psui3905/ncbi_genes_summary huggingface dataset:
PIGPP3, Official Symbol PIGPP3provided by HGNC Official Full Name phosphatidylinositol glycan anchor biosynthesis class P pseudogene 3provided by HGNC Primary source HGNC:HGNC:45155 See related AllianceGenome:HGNC:45155 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
PIGPP4, Official Symbol PIGPP4provided by HGNC Official Full Name phosphatidylinositol glycan anchor biosynthesis class P pseudogene 4provided by HGNC Primary source HGNC:HGNC:45156 See related Ensembl:ENSG00000265564 AllianceGenome:HGNC:45156 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
PIGQ, Official Symbol PIGQprovided by HGNC Official Full Name phosphatidylinositol glycan anchor biosynthesis class Qprovided by HGNC Primary source HGNC:HGNC:14135 See related Ensembl:ENSG00000007541 MIM:605754; AllianceGenome:HGNC:14135 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as GPI1; DEE77; EIEE77; MCAHS4; GPIBD19; c407A10.1 Summary 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] Expression Ubiquitous expression in bone marrow (RPKM 21.8), kidney (RPKM 15.6) and 25 other tissues See more Orthologs mouse all
PIGQP1, Official Symbol PIGQP1provided by HGNC Official Full Name phosphatidylinositol glycan anchor biosynthesis class Q pseudogene 1provided by HGNC Primary source HGNC:HGNC:45157 See related Ensembl:ENSG00000227104 AllianceGenome:HGNC:45157 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
PIGR, Official Symbol PIGRprovided by HGNC Official Full Name polymeric immunoglobulin receptorprovided by HGNC Primary source HGNC:HGNC:8968 See related Ensembl:ENSG00000162896 MIM:173880; AllianceGenome:HGNC:8968 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary This gene is a member of the immunoglobulin superfamily. The encoded poly-Ig receptor binds polymeric immunoglobulin molecules at the basolateral surface of epithelial cells; the complex is then transported across the cell to be secreted at the apical surface. A significant association was found between immunoglobulin A nephropathy and several SNPs in this gene.[provided by RefSeq, Sep 2009] Expression Biased expression in duodenum (RPKM 1246.3), colon (RPKM 1042.2) and 5 other tissues See more Orthologs mouse all
PIGS, Official Symbol PIGSprovided by HGNC Official Full Name phosphatidylinositol glycan anchor biosynthesis class Sprovided by HGNC Primary source HGNC:HGNC:14937 See related Ensembl:ENSG00000087111 MIM:610271; AllianceGenome:HGNC:14937 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as DEE95; PIG-S; GPIBD18 Summary 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] Expression Ubiquitous expression in fat (RPKM 16.8), kidney (RPKM 16.1) and 25 other tissues See more Orthologs mouse all
PIGT, Official Symbol PIGTprovided by HGNC Official Full Name phosphatidylinositol glycan anchor biosynthesis class Tprovided by HGNC Primary source HGNC:HGNC:14938 See related Ensembl:ENSG00000124155 MIM:610272; AllianceGenome:HGNC:14938 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as NDAP; PNH2; PIG-T; CGI-06; MCAHS3 Summary 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] Expression Ubiquitous expression in heart (RPKM 45.9), colon (RPKM 41.3) and 25 other tissues See more Orthologs mouse all
PIGU, Official Symbol PIGUprovided by HGNC Official Full Name phosphatidylinositol glycan anchor biosynthesis class Uprovided by HGNC Primary source HGNC:HGNC:15791 See related Ensembl:ENSG00000101464 MIM:608528; AllianceGenome:HGNC:15791 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as GAB1; PIG-U; NEDBSS; CDC91L1; GPIBD21 Summary 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] Expression Ubiquitous expression in testis (RPKM 6.6), ovary (RPKM 5.2) and 25 other tissues See more Orthologs mouse all
PIGUP1, Official Symbol PIGUP1provided by HGNC Official Full Name phosphatidylinositol glycan anchor biosynthesis class U pseudogene 1provided by HGNC Primary source HGNC:HGNC:45158 See related Ensembl:ENSG00000224437 AllianceGenome:HGNC:45158 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
PIGV, Official Symbol PIGVprovided by HGNC Official Full Name phosphatidylinositol glycan anchor biosynthesis class Vprovided by HGNC Primary source HGNC:HGNC:26031 See related Ensembl:ENSG00000060642 MIM:610274; AllianceGenome:HGNC:26031 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as PIG-V; HPMRS1; GPI-MT-II Summary 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] Expression Broad expression in testis (RPKM 19.4), thyroid (RPKM 7.7) and 25 other tissues See more Orthologs mouse all
PIGW, Official Symbol PIGWprovided by HGNC Official Full Name phosphatidylinositol glycan anchor biosynthesis class Wprovided by HGNC Primary source HGNC:HGNC:23213 See related Ensembl:ENSG00000277161 MIM:610275; AllianceGenome:HGNC:23213 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as Gwt1; HPMRS5 Summary 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] Expression Ubiquitous expression in appendix (RPKM 3.2), esophagus (RPKM 2.7) and 25 other tissues See more Orthologs mouse all
PIGX, Official Symbol PIGXprovided by HGNC Official Full Name phosphatidylinositol glycan anchor biosynthesis class Xprovided by HGNC Primary source HGNC:HGNC:26046 See related Ensembl:ENSG00000163964 MIM:610276; AllianceGenome:HGNC:26046 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as PIG-X Summary 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] Expression Ubiquitous expression in brain (RPKM 7.7), prostate (RPKM 7.3) and 25 other tissues See more Orthologs mouse all
PIGY, Official Symbol PIGYprovided by HGNC Official Full Name phosphatidylinositol glycan anchor biosynthesis class Yprovided by HGNC Primary source HGNC:HGNC:28213 See related Ensembl:ENSG00000255072 MIM:610662; AllianceGenome:HGNC:28213 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as PIG-Y; HPMRS6 Summary 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] Expression Ubiquitous expression in adrenal (RPKM 45.6), fat (RPKM 42.6) and 25 other tissues See more Orthologs all
PIGY-DT, Official Symbol PIGY-DTprovided by HGNC Official Full Name PIGY divergent transcriptprovided by HGNC Primary source HGNC:HGNC:54080 See related Ensembl:ENSG00000285122 AllianceGenome:HGNC:54080 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Expression Biased expression in testis (RPKM 2.6), liver (RPKM 2.5) and 12 other tissues See more
PIGZ, Official Symbol PIGZprovided by HGNC Official Full Name phosphatidylinositol glycan anchor biosynthesis class Zprovided by HGNC Primary source HGNC:HGNC:30596 See related Ensembl:ENSG00000119227 MIM:611671; AllianceGenome:HGNC:30596 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as SMP3; PIG-Z; GPI-MT-IV Summary 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] Expression Broad expression in colon (RPKM 5.3), brain (RPKM 1.9) and 20 other tissues See more Orthologs mouse all
PIH1D1, Official Symbol PIH1D1provided by HGNC Official Full Name PIH1 domain containing 1provided by HGNC Primary source HGNC:HGNC:26075 See related Ensembl:ENSG00000104872 MIM:611480; AllianceGenome:HGNC:26075 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as Pih1; MOT48; NOP17; DNAAF14 Summary Enables several functions, including RNA polymerase I core promoter sequence-specific DNA binding activity; enzyme binding activity; and phosphoprotein binding activity. Involved in several processes, including box C/D snoRNP assembly; positive regulation of signal transduction; and regulation of cellular protein metabolic process. Located in cytoplasm and nucleolus. Part of R2TP complex and pre-snoRNP complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in placenta (RPKM 13.7), lymph node (RPKM 13.6) and 25 other tissues See more Orthologs mouse all
PIH1D2, Official Symbol PIH1D2provided by HGNC Official Full Name PIH1 domain containing 2provided by HGNC Primary source HGNC:HGNC:25210 See related Ensembl:ENSG00000150773 AllianceGenome:HGNC:25210 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as DNAAF15 Summary Enables small GTPase binding activity. Predicted to be involved in box C/D snoRNP assembly and rRNA processing. Predicted to be part of R2TP complex and ribonucleoprotein complex. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in testis (RPKM 17.4), heart (RPKM 9.8) and 20 other tissues See more Orthologs mouse all
PIK3AP1, Official Symbol PIK3AP1provided by HGNC Official Full Name phosphoinositide-3-kinase adaptor protein 1provided by HGNC Primary source HGNC:HGNC:30034 See related Ensembl:ENSG00000155629 MIM:607942; AllianceGenome:HGNC:30034 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as BCAP Summary Predicted to enable phosphatidylinositol 3-kinase regulatory subunit binding activity and signaling receptor binding activity. Predicted to be involved in regulation of inflammatory response; regulation of signal transduction; and toll-like receptor signaling pathway. Predicted to be located in cytoplasm and membrane. Predicted to be active in cytosol. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in spleen (RPKM 34.0), lymph node (RPKM 33.6) and 19 other tissues See more Orthologs mouse all
PIK3C2A, Official Symbol PIK3C2Aprovided by HGNC Official Full Name phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alphaprovided by HGNC Primary source HGNC:HGNC:8971 See related Ensembl:ENSG00000011405 MIM:603601; AllianceGenome:HGNC:8971 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as CPK; OCSKD; PI3-K-C2A; PI3K-C2alpha; PI3K-C2-alpha; PI3-K-C2(ALPHA) Summary 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] Expression Ubiquitous expression in thyroid (RPKM 18.0), testis (RPKM 13.1) and 25 other tissues See more Orthologs mouse all
PIK3C2B, Official Symbol PIK3C2Bprovided by HGNC Official Full Name phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 betaprovided by HGNC Primary source HGNC:HGNC:8972 See related Ensembl:ENSG00000133056 MIM:602838; AllianceGenome:HGNC:8972 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as C2-PI3K Summary 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] Expression Ubiquitous expression in lymph node (RPKM 8.8), skin (RPKM 7.4) and 24 other tissues See more Orthologs mouse all
PIK3C2G, Official Symbol PIK3C2Gprovided by HGNC Official Full Name phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 gammaprovided by HGNC Primary source HGNC:HGNC:8973 See related Ensembl:ENSG00000139144 MIM:609001; AllianceGenome:HGNC:8973 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as PI3K-C2GAMMA; PI3K-C2-gamma Summary 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] Expression Biased expression in stomach (RPKM 3.1), skin (RPKM 2.0) and 7 other tissues See more Orthologs mouse all
PIK3C3, Official Symbol PIK3C3provided by HGNC Official Full Name phosphatidylinositol 3-kinase catalytic subunit type 3provided by HGNC Primary source HGNC:HGNC:8974 See related Ensembl:ENSG00000078142 MIM:602609; AllianceGenome:HGNC:8974 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as VPS34; Vps34; hVps34 Summary Enables 1-phosphatidylinositol-3-kinase activity. Involved in early endosome to late endosome transport and regulation of cytokinesis. Acts upstream of or within autophagy and protein lipidation. Located in autolysosome; late endosome; and midbody. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in testis (RPKM 7.2), brain (RPKM 7.0) and 25 other tissues See more Orthologs mouse all
PIK3CA, Official Symbol PIK3CAprovided by HGNC Official Full Name phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alphaprovided by HGNC Primary source HGNC:HGNC:8975 See related Ensembl:ENSG00000121879 MIM:171834; AllianceGenome:HGNC:8975 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as MCM; CCM4; CWS5; MCAP; PI3K; CLAPO; CLOVE; MCMTC; PI3K-alpha; p110-alpha Summary 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] Expression Ubiquitous expression in fat (RPKM 10.3), gall bladder (RPKM 7.8) and 25 other tissues See more Orthologs mouse all
PIK3CB, Official Symbol PIK3CBprovided by HGNC Official Full Name phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit betaprovided by HGNC Primary source HGNC:HGNC:8976 See related Ensembl:ENSG00000051382 MIM:602925; AllianceGenome:HGNC:8976 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as PI3K; PIK3C1; P110BETA; PI3KBETA Summary 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] Expression Ubiquitous expression in thyroid (RPKM 19.2), kidney (RPKM 9.0) and 25 other tissues See more Orthologs mouse all
PIK3CD, Official Symbol PIK3CDprovided by HGNC Official Full Name phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit deltaprovided by HGNC Primary source HGNC:HGNC:8977 See related Ensembl:ENSG00000171608 MIM:602839; AllianceGenome:HGNC:8977 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as APDS; PI3K; IMD14; p110D; IMD14A; IMD14B; ROCHIS; P110DELTA Summary 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] Expression Broad expression in lymph node (RPKM 21.4), bone marrow (RPKM 20.0) and 22 other tissues See more Orthologs mouse all
PIK3CD-AS1, Official Symbol PIK3CD-AS1provided by HGNC Official Full Name PIK3CD antisense RNA 1provided by HGNC Primary source HGNC:HGNC:32346 See related Ensembl:ENSG00000179840 AllianceGenome:HGNC:32346 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as C1orf200 Expression Low expression observed in reference dataset See more
PIK3CD-AS2, Official Symbol PIK3CD-AS2provided by HGNC Official Full Name PIK3CD antisense RNA 2provided by HGNC Primary source HGNC:HGNC:51334 See related Ensembl:ENSG00000231789 AllianceGenome:HGNC:51334 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Expression Broad expression in ovary (RPKM 1.7), thyroid (RPKM 1.6) and 21 other tissues See more
PIK3CDP1, Official Symbol PIK3CDP1provided by HGNC Official Full Name phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta pseudogene 1provided by HGNC Primary source HGNC:HGNC:52629 See related Ensembl:ENSG00000231610 AllianceGenome:HGNC:52629 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
PIK3CG, Official Symbol PIK3CGprovided by HGNC Official Full Name phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gammaprovided by HGNC Primary source HGNC:HGNC:8978 See related Ensembl:ENSG00000105851 MIM:601232; AllianceGenome:HGNC:8978 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as PI3K; PIK3; IMD97; PI3CG; PI3Kgamma; p110gamma; p120-PI3K Summary 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] Expression Broad expression in bone marrow (RPKM 12.4), lymph node (RPKM 9.1) and 18 other tissues See more Orthologs mouse all
PIK3IP1, Official Symbol PIK3IP1provided by HGNC Official Full Name phosphoinositide-3-kinase interacting protein 1provided by HGNC Primary source HGNC:HGNC:24942 See related Ensembl:ENSG00000100100 MIM:619158; AllianceGenome:HGNC:24942 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as HGFL; TrIP; hHGFL(S) Summary Enables phosphatidylinositol 3-kinase catalytic subunit binding activity. Involved in negative regulation of phosphatidylinositol 3-kinase activity and negative regulation of phosphatidylinositol 3-kinase signaling. Predicted to be located in plasma membrane. Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in lymph node (RPKM 60.4), appendix (RPKM 38.3) and 23 other tissues See more Orthologs mouse all
PIK3IP1-DT, Official Symbol PIK3IP1-DTprovided by HGNC Official Full Name PIK3IP1 divergent transcriptprovided by HGNC Primary source HGNC:HGNC:41072 See related Ensembl:ENSG00000228839 AllianceGenome:HGNC:41072 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as PIK3IP1-AS1 Expression Broad expression in testis (RPKM 1.4), lymph node (RPKM 1.4) and 21 other tissues See more
PIK3R1, Official Symbol PIK3R1provided by HGNC Official Full Name phosphoinositide-3-kinase regulatory subunit 1provided by HGNC Primary source HGNC:HGNC:8979 See related Ensembl:ENSG00000145675 MIM:171833; AllianceGenome:HGNC:8979 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as p85; AGM7; GRB1; IMD36; p85alpha; p85-ALPHA Summary Phosphatidylinositol 3-kinase phosphorylates the inositol ring of phosphatidylinositol at the 3-prime position. The enzyme comprises a 110 kD catalytic subunit and a regulatory subunit of either 85, 55, or 50 kD. This gene encodes the 85 kD regulatory subunit. Phosphatidylinositol 3-kinase plays an important role in the metabolic actions of insulin, and a mutation in this gene has been associated with insulin resistance. Alternative splicing of this gene results in four transcript variants encoding different isoforms. [provided by RefSeq, Jun 2011] Expression Ubiquitous expression in fat (RPKM 16.6), brain (RPKM 16.6) and 24 other tissues See more Orthologs mouse all
PIK3R2, Official Symbol PIK3R2provided by HGNC Official Full Name phosphoinositide-3-kinase regulatory subunit 2provided by HGNC Primary source HGNC:HGNC:8980 See related Ensembl:ENSG00000105647 MIM:603157; AllianceGenome:HGNC:8980 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as p85; MPPH; P85B; MPPH1; p85beta; p85-BETA Summary Phosphatidylinositol 3-kinase (PI3K) is a lipid kinase that phosphorylates phosphatidylinositol and similar compounds, creating second messengers important in growth signaling pathways. PI3K functions as a heterodimer of a regulatory and a catalytic subunit. The protein encoded by this gene is a regulatory component of PI3K. Three transcript variants, one protein coding and the other two non-protein coding, have been found for this gene. [provided by RefSeq, Apr 2019] Expression Ubiquitous expression in brain (RPKM 16.0), skin (RPKM 12.1) and 25 other tissues See more Orthologs mouse all
PIK3R3, Official Symbol PIK3R3provided by HGNC Official Full Name phosphoinositide-3-kinase regulatory subunit 3provided by HGNC Primary source HGNC:HGNC:8981 See related Ensembl:ENSG00000117461 MIM:606076; AllianceGenome:HGNC:8981 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as p55; p55PIK; p55-GAMMA Summary Phosphatidylinositol 3-kinase (PI3K) phosphorylates phosphatidylinositol and similar compounds, which then serve as second messengers in growth signaling pathways. PI3K is composed of a catalytic and a regulatory subunit. The protein encoded by this gene represents a regulatory subunit of PI3K. The encoded protein contains two SH2 domains through which it binds activated protein tyrosine kinases to regulate their activity. [provided by RefSeq, Jun 2016] Expression Broad expression in testis (RPKM 19.6), fat (RPKM 8.4) and 20 other tissues See more Orthologs mouse all
PIK3R4, Official Symbol PIK3R4provided by HGNC Official Full Name phosphoinositide-3-kinase regulatory subunit 4provided by HGNC Primary source HGNC:HGNC:8982 See related Ensembl:ENSG00000196455 MIM:602610; AllianceGenome:HGNC:8982 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as p150; VPS15 Summary Predicted to enable protein serine/threonine kinase activity. Involved in positive regulation of phosphatidylinositol 3-kinase activity; receptor catabolic process; and regulation of cytokinesis. Located in late endosome and microtubule cytoskeleton. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in thyroid (RPKM 9.2), testis (RPKM 8.7) and 25 other tissues See more Orthologs mouse all
PIK3R5, Official Symbol PIK3R5provided by HGNC Official Full Name phosphoinositide-3-kinase regulatory subunit 5provided by HGNC Primary source HGNC:HGNC:30035 See related Ensembl:ENSG00000141506 MIM:611317; AllianceGenome:HGNC:30035 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as p101; FOAP-2; P101-PI3K; F730038I15Rik Summary Phosphatidylinositol 3-kinases (PI3Ks) phosphorylate the inositol ring of phosphatidylinositol at the 3-prime position, and play important roles in cell growth, proliferation, differentiation, motility, survival and intracellular trafficking. The PI3Ks are divided into three classes: I, II and III, and only the class I PI3Ks are involved in oncogenesis. This gene encodes the 101 kD regulatory subunit of the class I PI3K gamma complex, which is a dimeric enzyme, consisting of a 110 kD catalytic subunit gamma and a regulatory subunit of either 55, 87 or 101 kD. This protein recruits the catalytic subunit from the cytosol to the plasma membrane through high-affinity interaction with G-beta-gamma proteins. Multiple alternatively spliced transcript variants encoding two distinct isoforms have been found. [provided by RefSeq, Oct 2011] Expression Biased expression in bone marrow (RPKM 25.8), spleen (RPKM 14.1) and 13 other tissues See more Orthologs mouse all
PIK3R6, Official Symbol PIK3R6provided by HGNC Official Full Name phosphoinositide-3-kinase regulatory subunit 6provided by HGNC Primary source HGNC:HGNC:27101 See related Ensembl:ENSG00000276231 MIM:611462; AllianceGenome:HGNC:27101 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as C17orf38; HsT41028; p87PIKAP; p84 PIKAP; p87(PIKAP) Summary Phosphoinositide 3-kinase gamma is a lipid kinase that produces the lipid second messenger phosphatidylinositol 3,4,5-trisphosphate. The kinase is composed of a catalytic subunit and one of several regulatory subunits, and is chiefly activated by G protein-coupled receptors. This gene encodes a regulatory subunit, and is distantly related to the phosphoinositide-3-kinase, regulatory subunit 5 gene which is located adjacent to this gene on chromosome 7. The orthologous protein in the mouse binds to both the catalytic subunit and to G(beta/gamma), and mediates activation of the kinase subunit downstream of G protein-coupled receptors. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014] Expression Broad expression in spleen (RPKM 2.7), appendix (RPKM 1.8) and 19 other tissues See more Orthologs mouse all
PIKFYVE, Official Symbol PIKFYVEprovided by HGNC Official Full Name phosphoinositide kinase, FYVE-type zinc finger containingprovided by HGNC Primary source HGNC:HGNC:23785 See related Ensembl:ENSG00000115020 MIM:609414; AllianceGenome:HGNC:23785 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as CFD; FAB1; HEL37; PIP5K; PIP5K3; ZFYVE29 Summary Phosphorylated derivatives of phosphatidylinositol (PtdIns) regulate cytoskeletal functions, membrane trafficking, and receptor signaling by recruiting protein complexes to cell- and endosomal-membranes. Humans have multiple PtdIns proteins that differ by the degree and position of phosphorylation of the inositol ring. This gene encodes an enzyme (PIKfyve; also known as phosphatidylinositol-3-phosphate 5-kinase type III or PIPKIII) that phosphorylates the D-5 position in PtdIns and phosphatidylinositol-3-phosphate (PtdIns3P) to make PtdIns5P and PtdIns(3,5)biphosphate. The D-5 position also can be phosphorylated by type I PtdIns4P-5-kinases (PIP5Ks) that are encoded by distinct genes and preferentially phosphorylate D-4 phosphorylated PtdIns. In contrast, PIKfyve preferentially phosphorylates D-3 phosphorylated PtdIns. In addition to being a lipid kinase, PIKfyve also has protein kinase activity. PIKfyve regulates endomembrane homeostasis and plays a role in the biogenesis of endosome carrier vesicles from early endosomes. The protein plays a key role in cell entry of ebola virus and SARS-CoV-2 by endocytosis Mutations in this gene cause corneal fleck dystrophy (CFD); an autosomal dominant disorder characterized by numerous small white flecks present in all layers of the corneal stroma. Histologically, these flecks appear to be keratocytes distended with lipid and mucopolysaccharide filled intracytoplasmic vacuoles. [provided by RefSeq, Jul 2021] Annotation information Note: This gene has been reviewed for its involvement in coronavirus biology, and is involved in SARS-CoV-2 infection. Expression Ubiquitous expression in bone marrow (RPKM 9.7), lymph node (RPKM 8.9) and 25 other tissues See more Orthologs mouse all
PILRA, Official Symbol PILRAprovided by HGNC Official Full Name paired immunoglobin like type 2 receptor alphaprovided by HGNC Primary source HGNC:HGNC:20396 See related Ensembl:ENSG00000085514 MIM:605341; AllianceGenome:HGNC:20396 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as FDF03 Summary Cell signaling pathways rely on a dynamic interaction between activating and inhibiting processes. SHP-1-mediated dephosphorylation of protein tyrosine residues is central to the regulation of several cell signaling pathways. Two types of inhibitory receptor superfamily members are immunoreceptor tyrosine-based inhibitory motif (ITIM)-bearing receptors and their non-ITIM-bearing, activating counterparts. Control of cell signaling via SHP-1 is thought to occur through a balance between PILRalpha-mediated inhibition and PILRbeta-mediated activation. These paired immunoglobulin-like receptor genes are located in a tandem head-to-tail orientation on chromosome 7. This particular gene encodes the ITIM-bearing member of the receptor pair, which functions in the inhibitory role. Alternative splicing has been observed at this locus and three variants, each encoding a distinct isoform, are described. [provided by RefSeq, Jul 2008] Expression Broad expression in appendix (RPKM 17.4), spleen (RPKM 11.8) and 23 other tissues See more Orthologs mouse all
PILRB, Official Symbol PILRBprovided by HGNC Official Full Name paired immunoglobin like type 2 receptor betaprovided by HGNC Primary source HGNC:HGNC:18297 See related Ensembl:ENSG00000121716 MIM:605342; AllianceGenome:HGNC:18297 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as FDFACT1; FDFACT2 Summary The paired immunoglobin-like type 2 receptors consist of highly related activating and inhibitory receptors that are involved in the regulation of many aspects of the immune system. The paired immunoglobulin-like receptor genes are located in a tandem head-to-tail orientation on chromosome 7. This gene encodes the activating member of the receptor pair and contains a truncated cytoplasmic tail relative to its inhibitory counterpart (PILRA), that has a long cytoplasmic tail with immunoreceptor tyrosine-based inhibitory (ITIM) motifs. This gene is thought to have arisen from a duplication of the inhibitory PILRA gene and evolved to acquire its activating function. [provided by RefSeq, Jun 2013] Expression Ubiquitous expression in testis (RPKM 49.6), spleen (RPKM 35.1) and 25 other tissues See more Orthologs all
PIM1, Official Symbol PIM1provided by HGNC Official Full Name Pim-1 proto-oncogene, serine/threonine kinaseprovided by HGNC Primary source HGNC:HGNC:8986 See related Ensembl:ENSG00000137193 MIM:164960; AllianceGenome:HGNC:8986 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as PIM Summary The protein encoded by this gene belongs to the Ser/Thr protein kinase family, and PIM subfamily. This gene is expressed primarily in B-lymphoid and myeloid cell lines, and is overexpressed in hematopoietic malignancies and in prostate cancer. It plays a role in signal transduction in blood cells, contributing to both cell proliferation and survival, and thus provides a selective advantage in tumorigenesis. Both the human and orthologous mouse genes have been reported to encode two isoforms (with preferential cellular localization) resulting from the use of alternative in-frame translation initiation codons, the upstream non-AUG (CUG) and downstream AUG codons (PMIDs:16186805, 1825810).[provided by RefSeq, Aug 2011] Expression Broad expression in bone marrow (RPKM 89.3), esophagus (RPKM 60.8) and 21 other tissues See more Orthologs mouse all
PIM2, Official Symbol PIM2provided by HGNC Official Full Name Pim-2 proto-oncogene, serine/threonine kinaseprovided by HGNC Primary source HGNC:HGNC:8987 See related Ensembl:ENSG00000102096 MIM:300295; AllianceGenome:HGNC:8987 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary This gene encodes a protooncogene that acts as a serine/threonine protein kinase. Studies determined the encoded protein functions to prevent apoptosis and to promote cell survival.[provided by RefSeq, Nov 2009] Expression Broad expression in lymph node (RPKM 45.7), appendix (RPKM 40.1) and 20 other tissues See more Orthologs mouse all
PIM3, Official Symbol PIM3provided by HGNC Official Full Name Pim-3 proto-oncogene, serine/threonine kinaseprovided by HGNC Primary source HGNC:HGNC:19310 See related Ensembl:ENSG00000198355 MIM:610580; AllianceGenome:HGNC:19310 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as pim-3 Summary The protein encoded by this gene belongs to the Ser/Thr protein kinase family, and PIM subfamily. This gene is overexpressed in hematological and epithelial tumors and is associated with MYC coexpression. It plays a role in the regulation of signal transduction cascades, contributing to both cell proliferation and survival, and provides a selective advantage in tumorigenesis. [provided by RefSeq, Jun 2012] Expression Ubiquitous expression in bone marrow (RPKM 36.0), stomach (RPKM 21.6) and 25 other tissues See more Orthologs mouse all
PIMREG, Official Symbol PIMREGprovided by HGNC Official Full Name PICALM interacting mitotic regulatorprovided by HGNC Primary source HGNC:HGNC:25483 See related Ensembl:ENSG00000129195 MIM:617611; AllianceGenome:HGNC:25483 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as CATS; RCS1; FAM64A Summary Predicted to be involved in cell division. Located in nucleolus and nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in spleen (RPKM 1.3), small intestine (RPKM 0.7) and 19 other tissues See more Orthologs mouse all
PIN1, Official Symbol PIN1provided by HGNC Official Full Name peptidylprolyl cis/trans isomerase, NIMA-interacting 1provided by HGNC Primary source HGNC:HGNC:8988 See related Ensembl:ENSG00000127445 MIM:601052; AllianceGenome:HGNC:8988 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as DOD; UBL5 Summary Peptidyl-prolyl cis/trans isomerases (PPIases) catalyze the cis/trans isomerization of peptidyl-prolyl peptide bonds. This gene encodes one of the PPIases, which specifically binds to phosphorylated ser/thr-pro motifs to catalytically regulate the post-phosphorylation conformation of its substrates. The conformational regulation catalyzed by this PPIase has a profound impact on key proteins involved in the regulation of cell growth, genotoxic and other stress responses, the immune response, induction and maintenance of pluripotency, germ cell development, neuronal differentiation, and survival. This enzyme also plays a key role in the pathogenesis of Alzheimer's disease and many cancers. Multiple alternatively spliced transcript variants have been found for this gene.[provided by RefSeq, Jun 2011] Expression Ubiquitous expression in brain (RPKM 30.9), testis (RPKM 25.2) and 25 other tissues See more Orthologs mouse all
PIN1-DT, Official Symbol PIN1-DTprovided by HGNC Official Full Name PIN1 divergent transcriptprovided by HGNC Primary source HGNC:HGNC:55303 See related Ensembl:ENSG00000267289 AllianceGenome:HGNC:55303 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Expression Low expression observed in reference dataset See more
PIN1P1, Official Symbol PIN1P1provided by HGNC Official Full Name peptidylprolyl cis/trans isomerase, NIMA-interacting 1 pseudogene 1provided by HGNC Primary source HGNC:HGNC:8989 See related Ensembl:ENSG00000229359 MIM:602051; AllianceGenome:HGNC:8989 Gene type pseudo RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as PIN1L Summary Predicted to enable peptidyl-prolyl cis-trans isomerase activity. Predicted to be involved in protein peptidyl-prolyl isomerization. Predicted to be active in cytosol and nucleus. [provided by Alliance of Genome Resources, Apr 2022]