to be involved in lipid transport. Predicted to act upstream of or within bile acid secretion and positive regulation of peroxisome proliferator activated receptor signaling pathway. Located in cytosol. [provided by Alliance of Genome Resources, Mar 2025]

StAR-related lipid transfer (START) domain containing 13

This gene encodes a protein which contains an N-terminal sterile alpha motif (SAM) for protein-protein interactions, followed by an ATP/GTP-binding motif, a GTPase-activating protein (GAP) domain, and a C-terminal STAR-related lipid transfer (START) domain. It may be involved in regulation of cytoskeletal reorganization, cell proliferation, and cell motility, and acts as a tumor suppressor in hepatoma cells. The gene is located in a region of chromosome 13 that is associated with loss of heterozygosity in hepatocellular carcinomas. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Aug 2011]

transfer RNA-Arg (CCT) 4-1

StAR-related lipid transfer (START) domain containing 9

Enables microtubule binding activity and microtubule motor activity. Involved in spindle assembly. Located in centriole; cytoplasm; and nucleus. [provided by Alliance of Genome Resources, Mar 2025]

glycolipid transfer protein domain containing 2

Predicted to enable ceramide 1-phosphate binding activity and ceramide 1-phosphate transfer activity. Predicted to be involved in ceramide transport and intermembrane lipid transfer. Predicted to be located in cytoplasm. Predicted to be active in cytosol. [provided by Alliance of Genome Resources, Mar 2025]

StAR-related lipid transfer (START) domain containing 4

Cholesterol homeostasis is regulated, at least in part, by sterol regulatory element (SRE)-binding proteins (e.g., SREBP1; MIM 184756) and by liver X receptors (e.g., LXRA; MIM 602423). Upon sterol depletion, LXRs are inactive and SREBPs are cleaved, after which they bind promoter SREs and activate genes involved in cholesterol biosynthesis and uptake. Sterol transport is mediated by vesicles or by soluble protein carriers, such as steroidogenic acute regulatory protein (STAR; MIM 600617). STAR is homologous to a family of proteins containing a 200- to 210-amino acid STAR-related lipid transfer (START) domain, including STARD4 (Soccio et al., 2002 [PubMed 12011452]).[supplied by OMIM, Mar 2008]

StAR-related lipid transfer (START) domain containing 5

Proteins containing a steroidogenic acute regulatory-related lipid transfer (START) domain are often involved in the trafficking of lipids and cholesterol between diverse intracellular membranes. This gene is a member of the StarD subfamily that encodes START-related lipid transfer proteins. The protein encoded by this gene is a cholesterol transporter and is also able to bind and transport other sterol-derived molecules related to the cholesterol/bile acid biosynthetic pathways such as 25-hydroxycholesterol. Its expression is upregulated during endoplasmic reticulum (ER) stress. The protein is thought to act as a cytosolic sterol transporter that moves cholesterol between intracellular membranes such as from the cytoplasm to the ER and from the ER to the Golgi apparatus. Alternative splicing of this gene produces multiple transcript variants. [provided by RefSeq, Jan 2016]

transfer RNA valine (anticodon CAC)

This record serves to anchor the annotations of this class of tRNAs at multiple locations on the human genome. The placements are predicted using tRNAscan-SE (Lowe, T.M. and Eddy, S.R. 1997. Nucleic Acids Res. 25:955-964, PubMed 9023104).

transfer RNA-Leu (CAA) 1-1

transfer RNA-Leu (CAA) 1-2

transfer RNA-Ala (AGC) 15-1

transfer RNA-Gln (TTG) 2-1

transfer RNA-Gln (CTG) 5-1

transfer RNA-Gly (GCC) 1-5

transfer RNA-Gly (GCC) 1-1

transfer RNA-Gly (GCC) 1-3

transfer RNA-Gly (GCC) 1-2

transfer RNA-Thr (TGT) 6-1

transfer RNA-Phe (GAA) 4-1

transfer RNA suppressor (TTA) 3-1

cholesteryl ester transfer protein, plasma

The protein encoded by this gene is found in plasma, where it is involved in the transfer of cholesteryl ester from high density lipoprotein (HDL) to other lipoproteins. Defects in this gene are a cause of hyperalphalipoproteinemia 1 (HALP1). Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2013]

transfer RNA-Ala (AGC) 2-1

transfer RNA-Arg (TCG) 5-1

transfer RNA-Lys (CTT) 3-1

transfer RNA-Gly (TCC) 2-4

transfer RNA-Arg (CCT) 7-1

transfer RNA-Thr (TGT) 2-1

transfer RNA-Pro (AGG) 4-1

transfer RNA-Ser (AGA) 3-1

transfer RNA-Ser (AGA) 2-1

transfer RNA-Arg (TCG) 4-1

transfer RNA-Glu (CTC) 4-1

transfer RNA-Asn (GTT) 16-1

transfer RNA-Asn (GTT) 16-3

transfer RNA-Asn (GTT) 16-2

transfer RNA-Asn (GTT) 16-5

transfer RNA-Asn (GTT) 16-4

transfer RNA-Cys (GCA) 1-1

transfer RNA-Pro (AGG) 5-1

transfer RNA-Lys (CTT) 14-1

transfer RNA-Val (CAC) 13-1

transfer RNA-undetermined (NNN) 1-1

transfer RNA-Ser (AGA) 2-4

Hoe et al. (1987) [PubMed 3697066] sequenced a human serine (AGA) tRNA by the dideoxysequencing method and compared it with previously sequenced serine tRNAs.[supplied by OMIM, Sep 2009]

transfer RNA-Ser (AGA) 2-5

transfer RNA-Ser (AGA) 2-2

transfer RNA-Ser (AGA) 2-3

transfer RNA-Ser (GCT) 1-1

transfer RNA-Leu (CAA) 3-1

transfer RNA isoleucine (anticodon UAU)

This record serves to anchor the annotations of this class of tRNAs at multiple locations on the human genome. The placements are predicted using tRNAscan-SE (Lowe, T.M. and Eddy, S.R. 1997. Nucleic Acids Res. 25:955-964, PubMed 9023104).

ceramide-1-phosphate transfer protein

Enables ceramide 1-phosphate binding activity and ceramide 1-phosphate transfer activity. Involved in ceramide 1-phosphate transport; negative regulation of NLRP3 inflammasome complex assembly; and negative regulation of metabolic process. Located in cytosol. [provided by Alliance of Genome Resources, Mar 2025]

transfer RNA-Glu (TTC) 6-1

transfer RNA-Ala (CGC) 1-1

transfer RNA-iMet (CAT) 3-1

transfer RNA-Val (CAC) 10-1

transfer RNA-Gly (TCC) 3-1

transfer RNA-Ile (AAT) 6-1

transfer RNA-Glu (CTC) 1-7

transfer RNA-Glu (CTC) 1-1

transfer RNA-Glu (CTC) 1-2

transfer RNA-Tyr (GTA) 2-1

transfer RNA-Lys (CTT) 2-1

transfer RNA-Lys (CTT) 2-2

transfer RNA-Lys (CTT) 2-3

transfer RNA-Lys (CTT) 2-5

transfer RNA-Ala (AGC) 23-1

transfer RNA-Pro (AGG) 2-3

transfer RNA-Pro (AGG) 2-8

transfer RNA-Leu (CAA) 4-1

transfer RNA-Gly (GCC) 1-4

transfer RNA-Ala (TGC) 8-1

transfer RNA-Trp (CCA) 7-1

transfer RNA-Asp (GTC) 9-1

transfer RNA-Val (CAC) 12-1

transfer RNA-SeC (TCA) 1-1

Opal suppressor phosphoserine tRNAs are the only authentic, naturally occurring suppressor tRNAs in higher eukaryotes. The human genome contains a single opal suppressor phosphoserine tRNA gene, TRNAU1 (O'Neill et al., 1985 [PubMed 3156131]).[supplied by OMIM, Nov 2010]

transfer RNA-Asn (ATT) 1-2

nuclear-encoded mitochondrial transfer RNA-Ser (TGA) 1-1

phosphatidylinositol transfer protein, cytoplasmic 1 pseudogene

transfer RNA-Ile (AAT) 7-1

transfer RNA-Ile (AAT) 7-2

transfer RNA alanine (anticodon UGC)

This record serves to anchor the annotations of this class of tRNAs at multiple locations on the human genome. The placements are predicted using tRNAscan-SE (Lowe, T.M. and Eddy, S.R. 1997. Nucleic Acids Res. 25:955-964, PubMed 9023104).

transfer RNA-Arg (TCG) 2-1

transfer RNA-Cys (GCA) 4-1

transfer RNA-Thr (CGT) 1-1

transfer RNA-Asp (GTC) 8-1

transfer RNA-Asn (GTT) 20-1

transfer RNA-iMet (CAT) 2-1

Santos and Zasloff (1981) [PubMed 6261953] identified 12 initiator methionine tRNA genes, symbolized tRNA-i(met), in the haploid human genome. Zasloff et al. (1982) [PubMed 6923137] found a variant tRNA-i(met) with a G-to-T transversion in the highly conserved TCGA sequence in loop 4, a sequence position occupied exclusively by a purine (usually G) in almost 200 prokaryotic and eukaryotic tRNAs. One functional consequence of this base substitution is reduction in the rate of processing of the primary transcript of the gene. A second, demonstrated by microinjection into the germinal vesicle of the intact Xenopus laevis oocyte, is blockage of egress from the nucleus. It has been estimated that the human haploid genome contains 1,000 to 2,000 tRNA genes and that there are 50 to 60 chromatographically distinct tRNA species. These observations suggest redundancy of some tRNA genes. The studies of initiator methionine tRNA genes bear out this suspicion.[supplied by OMIM, Sep 2009]

transfer RNA-undetermined (NNN) 10-1

transfer RNA-Leu (TAG) 3-1

transfer RNA-Phe (GAA) 10-1

transfer RNA-undetermined (NNN) 5-1

transfer RNA-Ala (AGC) 4-1

nuclear-encoded mitochondrial transfer RNA-Gln (TTG) 11-1

transfer RNA-Gly (CCC) 4-1

transfer RNA-undetermined (NNN) 4-1

transfer RNA-Cys (GCA) 5-1

transfer RNA-Asn (GTT) 21-1

transfer RNA-Ser (GCT) 4-1

transfer RNA-Ser (GCT) 4-3

transfer RNA-Ser (GCT) 4-2

tocopherol (alpha) transfer protein-like

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

transfer RNA-Asn (ATT) 1-1

transfer RNA-Leu (AAG) 3-1

transfer RNA-Thr (TGT) 4-1

transfer RNA-Pro (AGG) 3-1

transfer RNA-Leu (CAA) 5-1

transfer RNA-Ala (AGC) 7-1

transfer RNA-Phe (GAA) 6-1

transfer RNA-Gly (CCC) 6-1

transfer RNA-Cys (GCA) 23-1

transfer RNA-Lys (CTT) 12-1

transfer RNA-Trp (CCA) 6-1

transfer RNA-Gly (GCC) 5-1

transfer RNA-Ala (AGC) 6-1

transfer RNA-Leu (CAG) 2-1

transfer RNA-Leu (CAG) 2-2

transfer RNA-Arg (ACG) 2-4

transfer RNA-Arg (ACG) 2-3

transfer RNA-Arg (ACG) 2-2

transfer RNA-Arg (ACG) 2-1

transfer RNA-Phe (GAA) 2-1

nuclear-encoded mitochondrial transfer RNA-Leu (TAA) 3-1

transfer RNA-Lys (TTT) 1-1

transfer RNA-Gly (TCC) 1-1

transfer RNA-Ala (TGC) 3-1

transfer RNA-Ala (TGC) 3-2

transfer RNA-Leu (TAG) 2-1

transfer RNA-Asn (GTT) 2-6

transfer RNA-Asn (GTT) 2-5

transfer RNA-Asn (GTT) 2-4

transfer RNA-Asn (GTT) 2-3

transfer RNA-Asn (GTT) 2-2

transfer RNA-Asn (GTT) 2-1

The saturation hybridization studies of Hatlen and Attardi (1971) [PubMed 4929578] indicated a copy number of tRNA genes of 1,300 for the haploid human genome--an average of 65 gene copies for each tRNA species. These genes tend to be clustered, an arrangement that would facilitate the exchange of sequence information and enable them to evolve together.[supplied by OMIM, Sep 2009]

nuclear-encoded mitochondrial transfer RNA-Gln (TTG) 10-1

transfer RNA-Glu (CTC) 1-4

transfer RNA-Glu (CTC) 1-6

transfer RNA-Gln (CTG) 17-1

transfer RNA-Pro (AGG) 2-5

transfer RNA-Gly (TCC) 5-1

transfer RNA-Ser (GCT) 5-1

transfer RNA-Tyr (GTA) 12-1

transfer RNA-Arg (TCG) 3-1

transfer RNA-Asn (GTT) 3-2

transfer RNA-Asn (GTT) 3-1

transfer RNA-Phe (GAA) 11-1

transfer RNA-Lys (CTT) 2-4

transfer RNA-Phe (GAA) 7-1

transfer RNA glutamic acid (anticodon CUC)

This record serves to anchor the annotations of this class of tRNAs at multiple locations on the human genome. The placements are predicted using tRNAscan-SE (Lowe, T.M. and Eddy, S.R. 1997. Nucleic Acids Res. 25:955-964, PubMed 9023104).

transfer RNA-Cys (GCA) 22-1

transfer RNA-Asp (GTC) 10-1

transfer RNA-Met (CAT) 4-1

transfer RNA-Met (CAT) 4-3

transfer RNA-Met (CAT) 4-2

transfer RNA-Val (CAC) 3-1

transfer RNA-His (GTG) 3-1

transfer RNA-Gly (GCC) 4-1

transfer RNA-Val (CAC) 14-1

transfer RNA isoleucine (anticodon GAU)

This record serves to anchor the annotations of this class of tRNAs at multiple locations on the human genome. The placements are predicted using tRNAscan-SE (Lowe, T.M. and Eddy, S.R. 1997. Nucleic Acids Res. 25:955-964, PubMed 9023104).

transfer RNA-Leu (CAG) 3-1

transfer RNA-Glu (TTC) 1-1

transfer RNA-Glu (TTC) 1-2

transfer RNA-Phe (GAA) 3-1

nuclear-encoded mitochondrial transfer RNA-Gln (TTG) 9-1

transfer RNA-Lys (CTT) 15-1

transfer RNA-Pro (CGG) 1-1

transfer RNA-Pro (CGG) 1-2

transfer RNA-Pro (CGG) 1-3

transfer RNA opal suppressor (anticodon UCA)

This record serves to anchor the annotations of this class of tRNAs at multiple locations on the human genome. The placements are predicted using tRNAscan-SE (Lowe, T.M. and Eddy, S.R. 1997. Nucleic Acids Res. 25:955-964, PubMed 9023104).

transfer RNA-Asn (GTT) 9-1

tocopherol (alpha) transfer protein

This gene encodes a soluble protein that binds alpha-trocopherol, a form of vitamin E, with high selectivity and affinity. This protein plays an important role in regulating vitamin E levels in the body by transporting vitamin E between membrane vesicles and facilitating the secretion of vitamin E from hepatocytes to circulating lipoproteins. Mutations in this gene cause hereditary vitamin E deficiency (ataxia with vitamin E deficiency, AVED) and retinitis pigmentosa. [provided by RefSeq, Nov 2009]

transfer RNA-Ala (AGC) 17-1

transfer RNA suppressor (CTA) 3-1

transfer RNA-Ala (AGC) 5-1

transfer RNA-Trp (CCA) 3-3

transfer RNA-Trp (CCA) 3-2

transfer RNA cysteine (anticodon GCA)

This record serves to anchor the annotations of this class of tRNAs at multiple locations on the human genome. The placements are predicted using tRNAscan-SE (Lowe, T.M. and Eddy, S.R. 1997. Nucleic Acids Res. 25:955-964, PubMed 9023104).

transfer RNA proline (anticodon CGG)

This record serves to anchor the annotations of this class of tRNAs at multiple locations on the human genome. The placements are predicted using tRNAscan-SE (Lowe, T.M. and Eddy, S.R. 1997. Nucleic Acids Res. 25:955-964, PubMed 9023104).

transfer RNA-Trp (CCA) 1-1

transfer RNA-Asp (GTC) 5-1

transfer RNA-Gln (CTG) 16-1

transfer RNA-Met (CAT) 1-1

transfer RNA suppressor (CTA) 2-1

transfer RNA-Ala (AGC) 12-3

transfer RNA-Ser (AGA) 5-1

transfer RNA-Val (TAC) 3-1

transfer RNA-Lys (TTT) 10-1

nuclear-encoded mitochondrial transfer RNA-Leu (TAA) 6-1

transfer RNA-Thr (CGT) 5-1

transfer RNA-Ala (AGC) 22-1

transfer RNA-Pro (AGG) 2-1

transfer RNA-Pro (AGG) 2-2

transfer RNA-Pro (AGG) 2-4

transfer RNA-Pro (AGG) 2-7

transfer RNA-Met (CAT) 5-1

transfer RNA-Lys (TTT) 3-5

transfer RNA-His (GTG) 2-1

transfer RNA-Cys (GCA) 16-1

transfer RNA-Ser (CGA) 4-1

transfer RNA-Ala (TGC) 6-1

transfer RNA-Gly (CCC) 3-1

transfer RNA-His (GTG) 1-3

transfer RNA-Thr (CGT) 6-1

transfer RNA-Glu (TTC) 10-1

transfer RNA-Leu (TAA) 3-1

transfer RNA-Leu (AAG) 7-1

transfer RNA aspartic acid (anticodon GUC)

This record serves to anchor the annotations of this class of tRNAs at multiple locations on the human genome. The placements are predicted using tRNAscan-SE (Lowe, T.M. and Eddy, S.R. 1997. Nucleic Acids Res. 25:955-964, PubMed 9023104).

transfer RNA-Cys (GCA) 12-1

transfer RNA-Cys (GCA) 6-1

transfer RNA-Ile (AAT) 11-1

transfer RNA-Arg (CCT) 9-1

transfer RNA-Gly (CCC) 2-1

transfer RNA-Asn (GTT) 13-1

transfer RNA leucine (anticodon CAG)

This record serves to anchor the annotations of this class of tRNAs at multiple locations on the human genome. The placements are predicted using tRNAscan-SE (Lowe, T.M. and Eddy, S.R. 1997. Nucleic Acids Res. 25:955-964, PubMed 9023104).

transfer RNA leucine (anticodon CAA)

This record serves to anchor the annotations of this class of tRNAs at multiple locations on the human genome. The placements are predicted using tRNAscan-SE (Lowe, T.M. and Eddy, S.R. 1997. Nucleic Acids Res. 25:955-964, PubMed 9023104).

transfer RNA-Gly (CCC) 7-1

transfer RNA-Gln (TTG) 7-1

transfer RNA-Trp (CCA) 2-1

transfer RNA-Lys (TTT) 4-1

transfer RNA-Arg (CCG) 2-1

transfer RNA-Arg (CCT) 8-1

transfer RNA-Glu (CTC) 17-1

transfer RNA-Thr (AGT) 3-1

transfer RNA-Ala (CGC) 4-1

transfer RNA-Gln (TTG) 6-1

transfer RNA-Lys (TTT) 5-1

transfer RNA-Thr (CGT) 4-1

transfer RNA glycine (anticodon UCC)

This record serves to anchor the annotations of this class of tRNAs at multiple locations on the human genome. The placements are predicted using tRNAscan-SE (Lowe, T.M. and Eddy, S.R. 1997. Nucleic Acids Res. 25:955-964, PubMed 9023104).

nuclear-encoded mitochondrial transfer RNA-Pro (TGG) 1-1

transfer RNA-Leu (AAG) 8-1

transfer RNA glutamine (anticodon CUG)

This record serves to anchor the annotations of this class of tRNAs at multiple locations on the human genome. The placements are predicted using tRNAscan-SE (Lowe, T.M. and Eddy, S.R. 1997. Nucleic Acids Res. 25:955-964, PubMed 9023104).

transfer RNA-Ala (TGC) 7-1

microsomal triglyceride transfer protein

MTP encodes the large subunit of the heterodimeric microsomal triglyceride transfer protein. Protein disulfide isomerase (PDI) completes the heterodimeric microsomal triglyceride transfer protein, which has been shown to play a central role in lipoprotein assembly. Mutations in MTP can cause abetalipoproteinemia. [provided by RefSeq, Jul 2008]

transfer RNA-Lys (CTT) 7-1

transfer RNA-Arg (TCT) 2-1

Transfer RNA arginine-1 has an anticodon UCU (Morrison et al., 1991 [PubMed 2066114]).[supplied by OMIM, Sep 2009]

transfer RNA-Thr (AGT) 5-1

transfer RNA-Gln (CTG) 13-1

transfer RNA-Val (CAC) 6-1

transfer RNA-Gln (CTG) 11-1

transfer RNA glycine (anticodon GCC)

This record serves to anchor the annotations of this class of tRNAs at multiple locations on the human genome. The placements are predicted using tRNAscan-SE (Lowe, T.M. and Eddy, S.R. 1997. Nucleic Acids Res. 25:955-964, PubMed 9023104).

transfer RNA-Ala (AGC) 13-2

transfer RNA-Ile (AAT) 10-1

transfer RNA-Asn (GTT) 12-1

transfer RNA-Gln (CTG) 10-1

transfer RNA-Val (CAC) 7-1

transfer RNA-Lys (CTT) 10-1

transfer RNA-Ile (AAT) 2-1

transfer RNA-Val (CAC) 2-1

transfer RNA-Ser (AGA) 6-1

transfer RNA proline (anticodon UGG)

This record serves to anchor the annotations of this class of tRNAs at multiple locations on the human genome. The placements are predicted using tRNAscan-SE (Lowe, T.M. and Eddy, S.R. 1997. Nucleic Acids Res. 25:955-964, PubMed 9023104).

transfer RNA-Glu (TTC) 5-1

transfer RNA-Asn (GTT) 4-1

transfer RNA-Glu (CTC) 16-1

transfer RNA-Thr (AGT) 2-2

transfer RNA-Lys (CTT) 11-1

transfer RNA serine (anticodon UGA)

This record serves to anchor the annotations of this class of tRNAs at multiple locations on the human genome. The placements are predicted using tRNAscan-SE (Lowe, T.M. and Eddy, S.R. 1997. Nucleic Acids Res. 25:955-964, PubMed 9023104).

transfer RNA threonine (anticodon AGU)

This record serves to anchor the annotations of this class of tRNAs at multiple locations on the human genome. The placements are predicted using tRNAscan-SE (Lowe, T.M. and Eddy, S.R. 1997. Nucleic Acids Res. 25:955-964, PubMed 9023104).

transfer RNA-Val (TAC) 4-1

transfer RNA-Leu (TAA) 2-1

transfer RNA leucine (anticodon UAA)

This record serves to anchor the annotations of this class of tRNAs at multiple locations on the human genome. The placements are predicted using tRNAscan-SE (Lowe, T.M. and Eddy, S.R. 1997. Nucleic Acids Res. 25:955-964, PubMed 9023104).

transfer RNA-Tyr (GTA) 6-1

transfer RNA-Ile (AAT) 9-1

transfer RNA-Lys (CTT) 6-1

transfer RNA-Thr (AGT) 6-1

transfer RNA-Arg (TCT) 3-1

transfer RNA-Arg (TCT) 3-2

transfer RNA-Val (AAC) 1-1

transfer RNA-Ser (AGA) 1-1

transfer RNA-Gln (CTG) 12-1

transfer RNA-Val (CAC) 8-1

transfer RNA-His (GTG) 1-9

transfer RNA-His (GTG) 1-2

transfer RNA-Gln (CTG) 8-1

transfer RNA-Phe (GAA) 9-1

transfer RNA-Arg (TCG) 6-1

transfer RNA-Ile (TAT) 3-1

transfer RNA-Val (CAC) 11-2

transfer RNA-Pro (GGG) 1-1

transfer RNA-Val (AAC) 1-4

There appear to be about 1,300 tRNA genes in the human genome (Hatlen and Attardi, 1971 [PubMed 4929578]). Arnold et al. (1986) [PubMed 3023191] detected a minimum of 13 valine tRNA genes in genomic blots of human DNA.[supplied by OMIM, Sep 2009]

transfer RNA-Val (AAC) 1-5

nuclear-encoded mitochondrial transfer RNA-Leu (TAA) 2-1

transfer RNA-Lys (TTT) 11-1

transfer RNA-Ile (TAT) 2-2

transfer RNA-Ile (TAT) 2-3

transfer RNA-Ile (TAT) 2-1

transfer RNA arginine

transfer RNA-Glu (TTC) 4-1

transfer RNA-Glu (TTC) 4-2

transfer RNA-Cys (GCA) 7-1

transfer RNA-Pro (TGG) 5-1

transfer RNA-Asp (GTC) 4-1

transfer RNA-Glu (TTC) 14-1

transfer RNA-Glu (CTC) 5-1

nuclear-encoded mitochondrial transfer RNA-Gln (TTG) 1-1

nuclear-encoded mitochondrial transfer RNA-Gln (TTG) 15-1

transfer RNA-Val (AAC) 7-1

transfer RNA-Tyr (GTA) 7-1

transfer RNA-Asn (GTT) 19-1

transfer RNA-Val (CAC) 9-1

transfer RNA-Gly (GCC) 2-3

transfer RNA-Gly (GCC) 2-1

transfer RNA-Ala (AGC) 16-1

transfer RNA-Glu (CTC) 13-1

transfer RNA-Ala (CGC) 5-1

transfer RNA-Glu (CTC) 11-1

transfer RNA-Leu (TAA) 5-1

transfer RNA-Val (TAC) 1-1

transfer RNA-Val (TAC) 1-2

transfer RNA-Ala (AGC) 12-2

transfer RNA-Ala (AGC) 12-1

transfer RNA-Gln (CTG) 7-1

transfer RNA-Glu (CTC) 10-1

transfer RNA-Gln (TTG) 1-1

Mammalian cells contain at least 2 species of glutamine tRNA, the Gln(CUG) form (TRQ1; MIM 189919) and the Gln(UUG) form. Nemoto et al. (1991) [PubMed 2041751] reported the nucleotide sequence of the human tRNA(Gln/UUG) gene. In a correction, Nemoto et al. (1991) [PubMed 2041751] stated that the gene involved should have been designated tRNA-GLN/U*UG, where U* is a derivative of U.[supplied by OMIM, Sep 2009]

transfer RNA-Pro (TGG) 4-1

transfer RNA-Glu (TTC) 15-1

transfer RNA-Arg (CCT) 3-1

transfer RNA-Val (TAC) 2-1

transfer RNA-Ser (ACT) 1-1

transfer RNA-Ala (AGC) 13-1

phosphatidylinositol transfer protein, membrane-associated 1

PITPNM1 belongs to a family of membrane-associated phosphatidylinositol transfer domain-containing proteins that share homology with the Drosophila retinal degeneration B (rdgB) protein (Ocaka et al., 2005 [PubMed 15627748]).[supplied by OMIM, Mar 2008]

phosphatidylinositol transfer protein, membrane-associated 2

PITPNM2 belongs to a family of membrane-associated phosphatidylinositol transfer domain-containing proteins that share homology with the Drosophila retinal degeneration B (rdgB) protein (Ocaka et al., 2005 [PubMed 15627748]).[supplied by OMIM, Mar 2008]

nuclear-encoded mitochondrial transfer RNA-Gln (TTG) 14-1

transfer RNA-Ala (TGC) 2-1

transfer RNA-Thr (AGT) 2-1

transfer RNA-Leu (AAG) 1-1

transfer RNA-Leu (AAG) 1-2

transfer RNA-Leu (AAG) 1-3

transfer RNA-Val (CAC) 1-4

transfer RNA-Cys (GCA) 18-1

transfer RNA-Glu (CTC) 12-1

transfer RNA-Pro (AGG) 2-6

transfer RNA-Cys (GCA) 19-1

transfer RNA-Asn (GTT) 18-1

transfer RNA-Asp (GTC) 2-4

transfer RNA-Asp (GTC) 2-5

transfer RNA-Tyr (GTA) 11-1

transfer RNA-Tyr (GTA) 3-1

transfer RNA-Asp (GTC) 2-1

transfer RNA-Gly (CCC) 8-1

transfer RNA-Glu (TTC) 2-2

transfer RNA-Cys (GCA) 17-1

transfer RNA threonine (anticodon CGU)

This record serves to anchor the annotations of this class of tRNAs at multiple locations on the human genome. The placements are predicted using tRNAscan-SE (Lowe, T.M. and Eddy, S.R. 1997. Nucleic Acids Res. 25:955-964, PubMed 9023104).

transfer RNA-Lys (CTT) 16-1

transfer RNA-Val (AAC) 4-1

transfer RNA-Arg (CCT) 2-1

transfer RNA-undetermined (NNN) 9-1

transfer RNA-Arg (ACG) 1-3

transfer RNA-Asp (GTC) 1-1

transfer RNA-Thr (AGT) 7-1

transfer RNA-Thr (TGT) 5-1

transfer RNA-Val (AAC) 5-1

transfer RNA-SeC (TCA) 2-1

transfer RNA-Gly (TCC) 4-1

transfer RNA-Lys (TTT) 15-1

transfer RNA-Glu (CTC) 7-1

transfer RNA-Ser (CGA) 1-1

transfer RNA-Asn (GTT) 1-1

transfer RNA-Pro (TGG) 1-1

transfer RNA-SeC (TCA) 3-1

transfer RNA-Asp (GTC) 3-1

transfer RNA-Asp (GTC) 2-9

transfer RNA-Thr (TGT) 1-1

transfer RNA-Lys (TTT) 16-1

transfer RNA-Met (CAT) 7-1

transfer RNA-Cys (ACA) 1-1

transfer RNA-Tyr (GTA) 4-1

transfer RNA-Ile (AAT) 1-1

transfer RNA-Ala (TGC) 9-1

transfer RNA-Glu (TTC) 11-1

transfer RNA-Gln (CTG) 2-1

transfer RNA-Trp (CCA) 3-1

transfer RNA-Leu (CAA) 2-1

transfer RNA-Lys (TTT) 14-1

transfer RNA-Gln (CTG) 3-1

transfer RNA-Gln (TTG) 5-1

transfer RNA-Tyr (GTA) 8-1

transfer RNA-Gln (CTG) 6-1

StAR-related lipid transfer (START) domain containing 8

This gene encodes a member of a subfamily of Rho GTPase activating proteins that contain a steroidogenic acute regulatory protein related lipid transfer domain. The encoded protein localizes to focal adhesions and may be involved in regulating cell morphology. This protein may also function as a tumor suppressor. [provided by RefSeq, Mar 2010]

StAR-related lipid transfer (START) domain containing 3

This gene encodes a member of a subfamily of lipid trafficking proteins that are characterized by a C-terminal steroidogenic acute regulatory domain and an N-terminal metastatic lymph node 64 domain. The encoded protein localizes to the membranes of late endosomes and may be involved in exporting cholesterol. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Oct 2009]

StAR-related lipid transfer (START) domain containing 6

Cholesterol homeostasis is regulated, at least in part, by sterol regulatory element (SRE)-binding proteins (e.g., SREBP1; MIM 184756) and by liver X receptors (e.g., LXRA; MIM 602423). Upon sterol depletion, LXRs are inactive and SREBPs are cleaved, after which they bind promoter SREs and activate genes involved in cholesterol biosynthesis and uptake. Sterol transport is mediated by vesicles or by soluble protein carriers, such as steroidogenic acute regulatory protein (STAR; MIM 600617). STAR is homologous to a family of proteins containing a 200- to 210-amino acid STAR-related lipid transfer (START) domain, including STARD6 (Soccio et al., 2002 [PubMed 12011452]).[supplied by OMIM, Mar 2008]

StAR-related lipid transfer (START) domain containing 7

Predicted to enable lipid transfer activity. Predicted to be involved in ubiquinone biosynthetic process. Predicted to act upstream of or within several processes, including establishment of skin barrier; mucociliary clearance; and myeloid dendritic cell activation. Located in mitochondrion. Implicated in familial adult myoclonic epilepsy 2. [provided by Alliance of Genome Resources, Mar 2025]

transfer RNA-Asn (GTT) 5-1

transfer RNA-Ala (AGC) 20-1

transfer RNA-Tyr (GTA) 9-1

transfer RNA-Cys (GCA) 13-1

transfer RNA-Ser (GCT) 6-1

transfer RNA-Glu (CTC) 1-5

transfer RNA-Glu (CTC) 1-3

transfer RNA-Asn (GTT) 15-1

transfer RNA-undetermined (NNN) 8-1

transfer RNA-Asp (GTC) 7-1

transfer RNA lysine (anticodon UUU)

This record serves to anchor the annotations of this class of tRNAs at multiple locations on the human genome. The placements are predicted using tRNAscan-SE (Lowe, T.M. and Eddy, S.R. 1997. Nucleic Acids Res. 25:955-964, PubMed 9023104).

transfer RNA-Asn (GTT) 23-1

transfer RNA-Ser (GCT) 2-1

transfer RNA-Gln (TTG) 9-1

transfer RNA-Glu (TTC) 9-1

transfer RNA isoleucine (anticodon AAU)

This record serves to anchor the annotations of this class of tRNAs at multiple locations on the human genome. The placements are predicted using tRNAscan-SE (Lowe, T.M. and Eddy, S.R. 1997. Nucleic Acids Res. 25:955-964, PubMed 9023104).

glycolipid transfer protein pseudogene 1

transfer RNA-Gln (TTG) 4-1

transfer RNA-Cys (GCA) 25-1

transfer RNA-Pro (CGG) 2-1

nuclear-encoded mitochondrial transfer RNA-Gln (CTG) 1-1

transfer RNA-Ser (GCT) 3-1

transfer RNA-Gly (GCC) 3-1

transfer RNA-Arg (CCT) 6-2

transfer RNA-Phe (GAA) 1-6

transfer RNA-Phe (GAA) 1-4

transfer RNA-Phe (GAA) 1-5

transfer RNA-Phe (GAA) 1-2

transfer RNA-Phe (GAA) 1-3

transfer RNA-Phe (GAA) 1-1

transfer RNA-Glu (CTC) 2-1

transfer RNA asparagine (anticodon GUU)

This record serves to anchor the annotations of this class of tRNAs at multiple locations on the human genome. The placements are predicted using tRNAscan-SE (Lowe, T.M. and Eddy, S.R. 1997. Nucleic Acids Res. 25:955-964, PubMed 9023104).

transfer RNA-Lys (CTT) 1-2

transfer RNA-Lys (CTT) 1-1

transfer RNA-Cys (GCA) 24-1

transfer RNA-Gly (GCC) 2-6

transfer RNA-Gly (GCC) 2-4

transfer RNA-Gly (GCC) 2-5

transfer RNA proline (anticodon AGG)

This record serves to anchor the annotations of this class of tRNAs at multiple locations on the human genome. The placements are predicted using tRNAscan-SE (Lowe, T.M. and Eddy, S.R. 1997. Nucleic Acids Res. 25:955-964, PubMed 9023104).

transfer RNA-Gln (TTG) 10-1

transfer RNA-Glu (CTC) 3-1

transfer RNA-Glu (CTC) 6-1

transfer RNA valine (anticodon AAC)

This record serves to anchor the annotations of this class of tRNAs at multiple locations on the human genome. The placements are predicted using tRNAscan-SE (Lowe, T.M. and Eddy, S.R. 1997. Nucleic Acids Res. 25:955-964, PubMed 9023104).

transfer RNA suppressor (CTA) 1-1

transfer RNA-Val (CAC) 11-1

transfer RNA-Ser (AGA) 4-1

transfer RNA-Glu (TTC) 8-1

nuclear-encoded mitochondrial transfer RNA-Gln (TTG) 4-1

transfer RNA-Cys (GCA) 3-1

transfer RNA serine (anticodon GCU)

This record serves to anchor the annotations of this class of tRNAs at multiple locations on the human genome. The placements are predicted using tRNAscan-SE (Lowe, T.M. and Eddy, S.R. 1997. Nucleic Acids Res. 25:955-964, PubMed 9023104).

nuclear-encoded mitochondrial transfer RNA-Gln (TTG) 5-1

transfer RNA tryptophan (anticodon CCA)

This record serves to anchor the annotations of this class of tRNAs at multiple locations on the human genome. The placements are predicted using tRNAscan-SE (Lowe, T.M. and Eddy, S.R. 1997. Nucleic Acids Res. 25:955-964, PubMed 9023104).

transfer RNA-iMet (CAT) 1-8

transfer RNA-iMet (CAT) 1-3

transfer RNA-iMet (CAT) 1-2

transfer RNA-iMet (CAT) 1-1

transfer RNA-iMet (CAT) 1-7

transfer RNA-iMet (CAT) 1-6

transfer RNA-iMet (CAT) 1-5

transfer RNA-iMet (CAT) 1-4

transfer RNA leucine (anticodon AAG)

This record serves to anchor the annotations of this class of tRNAs at multiple locations on the human genome. The placements are predicted using tRNAscan-SE (Lowe, T.M. and Eddy, S.R. 1997. Nucleic Acids Res. 25:955-964, PubMed 9023104).

transfer RNA threonine (anticodon UGU)

This record serves to anchor the annotations of this class of tRNAs at multiple locations on the human genome. The placements are predicted using tRNAscan-SE (Lowe, T.M. and Eddy, S.R. 1997. Nucleic Acids Res. 25:955-964, PubMed 9023104).

bridge-like lipid transfer protein family member 2

This gene was initially characterized in human as having high expression levels in breast carcinomas and breast cancer cell lines. This gene also has increased expression in prostrate cancer cells relative to normal prostrate tissues. Expression of this gene is negatively regulated by direct binding of the microRNA miR-195 to its 3' UTR. miR-195 has been shown to modulate the invasiveness of prostrate cancer cells and xenograft metastases by downgrading expression of this gene. In mouse, the protein encoded by this gene was identified as an antigen on acute monocytic leukemia cells. In human, alternative splicing results in multiple transcript variants encoding distinct isoforms; some of these isoforms are predicted to contain an RNA pol II promoter FMP27 protein domain and a Golgi-body-localization APT1 domain. [provided by RefSeq, Apr 2017]

bridge-like lipid transfer protein family member 1

This gene is located on the long arm of chromosome 4 in a region that is associated with susceptibility to celiac disease. The encoded protein is similar to a Chinese hamster protein that is associated with spermatocyte and adipocyte differentiation. The C-terminus of the protein is also similar to a Caenorhabditis elegans protein that plays a role in lipid storage. In mammals, this protein is thought to function in the regulation of epithelial growth and differentiation, and in tumor development. [provided by RefSeq, Oct 2009]

bridge-like lipid transfer protein family member 3B

Enables GARP complex binding activity; lipid transfer activity; and protein homodimerization activity. Involved in early endosome to Golgi transport and intermembrane lipid transfer. Located in cytosol and early endosome. [provided by Alliance of Genome Resources, Mar 2025]

bridge-like lipid transfer protein family member 3A

Enables histone deacetylase binding activity and identical protein binding activity. Located in late endosome. [provided by Alliance of Genome Resources, Mar 2025]

apolipoprotein lipid transfer particle homolog