psui3905/ncbi_genes_summary huggingface dataset:
PIN4, Official Symbol PIN4provided by HGNC Official Full Name peptidylprolyl cis/trans isomerase, NIMA-interacting 4provided by HGNC Primary source HGNC:HGNC:8992 See related Ensembl:ENSG00000102309 MIM:300252; AllianceGenome:HGNC:8992 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 EPVH; PAR14; PAR17; hEPVH; hPar14; hPar17 Summary This gene encodes a member of the parvulin subfamily of the peptidyl-prolyl cis/trans isomerase protein family. The encoded protein catalyzes the isomerization of peptidylprolyl bonds, and may play a role in the cell cycle, chromatin remodeling, and/or ribosome biogenesis. The encoded protein may play an additional role in the mitochondria. [provided by RefSeq, Dec 2009] Expression Ubiquitous expression in liver (RPKM 5.5), kidney (RPKM 4.8) and 25 other tissues See more Orthologs mouse all
PINCR, Official Symbol PINCRprovided by HGNC Official Full Name p53-induced noncoding RNAprovided by HGNC Primary source HGNC:HGNC:53590 See related Ensembl:ENSG00000224294 AllianceGenome:HGNC:53590 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
PINK1, Official Symbol PINK1provided by HGNC Official Full Name PTEN induced kinase 1provided by HGNC Primary source HGNC:HGNC:14581 See related Ensembl:ENSG00000158828 MIM:608309; AllianceGenome:HGNC:14581 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 BRPK; PARK6 Summary This gene encodes a serine/threonine protein kinase that localizes to mitochondria. It is thought to protect cells from stress-induced mitochondrial dysfunction. Mutations in this gene cause one form of autosomal recessive early-onset Parkinson disease. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in testis (RPKM 68.4), brain (RPKM 68.3) and 25 other tissues See more Orthologs mouse all
PINK1-AS, Official Symbol PINK1-ASprovided by HGNC Official Full Name PINK1 antisense RNAprovided by HGNC Primary source HGNC:HGNC:38872 See related Ensembl:ENSG00000117242 AllianceGenome:HGNC:38872 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 NAPINK1; PINK1AS; PINK1-AS1 Expression Ubiquitous expression in testis (RPKM 29.0), brain (RPKM 28.8) and 25 other tissues See more
PINLYP, Official Symbol PINLYPprovided by HGNC Official Full Name phospholipase A2 inhibitor and LY6/PLAUR domain containingprovided by HGNC Primary source HGNC:HGNC:44206 See related Ensembl:ENSG00000234465 AllianceGenome:HGNC:44206 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 Predicted to enable phospholipase inhibitor activity. Predicted to be involved in negative regulation of catalytic activity. Predicted to be located in extracellular region. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in ovary (RPKM 1.9), endometrium (RPKM 1.3) and 25 other tissues See more Orthologs mouse all
PIP, Official Symbol PIPprovided by HGNC Official Full Name prolactin induced proteinprovided by HGNC Primary source HGNC:HGNC:8993 See related Ensembl:ENSG00000159763 MIM:176720; AllianceGenome:HGNC:8993 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 GPIP4; BRST-2; GCDFP15; GCDFP-15 Summary Enables IgG binding activity; aspartic-type endopeptidase activity; and identical protein binding activity. Involved in several processes, including detection of chemical stimulus involved in sensory perception of bitter taste; negative regulation of T cell apoptotic process; and proteolysis. Located in extracellular space and nucleus. [provided by Alliance of Genome Resources, Apr 2022] Expression Restricted expression toward salivary gland (RPKM 2757.7) See more Orthologs all
PIP4K2A, Official Symbol PIP4K2Aprovided by HGNC Official Full Name phosphatidylinositol-5-phosphate 4-kinase type 2 alphaprovided by HGNC Primary source HGNC:HGNC:8997 See related Ensembl:ENSG00000150867 MIM:603140; AllianceGenome:HGNC:8997 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 PIPK; PI5P4KA; PIP5K2A; PIP5KIIA; PIP5KII-alpha Summary Phosphatidylinositol-5,4-bisphosphate, the precursor to second messengers of the phosphoinositide signal transduction pathways, is thought to be involved in the regulation of secretion, cell proliferation, differentiation, and motility. The protein encoded by this gene is one of a family of enzymes capable of catalyzing the phosphorylation of phosphatidylinositol-5-phosphate on the fourth hydroxyl of the myo-inositol ring to form phosphatidylinositol-5,4-bisphosphate. The amino acid sequence of this enzyme does not show homology to other kinases, but the recombinant protein does exhibit kinase activity. This gene is a member of the phosphatidylinositol-5-phosphate 4-kinase family. [provided by RefSeq, Jul 2008] Expression Broad expression in brain (RPKM 41.4), lymph node (RPKM 29.9) and 23 other tissues See more Orthologs mouse all
PIP4K2B, Official Symbol PIP4K2Bprovided by HGNC Official Full Name phosphatidylinositol-5-phosphate 4-kinase type 2 betaprovided by HGNC Primary source HGNC:HGNC:8998 See related Ensembl:ENSG00000276293 MIM:603261; AllianceGenome:HGNC:8998 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 PI5P4KB; PIP5K2B; PIP5KIIB; PIP5P4KB; PIP5KIIbeta Summary The protein encoded by this gene catalyzes the phosphorylation of phosphatidylinositol-5-phosphate on the fourth hydroxyl of the myo-inositol ring to form phosphatidylinositol-5,4-bisphosphate. This gene is a member of the phosphatidylinositol-5-phosphate 4-kinase family. The encoded protein sequence does not show similarity to other kinases, but the protein does exhibit kinase activity. Additionally, the encoded protein interacts with p55 TNF receptor. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in brain (RPKM 40.4), ovary (RPKM 23.8) and 24 other tissues See more Orthologs mouse all
PIP4K2C, Official Symbol PIP4K2Cprovided by HGNC Official Full Name phosphatidylinositol-5-phosphate 4-kinase type 2 gammaprovided by HGNC Primary source HGNC:HGNC:23786 See related Ensembl:ENSG00000166908 MIM:617104; AllianceGenome:HGNC:23786 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 PIP5K2C Summary Enables 1-phosphatidylinositol-4-phosphate 5-kinase activity and identical protein binding activity. Involved in several processes, including 1-phosphatidyl-1D-myo-inositol 4,5-bisphosphate biosynthetic process; negative regulation of 1-phosphatidylinositol-4-phosphate 5-kinase activity; and positive regulation of autophagosome assembly. Located in several cellular components, including autophagosome; cytosol; and nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in testis (RPKM 18.0), kidney (RPKM 16.8) and 25 other tissues See more Orthologs mouse all
PIP4P1, Official Symbol PIP4P1provided by HGNC Official Full Name phosphatidylinositol-4,5-bisphosphate 4-phosphatase 1provided by HGNC Primary source HGNC:HGNC:19299 See related Ensembl:ENSG00000165782 MIM:609865; AllianceGenome:HGNC:19299 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 C14orf9; TMEM55B Summary TMEM55B catalyzes the degradation of phosphatidylinositol 4,5-bisphosphate (PtdIns-4,5-P2) by removing the 4-phosphate (Ungewickell et al., 2005 [PubMed 16365287]).[supplied by OMIM, Mar 2008] Expression Ubiquitous expression in bone marrow (RPKM 22.8), thyroid (RPKM 17.4) and 25 other tissues See more Orthologs mouse all
PIP4P2, Official Symbol PIP4P2provided by HGNC Official Full Name phosphatidylinositol-4,5-bisphosphate 4-phosphatase 2provided by HGNC Primary source HGNC:HGNC:25452 See related Ensembl:ENSG00000155099 MIM:609864; AllianceGenome:HGNC:25452 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 TMEM55A Summary TMEM55A catalyzes the degradation of phosphatidylinositol 4,5-bisphosphate (PtdIns-4,5-P2) by removing the 4-phosphate (Ungewickell et al., 2005 [PubMed 16365287]).[supplied by OMIM, Mar 2008] Expression Ubiquitous expression in bone marrow (RPKM 11.6), adrenal (RPKM 9.7) and 24 other tissues See more Orthologs mouse all
PIP5K1A, Official Symbol PIP5K1Aprovided by HGNC Official Full Name phosphatidylinositol-4-phosphate 5-kinase type 1 alphaprovided by HGNC Primary source HGNC:HGNC:8994 See related Ensembl:ENSG00000143398 MIM:603275; AllianceGenome:HGNC:8994 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 1-phosphatidylinositol-4-phosphate 5-kinase activity and kinase binding activity. Involved in several processes, including activation of GTPase activity; focal adhesion assembly; and ruffle assembly. Located in several cellular components, including lamellipodium; nuclear speck; and ruffle membrane. Colocalizes with mRNA cleavage and polyadenylation specificity factor complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in testis (RPKM 22.2), placenta (RPKM 13.0) and 25 other tissues See more Orthologs mouse all
PIP5K1B, Official Symbol PIP5K1Bprovided by HGNC Official Full Name phosphatidylinositol-4-phosphate 5-kinase type 1 betaprovided by HGNC Primary source HGNC:HGNC:8995 See related Ensembl:ENSG00000107242 MIM:602745; AllianceGenome:HGNC:8995 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 MSS4; STM7 Summary Predicted to enable 1-phosphatidylinositol-4-phosphate 5-kinase activity. Predicted to be involved in regulation of phosphatidylinositol 3-kinase signaling. Predicted to act upstream of or within phosphatidylinositol biosynthetic process. Located in uropod. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in colon (RPKM 8.2), duodenum (RPKM 7.6) and 20 other tissues See more Orthologs mouse all
PIP5K1C, Official Symbol PIP5K1Cprovided by HGNC Official Full Name phosphatidylinositol-4-phosphate 5-kinase type 1 gammaprovided by HGNC Primary source HGNC:HGNC:8996 See related Ensembl:ENSG00000186111 MIM:606102; AllianceGenome:HGNC:8996 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 LCCS3; PIP5Kgamma; PIP5K-GAMMA; PIP5K1-gamma Summary This locus encodes a type I phosphatidylinositol 4-phosphate 5-kinase. The encoded protein catalyzes phosphorylation of phosphatidylinositol 4-phosphate, producing phosphatidylinositol 4,5-bisphosphate. This enzyme is found at synapses and has been found to play roles in endocytosis and cell migration. Mutations at this locus have been associated with lethal congenital contractural syndrome. Alternatively spliced transcript variants encoding different isoforms have been described.[provided by RefSeq, Sep 2010] Expression Broad expression in testis (RPKM 14.7), brain (RPKM 13.9) and 25 other tissues See more Orthologs mouse all
PIP5K1P2, Official Symbol PIP5K1P2provided by HGNC Official Full Name phosphatidylinositol-4-phosphate 5-kinase type 1 pseudogene 2provided by HGNC Primary source HGNC:HGNC:38068 See related AllianceGenome:HGNC:38068 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
PIP5KL1, Official Symbol PIP5KL1provided by HGNC Official Full Name phosphatidylinositol-4-phosphate 5-kinase like 1provided by HGNC Primary source HGNC:HGNC:28711 See related Ensembl:ENSG00000167103 MIM:612865; AllianceGenome:HGNC:28711 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 PIPKH Summary PIP5KL1 is a phosphoinositide kinase-like protein that lacks intrinsic lipid kinase activity but associates with type I PIPKs (see PIP5K1A; MIM 603275) and may play a role in localization of PIPK activity (Chang et al., 2004 [PubMed 14701839]).[supplied by OMIM, Jun 2009] Expression Low expression observed in reference dataset See more Orthologs mouse all
PIPOX, Official Symbol PIPOXprovided by HGNC Official Full Name pipecolic acid and sarcosine oxidaseprovided by HGNC Primary source HGNC:HGNC:17804 See related Ensembl:ENSG00000179761 MIM:616713; AllianceGenome:HGNC:17804 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 LPIPOX Summary Enables L-pipecolate oxidase activity and sarcosine oxidase activity. Involved in L-lysine catabolic process to acetyl-CoA via L-pipecolate. Located in peroxisome. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in liver (RPKM 113.3) and kidney (RPKM 56.6) See more Orthologs mouse all
PIPSL, Official Symbol PIPSLprovided by HGNC Official Full Name PIP5K1A and PSMD4 like (pseudogene)provided by HGNC Primary source HGNC:HGNC:23733 See related Ensembl:ENSG00000180764 AllianceGenome:HGNC:23733 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 PSMD4P2; PIP5K1L1; PIP5K1P3; bA429H9.1 Summary This locus is a transcribed pseudogene with similarity to two adjacent chromosome 1 loci: phosphatidylinositol-4-phosphate 5-kinase, type I, alpha (PIP5K1A, GeneID 8394) and proteasome (prosome, macropain) 26S subunit, non-ATPase, 4 (PSMD4, GeneID 5710). The pseudogene is believed to have occurred from L1 retrotransposition into chromosome 10 of a read-through transcript between the two adjacent loci. Evidence of transcription has been found (PubMed IDs: 16344562 and 17623810), but the latter publication found no evidence that the predicted protein is translated. The NCBI RefSeq Project therefore continues to treat this as a transcribed pseudogene. [provided by RefSeq, Jan 2009] Annotation information Note: This locus is a transcribed pseudogene with similarity to two adjacent chromosome 1 loci: phosphatidylinositol-4-phosphate 5-kinase, type I, alpha (PIP5K1A, GeneID 8394) and proteasome (prosome, macropain) 26S subunit, non-ATPase, 4 (PSMD4, GeneID 5710). The pseudogene is believed to have occurred from L1 retrotransposition into chromosome 10 of a read-through transcript between the two adjacent loci. Evidence of transcription has been found (PubMed IDs: 16344562 and 17623810), but the latter publication found no evidence that the predicted protein is translated. The NCBI RefSeq Project therefore continues to treat this as a transcribed pseudogene. [13 Feb 2013]
PIR, Official Symbol PIRprovided by HGNC Official Full Name pirinprovided by HGNC Primary source HGNC:HGNC:30048 See related Ensembl:ENSG00000087842 MIM:300931; AllianceGenome:HGNC:30048 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 member of the cupin superfamily. The encoded protein is an Fe(II)-containing nuclear protein expressed in all tissues of the body and concentrated within dot-like subnuclear structures. Interactions with nuclear factor I/CCAAT box transcription factor as well as B cell lymphoma 3-encoded oncoprotein suggest the encoded protein may act as a transcriptional cofactor and be involved in the regulation of DNA transcription and replication. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in fat (RPKM 9.0), urinary bladder (RPKM 8.0) and 24 other tissues See more Orthologs mouse all
PIRT, Official Symbol PIRTprovided by HGNC Official Full Name phosphoinositide interacting regulator of transient receptor potential channelsprovided by HGNC Primary source HGNC:HGNC:37239 See related Ensembl:ENSG00000233670 MIM:612068; AllianceGenome:HGNC:37239 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 Predicted to enable phosphatidylinositol bisphosphate binding activity and transmembrane transporter binding activity. Predicted to be involved in phosphatidylinositol-mediated signaling and positive regulation of cation channel activity. Predicted to act upstream of or within behavioral response to pain and response to heat. Predicted to be integral component of membrane. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in adrenal (RPKM 1.6), brain (RPKM 1.3) and 7 other tissues See more Orthologs mouse all
PISD, Official Symbol PISDprovided by HGNC Official Full Name phosphatidylserine decarboxylaseprovided by HGNC Primary source HGNC:HGNC:8999 See related Ensembl:ENSG00000241878 MIM:612770; AllianceGenome:HGNC:8999 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 PSD; LIBF; PSDC; PSSC; DJ858B16; dJ858B16.2 Summary The protein encoded by this gene catalyzes the conversion of phosphatidylserine to phosphatidylethanolamine in the inner mitochondrial membrane. The encoded protein is active in phospholipid metabolism and interorganelle trafficking of phosphatidylserine. [provided by RefSeq, May 2016] Expression Ubiquitous expression in placenta (RPKM 30.5), fat (RPKM 25.3) and 25 other tissues See more Orthologs mouse all
PISRT1, Official Symbol PISRT1provided by HGNC Official Full Name PISRT1 lncRNAprovided by HGNC Primary source HGNC:HGNC:16671 See related AllianceGenome:HGNC:16671 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 NCRNA00195
PITHD1, Official Symbol PITHD1provided by HGNC Official Full Name PITH domain containing 1provided by HGNC Primary source HGNC:HGNC:25022 See related Ensembl:ENSG00000057757 MIM:618784; AllianceGenome:HGNC:25022 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 HT014; TXNL1CL; C1orf128 Summary Involved in positive regulation of megakaryocyte differentiation and positive regulation of transcription, DNA-templated. Located in cytoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in brain (RPKM 48.5), bone marrow (RPKM 31.2) and 25 other tissues See more Orthologs mouse all
PITPNA, Official Symbol PITPNAprovided by HGNC Official Full Name phosphatidylinositol transfer protein alphaprovided by HGNC Primary source HGNC:HGNC:9001 See related Ensembl:ENSG00000174238 MIM:600174; AllianceGenome:HGNC:9001 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 PITPN; VIB1A; HEL-S-36; PI-TPalpha Summary This gene encodes a member of a family of lipid-binding proteins that transfer molecules of phosphatidylinositol or phosphatidylcholine between membrane surfaces. The protein is implicated in phospholipase C signaling and in the production of phosphatidylinositol 3,4,5-trisphosphate (PIP3) by phosphoinositide-3-kinase.[provided by RefSeq, Sep 2009] Expression Ubiquitous expression in brain (RPKM 31.8), thyroid (RPKM 27.9) and 25 other tissues See more Orthologs mouse all
PITPNA-AS1, Official Symbol PITPNA-AS1provided by HGNC Official Full Name PITPNA antisense RNA 1provided by HGNC Primary source HGNC:HGNC:44116 See related Ensembl:ENSG00000236618 AllianceGenome:HGNC:44116 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 Ubiquitous expression in ovary (RPKM 12.4), testis (RPKM 11.1) and 25 other tissues See more
PITPNB, Official Symbol PITPNBprovided by HGNC Official Full Name phosphatidylinositol transfer protein betaprovided by HGNC Primary source HGNC:HGNC:9002 See related Ensembl:ENSG00000180957 MIM:606876; AllianceGenome:HGNC:9002 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 VIB1B; PtdInsTP; PI-TP-beta Summary This gene encodes a cytoplasmic protein that catalyzes the transfer of phosphatidylinositol and phosphatidylcholine between membranes. This transfer activity is required for COPI complex-mediated retrograde transport from the Golgi apparatus to the endoplasmic reticulum. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Sep 2013] Expression Ubiquitous expression in esophagus (RPKM 27.0), urinary bladder (RPKM 21.0) and 25 other tissues See more Orthologs mouse all
PITPNC1, Official Symbol PITPNC1provided by HGNC Official Full Name phosphatidylinositol transfer protein cytoplasmic 1provided by HGNC Primary source HGNC:HGNC:21045 See related Ensembl:ENSG00000154217 MIM:605134; AllianceGenome:HGNC:21045 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 RDGBB; RDGBB1; MRDGBbeta; RDGB-BETA; M-RDGB-beta Summary This gene encodes a member of the phosphatidylinositol transfer protein family. The encoded cytoplasmic protein plays a role in multiple processes including cell signaling and lipid metabolism by facilitating the transfer of phosphatidylinositol between membrane compartments. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 1. [provided by RefSeq, May 2012] Expression Ubiquitous expression in brain (RPKM 10.9), lymph node (RPKM 5.0) and 24 other tissues See more Orthologs mouse all
PITPNM1, Official Symbol PITPNM1provided by HGNC Official Full Name phosphatidylinositol transfer protein membrane associated 1provided by HGNC Primary source HGNC:HGNC:9003 See related Ensembl:ENSG00000110697 MIM:608794; AllianceGenome:HGNC:9003 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 Rd9; NIR2; RDGB; DRES9; RDGB1; RDGBA; PITPNM; RDGBA1 Summary PITPNM1 belongs to a family of membrane-associated phosphatidylinositol transfer domain-containing proteins that share homology with the Drosophila retinal degeneration B (rdgB) protein (Ocaka et al., 2005 [PubMed 15627748]).[supplied by OMIM, Mar 2008] Expression Ubiquitous expression in spleen (RPKM 10.5), lymph node (RPKM 9.7) and 24 other tissues See more Orthologs mouse all
PITPNM2, Official Symbol PITPNM2provided by HGNC Official Full Name phosphatidylinositol transfer protein membrane associated 2provided by HGNC Primary source HGNC:HGNC:21044 See related Ensembl:ENSG00000090975 MIM:608920; AllianceGenome:HGNC:21044 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 NIR3; NIR-3; RDGB2; RDGBA2 Summary PITPNM2 belongs to a family of membrane-associated phosphatidylinositol transfer domain-containing proteins that share homology with the Drosophila retinal degeneration B (rdgB) protein (Ocaka et al., 2005 [PubMed 15627748]).[supplied by OMIM, Mar 2008] Expression Ubiquitous expression in ovary (RPKM 9.1), brain (RPKM 5.5) and 24 other tissues See more Orthologs mouse all
PITPNM2-AS1, Official Symbol PITPNM2-AS1provided by HGNC Official Full Name PITPNM2 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:53391 See related Ensembl:ENSG00000251497 AllianceGenome:HGNC:53391 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 Restricted expression toward testis (RPKM 1.7) See more
PITPNM3, Official Symbol PITPNM3provided by HGNC Official Full Name PITPNM family member 3provided by HGNC Primary source HGNC:HGNC:21043 See related Ensembl:ENSG00000091622 MIM:608921; AllianceGenome:HGNC:21043 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 NIR1; ACKR6; CORD5; RDGBA3 Summary This gene encodes a member of a family of membrane-associated phosphatidylinositol transfer domain-containing proteins. The calcium-binding protein has phosphatidylinositol (PI) transfer activity and interacts with the protein tyrosine kinase PTK2B (also known as PYK2). The protein is homologous to a Drosophila protein that is implicated in the visual transduction pathway in flies. Mutations in this gene result in autosomal dominant cone dystrophy. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009] Expression Biased expression in spleen (RPKM 27.1), ovary (RPKM 12.0) and 6 other tissues See more Orthologs mouse all
PITRM1, Official Symbol PITRM1provided by HGNC Official Full Name pitrilysin metallopeptidase 1provided by HGNC Primary source HGNC:HGNC:17663 See related Ensembl:ENSG00000107959 MIM:618211; AllianceGenome:HGNC:17663 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 MP1; PreP; SCAR30 Summary The protein encoded by this gene is an ATP-dependent metalloprotease that degrades post-cleavage mitochondrial transit peptides. The encoded protein binds zinc and can also degrade amyloid beta A4 protein, suggesting a possible role in Alzheimer's disease. [provided by RefSeq, Dec 2016] Annotation information Note: The official gene symbol PREP (prolyl endopeptidase) on GeneID: 5550 can be confused with the alias for presequence protease (PREP) on GeneID: 10531 whose official symbol is PITRM1 (pitrilysin metallopeptidase 1). [20 Jun 2018] Expression Ubiquitous expression in testis (RPKM 24.8), adrenal (RPKM 18.5) and 25 other tissues See more Orthologs mouse all
PITRM1-AS1, Official Symbol PITRM1-AS1provided by HGNC Official Full Name PITRM1 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:44675 See related Ensembl:ENSG00000237399 AllianceGenome:HGNC:44675 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 Ubiquitous expression in testis (RPKM 5.6), ovary (RPKM 3.6) and 25 other tissues See more
PITX1, Official Symbol PITX1provided by HGNC Official Full Name paired like homeodomain 1provided by HGNC Primary source HGNC:HGNC:9004 See related Ensembl:ENSG00000069011 MIM:602149; AllianceGenome:HGNC:9004 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 BFT; CCF; POTX; PTX1; LBNBG Summary This gene encodes a member of the RIEG/PITX homeobox family, which is in the bicoid class of homeodomain proteins. Members of this family are involved in organ development and left-right asymmetry. This protein acts as a transcriptional regulator involved in basal and hormone-regulated activity of prolactin. [provided by RefSeq, Jul 2008] Expression Biased expression in esophagus (RPKM 52.6), salivary gland (RPKM 12.7) and 6 other tissues See more Orthologs mouse all
PITX2, Official Symbol PITX2provided by HGNC Official Full Name paired like homeodomain 2provided by HGNC Primary source HGNC:HGNC:9005 See related Ensembl:ENSG00000164093 MIM:601542; AllianceGenome:HGNC:9005 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 RS; RGS; ARP1; Brx1; IDG2; IGDS; IHG2; PTX2; RIEG; ASGD4; IGDS2; IRID2; Otlx2; RIEG1 Summary This gene encodes a member of the RIEG/PITX homeobox family, which is in the bicoid class of homeodomain proteins. The encoded protein acts as a transcription factor and regulates procollagen lysyl hydroxylase gene expression. This protein plays a role in the terminal differentiation of somatotroph and lactotroph cell phenotypes, is involved in the development of the eye, tooth and abdominal organs, and acts as a transcriptional regulator involved in basal and hormone-regulated activity of prolactin. Mutations in this gene are associated with Axenfeld-Rieger syndrome, iridogoniodysgenesis syndrome, and sporadic cases of Peters anomaly. A similar protein in other vertebrates is involved in the determination of left-right asymmetry during development. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2008] Expression Biased expression in placenta (RPKM 15.1), urinary bladder (RPKM 3.5) and 6 other tissues See more Orthologs mouse all
PITX3, Official Symbol PITX3provided by HGNC Official Full Name paired like homeodomain 3provided by HGNC Primary source HGNC:HGNC:9006 See related Ensembl:ENSG00000107859 MIM:602669; AllianceGenome:HGNC:9006 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 ASMD; ASOD; PTX3; ASGD1; CTPP4; CTRCT11 Summary This gene encodes a member of the RIEG/PITX homeobox family, which is in the bicoid class of homeodomain proteins. Members of this family act as transcription factors. This protein is involved in lens formation during eye development. Mutations of this gene have been associated with anterior segment mesenchymal dysgenesis and congenital cataracts. [provided by RefSeq, Jul 2008] Expression Low expression observed in reference dataset See more Orthologs mouse all
PIWIL1, Official Symbol PIWIL1provided by HGNC Official Full Name piwi like RNA-mediated gene silencing 1provided by HGNC Primary source HGNC:HGNC:9007 See related Ensembl:ENSG00000125207 MIM:605571; AllianceGenome:HGNC:9007 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 HIWI; MIWI; PIWI; CT80.1 Summary This gene encodes a member of the PIWI subfamily of Argonaute proteins, evolutionarily conserved proteins containing both PAZ and Piwi motifs that play important roles in stem cell self-renewal, RNA silencing, and translational regulation in diverse organisms. The encoded protein may play a role as an intrinsic regulator of the self-renewal capacity of germline and hematopoietic stem cells. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2010] Expression Restricted expression toward testis (RPKM 57.0) See more Orthologs mouse all
PIWIL2, Official Symbol PIWIL2provided by HGNC Official Full Name piwi like RNA-mediated gene silencing 2provided by HGNC Primary source HGNC:HGNC:17644 See related Ensembl:ENSG00000197181 MIM:610312; AllianceGenome:HGNC:17644 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 CT80; HILI; mili; PIWIL1L Summary PIWIL2 belongs to the Argonaute family of proteins, which function in development and maintenance of germline stem cells (Sasaki et al., 2003 [PubMed 12906857]).[supplied by OMIM, Mar 2008] Expression Biased expression in testis (RPKM 18.7), duodenum (RPKM 3.2) and 2 other tissues See more Orthologs mouse all
PIWIL3, Official Symbol PIWIL3provided by HGNC Official Full Name piwi like RNA-mediated gene silencing 3provided by HGNC Primary source HGNC:HGNC:18443 See related Ensembl:ENSG00000184571 MIM:610314; AllianceGenome:HGNC:18443 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 HIWI3 Summary This gene encodes a member of the PIWI subfamily of Argonaute family proteins. This subfamily of proteins contains a PAZ domain, found in proteins involved in RNA-mediated gene silencing, and a C-terminal Piwi domain. The encoded protein is thought to function in maintenance of germline cells. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011] Expression Low expression observed in reference dataset See more Orthologs all
PIWIL4, Official Symbol PIWIL4provided by HGNC Official Full Name piwi like RNA-mediated gene silencing 4provided by HGNC Primary source HGNC:HGNC:18444 See related Ensembl:ENSG00000134627 MIM:610315; AllianceGenome:HGNC:18444 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 HIWI2; MIWI2 Summary PIWIL4 belongs to the Argonaute family of proteins, which function in development and maintenance of germline stem cells (Sasaki et al., 2003 [PubMed 12906857]).[supplied by OMIM, Mar 2008] Expression Broad expression in bone marrow (RPKM 9.2), testis (RPKM 8.7) and 19 other tissues See more Orthologs mouse all
PJA1, Official Symbol PJA1provided by HGNC Official Full Name praja ring finger ubiquitin ligase 1provided by HGNC Primary source HGNC:HGNC:16648 See related Ensembl:ENSG00000181191 MIM:300420; AllianceGenome:HGNC:16648 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 RNF70; PRAJA1 Summary This gene encodes an enzyme that has E2-dependent E3 ubiquitin-protein ligase activity. This enzyme belongs to a class of ubiquitin ligases that include a RING finger motif, and it can interact with the E2 ubiquitin-conjugating enzyme UbcH5B. This gene is located in an area of chromosome X where several X-linked cognitive disability disorders have been associated, and it has also been found as part of a contiguous gene deletion associated with craniofrontonasal syndrome, though a direct link to any disorder has yet to be demonstrated. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2010] Expression Broad expression in brain (RPKM 23.0), testis (RPKM 16.5) and 24 other tissues See more Orthologs mouse all
PJA2, Official Symbol PJA2provided by HGNC Official Full Name praja ring finger ubiquitin ligase 2provided by HGNC Primary source HGNC:HGNC:17481 See related Ensembl:ENSG00000198961 MIM:619341; AllianceGenome:HGNC:17481 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 RNF131; Neurodap1 Summary Enables protein kinase A catalytic subunit binding activity; protein kinase A regulatory subunit binding activity; and ubiquitin-protein transferase activity. Involved in several processes, including protein ubiquitination; regulation of macrophage activation; and regulation of signal transduction. Located in cytoplasm; intermediate filament cytoskeleton; and plasma membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in brain (RPKM 108.1), thyroid (RPKM 63.6) and 24 other tissues See more Orthologs mouse all
PJVK, Official Symbol PJVKprovided by HGNC Official Full Name pejvakinprovided by HGNC Primary source HGNC:HGNC:29502 See related Ensembl:ENSG00000204311 MIM:610219; AllianceGenome:HGNC:29502 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 DFNB59 Summary The protein encoded by this gene is a member of the gasdermin family, a family which is found only in vertebrates. The encoded protein is required for the proper function of auditory pathway neurons. Defects in this gene are a cause of non-syndromic sensorineural deafness autosomal recessive type 59 (DFNB59). [provided by RefSeq, Dec 2008] Expression Broad expression in testis (RPKM 5.2), ovary (RPKM 1.3) and 20 other tissues See more Orthologs mouse all
PKD1, Official Symbol PKD1provided by HGNC Official Full Name polycystin 1, transient receptor potential channel interactingprovided by HGNC Primary source HGNC:HGNC:9008 See related Ensembl:ENSG00000008710 MIM:601313; AllianceGenome:HGNC:9008 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 PBP; PC1; Pc-1; TRPP1 Summary This gene encodes a member of the polycystin protein family. The encoded glycoprotein contains a large N-terminal extracellular region, multiple transmembrane domains and a cytoplasmic C-tail. It is an integral membrane protein that functions as a regulator of calcium permeable cation channels and intracellular calcium homoeostasis. It is also involved in cell-cell/matrix interactions and may modulate G-protein-coupled signal-transduction pathways. It plays a role in renal tubular development, and mutations in this gene cause autosomal dominant polycystic kidney disease type 1 (ADPKD1). ADPKD1 is characterized by the growth of fluid-filled cysts that replace normal renal tissue and result in end-stage renal failure. Splice variants encoding different isoforms have been noted for this gene. Also, six pseudogenes, closely linked in a known duplicated region on chromosome 16p, have been described. [provided by RefSeq, Oct 2008] Annotation information Annotation category: suggests misassembly Expression Ubiquitous expression in endometrium (RPKM 11.1), fat (RPKM 9.6) and 25 other tissues See more Orthologs mouse all
PKD1L1, Official Symbol PKD1L1provided by HGNC Official Full Name polycystin 1 like 1, transient receptor potential channel interactingprovided by HGNC Primary source HGNC:HGNC:18053 See related Ensembl:ENSG00000158683 MIM:609721; AllianceGenome:HGNC:18053 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 HTX8; PRO19563 Summary This gene encodes a member of the polycystin protein family containing 11 transmembrane domains, a receptor for egg jelly (REJ) domain, and a polycystin-1, lipoxygenase, alpha-toxin (PLAT) domain. The encoded protein may play a role in the male reproductive system. Alternative splice variants have been described but their biological nature has not been determined. [provided by RefSeq, Jul 2008] Expression Low expression observed in reference dataset See more Orthologs mouse all
PKD1L2, Official Symbol PKD1L2provided by HGNC Official Full Name polycystin 1 like 2 (gene/pseudogene)provided by HGNC Primary source HGNC:HGNC:21715 See related Ensembl:ENSG00000166473 MIM:607894; AllianceGenome:HGNC:21715 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 PC1L2 Summary This gene encodes a member of the polycystin protein family. This protein may function as a G-protein-coupled component or regulator of cation channel pores. The long isoform of this protein contains 11 transmembrane domains, a latrophilin/CL-1-like GPCR proteolytic site (GPS) domain, and a polycystin-1, lipoxygenase, alpha-toxin (PLAT) domain. Alternative splicing results in multiple transcript variants encoding distinct isoforms. This gene is a polymorphic pseudogene in humans. [provided by RefSeq, May 2022] Annotation information Annotation category: suggests misassembly Note: Genetic polymorphisms result in both protein coding and non-coding alleles of this gene. Expression Biased expression in fat (RPKM 3.7), heart (RPKM 1.2) and 7 other tissues See more Orthologs all
PKD1L3, Official Symbol PKD1L3provided by HGNC Official Full Name polycystin 1 like 3, transient receptor potential channel interactingprovided by HGNC Primary source HGNC:HGNC:21716 See related Ensembl:ENSG00000277481 MIM:607895; AllianceGenome:HGNC:21716 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 This gene encodes a member of the polycystin protein family. The encoded protein contains 11 transmembrane domains, a latrophilin/CL-1-like GPCR proteolytic site (GPS) domain, and a polycystin-1, lipoxygenase, alpha-toxin (PLAT) domain. This protein may function as a component of cation channel pores.[provided by RefSeq, Apr 2009] Expression Ubiquitous expression in gall bladder (RPKM 11.1), spleen (RPKM 10.8) and 25 other tissues See more Orthologs mouse all
PKD1P2, Official Symbol PKD1P2provided by HGNC Official Full Name polycystin 1, transient receptor potential channel interacting pseudogene 2provided by HGNC Primary source HGNC:HGNC:30066 See related Ensembl:ENSG00000227827 AllianceGenome:HGNC:30066 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 HG2
PKD1P3, Official Symbol PKD1P3provided by HGNC Official Full Name polycystin 1, transient receptor potential channel interacting pseudogene 3provided by HGNC Primary source HGNC:HGNC:30067 See related Ensembl:ENSG00000183458 AllianceGenome:HGNC:30067 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 HG3
PKD1P4, Official Symbol PKD1P4provided by HGNC Official Full Name polycystin 1, transient receptor potential channel interacting pseudogene 4provided by HGNC Primary source HGNC:HGNC:30068 See related Ensembl:ENSG00000205746 AllianceGenome:HGNC:30068 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 HG4
PKD1P5, Official Symbol PKD1P5provided by HGNC Official Full Name polycystin 1, transient receptor potential channel interacting pseudogene 5provided by HGNC Primary source HGNC:HGNC:30069 See related Ensembl:ENSG00000254681 AllianceGenome:HGNC:30069 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 HG5
PKD1P6, Official Symbol PKD1P6provided by HGNC Official Full Name polycystin 1, transient receptor potential channel interacting pseudogene 6provided by HGNC Primary source HGNC:HGNC:30070 See related Ensembl:ENSG00000250251 AllianceGenome:HGNC:30070 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 HG6