psui3905/ncbi_genes_summary huggingface dataset:
PTPRE, Official Symbol PTPREprovided by HGNC Official Full Name protein tyrosine phosphatase receptor type Eprovided by HGNC Primary source HGNC:HGNC:9669 See related Ensembl:ENSG00000132334 MIM:600926; AllianceGenome:HGNC:9669 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 PTPE; HPTPE; R-PTP-EPSILON Summary The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. Several alternatively spliced transcript variants of this gene have been reported, at least two of which encode a receptor-type PTP that possesses a short extracellular domain, a single transmembrane region, and two tandem intracytoplasmic catalytic domains; another one encodes a PTP that contains a distinct hydrophilic N-terminus, and thus represents a nonreceptor-type isoform of this PTP. Studies of the similar gene in mice suggested the regulatory roles of this PTP in RAS related signal transduction pathways, cytokine-induced SATA signaling, as well as the activation of voltage-gated K+ channels. [provided by RefSeq, Oct 2015] Expression Broad expression in bone marrow (RPKM 31.9), appendix (RPKM 9.8) and 14 other tissues See more Orthologs mouse all
PTPRF, Official Symbol PTPRFprovided by HGNC Official Full Name protein tyrosine phosphatase receptor type Fprovided by HGNC Primary source HGNC:HGNC:9670 See related Ensembl:ENSG00000142949 MIM:179590; AllianceGenome:HGNC:9670 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 LAR; BNAH2 Summary The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP possesses an extracellular region, a single transmembrane region, and two tandem intracytoplasmic catalytic domains, and thus represents a receptor-type PTP. The extracellular region contains three Ig-like domains, and nine non-Ig like domains similar to that of neural-cell adhesion molecule. This PTP was shown to function in the regulation of epithelial cell-cell contacts at adherents junctions, as well as in the control of beta-catenin signaling. An increased expression level of this protein was found in the insulin-responsive tissue of obese, insulin-resistant individuals, and may contribute to the pathogenesis of insulin resistance. Two alternatively spliced transcript variants of this gene, which encode distinct proteins, have been reported. [provided by RefSeq, Jul 2008] Expression Broad expression in fat (RPKM 56.2), skin (RPKM 52.7) and 21 other tissues See more Orthologs mouse all
PTPRG, Official Symbol PTPRGprovided by HGNC Official Full Name protein tyrosine phosphatase receptor type Gprovided by HGNC Primary source HGNC:HGNC:9671 See related Ensembl:ENSG00000144724 MIM:176886; AllianceGenome:HGNC:9671 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 PTPG; HPTPG; RPTPG; R-PTP-GAMMA Summary The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP possesses an extracellular region, a single transmembrane region, and two tandem intracytoplasmic catalytic domains, and thus represents a receptor-type PTP. The extracellular region of this PTP contains a carbonic anhydrase-like (CAH) domain, which is also found in the extracellular region of PTPRBETA/ZETA. This gene is located in a chromosomal region that is frequently deleted in renal cell carcinoma and lung carcinoma, thus is thought to be a candidate tumor suppressor gene. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in fat (RPKM 11.5), kidney (RPKM 9.0) and 23 other tissues See more Orthologs mouse all
PTPRG-AS1, Official Symbol PTPRG-AS1provided by HGNC Official Full Name PTPRG antisense RNA 1provided by HGNC Primary source HGNC:HGNC:44638 See related Ensembl:ENSG00000241472 AllianceGenome:HGNC:44638 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Expression Broad expression in adrenal (RPKM 4.9), kidney (RPKM 4.8) and 23 other tissues See more
PTPRH, Official Symbol PTPRHprovided by HGNC Official Full Name protein tyrosine phosphatase receptor type Hprovided by HGNC Primary source HGNC:HGNC:9672 See related Ensembl:ENSG00000080031 MIM:602510; AllianceGenome:HGNC:9672 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 SAP1; R-PTP-H Summary The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP possesses an extracellular region, a single transmembrane region, and a single intracytoplasmic catalytic domain, and thus represents a receptor-type PTP. The extracellular region contains eight fibronectin type III-like repeats and multiple N-glycosylation sites. The gene was shown to be expressed primarily in brain and liver, and at a lower level in heart and stomach. It was also found to be expressed in several cancer cell lines, but not in the corresponding normal tissues. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2009] Expression Biased expression in small intestine (RPKM 32.9), duodenum (RPKM 31.2) and 7 other tissues See more Orthologs mouse all
PTPRJ, Official Symbol PTPRJprovided by HGNC Official Full Name protein tyrosine phosphatase receptor type Jprovided by HGNC Primary source HGNC:HGNC:9673 See related Ensembl:ENSG00000149177 MIM:600925; AllianceGenome:HGNC:9673 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 DEP1; SCC1; CD148; THC10; HPTPeta; R-PTP-J; HPTP eta; R-PTP-ETA Summary The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes, including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP possesses an extracellular region containing five fibronectin type III repeats, a single transmembrane region, and a single intracytoplasmic catalytic domain, and thus represents a receptor-type PTP. This protein is present in all hematopoietic lineages, and was shown to negatively regulate T cell receptor signaling possibly through interfering with the phosphorylation of Phospholipase C Gamma 1 and Linker for Activation of T Cells. This protein can also dephosphorylate the PDGF beta receptor, and may be involved in UV-induced signal transduction. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] Expression Broad expression in thyroid (RPKM 11.4), appendix (RPKM 10.8) and 25 other tissues See more Orthologs mouse all
PTPRK, Official Symbol PTPRKprovided by HGNC Official Full Name protein tyrosine phosphatase receptor type Kprovided by HGNC Primary source HGNC:HGNC:9674 See related Ensembl:ENSG00000152894 MIM:602545; AllianceGenome:HGNC:9674 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 R-PTP-kappa Summary The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP possesses an extracellular region, a single transmembrane region, and two tandem catalytic domains, and thus represents a receptor-type PTP. The extracellular region contains a meprin-A5 antigen-PTP mu (MAM) domain, an Ig-like domain and four fibronectin type III-like repeats. This PTP was shown to mediate homophilic intercellular interaction, possibly through the interaction with beta- and gamma-catenin at adherens junctions. Expression of this gene was found to be stimulated by TGF-beta 1, which may be important for the inhibition of keratinocyte proliferation. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in gall bladder (RPKM 16.8), colon (RPKM 13.7) and 24 other tissues See more Orthologs mouse all
PTPRM, Official Symbol PTPRMprovided by HGNC Official Full Name protein tyrosine phosphatase receptor type Mprovided by HGNC Primary source HGNC:HGNC:9675 See related Ensembl:ENSG00000173482 MIM:176888; AllianceGenome:HGNC:9675 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 RPTPM; RPTPU; PTPRL1; hR-PTPu; R-PTP-MU Summary The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP possesses an extracellular region, a single transmembrane region, and two tandem catalytic domains, and thus represents a receptor-type PTP. The extracellular region contains a meprin-A5 antigen-PTP mu (MAM) domain, an Ig-like domain and four fibronectin type III-like repeats. This PTP has been shown to mediate cell-cell aggregation through the interaction with another molecule of this PTP on an adjacent cell. This PTP can interact with scaffolding protein RACK1/GNB2L1, which may be necessary for the downstream signaling in response to cell-cell adhesion. Alternative splicing results in multiple transcripts encoding distinct isoforms. [provided by RefSeq, Jul 2008] Expression Broad expression in fat (RPKM 28.8), thyroid (RPKM 25.6) and 23 other tissues See more Orthologs mouse all
PTPRN, Official Symbol PTPRNprovided by HGNC Official Full Name protein tyrosine phosphatase receptor type Nprovided by HGNC Primary source HGNC:HGNC:9676 See related Ensembl:ENSG00000054356 MIM:601773; AllianceGenome:HGNC:9676 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 IA2; IA-2; ICA512; R-PTP-N; IA-2/PTP Summary The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP possesses an extracellular region, a single transmembrane region, and a single catalytic domain, and thus represents a receptor-type PTP. This PTP was found to be an autoantigen that is reactive with insulin-dependent diabetes mellitus (IDDM) patient sera, and thus may be a potential target of autoimmunity in diabetes mellitus. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Dec 2010] Expression Biased expression in brain (RPKM 53.0), adrenal (RPKM 12.2) and 2 other tissues See more Orthologs mouse all
PTPRN2, Official Symbol PTPRN2provided by HGNC Official Full Name protein tyrosine phosphatase receptor type N2provided by HGNC Primary source HGNC:HGNC:9677 See related Ensembl:ENSG00000155093 MIM:601698; AllianceGenome:HGNC:9677 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 IAR; ICAAR; PTPRP; IA-2beta; R-PTP-N2 Summary This gene encodes a protein with sequence similarity to receptor-like protein tyrosine phosphatases. However, tyrosine phosphatase activity has not been experimentally validated for this protein. Studies of the rat ortholog suggest that the encoded protein may instead function as a phosphatidylinositol phosphatase with the ability to dephosphorylate phosphatidylinositol 3-phosphate and phosphatidylinositol 4,5-diphosphate, and this function may be involved in the regulation of insulin secretion. This protein has been identified as an autoantigen in insulin-dependent diabetes mellitus. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2015] Expression Broad expression in brain (RPKM 7.2), stomach (RPKM 4.9) and 18 other tissues See more Orthologs mouse all
PTPRN2-AS1, Official Symbol PTPRN2-AS1provided by HGNC Official Full Name PTPRN2 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:40488 See related AllianceGenome:HGNC:40488 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Expression Broad expression in lung (RPKM 1.4), spleen (RPKM 1.3) and 18 other tissues See more
PTPRO, Official Symbol PTPROprovided by HGNC Official Full Name protein tyrosine phosphatase receptor type Oprovided by HGNC Primary source HGNC:HGNC:9678 See related Ensembl:ENSG00000151490 MIM:600579; AllianceGenome:HGNC:9678 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 NPHS6; PTPU2; GLEPP1; PTP-OC; PTP-U2; PTPROT; R-PTP-O Summary This gene encodes a member of the R3 subtype family of receptor-type protein tyrosine phosphatases. These proteins are localized to the apical surface of polarized cells and may have tissue-specific functions through activation of Src family kinases. This gene contains two distinct promoters, and alternatively spliced transcript variants encoding multiple isoforms have been observed. The encoded proteins may have multiple isoform-specific and tissue-specific functions, including the regulation of osteoclast production and activity, inhibition of cell proliferation and facilitation of apoptosis. This gene is a candidate tumor suppressor, and decreased expression of this gene has been observed in several types of cancer. [provided by RefSeq, May 2011] Expression Biased expression in kidney (RPKM 3.7), brain (RPKM 2.7) and 11 other tissues See more Orthologs mouse all
PTPRQ, Official Symbol PTPRQprovided by HGNC Official Full Name protein tyrosine phosphatase receptor type Qprovided by HGNC Primary source HGNC:HGNC:9679 See related Ensembl:ENSG00000139304 MIM:603317; AllianceGenome:HGNC:9679 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 DFNA73; DFNB84; DFNB84A; PTPGMC1; R-PTP-Q Summary This locus encodes a member of the type III receptor-like protein-tyrosine phosphatase family. The encoded protein catalyzes the dephosphorylation of phosphotyrosine and phosphatidylinositol and plays roles in cellular proliferation and differentiation. Mutations at this locus have been linked to autosomal recessive deafness. [provided by RefSeq, Mar 2014] Expression Biased expression in fat (RPKM 1.2), lung (RPKM 1.0) and 9 other tissues See more Orthologs mouse all
PTPRR, Official Symbol PTPRRprovided by HGNC Official Full Name protein tyrosine phosphatase receptor type Rprovided by HGNC Primary source HGNC:HGNC:9680 See related Ensembl:ENSG00000153233 MIM:602853; AllianceGenome:HGNC:9680 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 PTPRQ; EC-PTP; PCPTP1; PTP-SL; PTPBR7 Summary The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP possesses an extracellular region, a single transmembrane region, and a single intracellular catalytic domain, and thus represents a receptor-type PTP. Silencing of this gene has been associated with colorectal cancer. Multiple transcript variants encoding different isoforms have been found for this gene. This gene shares a symbol (PTPRQ) with another gene, protein tyrosine phosphatase, receptor type, Q (GeneID 374462), which is also located on chromosome 12. [provided by RefSeq, May 2011] Expression Biased expression in brain (RPKM 5.7), colon (RPKM 3.2) and 11 other tissues See more Orthologs mouse all
PTPRS, Official Symbol PTPRSprovided by HGNC Official Full Name protein tyrosine phosphatase receptor type Sprovided by HGNC Primary source HGNC:HGNC:9681 See related Ensembl:ENSG00000105426 MIM:601576; AllianceGenome:HGNC:9681 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 R-PTP-S; PTPSIGMA; R-PTP-sigma Summary The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP contains an extracellular region, a single transmembrane segment and two tandem intracytoplasmic catalytic domains, and thus represents a receptor-type PTP. The extracellular region of this protein is composed of multiple Ig-like and fibronectin type III-like domains. Studies of the similar gene in mice suggested that this PTP may be involved in cell-cell interaction, primary axonogenesis, and axon guidance during embryogenesis. This PTP has been also implicated in the molecular control of adult nerve repair. Four alternatively spliced transcript variants, which encode distinct proteins, have been reported. [provided by RefSeq, Jul 2008] Expression Broad expression in fat (RPKM 30.9), brain (RPKM 23.8) and 23 other tissues See more Orthologs mouse all
PTPRT, Official Symbol PTPRTprovided by HGNC Official Full Name protein tyrosine phosphatase receptor type Tprovided by HGNC Primary source HGNC:HGNC:9682 See related Ensembl:ENSG00000196090 MIM:608712; AllianceGenome:HGNC:9682 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 R-PTP-T; RPTPrho; RPTP-rho Summary The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP possesses an extracellular region, a single transmembrane region, and two tandem intracellular catalytic domains, and thus represents a receptor-type PTP. The extracellular region contains a meprin-A5 antigen-PTP (MAM) domain, Ig-like and fibronectin type III-like repeats. The protein domain structure and the expression pattern of the mouse counterpart of this PTP suggest its roles in both signal transduction and cellular adhesion in the central nervous system. Two alternatively spliced transcript variants of this gene, which encode distinct proteins, have been reported. [provided by RefSeq, Jul 2008] Expression Biased expression in brain (RPKM 9.9) and placenta (RPKM 1.1) See more Orthologs mouse all
PTPRT-AS1, Official Symbol PTPRT-AS1provided by HGNC Official Full Name PTPRT antisense RNA 1provided by HGNC Primary source HGNC:HGNC:40491 See related Ensembl:ENSG00000227599 AllianceGenome:HGNC:40491 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
PTPRU, Official Symbol PTPRUprovided by HGNC Official Full Name protein tyrosine phosphatase receptor type Uprovided by HGNC Primary source HGNC:HGNC:9683 See related Ensembl:ENSG00000060656 MIM:602454; AllianceGenome:HGNC:9683 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 FMI; PTP; PCP-2; PTP-J; PTPRO; PTPU2; PTP-PI; PTP-RO; PTPPSI; hPTP-J; R-PTP-U; R-PTP-PSI Summary The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP possesses an extracellular region, a single transmembrane region, and two tandem intracellular catalytic domains, and thus represents a receptor-type PTP. The extracellular region contains a meprin-A5 antigen-PTP (MAM) domain, Ig-like and fibronectin type III-like repeats. This PTP was thought to play roles in cell-cell recognition and adhesion. Studies of the similar gene in mice suggested the role of this PTP in early neural development. The expression of this gene was reported to be regulated by phorbol myristate acetate (PMA) or calcium ionophore in Jurkat T lymphoma cells. Alternatively spliced transcript variants have been reported. [provided by RefSeq, Aug 2010] Expression Broad expression in placenta (RPKM 9.6), lung (RPKM 7.2) and 21 other tissues See more Orthologs mouse all
PTPRVP, Official Symbol PTPRVPprovided by HGNC Official Full Name protein tyrosine phosphatase receptor type V, pseudogeneprovided by HGNC Primary source HGNC:HGNC:13421 See related Ensembl:ENSG00000243323 AllianceGenome:HGNC:13421 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 ESP; PTPRV; OST-PTP Expression Biased expression in testis (RPKM 1.9), duodenum (RPKM 0.2) and 7 other tissues See more
PTPRZ1, Official Symbol PTPRZ1provided by HGNC Official Full Name protein tyrosine phosphatase receptor type Z1provided by HGNC Primary source HGNC:HGNC:9685 See related Ensembl:ENSG00000106278 MIM:176891; AllianceGenome:HGNC:9685 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 PTPZ; HPTPZ; PTP18; PTPRZ; RPTPB; HPTPzeta; PTP-ZETA; RPTPbeta; phosphacan; R-PTP-zeta-2 Summary This gene encodes a member of the receptor protein tyrosine phosphatase family. Expression of this gene is restricted to the central nervous system (CNS), and it may be involved in the regulation of specific developmental processes in the CNS. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, May 2011] Expression Biased expression in brain (RPKM 103.2) and skin (RPKM 10.8) See more Orthologs mouse all
PTRH1, Official Symbol PTRH1provided by HGNC Official Full Name peptidyl-tRNA hydrolase 1 homologprovided by HGNC Primary source HGNC:HGNC:27039 See related Ensembl:ENSG00000187024 AllianceGenome:HGNC:27039 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 PTH1; C9orf115 Summary Enables RNA binding activity. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in kidney (RPKM 2.9), testis (RPKM 2.7) and 25 other tissues See more Orthologs mouse all
PTRH2, Official Symbol PTRH2provided by HGNC Official Full Name peptidyl-tRNA hydrolase 2provided by HGNC Primary source HGNC:HGNC:24265 See related Ensembl:ENSG00000141378 MIM:608625; AllianceGenome:HGNC:24265 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 PTH; BIT1; PTH2; PTH 2; CFAP37; IMNEPD; CGI-147 Summary The protein encoded by this gene is a mitochondrial protein with two putative domains, an N-terminal mitochondrial localization sequence, and a UPF0099 domain. In vitro assays suggest that this protein possesses peptidyl-tRNA hydrolase activity, to release the peptidyl moiety from tRNA, thereby preventing the accumulation of dissociated peptidyl-tRNA that could reduce the efficiency of translation. This protein also plays a role regulating cell survival and death. It promotes survival as part of an integrin-signaling pathway for cells attached to the extracellular matrix (ECM), but also promotes apoptosis in cells that have lost their attachment to the ECM, a process called anoikos. After loss of cell attachment to the ECM, this protein is phosphorylated, is released from the mitochondria into the cytosol, and promotes caspase-independent apoptosis through interactions with transcriptional regulators. This gene has been implicated in the development and progression of tumors, and mutations in this gene have been associated with an infantile multisystem neurologic, endocrine, and pancreatic disease (INMEPD) characterized by intellectual disability, postnatal microcephaly, progressive cerebellar atrophy, hearing impairment, polyneuropathy, failure to thrive, and organ fibrosis with exocrine pancreas insufficiency (PMID: 25574476). Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2015] Expression Ubiquitous expression in adrenal (RPKM 4.1), testis (RPKM 3.9) and 25 other tissues See more Orthologs mouse all
PTRHD1, Official Symbol PTRHD1provided by HGNC Official Full Name peptidyl-tRNA hydrolase domain containing 1provided by HGNC Primary source HGNC:HGNC:33782 See related Ensembl:ENSG00000184924 MIM:617342; AllianceGenome:HGNC:33782 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 C2orf79 Summary This gene encodes the enzyme peptidyl-tRNA hydrolase. Peptidyl-tRNA hydrolases perform the essential function of recycling peptidyl-tRNAs. Mutations in this gene are associated with autosomal-recessive intellectual disability and parkinsonism. [provided by RefSeq, May 2017] Expression Ubiquitous expression in colon (RPKM 17.4), testis (RPKM 17.2) and 25 other tissues See more Orthologs mouse all
PTS, Official Symbol PTSprovided by HGNC Official Full Name 6-pyruvoyltetrahydropterin synthaseprovided by HGNC Primary source HGNC:HGNC:9689 See related Ensembl:ENSG00000150787 MIM:612719; AllianceGenome:HGNC:9689 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 PTPS Summary The enzyme encoded by this gene catalyzes the elimination of inorganic triphosphate from dihydroneopterin triphosphate, which is the second and irreversible step in the biosynthesis of tetrahydrobiopterin from GTP. Tetrahydrobiopterin, also known as BH(4), is an essential cofactor and regulator of various enzyme activities, including enzymes involved in serotonin biosynthesis and NO synthase activity. Mutations in this gene result in hyperphenylalaninemia. [provided by RefSeq, Oct 2008] Expression Ubiquitous expression in adrenal (RPKM 23.3), kidney (RPKM 11.8) and 25 other tissues See more Orthologs mouse all
PTTG1, Official Symbol PTTG1provided by HGNC Official Full Name PTTG1 regulator of sister chromatid separation, securinprovided by HGNC Primary source HGNC:HGNC:9690 See related Ensembl:ENSG00000164611 MIM:604147; AllianceGenome:HGNC:9690 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 EAP1; PTTG; ECRAR; HPTTG; TUTR1 Summary The encoded protein is a homolog of yeast securin proteins, which prevent separins from promoting sister chromatid separation. It is an anaphase-promoting complex (APC) substrate that associates with a separin until activation of the APC. The gene product has transforming activity in vitro and tumorigenic activity in vivo, and the gene is highly expressed in various tumors. The gene product contains 2 PXXP motifs, which are required for its transforming and tumorigenic activities, as well as for its stimulation of basic fibroblast growth factor expression. It also contains a destruction box (D box) that is required for its degradation by the APC. The acidic C-terminal region of the encoded protein can act as a transactivation domain. The gene product is mainly a cytosolic protein, although it partially localizes in the nucleus. Three transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Sep 2013] Expression Biased expression in testis (RPKM 44.0), bone marrow (RPKM 29.1) and 12 other tissues See more Orthologs mouse all
PTTG1IP, Official Symbol PTTG1IPprovided by HGNC Official Full Name PTTG1 interacting proteinprovided by HGNC Primary source HGNC:HGNC:13524 See related Ensembl:ENSG00000183255 MIM:603784; AllianceGenome:HGNC:13524 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 PBF; C21orf1; C21orf3; PTTG1IP1 Summary This gene encodes a single-pass type I integral membrane protein, which binds to pituitary tumor-transforming 1 protein (PTTG1), and facilitates translocation of PTTG1 into the nucleus. Coexpression of this protein and PTTG1 induces transcriptional activation of basic fibroblast growth factor. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Nov 2013] Expression Ubiquitous expression in placenta (RPKM 104.1), gall bladder (RPKM 88.0) and 25 other tissues See more Orthologs mouse all
PTTG1IP2, Official Symbol PTTG1IP2provided by HGNC Official Full Name PTTG1IP family member 2provided by HGNC Primary source HGNC:HGNC:55318 See related Ensembl:ENSG00000251154 AllianceGenome:HGNC:55318 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 be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in testis (RPKM 2.5), colon (RPKM 1.3) and 21 other tissues See more Orthologs mouse mouse all all
PTTG2, Official Symbol PTTG2provided by HGNC Official Full Name pituitary tumor-transforming 2provided by HGNC Primary source HGNC:HGNC:9691 See related Ensembl:ENSG00000250254 MIM:604231; AllianceGenome:HGNC:9691 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 SH3 domain binding activity. Predicted to be involved in homologous chromosome segregation and negative regulation of mitotic sister chromatid separation. Predicted to be located in cytoplasm. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Apr 2022] Orthologs all
PTTG3P, Official Symbol PTTG3Pprovided by HGNC Official Full Name pituitary tumor-transforming 3, pseudogeneprovided by HGNC Primary source HGNC:HGNC:13422 See related Ensembl:ENSG00000213005 AllianceGenome:HGNC:13422 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 PTTG3; PTTG1P3; rcPTTG1 Summary Predicted to enable SH3 domain binding activity. Predicted to be involved in homologous chromosome segregation and negative regulation of mitotic sister chromatid separation. Predicted to be located in cytoplasm. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Apr 2022]
PTX3, Official Symbol PTX3provided by HGNC Official Full Name pentraxin 3provided by HGNC Primary source HGNC:HGNC:9692 See related Ensembl:ENSG00000163661 MIM:602492; AllianceGenome:HGNC:9692 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 TSG-14; TNFAIP5 Summary This gene encodes a member of the pentraxin protein family. The expression of this protein is induced by inflammatory cytokines in response to inflammatory stimuli in several mesenchymal and epithelial cell types, particularly endothelial cells and mononuclear phagocytes. The protein promotes fibrocyte differentiation and is involved in regulating inflammation and complement activation. It also plays a role in angiogenesis and tissue remodeling. The protein serves as a biomarker for several inflammatory conditions. [provided by RefSeq, Jun 2016] Expression Biased expression in bone marrow (RPKM 32.2), appendix (RPKM 24.8) and 6 other tissues See more Orthologs mouse all
PTX4, Official Symbol PTX4provided by HGNC Official Full Name pentraxin 4provided by HGNC Primary source HGNC:HGNC:14171 See related Ensembl:ENSG00000251692 MIM:613442; AllianceGenome:HGNC:14171 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 C16orf38 Summary This gene belongs to the pentraxin superfamily, whose members encode highly conserved multifunctional proteins. The encoded protein, like other members of this family, contains a conserved pentraxin domain at the C-terminus. The highest levels of expression of the protein were observed in bone marrow, small intestine and testes. [provided by RefSeq, Jun 2016] Expression Low expression observed in reference dataset See more Orthologs mouse all
PUDP, Official Symbol PUDPprovided by HGNC Official Full Name pseudouridine 5'-phosphataseprovided by HGNC Primary source HGNC:HGNC:16818 See related Ensembl:ENSG00000130021 MIM:306480; AllianceGenome:HGNC:16818 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 GS1; HDHD1; HDHD1A; FAM16AX; DXF68S1E Summary This gene encodes a member of the haloacid dehalogenase-like (HAD) hydrolase superfamily. The encoded protein has no known biological function. This gene has a pseudogene on chromosome 1. Multiple alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2010] Expression Ubiquitous expression in placenta (RPKM 6.4), colon (RPKM 5.4) and 25 other tissues See more Orthologs mouse all
PUDPP2, Official Symbol PUDPP2provided by HGNC Official Full Name pseudouridine 5'-phosphatase pseudogene 2provided by HGNC Primary source HGNC:HGNC:20195 See related AllianceGenome:HGNC:20195 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 FAM16B; HDHD1CP; HDHD1P2
PUDPP3, Official Symbol PUDPP3provided by HGNC Official Full Name pseudouridine 5'-phosphatase pseudogene 3provided by HGNC Primary source HGNC:HGNC:38118 See related Ensembl:ENSG00000214245 AllianceGenome:HGNC:38118 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 HDHD1DP; HDHD1P3
PUF60, Official Symbol PUF60provided by HGNC Official Full Name poly(U) binding splicing factor 60provided by HGNC Primary source HGNC:HGNC:17042 See related Ensembl:ENSG00000179950 MIM:604819; AllianceGenome:HGNC:17042 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 FIR; VRJS; RoBPI; SIAHBP1 Summary This gene encodes a nucleic acid-binding protein that plays a role in a variety of nuclear processes, including pre-mRNA splicing and transcriptional regulation. The encoded protein forms a complex with the far upstream DNA element (FUSE) and FUSE-binding protein at the myelocytomatosis oncogene (MYC) promoter. This complex represses MYC transcription through the core-TFIIH basal transcription factor. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Aug 2012] Expression Ubiquitous expression in brain (RPKM 18.5), testis (RPKM 17.6) and 25 other tissues See more Orthologs mouse all
PUM1, Official Symbol PUM1provided by HGNC Official Full Name pumilio RNA binding family member 1provided by HGNC Primary source HGNC:HGNC:14957 See related Ensembl:ENSG00000134644 MIM:607204; AllianceGenome:HGNC:14957 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 PUMH; HSPUM; PUMH1; PUML1; SCA47 Summary This gene encodes a member of the PUF family, evolutionarily conserved RNA-binding proteins related to the Pumilio proteins of Drosophila and the fem-3 mRNA binding factor proteins of C. elegans. The encoded protein contains a sequence-specific RNA binding domain comprised of eight repeats and N- and C-terminal flanking regions, and serves as a translational regulator of specific mRNAs by binding to their 3' untranslated regions. The evolutionarily conserved function of the encoded protein in invertebrates and lower vertebrates suggests that the human protein may be involved in translational regulation of embryogenesis, and cell development and differentiation. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in thyroid (RPKM 21.8), ovary (RPKM 19.8) and 25 other tissues See more Orthologs mouse all
PUM2, Official Symbol PUM2provided by HGNC Official Full Name pumilio RNA binding family member 2provided by HGNC Primary source HGNC:HGNC:14958 See related Ensembl:ENSG00000055917 MIM:607205; AllianceGenome:HGNC:14958 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 PUMH2; PUML2 Summary This gene encodes a protein that belongs to a family of RNA-binding proteins. The encoded protein functions as a translational repressor during embryonic development and cell differentiation. This protein is also thought to be a positive regulator of cell proliferation in adipose-derived stem cells. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013] Expression Ubiquitous expression in thyroid (RPKM 13.0), lymph node (RPKM 9.6) and 25 other tissues See more Orthologs mouse all
PUM3, Official Symbol PUM3provided by HGNC Official Full Name pumilio RNA binding family member 3provided by HGNC Primary source HGNC:HGNC:29676 See related Ensembl:ENSG00000080608 MIM:609960; AllianceGenome:HGNC:29676 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 PEN; HA-8; PUF6; XTP5; PUF-A; HLA-HA8; KIAA0020 Summary Enables RNA binding activity. Involved in regulation of protein ADP-ribosylation. Located in chromosome; endoplasmic reticulum; and nuclear lumen. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in appendix (RPKM 13.1), lymph node (RPKM 11.9) and 25 other tissues See more Orthologs mouse all
PURA, Official Symbol PURAprovided by HGNC Official Full Name purine rich element binding protein Aprovided by HGNC Primary source HGNC:HGNC:9701 See related Ensembl:ENSG00000185129 MIM:600473; AllianceGenome:HGNC:9701 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 PUR1; MRD31; NEDRIHF; PURALPHA; PUR-ALPHA Summary This gene product is a sequence-specific, single-stranded DNA-binding protein. It binds preferentially to the single strand of the purine-rich element termed PUR, which is present at origins of replication and in gene flanking regions in a variety of eukaryotes from yeasts through humans. Thus, it is implicated in the control of both DNA replication and transcription. Deletion of this gene has been associated with myelodysplastic syndrome and acute myelogenous leukemia. [provided by RefSeq, Jul 2008] Orthologs mouse all
PURB, Official Symbol PURBprovided by HGNC Official Full Name purine rich element binding protein Bprovided by HGNC Primary source HGNC:HGNC:9702 See related Ensembl:ENSG00000146676 MIM:608887; AllianceGenome:HGNC:9702 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 PURBETA Summary This gene product is a sequence-specific, single-stranded DNA-binding protein. It binds preferentially to the single strand of the purine-rich element termed PUR, which is present at origins of replication and in gene flanking regions in a variety of eukaryotes from yeasts through humans. Thus, it is implicated in the control of both DNA replication and transcription. Deletion of this gene has been associated with myelodysplastic syndrome and acute myelogenous leukemia. [provided by RefSeq, Jul 2008] Orthologs mouse all
PURG, Official Symbol PURGprovided by HGNC Official Full Name purine rich element binding protein Gprovided by HGNC Primary source HGNC:HGNC:17930 See related Ensembl:ENSG00000172733 MIM:618041; AllianceGenome:HGNC:17930 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 PURGA; PURGB; PURG-A; PURG-B Summary The exact function of this gene is not known, however, its encoded product is highly similar to purine-rich element binding protein A. The latter is a DNA-binding protein which binds preferentially to the single strand of the purine-rich element termed PUR, and has been implicated in the control of both DNA replication and transcription. This gene lies in close proximity to the Werner syndrome gene, but on the opposite strand, on chromosome 8p11. [provided by RefSeq, Apr 2016] Expression Biased expression in brain (RPKM 1.4), testis (RPKM 1.1) and 12 other tissues See more Orthologs mouse all
PURPL, Official Symbol PURPLprovided by HGNC Official Full Name p53 upregulated regulator of p53 levelsprovided by HGNC Primary source HGNC:HGNC:48995 See related Ensembl:ENSG00000250337 AllianceGenome:HGNC:48995 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 LINC01021 Expression Low expression observed in reference dataset See more
PUS1, Official Symbol PUS1provided by HGNC Official Full Name pseudouridine synthase 1provided by HGNC Primary source HGNC:HGNC:15508 See related Ensembl:ENSG00000177192 MIM:608109; AllianceGenome:HGNC:15508 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 MLASA1 Summary This gene encodes a pseudouridine synthase that converts uridine to pseudouridine once it has been incorporated into an RNA molecule. The encoded enzyme may play an essential role in tRNA function and in stabilizing the secondary and tertiary structure of many RNAs. A mutation in this gene has been linked to mitochondrial myopathy and sideroblastic anemia. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Sep 2009] Expression Ubiquitous expression in appendix (RPKM 5.5), lymph node (RPKM 5.4) and 25 other tissues See more Orthologs mouse all