Harmonizome 3.0

emopamil binding protein (sterol isomerase)

The protein encoded by this gene is an integral membrane protein of the endoplasmic reticulum. It is a high affinity binding protein for the antiischemic phenylalkylamine Ca2+ antagonist [3H]emopamil and the photoaffinity label [3H]azidopamil. It is similar to sigma receptors and may be a member of a superfamily of high affinity drug-binding proteins in the endoplasmic reticulum of different tissues. This protein shares structural features with bacterial and eukaryontic drug transporting proteins. It has four putative transmembrane segments and contains two conserved glutamate residues which may be involved in the transport of cationic amphiphilics. Another prominent feature of this protein is its high content of aromatic amino acid residues (>23%) in its transmembrane segments. These aromatic amino acid residues have been suggested to be involved in the drug transport by the P-glycoprotein. Mutations in this gene cause Chondrodysplasia punctata 2 (CDPX2; also known as Conradi-Hunermann syndrome). [provided by RefSeq, Jul 2008]

sterol-C5-desaturase

This gene encodes an enzyme of cholesterol biosynthesis. The encoded protein catalyzes the conversion of lathosterol into 7-dehydrocholesterol. Mutations in this gene have been associated with lathosterolosis. Alternatively spliced transcript variants encoding the same protein have been described. [provided by RefSeq, Jul 2008]

sterol carrier protein 2 pseudogene

sterol-C4-methyl oxidase pseudogene

SCP2 sterol-binding domain containing 1

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

sterol regulatory element binding transcription factor 2

This gene encodes a member of the a ubiquitously expressed transcription factor that controls cholesterol homeostasis by regulating transcription of sterol-regulated genes. The encoded protein contains a basic helix-loop-helix-leucine zipper (bHLH-Zip) domain and binds the sterol regulatory element 1 motif. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]

sterol regulatory element binding transcription factor 1

This gene encodes a basic helix-loop-helix-leucine zipper (bHLH-Zip) transcription factor that binds to the sterol regulatory element-1 (SRE1), which is a motif that is found in the promoter of the low density lipoprotein receptor gene and other genes involved in sterol biosynthesis. The encoded protein is synthesized as a precursor that is initially attached to the nuclear membrane and endoplasmic reticulum. Following cleavage, the mature protein translocates to the nucleus and activates transcription. This cleaveage is inhibited by sterols. This gene is located within the Smith-Magenis syndrome region on chromosome 17. Alternative promoter usage and splicing result in multiple transcript variants, including SREBP-1a and SREBP-1c, which correspond to RefSeq transcript variants 2 and 3, respectively. [provided by RefSeq, Nov 2017]

sterol O-acyltransferase 2

Summary:This gene is a member of a small family of acyl coenzyme A:cholesterol acyltransferases. The gene encodes a membrane-bound enzyme localized in the endoplasmic reticulum that produces intracellular cholesterol esters from long-chain fatty acyl CoA and cholesterol. The cholesterol esters are then stored as cytoplasmic lipid droplets inside the cell. The enzyme is implicated in cholesterol absorption in the intestine and in the assembly and secretion of apolipoprotein B-containing lipoproteins such as very low density lipoprotein (VLDL). Several alternatively spliced transcript variants of this gene have been described, but their full-length nature is not known. [provided by RefSeq, Jul 2008]

sterol O-acyltransferase 1

The protein encoded by this gene belongs to the acyltransferase family. It is located in the endoplasmic reticulum, and catalyzes the formation of fatty acid-cholesterol esters. This gene has been implicated in the formation of beta-amyloid and atherosclerotic plaques by controlling the equilibrium between free cholesterol and cytoplasmic cholesteryl esters. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Nov 2011]

sterol carrier protein 2

This gene encodes two proteins: sterol carrier protein X (SCPx) and sterol carrier protein 2 (SCP2), as a result of transcription initiation from 2 independently regulated promoters. The transcript initiated from the proximal promoter encodes the longer SCPx protein, and the transcript initiated from the distal promoter encodes the shorter SCP2 protein, with the 2 proteins sharing a common C-terminus. Evidence suggests that the SCPx protein is a peroxisome-associated thiolase that is involved in the oxidation of branched chain fatty acids, while the SCP2 protein is thought to be an intracellular lipid transfer protein. This gene is highly expressed in organs involved in lipid metabolism, and may play a role in Zellweger syndrome, in which cells are deficient in peroxisomes and have impaired bile acid synthesis. Alternative splicing of this gene produces multiple transcript variants, some encoding different isoforms.[provided by RefSeq, Aug 2010]

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

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]

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).

electron transfer flavoprotein regulatory factor 1

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

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]

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]

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