psui3905/ncbi_genes_summary huggingface dataset:
PHTF1, Official Symbol PHTF1provided by HGNC Official Full Name putative homeodomain transcription factor 1provided by HGNC Primary source HGNC:HGNC:8939 See related Ensembl:ENSG00000116793 MIM:604950; AllianceGenome:HGNC:8939 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 PHTF Summary Predicted to be located in cis-Golgi network and endoplasmic reticulum membrane. Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in testis (RPKM 15.3), gall bladder (RPKM 3.5) and 22 other tissues See more Orthologs mouse all
PHTF2, Official Symbol PHTF2provided by HGNC Official Full Name putative homeodomain transcription factor 2provided by HGNC Primary source HGNC:HGNC:13411 See related Ensembl:ENSG00000006576 MIM:616785; AllianceGenome:HGNC:13411 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 Summary Located in endoplasmic reticulum. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in lymph node (RPKM 6.3), appendix (RPKM 5.5) and 25 other tissues See more Orthologs mouse all
PHYH, Official Symbol PHYHprovided by HGNC Official Full Name phytanoyl-CoA 2-hydroxylaseprovided by HGNC Primary source HGNC:HGNC:8940 See related Ensembl:ENSG00000107537 MIM:602026; AllianceGenome:HGNC:8940 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 RD; LN1; PAHX; LNAP1; PHYH1 Summary This gene is a member of the PhyH family and encodes a peroxisomal protein that is involved in the alpha-oxidation of 3-methyl branched fatty acids. Specifically, this protein converts phytanoyl-CoA to 2-hydroxyphytanoyl-CoA. Mutations in this gene have been associated with Refsum disease (RD) and deficient protein activity has been associated with Zellweger syndrome and rhizomelic chondrodysplasia punctata. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008] Expression Broad expression in liver (RPKM 137.6), kidney (RPKM 65.7) and 17 other tissues See more Orthologs mouse all
PHYHD1, Official Symbol PHYHD1provided by HGNC Official Full Name phytanoyl-CoA dioxygenase domain containing 1provided by HGNC Primary source HGNC:HGNC:23396 See related Ensembl:ENSG00000175287 MIM:620042; AllianceGenome:HGNC:23396 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 Summary Enables 2-oxoglutarate-dependent dioxygenase activity. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in kidney (RPKM 11.6), thyroid (RPKM 9.8) and 23 other tissues See more Orthologs mouse all
PHYHIP, Official Symbol PHYHIPprovided by HGNC Official Full Name phytanoyl-CoA 2-hydroxylase interacting proteinprovided by HGNC Primary source HGNC:HGNC:16865 See related Ensembl:ENSG00000168490 MIM:608511; AllianceGenome:HGNC:16865 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 PAHX-AP; PAHXAP1; DYRK1AP3 Summary Enables protein tyrosine kinase binding activity. Involved in protein localization. Located in cytoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in brain (RPKM 50.0), skin (RPKM 16.9) and 4 other tissues See more Orthologs mouse all
PHYHIPL, Official Symbol PHYHIPLprovided by HGNC Official Full Name phytanoyl-CoA 2-hydroxylase interacting protein likeprovided by HGNC Primary source HGNC:HGNC:29378 See related Ensembl:ENSG00000165443 AllianceGenome:HGNC:29378 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 Summary Located in cytoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in brain (RPKM 57.9), adrenal (RPKM 16.3) and 8 other tissues See more Orthologs mouse all
PHYKPL, Official Symbol PHYKPLprovided by HGNC Official Full Name 5-phosphohydroxy-L-lysine phospho-lyaseprovided by HGNC Primary source HGNC:HGNC:28249 See related Ensembl:ENSG00000175309 MIM:614683; AllianceGenome:HGNC:28249 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 PHLU; AGXT2L2 Summary This is a nuclear gene encoding a mitochondrial enzyme that catalyzes the conversion of 5-phosphonooxy-L-lysine to ammonia, inorganic phosphate, and 2-aminoadipate semialdehyde. Mutations in this gene may cause phosphohydroxylysinuria. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2013] Expression Ubiquitous expression in small intestine (RPKM 10.2), spleen (RPKM 9.1) and 25 other tissues See more Orthologs mouse all
PI15, Official Symbol PI15provided by HGNC Official Full Name peptidase inhibitor 15provided by HGNC Primary source HGNC:HGNC:8946 See related Ensembl:ENSG00000137558 MIM:607076; AllianceGenome:HGNC:8946 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 P24TI; P25TI; CRISP8 Summary This gene encodes a trypsin inhibitor. The protein shares similarity to insect venom allergens, mammalian testis-specific proteins and plant pathogenesis-related proteins. It is frequently expressed in human neuroblastoma and glioblastoma cell lines, and thus may play a role in the central nervous system. [provided by RefSeq, Jul 2008] Expression Biased expression in appendix (RPKM 36.9), prostate (RPKM 13.1) and 3 other tissues See more Orthologs mouse all
PI16, Official Symbol PI16provided by HGNC Official Full Name peptidase inhibitor 16provided by HGNC Primary source HGNC:HGNC:21245 See related Ensembl:ENSG00000164530 AllianceGenome:HGNC:21245 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 CD364; PSPBP; CRISP9; MSMBBP Summary Predicted to enable peptidase inhibitor activity. Predicted to be involved in negative regulation of peptidase activity. Predicted to act upstream of or within negative regulation of cell growth involved in cardiac muscle cell development. Predicted to be active in extracellular space. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in urinary bladder (RPKM 35.7), heart (RPKM 28.3) and 12 other tissues See more Orthologs mouse all
PI3, Official Symbol PI3provided by HGNC Official Full Name peptidase inhibitor 3provided by HGNC Primary source HGNC:HGNC:8947 See related Ensembl:ENSG00000124102 MIM:182257; AllianceGenome:HGNC:8947 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 ESI; WAP3; SKALP; WFDC14; cementoin Summary This gene encodes an elastase-specific inhibitor that functions as an antimicrobial peptide against Gram-positive and Gram-negative bacteria, and fungal pathogens. The protein contains a WAP-type four-disulfide core (WFDC) domain, and is thus a member of the WFDC domain family. Most WFDC gene members are localized to chromosome 20q12-q13 in two clusters: centromeric and telomeric. This gene belongs to the centromeric cluster. Expression of this gene is upgulated by bacterial lipopolysaccharides and cytokines. [provided by RefSeq, Oct 2014] Expression Biased expression in esophagus (RPKM 578.7), colon (RPKM 50.5) and 1 other tissue See more Orthologs all
PI4K2A, Official Symbol PI4K2Aprovided by HGNC Official Full Name phosphatidylinositol 4-kinase type 2 alphaprovided by HGNC Primary source HGNC:HGNC:30031 See related Ensembl:ENSG00000155252 MIM:609763; AllianceGenome:HGNC:30031 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 PI4KII; PIK42A Summary 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] Expression Ubiquitous expression in placenta (RPKM 11.9), gall bladder (RPKM 10.1) and 25 other tissues See more Orthologs mouse all
PI4K2B, Official Symbol PI4K2Bprovided by HGNC Official Full Name phosphatidylinositol 4-kinase type 2 betaprovided by HGNC Primary source HGNC:HGNC:18215 See related Ensembl:ENSG00000038210 MIM:612101; AllianceGenome:HGNC:18215 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 PIK42B; PI4KIIB Summary 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] Expression Ubiquitous expression in duodenum (RPKM 18.2), small intestine (RPKM 15.4) and 25 other tissues See more Orthologs mouse all
PI4KA, Official Symbol PI4KAprovided by HGNC Official Full Name phosphatidylinositol 4-kinase alphaprovided by HGNC Primary source HGNC:HGNC:8983 See related Ensembl:ENSG00000241973 MIM:600286; AllianceGenome:HGNC:8983 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 SPG84; GIDID2; PIK4CA; PMGYCHA; pi4K230; PI4K-ALPHA Summary 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] Expression Ubiquitous expression in brain (RPKM 52.3), testis (RPKM 23.0) and 24 other tissues See more Orthologs mouse all
PI4KAP2, Official Symbol PI4KAP2provided by HGNC Official Full Name phosphatidylinositol 4-kinase alpha pseudogene 2provided by HGNC Primary source HGNC:HGNC:33577 See related Ensembl:ENSG00000183506 AllianceGenome:HGNC:33577 Gene type pseudo RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary Predicted to enable 1-phosphatidylinositol 4-kinase activity. Predicted to be involved in phosphatidylinositol phosphate biosynthetic process and phosphatidylinositol-mediated signaling. Predicted to be active in cytoplasm and plasma membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in brain (RPKM 25.3), placenta (RPKM 22.7) and 25 other tissues See more
PI4KB, Official Symbol PI4KBprovided by HGNC Official Full Name phosphatidylinositol 4-kinase betaprovided by HGNC Primary source HGNC:HGNC:8984 See related Ensembl:ENSG00000143393 MIM:602758; AllianceGenome:HGNC:8984 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 NPIK; DFNA87; PI4K92; PIK4CB; PI4KIII; PI4KBETA; PI4K-BETA; PI4KIIIBETA Summary Enables 1-phosphatidylinositol 4-kinase activity and 14-3-3 protein binding activity. Predicted to be involved in phosphatidylinositol phosphate biosynthetic process and phosphatidylinositol-mediated signaling. Located in Golgi membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in thyroid (RPKM 18.9), testis (RPKM 17.6) and 25 other tissues See more Orthologs mouse all
PIANP, Official Symbol PIANPprovided by HGNC Official Full Name PILR alpha associated neural proteinprovided by HGNC Primary source HGNC:HGNC:25338 See related Ensembl:ENSG00000139200 MIM:616065; AllianceGenome:HGNC:25338 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 PANP; LEDA1; leda-1; C12orf53 Summary This gene encodes a ligand for the paired immunoglobin-like type 2 receptor alpha, and so may be involved in immune regulation. Alternate splicing results in multiple transcript variants encoding different proteins. [provided by RefSeq, Sep 2011] Expression Biased expression in brain (RPKM 10.4), endometrium (RPKM 2.8) and 3 other tissues See more Orthologs mouse all
PIAS1, Official Symbol PIAS1provided by HGNC Official Full Name protein inhibitor of activated STAT 1provided by HGNC Primary source HGNC:HGNC:2752 See related Ensembl:ENSG00000033800 MIM:603566; AllianceGenome:HGNC:2752 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 GBP; ZMIZ3; DDXBP1; GU/RH-II Summary This gene encodes a member of the protein inhibitor of activated STAT (PIAS) family. PIAS proteins function as SUMO E3 ligases and play important roles in many cellular processes by mediating the sumoylation of target proteins. This protein plays a central role as a transcriptional coregulator of numerous cellular pathways includign the STAT1 and nuclear factor kappaB pathways. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016] Expression Ubiquitous expression in thyroid (RPKM 10.0), ovary (RPKM 9.9) and 25 other tissues See more Orthologs mouse all
PIAS2, Official Symbol PIAS2provided by HGNC Official Full Name protein inhibitor of activated STAT 2provided by HGNC Primary source HGNC:HGNC:17311 See related Ensembl:ENSG00000078043 MIM:603567; AllianceGenome:HGNC:17311 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 DIP; MIZ1; SIZ2; ARIP3; PIASX; ZMIZ4 Summary This gene encodes a member of the protein inhibitor of activated STAT family, which function as SUMO E3 ligases and play important roles in many cellular processes by mediating the sumoylation of target proteins. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. Isoforms of the encoded protein enhance the sumoylation of specific target proteins including the p53 tumor suppressor protein, c-Jun, and the androgen receptor. A pseudogene of this gene is located on the short arm of chromosome 4. The symbol MIZ1 has also been associated with ZBTB17 which is a different gene located on chromosome 1. [provided by RefSeq, Aug 2017] Expression Broad expression in testis (RPKM 8.9), thyroid (RPKM 2.1) and 23 other tissues See more Orthologs mouse all
PIAS3, Official Symbol PIAS3provided by HGNC Official Full Name protein inhibitor of activated STAT 3provided by HGNC Primary source HGNC:HGNC:16861 See related Ensembl:ENSG00000131788 MIM:605987; AllianceGenome:HGNC:16861 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 ZMIZ5 Summary This gene encodes a member of the PIAS [protein inhibitor of activated STAT (signal transducer and activator of transcription)] family of transcriptional modulators. The protein functions as a SUMO (small ubiquitin-like modifier)-E3 ligase which catalyzes the covalent attachment of a SUMO protein to specific target substrates. It directly binds to several transcription factors and either blocks or enhances their activity. Alternatively spliced transcript variants of this gene have been identified, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in endometrium (RPKM 17.3), skin (RPKM 16.3) and 25 other tissues See more Orthologs mouse all
PIAS4, Official Symbol PIAS4provided by HGNC Official Full Name protein inhibitor of activated STAT 4provided by HGNC Primary source HGNC:HGNC:17002 See related Ensembl:ENSG00000105229 MIM:605989; AllianceGenome:HGNC:17002 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 PIASY; Piasg; ZMIZ6; PIAS-gamma Summary Enables SUMO ligase activity and ubiquitin protein ligase binding activity. Involved in negative regulation of transcription, DNA-templated; positive regulation of protein sumoylation; and protein sumoylation. Located in cytoplasm and nucleus. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in testis (RPKM 14.8), spleen (RPKM 3.8) and 25 other tissues See more Orthologs mouse all
PIBF1, Official Symbol PIBF1provided by HGNC Official Full Name progesterone immunomodulatory binding factor 1provided by HGNC Primary source HGNC:HGNC:23352 See related Ensembl:ENSG00000083535 MIM:607532; AllianceGenome:HGNC:23352 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 PIBF; CEP90; JBTS33; C13orf24 Summary This gene encodes a protein that is induced by the steroid hormone progesterone and plays a role in the maintenance of pregnancy. The encoded protein regulates multiple facets of the immune system to promote normal pregnancy including cytokine synthesis, natural killer (NK) cell activity, and arachidonic acid metabolism. Low serum levels of this protein have been associated with spontaneous pre-term labor in humans. This protein may promote the proliferation, migration and invasion of glioma. [provided by RefSeq, Mar 2017] Expression Ubiquitous expression in thyroid (RPKM 9.0), testis (RPKM 8.7) and 25 other tissues See more Orthologs mouse all
PICALM, Official Symbol PICALMprovided by HGNC Official Full Name phosphatidylinositol binding clathrin assembly proteinprovided by HGNC Primary source HGNC:HGNC:15514 See related Ensembl:ENSG00000073921 MIM:603025; AllianceGenome:HGNC:15514 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 LAP; CALM; CLTH Summary 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] Expression Ubiquitous expression in fat (RPKM 64.4), appendix (RPKM 52.9) and 25 other tissues See more Orthologs mouse all
PICART1, Official Symbol PICART1provided by HGNC Official Full Name p53 inducible cancer associated RNA transcript 1provided by HGNC Primary source HGNC:HGNC:27576 See related Ensembl:ENSG00000246640 AllianceGenome:HGNC:27576 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
PICK1, Official Symbol PICK1provided by HGNC Official Full Name protein interacting with PRKCA 1provided by HGNC Primary source HGNC:HGNC:9394 See related Ensembl:ENSG00000100151 MIM:605926; AllianceGenome:HGNC:9394 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 PICK; PRKCABP Summary The protein encoded by this gene contains a PDZ domain, through which it interacts with protein kinase C, alpha (PRKCA). This protein may function as an adaptor that binds to and organizes the subcellular localization of a variety of membrane proteins. It has been shown to interact with multiple glutamate receptor subtypes, monoamine plasma membrane transporters, as well as non-voltage gated sodium channels, and may target PRKCA to these membrane proteins and thus regulate their distribution and function. This protein has also been found to act as an anchoring protein that specifically targets PRKCA to mitochondria in a ligand-specific manner. Three transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in prostate (RPKM 10.0), testis (RPKM 8.6) and 25 other tissues See more Orthologs mouse all
PICSAR, Official Symbol PICSARprovided by HGNC Official Full Name P38 inhibited cutaneous squamous cell carcinoma associated lincRNAprovided by HGNC Primary source HGNC:HGNC:19725 See related Ensembl:ENSG00000275874 MIM:617191; AllianceGenome:HGNC:19725 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 NLC1C; NLC1-C; PRED74; C21orf113; LINC00162; NCRNA00162 Expression Biased expression in testis (RPKM 3.3), skin (RPKM 1.4) and 1 other tissue See more
PID1, Official Symbol PID1provided by HGNC Official Full Name phosphotyrosine interaction domain containing 1provided by HGNC Primary source HGNC:HGNC:26084 See related Ensembl:ENSG00000153823 MIM:612930; AllianceGenome:HGNC:26084 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 PCLI1; NYGGF4; P-CLI1; HMFN2073 Summary Involved in several processes, including mitochondrion morphogenesis; negative regulation of phosphate metabolic process; and positive regulation of macromolecule metabolic process. Located in cytoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in brain (RPKM 7.9), liver (RPKM 5.4) and 24 other tissues See more Orthologs mouse all
PIDD1, Official Symbol PIDD1provided by HGNC Official Full Name p53-induced death domain protein 1provided by HGNC Primary source HGNC:HGNC:16491 See related Ensembl:ENSG00000177595 MIM:605247; AllianceGenome:HGNC:16491 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 LRDD; PIDD; MRT75 Summary The protein encoded by this gene contains a leucine-rich repeat and a death domain. This protein has been shown to interact with other death domain proteins, such as Fas (TNFRSF6)-associated via death domain (FADD) and MAP-kinase activating death domain-containing protein (MADD), and thus may function as an adaptor protein in cell death-related signaling processes. The expression of the mouse counterpart of this gene has been found to be positively regulated by the tumor suppressor p53 and to induce cell apoptosis in response to DNA damage, which suggests a role for this gene as an effector of p53-dependent apoptosis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2010] Expression Ubiquitous expression in testis (RPKM 3.7), spleen (RPKM 3.6) and 25 other tissues See more Orthologs mouse all
PIEZO1, Official Symbol PIEZO1provided by HGNC Official Full Name piezo type mechanosensitive ion channel component 1provided by HGNC Primary source HGNC:HGNC:28993 See related Ensembl:ENSG00000103335 MIM:611184; AllianceGenome:HGNC:28993 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 ER; DHS; Mib; LMPH3; FAM38A; LMPHM6 Summary The protein encoded by this gene is a mechanically-activated ion channel that links mechanical forces to biological signals. The encoded protein contains 36 transmembrane domains and functions as a homotetramer. Defects in this gene have been associated with dehydrated hereditary stomatocytosis. [provided by RefSeq, Jul 2015] Expression Ubiquitous expression in fat (RPKM 30.4), lung (RPKM 14.8) and 24 other tissues See more Orthologs mouse all
PIEZO1P1, Official Symbol PIEZO1P1provided by HGNC Official Full Name piezo type mechanosensitive ion channel component 1 pseudogene 1provided by HGNC Primary source HGNC:HGNC:16214 See related Ensembl:ENSG00000233686 AllianceGenome:HGNC:16214 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as FAM38CP; C20orf83; bA164D18.1
PIEZO1P2, Official Symbol PIEZO1P2provided by HGNC Official Full Name piezo type mechanosensitive ion channel component 1 pseudogene 2provided by HGNC Primary source HGNC:HGNC:42861 See related AllianceGenome:HGNC:42861 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
PIEZO2, Official Symbol PIEZO2provided by HGNC Official Full Name piezo type mechanosensitive ion channel component 2provided by HGNC Primary source HGNC:HGNC:26270 See related Ensembl:ENSG00000154864 MIM:613629; AllianceGenome:HGNC:26270 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 DA3; DA5; MWKS; DAIPT; FAM38B; HsT748; HsT771; FAM38B2; C18orf30; C18orf58 Summary The protein encoded by this gene contains more than thirty transmembrane domains and likely functions as part of mechanically-activated (MA) cation channels. These channels serve to connect mechanical forces to biological signals. The encoded protein quickly adapts MA currents in somatosensory neurons. Defects in this gene are a cause of type 5 distal arthrogryposis. Several alternatively spliced transcript variants of this gene have been described, but their full-length nature is not known. [provided by RefSeq, Feb 2014] Expression Broad expression in lung (RPKM 2.7), gall bladder (RPKM 2.6) and 20 other tissues See more Orthologs mouse all
PIF1, Official Symbol PIF1provided by HGNC Official Full Name PIF1 5'-to-3' DNA helicaseprovided by HGNC Primary source HGNC:HGNC:26220 See related Ensembl:ENSG00000140451 MIM:610953; AllianceGenome:HGNC:26220 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 PIF; C15orf20 Summary This gene encodes a DNA-dependent adenosine triphosphate (ATP)-metabolizing enzyme that functions as a 5' to 3' DNA helicase. The encoded protein can resolve G-quadruplex structures and RNA-DNA hybrids at the ends of chromosomes. It also prevents telomere elongation by inhibiting the actions of telomerase. Alternative splicing and the use of alternative start codons results in multiple isoforms that are differentially localized to either the mitochondria or the nucleus. [provided by RefSeq, Nov 2013] Expression Broad expression in lymph node (RPKM 2.4), appendix (RPKM 1.6) and 19 other tissues See more Orthologs mouse all
PIGA, Official Symbol PIGAprovided by HGNC Official Full Name phosphatidylinositol glycan anchor biosynthesis class Aprovided by HGNC Primary source HGNC:HGNC:8957 See related Ensembl:ENSG00000165195 MIM:311770; AllianceGenome:HGNC:8957 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 GPI3; PNH1; PIG-A; MCAHS2; NEDEPH Summary 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] Expression Ubiquitous expression in bone marrow (RPKM 9.8), urinary bladder (RPKM 3.0) and 24 other tissues See more Orthologs mouse all
PIGAP1, Official Symbol PIGAP1provided by HGNC Official Full Name phosphatidylinositol glycan anchor biosynthesis class A pseudogene 1provided by HGNC Primary source HGNC:HGNC:8958 See related AllianceGenome:HGNC:8958 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as PIG-A-II
PIGB, Official Symbol PIGBprovided by HGNC Official Full Name phosphatidylinositol glycan anchor biosynthesis class Bprovided by HGNC Primary source HGNC:HGNC:8959 See related Ensembl:ENSG00000069943 MIM:604122; AllianceGenome:HGNC:8959 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 DEE80; PIG-B; EIEE80; GPI-MT-III Summary 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] Expression Ubiquitous expression in thyroid (RPKM 8.6), prostate (RPKM 5.8) and 25 other tissues See more Orthologs mouse all
PIGBOS1, Official Symbol PIGBOS1provided by HGNC Official Full Name PIGB opposite strand 1provided by HGNC Primary source HGNC:HGNC:50696 See related Ensembl:ENSG00000225973 MIM:618809; AllianceGenome:HGNC:50696 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 HP06981 Summary Involved in regulation of endoplasmic reticulum unfolded protein response. Is integral component of mitochondrial outer membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in fat (RPKM 5.3), thyroid (RPKM 5.2) and 25 other tissues See more Orthologs mouse all
PIGC, Official Symbol PIGCprovided by HGNC Official Full Name phosphatidylinositol glycan anchor biosynthesis class Cprovided by HGNC Primary source HGNC:HGNC:8960 See related Ensembl:ENSG00000135845 MIM:601730; AllianceGenome:HGNC:8960 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 GPI2; MRT62; GPIBD16 Summary 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] Expression Ubiquitous expression in gall bladder (RPKM 12.5), skin (RPKM 12.3) and 25 other tissues See more Orthologs mouse all
PIGCP2, Official Symbol PIGCP2provided by HGNC Official Full Name phosphatidylinositol glycan anchor biosynthesis class C pseudogene 2provided by HGNC Primary source HGNC:HGNC:45149 See related AllianceGenome:HGNC:45149 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
PIGF, Official Symbol PIGFprovided by HGNC Official Full Name phosphatidylinositol glycan anchor biosynthesis class Fprovided by HGNC Primary source HGNC:HGNC:8962 See related Ensembl:ENSG00000151665 MIM:600153; AllianceGenome:HGNC:8962 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 OORS Summary 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] Annotation information Note: PGF (Gene ID: 5228) and PIGF (Gene ID: 5281) share the PIGF symbol/alias in common. PIGF is a widely used alternative gene symbol for placental growth factor (PGF), which can be confused with the official symbol for phosphatidylinositol glycan anchor biosynthesis class F (PIGF). [06 Jul 2018] Expression Ubiquitous expression in fat (RPKM 42.1), heart (RPKM 35.0) and 25 other tissues See more Orthologs mouse all
PIGFP1, Official Symbol PIGFP1provided by HGNC Official Full Name phosphatidylinositol glycan anchor biosynthesis class F pseudogene 1provided by HGNC Primary source HGNC:HGNC:8963 See related AllianceGenome:HGNC:8963 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
PIGFP2, Official Symbol PIGFP2provided by HGNC Official Full Name phosphatidylinositol glycan anchor biosynthesis class F pseudogene 2provided by HGNC Primary source HGNC:HGNC:45150 See related AllianceGenome:HGNC:45150 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
PIGFP3, Official Symbol PIGFP3provided by HGNC Official Full Name phosphatidylinositol glycan anchor biosynthesis class F pseudogene 3provided by HGNC Primary source HGNC:HGNC:45151 See related Ensembl:ENSG00000227592 AllianceGenome:HGNC:45151 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
PIGG, Official Symbol PIGGprovided by HGNC Official Full Name phosphatidylinositol glycan anchor biosynthesis class Gprovided by HGNC Primary source HGNC:HGNC:25985 See related Ensembl:ENSG00000174227 MIM:616918; AllianceGenome:HGNC:25985 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 EMM; GPI7; LAS21; MRT53; NEDHSCA; PRO4405; RLGS1930 Summary 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] Expression Ubiquitous expression in skin (RPKM 5.1), thyroid (RPKM 4.0) and 25 other tissues See more Orthologs mouse all
PIGH, Official Symbol PIGHprovided by HGNC Official Full Name phosphatidylinositol glycan anchor biosynthesis class Hprovided by HGNC Primary source HGNC:HGNC:8964 See related Ensembl:ENSG00000100564 MIM:600154; AllianceGenome:HGNC:8964 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 GPI-H Summary 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] Expression Ubiquitous expression in thyroid (RPKM 16.9), prostate (RPKM 14.4) and 25 other tissues See more Orthologs mouse all
PIGHP1, Official Symbol PIGHP1provided by HGNC Official Full Name phosphatidylinositol glycan anchor biosynthesis class H pseudogene 1provided by HGNC Primary source HGNC:HGNC:45152 See related AllianceGenome:HGNC:45152 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
PIGK, Official Symbol PIGKprovided by HGNC Official Full Name phosphatidylinositol glycan anchor biosynthesis class Kprovided by HGNC Primary source HGNC:HGNC:8965 See related Ensembl:ENSG00000142892 MIM:605087; AllianceGenome:HGNC:8965 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 GPI8; NEDHCAS Summary 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] Expression Ubiquitous expression in thyroid (RPKM 12.4), adrenal (RPKM 9.0) and 25 other tissues See more Orthologs mouse all
PIGL, Official Symbol PIGLprovided by HGNC Official Full Name phosphatidylinositol glycan anchor biosynthesis class Lprovided by HGNC Primary source HGNC:HGNC:8966 See related Ensembl:ENSG00000108474 MIM:605947; AllianceGenome:HGNC:8966 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 CHIME Summary 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] Expression Ubiquitous expression in duodenum (RPKM 4.7), skin (RPKM 4.2) and 25 other tissues See more Orthologs mouse all
PIGM, Official Symbol PIGMprovided by HGNC Official Full Name phosphatidylinositol glycan anchor biosynthesis class Mprovided by HGNC Primary source HGNC:HGNC:18858 See related Ensembl:ENSG00000143315 MIM:610273; AllianceGenome:HGNC:18858 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 GPI-MT-I Summary 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] Orthologs mouse all
PIGN, Official Symbol PIGNprovided by HGNC Official Full Name phosphatidylinositol glycan anchor biosynthesis class Nprovided by HGNC Primary source HGNC:HGNC:8967 See related Ensembl:ENSG00000197563 MIM:606097; AllianceGenome:HGNC:8967 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 MCD4; MDC4; MCAHS; PIG-N; MCAHS1 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 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] Expression Ubiquitous expression in esophagus (RPKM 8.5), thyroid (RPKM 7.2) and 25 other tissues See more Orthologs mouse all
PIGO, Official Symbol PIGOprovided by HGNC Official Full Name phosphatidylinositol glycan anchor biosynthesis class Oprovided by HGNC Primary source HGNC:HGNC:23215 See related Ensembl:ENSG00000165282 MIM:614730; AllianceGenome:HGNC:23215 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 HPMRS2 Summary 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] Expression Ubiquitous expression in thyroid (RPKM 6.9), testis (RPKM 4.4) and 25 other tissues See more Orthologs mouse all
PIGP, Official Symbol PIGPprovided by HGNC Official Full Name phosphatidylinositol glycan anchor biosynthesis class Pprovided by HGNC Primary source HGNC:HGNC:3046 See related Ensembl:ENSG00000185808 MIM:605938; AllianceGenome:HGNC:3046 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 DCRC; DSRC; DEE55; DSCR5; PIG-P; DCRC-S; EIEE55 Summary 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] Expression Ubiquitous expression in fat (RPKM 11.1), adrenal (RPKM 10.6) and 25 other tissues See more Orthologs mouse all
PIGPP2, Official Symbol PIGPP2provided by HGNC Official Full Name phosphatidylinositol glycan anchor biosynthesis class P pseudogene 2provided by HGNC Primary source HGNC:HGNC:45154 See related AllianceGenome:HGNC:45154 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo