Harmonizome 3.0

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]

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]

phosphatidylinositol transfer protein, cytoplasmic 1 pseudogene

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]

phosphatidylinositol glycan anchor biosynthesis, class C, pseudogene 1

phosphatidylinositol glycan anchor biosynthesis, class C pseudogene 2

phosphatidylinositol glycan anchor biosynthesis, class F, pseudogene 1

phosphatidylinositol glycan anchor biosynthesis, class F, pseudogene 3

phosphatidylinositol glycan anchor biosynthesis, class U pseudogene 1

phosphatidylinositol glycan anchor biosynthesis, class H pseudogene 1

phospholipase C, gamma 2 (phosphatidylinositol-specific)

The protein encoded by this gene is a transmembrane signaling enzyme that catalyzes the conversion of 1-phosphatidyl-1D-myo-inositol 4,5-bisphosphate to 1D-myo-inositol 1,4,5-trisphosphate (IP3) and diacylglycerol (DAG) using calcium as a cofactor. IP3 and DAG are second messenger molecules important for transmitting signals from growth factor receptors and immune system receptors across the cell membrane. Mutations in this gene have been found in autoinflammation, antibody deficiency, and immune dysregulation syndrome and familial cold autoinflammatory syndrome 3. [provided by RefSeq, Mar 2014]

phosphatidylinositol 4-kinase, catalytic, alpha pseudogene 2

Predicted to enable kinase activity. Predicted to be involved in phosphatidylinositol phosphate biosynthetic process. [provided by Alliance of Genome Resources, Mar 2025]

phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2

The protein encoded by this gene belongs to the phosphatidylinositol 3,4,5-trisphosphate (PIP3)-dependent Rac exchanger (PREX) family, which are Dbl-type guanine-nucleotide exchange factors for Rac family small G proteins. Structural domains of this protein include the catalytic diffuse B-cell lymphoma homology and pleckstrin homology (DHPH) domain, two disheveled, EGL-10, and pleckstrin homology (DEP) domains, two PDZ domains, and a C-terminal inositol polyphosphate-4 phosphatase (IP4P) domain that is found in one of the isoforms. This protein facilitates the exchange of GDP for GTP on Rac1, allowing the GTP-bound Rac1 to activate downstream effectors. Studies also show that the pleckstrin homology domain of this protein interacts with the phosphatase and tensin homolog (PTEN) gene product to inhibit PTEN phosphatase activity, thus activating the phosphoinositide-3 kinase (PI3K) signaling pathway. Conversely, the PTEN gene product has also been shown to inhibit the GEF activity of this protein. This gene plays a role in insulin-signaling pathways, and either mutations or overexpression of this gene have been observed in some cancers. [provided by RefSeq, Apr 2016]

phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1

The protein encoded by this gene acts as a guanine nucleotide exchange factor for the RHO family of small GTP-binding proteins (RACs). It has been shown to bind to and activate RAC1 by exchanging bound GDP for free GTP. The encoded protein, which is found mainly in the cytoplasm, is activated by phosphatidylinositol-3,4,5-trisphosphate and the beta-gamma subunits of heterotrimeric G proteins. [provided by RefSeq, Jul 2008]

phosphatidylinositol glycan anchor biosynthesis, class Y pseudogene

phosphatidylinositol-5-phosphate 4-kinase, type II, alpha

Phosphatidylinositol-5,4-bisphosphate, the precursor to second messengers of the phosphoinositide signal transduction pathways, is thought to be involved in the regulation of secretion, cell proliferation, differentiation, and motility. The protein encoded by this gene is one of a family of enzymes capable of catalyzing the phosphorylation of phosphatidylinositol-5-phosphate on the fourth hydroxyl of the myo-inositol ring to form phosphatidylinositol-5,4-bisphosphate. The amino acid sequence of this enzyme does not show homology to other kinases, but the recombinant protein does exhibit kinase activity. This gene is a member of the phosphatidylinositol-5-phosphate 4-kinase family. [provided by RefSeq, Jul 2008]

phosphatidylinositol-5-phosphate 4-kinase, type II, gamma

Enables 1-phosphatidylinositol-4-phosphate 5-kinase activity and identical protein binding activity. Involved in 1-phosphatidyl-1D-myo-inositol 4,5-bisphosphate biosynthetic process; negative regulation of insulin receptor signaling pathway; and positive regulation of autophagosome assembly. Located in several cellular components, including autophagosome; cytosol; and nucleoplasm. [provided by Alliance of Genome Resources, Mar 2025]

phosphatidylinositol-5-phosphate 4-kinase, type II, beta

The protein encoded by this gene catalyzes the phosphorylation of phosphatidylinositol-5-phosphate on the fourth hydroxyl of the myo-inositol ring to form phosphatidylinositol-5,4-bisphosphate. This gene is a member of the phosphatidylinositol-5-phosphate 4-kinase family. The encoded protein sequence does not show similarity to other kinases, but the protein does exhibit kinase activity. Additionally, the encoded protein interacts with p55 TNF receptor. [provided by RefSeq, Jul 2008]

phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta

The protein encoded by this gene belongs to the phosphoinositide 3-kinase (PI3K) family. PI3-kinases play roles in signaling pathways involved in cell proliferation, oncogenic transformation, cell survival, cell migration, and intracellular protein trafficking. This protein contains a lipid kinase catalytic domain as well as a C-terminal C2 domain, a characteristic of class II PI3-kinases. C2 domains act as calcium-dependent phospholipid binding motifs that mediate translocation of proteins to membranes, and may also mediate protein-protein interactions. The PI3-kinase activity of this protein is sensitive to low nanomolar levels of the inhibitor wortmanin. The C2 domain of this protein was shown to bind phospholipids but not Ca2+, which suggests that this enzyme may function in a calcium-independent manner. [provided by RefSeq, Jul 2008]

phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha

The protein encoded by this gene belongs to the phosphoinositide 3-kinase (PI3K) family. PI3-kinases play roles in signaling pathways involved in cell proliferation, oncogenic transformation, cell survival, cell migration, and intracellular protein trafficking. This protein contains a lipid kinase catalytic domain as well as a C-terminal C2 domain, a characteristic of class II PI3-kinases. C2 domains act as calcium-dependent phospholipid binding motifs that mediate translocation of proteins to membranes, and may also mediate protein-protein interactions. The PI3-kinase activity of this protein is not sensitive to nanomolar levels of the inhibitor wortmanin. This protein was shown to be able to be activated by insulin and may be involved in integrin-dependent signaling. [provided by RefSeq, Jul 2008]

phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma

The protein encoded by this gene belongs to the phosphoinositide 3-kinase (PI3K) family. PI3-kinases play roles in signaling pathways involved in cell proliferation, oncogenic transformation, cell survival, cell migration, and intracellular protein trafficking. This protein contains a lipid kinase catalytic domain as well as a C-terminal C2 domain, a characteristic of class II PI3-kinases. C2 domains act as calcium-dependent phospholipid binding motifs that mediate translocation of proteins to membranes, and may also mediate protein-protein interactions. This gene may play a role in several diseases, including type II diabetes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]

phosphatidylinositol-4-phosphate 5-kinase, type I, pseudogene 1

phosphatidylinositol-4-phosphate 5-kinase, type I, pseudogene 2

phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha pseudogene

SMG1 phosphatidylinositol 3-kinase-related kinase

This gene encodes a protein involved in nonsense-mediated mRNA decay (NMD) as part of the mRNA surveillance complex. The protein has kinase activity and is thought to function in NMD by phosphorylating the regulator of nonsense transcripts 1 protein. Alternatively spliced transcript variants have been described, but their full-length nature has yet to be determined. [provided by RefSeq, Mar 2013]

phosphatidylinositol glycan anchor biosynthesis, class P pseudogene 3

phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta pseudogene

phosphatidylinositol glycan anchor biosynthesis, class A, pseudogene 1

phosphatidylinositol glycan anchor biosynthesis, class P

This gene encodes an enzyme involved in the first step of glycosylphosphatidylinositol (GPI)-anchor biosynthesis. The GPI-anchor is a glycolipid found on many blood cells that serves to anchor proteins to the cell surface. The encoded protein is a component of the GPI-N-acetylglucosaminyltransferase complex that catalyzes the transfer of N-acetylglucosamine (GlcNAc) from UDP-GlcNAc to phosphatidylinositol (PI). This gene is located in the Down Syndrome critical region on chromosome 21 and is a candidate for the pathogenesis of Down syndrome. This gene has multiple pseudogenes and is a member of the phosphatidylinositol glycan anchor biosynthesis gene family. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Feb 2016]

phosphatidylinositol glycan anchor biosynthesis, class A

This gene encodes a protein required for synthesis of N-acetylglucosaminyl phosphatidylinositol (GlcNAc-PI), the first intermediate in the biosynthetic pathway of GPI anchor. The GPI anchor is a glycolipid found on many blood cells and which serves to anchor proteins to the cell surface. Paroxysmal nocturnal hemoglobinuria, an acquired hematologic disorder, has been shown to result from mutations in this gene. Alternate splice variants have been characterized. A related pseudogene is located on chromosome 12. [provided by RefSeq, Jun 2010]

phosphatidylinositol glycan anchor biosynthesis, class B

This gene encodes a transmembrane protein that is located in the endoplasmic reticulum and is involved in GPI-anchor biosynthesis. The glycosylphosphatidylinositol (GPI) anchor is a glycolipid found on many blood cells and serves to anchor proteins to the cell surface. This gene is thought to encode a member of a family of dolichol-phosphate-mannose (Dol-P-Man) dependent mannosyltransferases. [provided by RefSeq, Jul 2008]

phosphatidylinositol glycan anchor biosynthesis, class C

This gene encodes an endoplasmic reticulum associated protein that is involved in glycosylphosphatidylinositol (GPI) lipid anchor biosynthesis. The GPI lipid anchor is a glycolipid found on many blood cells and serves to anchor proteins to the cell surface. The encoded protein is one subunit of the GPI N-acetylglucosaminyl (GlcNAc) transferase that transfers GlcNAc to phosphatidylinositol (PI) on the cytoplasmic side of the endoplasmic reticulum. Two alternatively spliced transcripts that encode the same protein have been found for this gene. A pseudogene on chromosome 11 has also been characterized. [provided by RefSeq, Jul 2008]

phosphatidylinositol glycan anchor biosynthesis, class F

This gene encodes a protein involved in glycosylphosphatidylinositol (GPI)-anchor biosynthesis. The GPI-anchor, a glycolipid containing three mannose molecules in its core backbone, is found on many blood cells where it serves to anchor proteins to the cell surface. The encoded protein and another GPI synthesis protein, PIGO, function in the transfer of ethanolaminephosphate to the third mannose in GPI. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]

phosphatidylinositol glycan anchor biosynthesis, class G

This gene encodes an enzyme involved in glycosylphosphatidylinositol-anchor biosynthesis. The encoded protein, which is localized to the endoplasmic reticulum, is involved in transferring ethanoloamine phosphate to mannose 2 of glycosylphosphatidylinositol species H7 to form species H8. Allelic variants of this gene have been associated with intellectual disability, hypotonia, and early-onset seizures. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]

phosphatidylinositol glycan anchor biosynthesis, class H

This gene encodes an endoplasmic reticulum associated protein that is involved in glycosylphosphatidylinositol (GPI)-anchor biosynthesis. The GPI anchor is a glycolipid found on many blood cells and which serves to anchor proteins to the cell surface. The protein encoded by this gene is a subunit of the GPI N-acetylglucosaminyl (GlcNAc) transferase that transfers GlcNAc to phosphatidylinositol (PI) on the cytoplasmic side of the endoplasmic reticulum. [provided by RefSeq, Jul 2008]

phosphatidylinositol glycan anchor biosynthesis, class K

This gene encodes a member of the cysteine protease family C13 that is involved in glycosylphosphatidylinositol (GPI)-anchor biosynthesis. The GPI-anchor is a glycolipid found on many blood cells and serves to anchor proteins to the cell surface. This protein is a member of the multisubunit enzyme, GPI transamidase and is thought to be its enzymatic component. GPI transamidase mediates GPI anchoring in the endoplasmic reticulum, by catalyzing the transfer of fully assembled GPI units to proteins. [provided by RefSeq, Jul 2008]

phosphatidylinositol glycan anchor biosynthesis, class L

This gene encodes an enzyme that catalyzes the second step of glycosylphosphatidylinositol (GPI) biosynthesis, which is the de-N-acetylation of N-acetylglucosaminylphosphatidylinositol (GlcNAc-PI). Study of a similar rat enzyme suggests that this protein localizes to the endoplasmic reticulum. [provided by RefSeq, Jul 2008]

phosphatidylinositol glycan anchor biosynthesis, class M

This gene encodes a transmembrane protein that is located in the endoplasmic reticulum and is involved in GPI-anchor biosynthesis. The glycosylphosphatidylinositol (GPI)-anchor is a glycolipid which contains three mannose molecules in its core backbone. The GPI-anchor is found on many blood cells and serves to anchor proteins to the cell surface. This gene encodes a mannosyltransferase, GPI-MT-I, that transfers the first mannose to GPI on the lumenal side of the endoplasmic reticulum. [provided by RefSeq, Jul 2008]

phosphatidylinositol glycan anchor biosynthesis, class N

This gene encodes a protein that is involved in glycosylphosphatidylinositol (GPI)-anchor biosynthesis. The GPI-anchor is a glycolipid found on many blood cells and serves to anchor proteins to the cell surface. This protein is expressed in the endoplasmic reticulum and transfers phosphoethanolamine (EtNP) to the first mannose of the GPI anchor. Two alternatively spliced variants, which encode an identical isoform, have been reported. [provided by RefSeq, Jul 2008]

phosphatidylinositol glycan anchor biosynthesis, class O

This gene encodes a protein that is involved in glycosylphosphatidylinositol (GPI)-anchor biosynthesis. The GPI-anchor is a glycolipid which contains three mannose molecules in its core backbone. The GPI-anchor is found on many blood cells and serves to anchor proteins to the cell surface. This protein is involved in the transfer of ethanolaminephosphate (EtNP) to the third mannose in GPI. At least three alternatively spliced transcripts encoding two distinct isoforms have been found for this gene. [provided by RefSeq, Jan 2011]

phosphatidylinositol glycan anchor biosynthesis, class Q

This gene is involved in the first step in glycosylphosphatidylinositol (GPI)-anchor biosynthesis. The GPI-anchor is a glycolipid found on many blood cells and serves to anchor proteins to the cell surface. This gene encodes a N-acetylglucosaminyl transferase component that is part of the complex that catalyzes transfer of N-acetylglucosamine (GlcNAc) from UDP-GlcNAc to phosphatidylinositol (PI). Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2012]

phosphatidylinositol glycan anchor biosynthesis, class S

This gene encodes a protein that is involved in GPI-anchor biosynthesis. The glycosylphosphatidylinositol (GPI) anchor is a glycolipid found on many blood cells and serves to anchor proteins to the cell surface. This gene encodes an essential component of the multisubunit enzyme, GPI transamidase. GPI transamidase mediates GPI anchoring in the endoplasmic reticulum, by catalyzing the transfer of fully assembled GPI units to proteins. [provided by RefSeq, Jul 2008]

phosphatidylinositol glycan anchor biosynthesis, class T

This gene encodes a protein that is involved in glycosylphosphatidylinositol (GPI)-anchor biosynthesis. The GPI-anchor is a glycolipid found on many blood cells and serves to anchor proteins to the cell surface. This protein is an essential component of the multisubunit enzyme, GPI transamidase. GPI transamidase mediates GPI anchoring in the endoplasmic reticulum, by catalyzing the transfer of fully assembled GPI units to proteins. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, May 2012]

phosphatidylinositol glycan anchor biosynthesis, class U

The protein encoded by this gene shares similarity with Saccharomyces cerevisiae Cdc91, a predicted integral membrane protein that may function in cell division control. The protein encoded by this gene is the fifth subunit of GPI transamidase that attaches GPI-anchors to proteins. [provided by RefSeq, Jul 2008]

phosphatidylinositol glycan anchor biosynthesis, class V

This gene encodes a mannosyltransferase enzyme involved in the biosynthesis of glycosylphosphatidylinositol (GPI). GPI is a complex glycolipid that functions as a membrane anchor for many proteins and plays a role in multiple cellular processes including protein sorting and signal transduction. The encoded protein is localized to the endoplasmic reticulum and transfers the second mannose to the GPI backbone. Mutations in this gene are associated with hyperphosphatasia cognitive disability syndrome. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Feb 2011]

phosphatidylinositol glycan anchor biosynthesis, class W

The protein encoded by this gene is an inositol acyltransferase that acylates the inositol ring of phosphatidylinositol. This occurs in the endoplasmic reticulum and is a step in the biosynthesis of glycosylphosphatidylinositol (GPI), which anchors many cell surface proteins to the membrane. Defects in this gene are a cause of the age-dependent epileptic encephalopathy West syndrome as well as a syndrome exhibiting hyperphosphatasia and cognitive disability (HPMRS5). [provided by RefSeq, Jul 2017]

phosphatidylinositol glycan anchor biosynthesis, class X

This gene encodes a type I transmembrane protein in the endoplasmic reticulum (ER). The protein is an essential component of glycosylphosphatidylinositol-mannosyltransferase I, which transfers the first of the four mannoses in the GPI-anchor precursors during GPI-anchor biosynthesis. Studies in rat indicate that the protein is translated from a non-AUG translation initiation site. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]

phosphatidylinositol glycan anchor biosynthesis, class Y

The protein encoded by this gene is part of the GPI-N-acetylglucosaminyltransferase (GIP-GnT) complex which initiates the biosynthesis of glycosylphosphatidylinositol (GPI). GPI is synthesized in the endoplasmic reticulum and serves as an anchor for many surface proteins. Proteins containing GPI anchors can have an important role in cell-cell interactions. The transcript for this gene is bicistronic. The downstream open reading frame encodes this GPI-GnT complex protein, while the upstream open reading frame encodes a protein with unknown function, as represented by GeneID:100996939. [provided by RefSeq, Aug 2012]

phosphatidylinositol glycan anchor biosynthesis, class Z

The glycosylphosphatidylinositol (GPI) anchor is a glycolipid found on many blood cells that serves to anchor proteins to the cell surface. This gene encodes a protein that is localized to the endoplasmic reticulum, and is involved in GPI anchor biosynthesis. As shown for the yeast homolog, which is a member of a family of dolichol-phosphate-mannose (Dol-P-Man)-dependent mannosyltransferases, this protein can also add a side-branching fourth mannose to GPI precursors during the assembly of GPI anchors. [provided by RefSeq, Jul 2008]

phosphatidylinositol-4-phosphate 5-kinase-like 1

PIP5KL1 is a phosphoinositide kinase-like protein that lacks intrinsic lipid kinase activity but associates with type I PIPKs (see PIP5K1A; MIM 603275) and may play a role in localization of PIPK activity (Chang et al., 2004 [PubMed 14701839]).[supplied by OMIM, Jun 2009]

phosphatidylinositol-specific phospholipase C, X domain containing 3

Predicted to enable phosphoric diester hydrolase activity. Predicted to be involved in lipid catabolic process and signal transduction. Predicted to be located in cytoplasm. Predicted to be active in glutamatergic synapse. [provided by Alliance of Genome Resources, Mar 2025]

phosphatidylinositol-specific phospholipase C, X domain containing 2

Predicted to enable phosphoric diester hydrolase activity. Predicted to be involved in lipid catabolic process and signal transduction. Predicted to be located in nucleus. [provided by Alliance of Genome Resources, Mar 2025]

phosphatidylinositol-specific phospholipase C, X domain containing 1

This gene is the most terminal protein-coding gene in the pseudoautosomal (PAR) region on chromosomes X and Y. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 2010]

phosphatidylinositol 4-kinase type 2 beta pseudogene

phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha

Phosphatidylinositol 3-kinase is composed of an 85 kDa regulatory subunit and a 110 kDa catalytic subunit. The protein encoded by this gene represents the catalytic subunit, which uses ATP to phosphorylate PtdIns, PtdIns4P and PtdIns(4,5)P2. This gene has been found to be oncogenic and has been implicated in cervical cancers. A pseudogene of this gene has been defined on chromosome 22. [provided by RefSeq, Apr 2016]

phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta

Phosphoinositide 3-kinases (PI3Ks) phosphorylate inositol lipids and are involved in the immune response. The protein encoded by this gene is a class I PI3K found primarily in leukocytes. Like other class I PI3Ks (p110-alpha p110-beta, and p110-gamma), the encoded protein binds p85 adapter proteins and GTP-bound RAS. However, unlike the other class I PI3Ks, this protein phosphorylates itself, not p85 protein.[provided by RefSeq, Jul 2010]

phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma

Phosphoinositide 3-kinases (PI3Ks) phosphorylate inositol lipids and are involved in the immune response. The protein encoded by this gene is a class I catalytic subunit of PI3K. Like other class I catalytic subunits (p110-alpha p110-beta, and p110-delta), the encoded protein binds a p85 regulatory subunit to form PI3K. This gene is located in a commonly deleted segment of chromosome 7 previously identified in myeloid leukemias. Several transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jun 2015]

phosphatidylinositol 3-kinase, catalytic subunit type 3

Enables 1-phosphatidylinositol-3-kinase activity. Involved in several processes, including early endosome to late endosome transport; macroautophagy; and phosphatidylinositol-3-phosphate biosynthetic process. Acts upstream of or within autophagy and positive regulation of protein lipidation. Located in autolysosome; late endosome; and midbody. Part of phosphatidylinositol 3-kinase complex, class III. [provided by Alliance of Genome Resources, Mar 2025]

phosphatidylinositol 4-kinase type 2 beta

This gene encodes a member of the type II PI4 kinase protein family. The encoded protein is primarily cytosolic and contributes to overall PI4-kinase activity along with other protein family members. This protein is involved in early T cell activation. [provided by RefSeq, Dec 2016]

phosphatidylinositol 4-kinase type 2 alpha

Phosphatidylinositolpolyphosphates (PtdInsPs) are centrally involved in many biologic processes, ranging from cell growth and organization of the actin cytoskeleton to endo- and exocytosis. PI4KII phosphorylates PtdIns at the D-4 position, an essential step in the biosynthesis of PtdInsPs (Barylko et al., 2001 [PubMed 11244087]).[supplied by OMIM, Mar 2008]

phospholipase C, beta 3 (phosphatidylinositol-specific)

This gene encodes a member of the phosphoinositide phospholipase C beta enzyme family that catalyze the production of the secondary messengers diacylglycerol and inositol 1,4,5-triphosphate from phosphatidylinositol in G-protein-linked receptor-mediated signal transduction. Alternative splicing results in multiple transcript variants.[provided by RefSeq, May 2010]

SMG1 phosphatidylinositol 3-kinase-related kinase pseudogene

phosphatidylinositol 4-kinase, catalytic, alpha pseudogene 1

phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta

This gene encodes an isoform of the catalytic subunit of phosphoinositide 3-kinase (PI3K). These kinases are important in signaling pathways involving receptors on the outer membrane of eukaryotic cells and are named for their catalytic subunit. The encoded protein is the catalytic subunit for PI3Kbeta (PI3KB). PI3KB has been shown to be part of the activation pathway in neutrophils which have bound immune complexes at sites of injury or infection. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2011]

phosphatidylinositol 4-kinase type 2 alpha pseudogene

phosphatidylinositol glycan anchor biosynthesis, class F, pseudogene 2

phosphatidylinositol binding clathrin assembly protein

This gene encodes a clathrin assembly protein, which recruits clathrin and adaptor protein complex 2 (AP2) to cell membranes at sites of coated-pit formation and clathrin-vesicle assembly. The protein may be required to determine the amount of membrane to be recycled, possibly by regulating the size of the clathrin cage. The protein is involved in AP2-dependent clathrin-mediated endocytosis at the neuromuscular junction. A chromosomal translocation t(10;11)(p13;q14) leading to the fusion of this gene and the MLLT10 gene is found in acute lymphoblastic leukemia, acute myeloid leukemia and malignant lymphomas. The polymorphisms of this gene are associated with the risk of Alzheimer disease. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2011]

phosphatidylinositol-4-phosphate 5-kinase, type I, gamma

This locus encodes a type I phosphatidylinositol 4-phosphate 5-kinase. The encoded protein catalyzes phosphorylation of phosphatidylinositol 4-phosphate, producing phosphatidylinositol 4,5-bisphosphate. This enzyme is found at synapses and has been found to play roles in endocytosis and cell migration. Mutations at this locus have been associated with lethal congenital contractural syndrome. Alternatively spliced transcript variants encoding different isoforms have been described.[provided by RefSeq, Sep 2010]

phosphatidylinositol-4-phosphate 5-kinase, type I, beta

Predicted to enable 1-phosphatidylinositol-4-phosphate 5-kinase activity. Predicted to be involved in phosphatidylinositol phosphate biosynthetic process. Predicted to act upstream of or within phosphatidylinositol biosynthetic process. Located in uropod. [provided by Alliance of Genome Resources, Mar 2025]

phosphatidylinositol-4-phosphate 5-kinase, type I, alpha

Enables 1-phosphatidylinositol-4-phosphate 5-kinase activity and kinase binding activity. Involved in several processes, including activation of GTPase activity; focal adhesion assembly; and ruffle assembly. Located in several cellular components, including lamellipodium; nucleus; and ruffle membrane. [provided by Alliance of Genome Resources, Mar 2025]

phosphatidylinositol 4-kinase, catalytic, beta

Enables 1-phosphatidylinositol 4-kinase activity and 14-3-3 protein binding activity. Involved in inner ear development. Acts upstream of or within lysosome organization. Located in Golgi membrane. Implicated in autosomal dominant nonsyndromic deafness 87. [provided by Alliance of Genome Resources, Mar 2025]

phosphatidylinositol 4-kinase, catalytic, alpha

This gene encodes a phosphatidylinositol (PI) 4-kinase which catalyzes the first committed step in the biosynthesis of phosphatidylinositol 4,5-bisphosphate. The mammalian PI 4-kinases have been classified into two types, II and III, based on their molecular mass, and modulation by detergent and adenosine. The protein encoded by this gene is a type III enzyme that is not inhibited by adenosine. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Apr 2018]

phosphatidylinositol-4,5-bisphosphate 4-phosphatase 1

TMEM55B catalyzes the degradation of phosphatidylinositol 4,5-bisphosphate (PtdIns-4,5-P2) by removing the 4-phosphate (Ungewickell et al., 2005 [PubMed 16365287]).[supplied by OMIM, Mar 2008]

phosphatidylinositol-4,5-bisphosphate 4-phosphatase 2

TMEM55A catalyzes the degradation of phosphatidylinositol 4,5-bisphosphate (PtdIns-4,5-P2) by removing the 4-phosphate (Ungewickell et al., 2005 [PubMed 16365287]).[supplied by OMIM, Mar 2008]

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

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).

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

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

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