psui3905/ncbi_genes_summary huggingface dataset:
PRKX, Official Symbol PRKXprovided by HGNC Official Full Name protein kinase cAMP-dependent X-linked catalytic subunitprovided by HGNC Primary source HGNC:HGNC:9441 See related Ensembl:ENSG00000183943 MIM:300083; AllianceGenome:HGNC:9441 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 PKX1 Summary This gene encodes a serine threonine protein kinase that has similarity to the catalytic subunit of cyclic AMP dependent protein kinases. The encoded protein is developmentally regulated and may be involved in renal epithelial morphogenesis. This protein may also be involved in macrophage and granulocyte maturation. Abnormal recombination between this gene and a related pseudogene on chromosome Y is a frequent cause of sex reversal disorder in XX males and XY females. Pseudogenes of this gene are found on chromosomes X, 15 and Y. [provided by RefSeq, Feb 2010] Expression Broad expression in thyroid (RPKM 22.9), kidney (RPKM 7.3) and 20 other tissues See more Orthologs mouse all
PRKX-AS1, Official Symbol PRKX-AS1provided by HGNC Official Full Name PRKX antisense RNA 1provided by HGNC Primary source HGNC:HGNC:40479 See related Ensembl:ENSG00000236188 AllianceGenome:HGNC:40479 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
PRKXP1, Official Symbol PRKXP1provided by HGNC Official Full Name PRKX pseudogene 1provided by HGNC Primary source HGNC:HGNC:9442 See related AllianceGenome:HGNC:9442 Gene type pseudo RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
PRKY, Official Symbol PRKYprovided by HGNC Official Full Name protein kinase Y-linked (pseudogene)provided by HGNC Primary source HGNC:HGNC:9444 See related Ensembl:ENSG00000099725 MIM:400008; AllianceGenome:HGNC:9444 Gene type pseudo RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as PRKYP; PRKXP3 Summary This gene is similar to the protein kinase, X-linked gene in the pseudoautosomal region of the X chromosome. The gene is classified as a transcribed pseudogene because it has lost a coding exon that results in all transcripts being candidates for nonsense-mediated decay (NMD) and unlikely to express a protein. Abnormal recombination between this gene and a related gene on chromosome X is a frequent cause of XX males and XY females. [provided by RefSeq, Jul 2010] Expression Broad expression in skin (RPKM 2.8), prostate (RPKM 1.9) and 19 other tissues See more
PRL, Official Symbol PRLprovided by HGNC Official Full Name prolactinprovided by HGNC Primary source HGNC:HGNC:9445 See related Ensembl:ENSG00000172179 MIM:176760; AllianceGenome:HGNC:9445 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 GHA1 Summary This gene encodes the anterior pituitary hormone prolactin. This secreted hormone is a growth regulator for many tissues, including cells of the immune system. It may also play a role in cell survival by suppressing apoptosis, and it is essential for lactation. Alternative splicing results in multiple transcript variants that encode the same protein. [provided by RefSeq, Aug 2011] Expression Biased expression in placenta (RPKM 13.9) and endometrium (RPKM 5.4) See more Orthologs all
PRLH, Official Symbol PRLHprovided by HGNC Official Full Name prolactin releasing hormoneprovided by HGNC Primary source HGNC:HGNC:17945 See related Ensembl:ENSG00000071677 MIM:602663; AllianceGenome:HGNC:17945 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 PRH; PRRP Summary Predicted to enable neuropeptide hormone activity and prolactin-releasing peptide receptor binding activity. Predicted to be involved in G protein-coupled receptor signaling pathway; feeding behavior; and response to peptide hormone. Predicted to act upstream of or within several processes, including energy reserve metabolic process; fat cell differentiation; and reduction of food intake in response to dietary excess. Predicted to be located in extracellular region. [provided by Alliance of Genome Resources, Apr 2022] Expression Low expression observed in reference dataset See more Orthologs mouse all
PRLHR, Official Symbol PRLHRprovided by HGNC Official Full Name prolactin releasing hormone receptorprovided by HGNC Primary source HGNC:HGNC:4464 See related Ensembl:ENSG00000119973 MIM:600895; AllianceGenome:HGNC:4464 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 GR3; GPR10; PrRPR Summary Predicted to enable neuropeptide receptor activity. Predicted to be involved in female pregnancy. Predicted to act upstream of or within G protein-coupled receptor signaling pathway; feeding behavior; and hormone metabolic process. Located in cilium. Implicated in hypertension. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in adrenal (RPKM 3.6), endometrium (RPKM 1.7) and 1 other tissue See more Orthologs mouse all
PRLR, Official Symbol PRLRprovided by HGNC Official Full Name prolactin receptorprovided by HGNC Primary source HGNC:HGNC:9446 See related Ensembl:ENSG00000113494 MIM:176761; AllianceGenome:HGNC:9446 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 HPRL; MFAB; hPRLrI; RI-PRLR Summary This gene encodes a receptor for the anterior pituitary hormone, prolactin, and belongs to the type I cytokine receptor family. Prolactin-dependent signaling occurs as the result of ligand-induced dimerization of the prolactin receptor. Several alternatively spliced transcript variants encoding different membrane-bound and soluble isoforms have been described for this gene, which may function to modulate the endocrine and autocrine effects of prolactin in normal tissue and cancer. [provided by RefSeq, Feb 2011] Expression Biased expression in placenta (RPKM 18.9), endometrium (RPKM 11.6) and 8 other tissues See more Orthologs mouse all
PRM1, Official Symbol PRM1provided by HGNC Official Full Name protamine 1provided by HGNC Primary source HGNC:HGNC:9447 See related Ensembl:ENSG00000175646 MIM:182880; AllianceGenome:HGNC:9447 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 P1; CT94.1 Summary Predicted to enable DNA binding activity. Predicted to be involved in DNA packaging. Predicted to act upstream of or within nucleus organization and spermatid development. Located in cytosol and nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Restricted expression toward testis (RPKM 2212.7) See more Orthologs mouse all
PRM2, Official Symbol PRM2provided by HGNC Official Full Name protamine 2provided by HGNC Primary source HGNC:HGNC:9448 See related Ensembl:ENSG00000122304 MIM:182890; AllianceGenome:HGNC:9448 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 CT94.2 Summary Protamines substitute for histones in the chromatin of sperm during the haploid phase of spermatogenesis, and are the major DNA-binding proteins in the nucleus of sperm in many vertebrates. They package the sperm DNA into a highly condensed complex in a volume less than 5% of a somatic cell nucleus. Many mammalian species have only one protamine (protamine 1); however, a few species, including human and mouse, have two. This gene encodes protamine 2, which is cleaved to give rise to a family of protamine 2 peptides. Alternatively spliced transcript variants have also been found for this gene. [provided by RefSeq, Sep 2015] Expression Restricted expression toward testis (RPKM 2357.8) See more Orthologs mouse all
PRM3, Official Symbol PRM3provided by HGNC Official Full Name protamine 3provided by HGNC Primary source HGNC:HGNC:13732 See related Ensembl:ENSG00000178257 AllianceGenome:HGNC:13732 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 DNA binding activity. Predicted to be involved in flagellated sperm motility. Predicted to be located in nucleus. Predicted to be part of nucleosome. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Apr 2022] Orthologs mouse all
PRMT1, Official Symbol PRMT1provided by HGNC Official Full Name protein arginine methyltransferase 1provided by HGNC Primary source HGNC:HGNC:5187 See related Ensembl:ENSG00000126457 MIM:602950; AllianceGenome:HGNC:5187 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 ANM1; HCP1; IR1B4; HRMT1L2 Summary This gene encodes a member of the protein arginine N-methyltransferase (PRMT) family. Post-translational modification of target proteins by PRMTs plays an important regulatory role in many biological processes, whereby PRMTs methylate arginine residues by transferring methyl groups from S-adenosyl-L-methionine to terminal guanidino nitrogen atoms. The encoded protein is a type I PRMT and is responsible for the majority of cellular arginine methylation activity. Increased expression of this gene may play a role in many types of cancer. 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 5. [provided by RefSeq, Dec 2011] Expression Ubiquitous expression in ovary (RPKM 42.8), heart (RPKM 38.0) and 25 other tissues See more Orthologs mouse all
PRMT2, Official Symbol PRMT2provided by HGNC Official Full Name protein arginine methyltransferase 2provided by HGNC Primary source HGNC:HGNC:5186 See related Ensembl:ENSG00000160310 MIM:601961; AllianceGenome:HGNC:5186 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 HRMT1L1 Summary Enables several functions, including nuclear receptor binding activity; peroxisome proliferator activated receptor binding activity; and protein homodimerization activity. Involved in several processes, including histone methylation; regulation of androgen receptor signaling pathway; and regulation of transcription, DNA-templated. Located in cytosol and nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in ovary (RPKM 11.6), spleen (RPKM 8.9) and 25 other tissues See more Orthologs mouse all
PRMT3, Official Symbol PRMT3provided by HGNC Official Full Name protein arginine methyltransferase 3provided by HGNC Primary source HGNC:HGNC:30163 See related Ensembl:ENSG00000185238 MIM:603190; AllianceGenome:HGNC:30163 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 HRMT1L3 Summary This gene belongs to the protein arginine methyltransferase (PRMT) family. The encoded enzyme catalyzes the methylation of guanidino nitrogens of arginyl residues of proteins. The enzyme acts on 40S ribosomal protein S2 (rpS2), which is its major in-vivo substrate, and is involved in the proper maturation of the 80S ribosome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013] Expression Ubiquitous expression in thyroid (RPKM 7.5), brain (RPKM 3.3) and 25 other tissues See more Orthologs mouse all
PRMT5, Official Symbol PRMT5provided by HGNC Official Full Name protein arginine methyltransferase 5provided by HGNC Primary source HGNC:HGNC:10894 See related Ensembl:ENSG00000100462 MIM:604045; AllianceGenome:HGNC:10894 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 HSL7; JBP1; SKB1; IBP72; SKB1Hs; HRMT1L5 Summary This gene encodes an enzyme that belongs to the methyltransferase family. The encoded protein catalyzes the transfer of methyl groups to the amino acid arginine, in target proteins that include histones, transcriptional elongation factors and the tumor suppressor p53. This gene plays a role in several cellular processes, including transcriptional regulation, and the assembly of small nuclear ribonucleoproteins. A pseudogene of this gene has been defined on chromosome 4. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Sep 2015] Expression Ubiquitous expression in thyroid (RPKM 21.2), ovary (RPKM 18.5) and 25 other tissues See more Orthologs mouse all
PRMT6, Official Symbol PRMT6provided by HGNC Official Full Name protein arginine methyltransferase 6provided by HGNC Primary source HGNC:HGNC:18241 See related Ensembl:ENSG00000198890 MIM:608274; AllianceGenome:HGNC:18241 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 HRMT1L6 Summary The protein encoded by this gene belongs to the arginine N-methyltransferase family, which catalyze the sequential transfer of methyl group from S-adenosyl-L-methionine to the side chain nitrogens of arginine residues within proteins, to form methylated arginine derivatives and S-adenosyl-L-homocysteine. This protein can catalyze both, the formation of omega-N monomethylarginine and asymmetrical dimethylarginine, with a strong preference for the latter. It specifically mediates the asymmetric dimethylation of Arg2 of histone H3, and the methylated form represents a specific tag for epigenetic transcriptional repression. This protein also forms a complex with, and methylates DNA polymerase beta, resulting in stimulation of polymerase activity by enhancing DNA binding and processivity. [provided by RefSeq, Sep 2011] Orthologs mouse all
PRMT7, Official Symbol PRMT7provided by HGNC Official Full Name protein arginine methyltransferase 7provided by HGNC Primary source HGNC:HGNC:25557 See related Ensembl:ENSG00000132600 MIM:610087; AllianceGenome:HGNC:25557 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 SBIDDS Summary This gene encodes a member of the protein arginine N-methyltransferase family of proteins. The encoded enzyme transfers single methyl groups to arginine residues to generate monomethylarginines on histone proteins as well as other protein substrates. This enzyme plays a role in a wide range of biological processes, including neuronal differentiation, male germ line imprinting, small nuclear ribonucleoprotein biogenesis, and regulation of the Wnt signaling pathway. Mutations in this gene underlie multiple related syndromes in human patients characterized by intellectual disability, short stature and other features. The encoded protein may promote breast cancer cell invasion and metastasis in human patients. [provided by RefSeq, May 2017] Expression Ubiquitous expression in small intestine (RPKM 5.3), testis (RPKM 5.1) and 25 other tissues See more Orthologs mouse all
PRMT8, Official Symbol PRMT8provided by HGNC Official Full Name protein arginine methyltransferase 8provided by HGNC Primary source HGNC:HGNC:5188 See related Ensembl:ENSG00000111218 MIM:610086; AllianceGenome:HGNC:5188 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 HRMT1L3; HRMT1L4 Summary Arginine methylation is a widespread posttranslational modification mediated by arginine methyltransferases, such as PRMT8. Arginine methylation is involved in a number of cellular processes, including DNA repair, RNA transcription, signal transduction, protein compartmentalization, and possibly protein translation (Lee et al., 2005 [PubMed 16051612]).[supplied by OMIM, Mar 2008] Expression Biased expression in brain (RPKM 5.7), testis (RPKM 0.8) and 1 other tissue See more Orthologs mouse all
PRMT9, Official Symbol PRMT9provided by HGNC Official Full Name protein arginine methyltransferase 9provided by HGNC Primary source HGNC:HGNC:25099 See related Ensembl:ENSG00000164169 MIM:616125; AllianceGenome:HGNC:25099 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 PRMT10 Summary This gene encodes a type II methyltransferase. Post-translational modification of target proteins by PRMTs plays an important regulatory role in many biological processes, whereby PRMTs methylate arginine residues by transferring methyl groups from S-adenosyl-L-methionine to the guanidino nitrogen atoms of arginine. The protein encoded by this gene methylates spliceosome associated protein 145 to regulate alternative splicing and acts as a modulator of small nuclear ribonucleoprotein maturation. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Apr 2017] Expression Ubiquitous expression in adrenal (RPKM 9.7), thyroid (RPKM 7.6) and 25 other tissues See more Orthologs mouse all
PRNCR1, Official Symbol PRNCR1provided by HGNC Official Full Name prostate cancer associated non-coding RNA 1provided by HGNC Primary source HGNC:HGNC:48942 See related Ensembl:ENSG00000282961 MIM:615452; AllianceGenome:HGNC:48942 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 PCAT8; CARLo-3
PRND, Official Symbol PRNDprovided by HGNC Official Full Name prion like protein doppelprovided by HGNC Primary source HGNC:HGNC:15748 See related Ensembl:ENSG00000171864 MIM:604263; AllianceGenome:HGNC:15748 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 DPL; PrPLP; DOPPEL; dJ1068H6.4 Summary This gene is found on chromosome 20, approximately 20 kbp downstream of the gene encoding cellular prion protein, to which it is biochemically and structurally similar. The protein encoded by this gene is a membrane glycosylphosphatidylinositol-anchored glycoprotein that is found predominantly in testis. Mutations in this gene may lead to neurological disorders. [provided by RefSeq, Jul 2008] Expression Restricted expression toward testis (RPKM 54.6) See more Orthologs all
PRNP, Official Symbol PRNPprovided by HGNC Official Full Name prion proteinprovided by HGNC Primary source HGNC:HGNC:9449 See related Ensembl:ENSG00000171867 MIM:176640; AllianceGenome:HGNC:9449 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 CJD; GSS; PrP; ASCR; KURU; PRIP; PrPc; CD230; AltPrP; p27-30; PrP27-30; PrP33-35C Summary The protein encoded by this gene is a membrane glycosylphosphatidylinositol-anchored glycoprotein that tends to aggregate into rod-like structures. The encoded protein contains a highly unstable region of five tandem octapeptide repeats. This gene is found on chromosome 20, approximately 20 kbp upstream of a gene which encodes a biochemically and structurally similar protein to the one encoded by this gene. Mutations in the repeat region as well as elsewhere in this gene have been associated with Creutzfeldt-Jakob disease, fatal familial insomnia, Gerstmann-Straussler disease, Huntington disease-like 1, and kuru. An overlapping open reading frame has been found for this gene that encodes a smaller, structurally unrelated protein, AltPrp. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014] Expression Ubiquitous expression in brain (RPKM 148.7), ovary (RPKM 52.6) and 24 other tissues See more Orthologs mouse all
PRNT, Official Symbol PRNTprovided by HGNC Official Full Name prion locus lncRNA, testis expressedprovided by HGNC Primary source HGNC:HGNC:18046 See related Ensembl:ENSG00000180259 AllianceGenome:HGNC:18046 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 M8 Summary Predicted to be located in extracellular region. [provided by Alliance of Genome Resources, Apr 2022] Expression Restricted expression toward testis (RPKM 3.5) See more
PRO1804, Gene symbol PRO1804 Gene description uncharacterized LOC100133319 See related Ensembl:ENSG00000278873 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
PROB1, Official Symbol PROB1provided by HGNC Official Full Name proline rich basic protein 1provided by HGNC Primary source HGNC:HGNC:41906 See related Ensembl:ENSG00000228672 AllianceGenome:HGNC:41906 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 C5orf65 Summary Located in nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022] Orthologs mouse all
PROC, Official Symbol PROCprovided by HGNC Official Full Name protein C, inactivator of coagulation factors Va and VIIIaprovided by HGNC Primary source HGNC:HGNC:9451 See related Ensembl:ENSG00000115718 MIM:612283; AllianceGenome:HGNC:9451 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 PC; APC; PROC1; THPH3; THPH4 Summary This gene encodes a vitamin K-dependent plasma glycoprotein. The encoded protein is cleaved to its activated form by the thrombin-thrombomodulin complex. This activated form contains a serine protease domain and functions in degradation of the activated forms of coagulation factors V and VIII. Mutations in this gene have been associated with thrombophilia due to protein C deficiency, neonatal purpura fulminans, and recurrent venous thrombosis.[provided by RefSeq, Dec 2009] Annotation information Note: PROC (Gene ID: 5624) and APC (Gene ID: 324) loci share the APC symbol/alias in common. [08 Feb 2019] Expression Biased expression in liver (RPKM 55.9) and kidney (RPKM 6.8) See more Orthologs mouse all
PROCA1, Official Symbol PROCA1provided by HGNC Official Full Name protein interacting with cyclin A1provided by HGNC Primary source HGNC:HGNC:28600 See related Ensembl:ENSG00000167525 MIM:617376; AllianceGenome:HGNC:28600 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 cyclin binding activity. Predicted to be involved in arachidonic acid secretion and phospholipid metabolic process. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in testis (RPKM 33.9) and spleen (RPKM 1.8) See more Orthologs mouse all
PROCR, Official Symbol PROCRprovided by HGNC Official Full Name protein C receptorprovided by HGNC Primary source HGNC:HGNC:9452 See related Ensembl:ENSG00000101000 MIM:600646; AllianceGenome:HGNC:9452 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 CCCA; EPCR; CCD41 Summary The protein encoded by this gene is a receptor for activated protein C, a serine protease activated by and involved in the blood coagulation pathway. The encoded protein is an N-glycosylated type I membrane protein that enhances the activation of protein C. Mutations in this gene have been associated with venous thromboembolism and myocardial infarction, as well as with late fetal loss during pregnancy. The encoded protein may also play a role in malarial infection and has been associated with cancer. [provided by RefSeq, Jul 2013] Expression Ubiquitous expression in placenta (RPKM 14.7), fat (RPKM 10.7) and 24 other tissues See more Orthologs mouse all
PRODH, Official Symbol PRODHprovided by HGNC Official Full Name proline dehydrogenase 1provided by HGNC Primary source HGNC:HGNC:9453 See related Ensembl:ENSG00000100033 Ensembl:ENSG00000277196 MIM:606810; AllianceGenome:HGNC:9453 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 POX; PIG6; HSPOX2; PRODH1; PRODH2; TP53I6 Summary This gene encodes a mitochondrial protein that catalyzes the first step in proline degradation. Mutations in this gene are associated with hyperprolinemia type 1 and susceptibility to schizophrenia 4 (SCZD4). This gene is located on chromosome 22q11.21, a region which has also been associated with the contiguous gene deletion syndromes, DiGeorge and CATCH22. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2010] Expression Biased expression in small intestine (RPKM 24.9), skin (RPKM 13.7) and 11 other tissues See more Orthologs mouse all
PRODH2, Official Symbol PRODH2provided by HGNC Official Full Name proline dehydrogenase 2provided by HGNC Primary source HGNC:HGNC:17325 See related Ensembl:ENSG00000250799 MIM:616377; AllianceGenome:HGNC:17325 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 HYPDH; HSPOX1 Summary The protein encoded by this gene catalyzes the first step in the catabolism of trans-4-hydroxy-L-proline, an amino acid derivative obtained through food intake and collagen turnover. One of the downstream products of this catabolism is glyoxylate, which in people with disorders of glyoxalate metabolism can lead to an increase in oxalate levels and the formation of calcium-oxalate kidney stones. Therefore, this gene may serve as a therapeutic target against primary hyperoxalurias (PH). This gene is similar to proline dehydrogenase (oxidase) 1, a mitochondrial enzyme that catalyzes the first step in proline catabolism. [provided by RefSeq, Jan 2017] Expression Restricted expression toward kidney (RPKM 100.5) See more Orthologs mouse all
PROK1, Official Symbol PROK1provided by HGNC Official Full Name prokineticin 1provided by HGNC Primary source HGNC:HGNC:18454 See related Ensembl:ENSG00000143125 MIM:606233; AllianceGenome:HGNC:18454 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 PK1; PRK1; EGVEGF Summary The protein encoded by this gene induces proliferation, migration, and fenestration (the formation of membrane discontinuities) in capillary endothelial cells derived from endocrine glands. It has little or no effect on a variety of other endothelial and non-endothelial cell types. Its expression is restricted to the steroidogenic glands (ovary, testis, adrenal, and placenta), is induced by hypoxia, and often complementary to the expression of vascular endothelial growth factor (VEGF), suggesting that these molecules function in a coordinated manner. [provided by RefSeq, Sep 2011] Expression Biased expression in ovary (RPKM 72.8), testis (RPKM 51.2) and 2 other tissues See more Orthologs mouse all
PROK2, Official Symbol PROK2provided by HGNC Official Full Name prokineticin 2provided by HGNC Primary source HGNC:HGNC:18455 See related Ensembl:ENSG00000163421 MIM:607002; AllianceGenome:HGNC:18455 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 BV8; HH4; PK2; KAL4; MIT1 Summary This gene encodes a protein expressed in the suprachiasmatic nucleus (SCN) circadian clock that may function as the output component of the circadian clock. The secreted form of the encoded protein may also serve as a chemoattractant for neuronal precursor cells in the olfactory bulb. Proteins from other vertebrates which are similar to this gene product were isolated based on homology to snake venom and secretions from frog skin, and have been shown to have diverse functions. Mutations in this gene are associated with Kallmann syndrome 4. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] Expression Biased expression in bone marrow (RPKM 18.5), appendix (RPKM 9.5) and 4 other tissues See more Orthologs mouse all
PROKR1, Official Symbol PROKR1provided by HGNC Official Full Name prokineticin receptor 1provided by HGNC Primary source HGNC:HGNC:4524 See related Ensembl:ENSG00000169618 MIM:607122; AllianceGenome:HGNC:4524 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 ZAQ; PKR1; GPR73; PK-R1; GPR73a Summary This gene encodes a member of the G-protein-coupled receptor family. The encoded protein binds to prokineticins (1 and 2), leading to the activation of MAPK and STAT signaling pathways. Prokineticins are protein ligands involved in angiogenesis and inflammation. The encoded protein is expressed in peripheral tissues such as those comprising the circulatory system, lungs, reproductive system, endocrine system and the gastrointestinal system. The protein may be involved in signaling in human fetal ovary during initiation of primordial follicle formation. Sequence variants in this gene may be associated with recurrent miscarriage. [provided by RefSeq, Aug 2016] Expression Biased expression in fat (RPKM 1.4), adrenal (RPKM 0.7) and 2 other tissues See more Orthologs mouse all
PROKR2, Official Symbol PROKR2provided by HGNC Official Full Name prokineticin receptor 2provided by HGNC Primary source HGNC:HGNC:15836 See related Ensembl:ENSG00000101292 MIM:607123; AllianceGenome:HGNC:15836 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 HH3; KAL3; PKR2; GPRg2; GPR73b; GPR73L1; dJ680N4.3 Summary Prokineticins are secreted proteins that can promote angiogenesis and induce strong gastrointestinal smooth muscle contraction. The protein encoded by this gene is an integral membrane protein and G protein-coupled receptor for prokineticins. The encoded protein is similar in sequence to GPR73, another G protein-coupled receptor for prokineticins. [provided by RefSeq, Jul 2008] Expression Low expression observed in reference dataset See more Orthologs mouse all
PROM1, Official Symbol PROM1provided by HGNC Official Full Name prominin 1provided by HGNC Primary source HGNC:HGNC:9454 See related Ensembl:ENSG00000007062 MIM:604365; AllianceGenome:HGNC:9454 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 RP41; AC133; CD133; MCDR2; STGD4; CORD12; PROML1; MSTP061 Summary This gene encodes a pentaspan transmembrane glycoprotein. The protein localizes to membrane protrusions and is often expressed on adult stem cells, where it is thought to function in maintaining stem cell properties by suppressing differentiation. Mutations in this gene have been shown to result in retinitis pigmentosa and Stargardt disease. Expression of this gene is also associated with several types of cancer. This gene is expressed from at least five alternative promoters that are expressed in a tissue-dependent manner. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009] Expression Broad expression in gall bladder (RPKM 15.7), stomach (RPKM 10.2) and 18 other tissues See more Orthologs mouse all
PROM2, Official Symbol PROM2provided by HGNC Official Full Name prominin 2provided by HGNC Primary source HGNC:HGNC:20685 See related Ensembl:ENSG00000155066 MIM:617160; AllianceGenome:HGNC:20685 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 PROML2 Summary This gene encodes a member of the prominin family of pentaspan membrane glycoproteins. The encoded protein localizes to basal epithelial cells and may be involved in the organization of plasma membrane microdomains. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009] Expression Biased expression in skin (RPKM 29.4), esophagus (RPKM 22.9) and 11 other tissues See more Orthologs mouse all
PROP1, Official Symbol PROP1provided by HGNC Official Full Name PROP paired-like homeobox 1provided by HGNC Primary source HGNC:HGNC:9455 See related Ensembl:ENSG00000175325 MIM:601538; AllianceGenome:HGNC:9455 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 CPHD2; PROP-1 Summary This gene encodes a paired-like homeodomain transcription factor in the developing pituitary gland. Expression occurs prior to and is required for expression of pou domain transcription factor 1, which is responsible for pituitary development and hormone expression. Mutations in this gene have been associated with combined pituitary hormone deficiency-2 as well as deficiencies in luteinizing hormone, follicle-stimulating hormone, growth hormone, prolactin, and thyroid-stimulating hormone. [provided by RefSeq, Sep 2011] Expression Low expression observed in reference dataset See more Orthologs mouse all
PRORP, Official Symbol PRORPprovided by HGNC Official Full Name protein only RNase P catalytic subunitprovided by HGNC Primary source HGNC:HGNC:19958 See related Ensembl:ENSG00000100890 MIM:609947; AllianceGenome:HGNC:19958 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 MRPP3; COXPD54; KIAA0391 Summary Enables ribonuclease P activity. Involved in mitochondrial tRNA 5'-end processing. Located in mitochondrion and nucleoplasm. Part of mitochondrial ribonuclease P complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in testis (RPKM 10.2), kidney (RPKM 8.4) and 25 other tissues See more Orthologs mouse all
PRORSD1P, Official Symbol PRORSD1Pprovided by HGNC Official Full Name prolyl-tRNA synthetase associated domain containing 1, pseudogeneprovided by HGNC Primary source HGNC:HGNC:34379 See related Ensembl:ENSG00000162997 AllianceGenome:HGNC:34379 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 ProX; Ybakd1; Prdxdd1; PRDXDD1P; ProXp-ala; NCRNA00117 Summary Predicted to enable aminoacyl-tRNA editing activity. Predicted to be involved in aminoacyl-tRNA metabolism involved in translational fidelity. [provided by Alliance of Genome Resources, Apr 2022]
PROS1, Official Symbol PROS1provided by HGNC Official Full Name protein Sprovided by HGNC Primary source HGNC:HGNC:9456 See related Ensembl:ENSG00000184500 MIM:176880; AllianceGenome:HGNC:9456 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 PSA; PROS; PS21; PS22; PS23; PS24; PS25; THPH5; THPH6 Summary This gene encodes a vitamin K-dependent plasma protein that functions as a cofactor for the anticoagulant protease, activated protein C (APC) to inhibit blood coagulation. It is found in plasma in both a free, functionally active form and also in an inactive form complexed with C4b-binding protein. Mutations in this gene result in autosomal dominant hereditary thrombophilia. An inactive pseudogene of this locus is located at an adjacent region on chromosome 3. Alternative splicing results in multiple transcript variants encoding different isoforms that may undergo similar processing to generate mature protein. [provided by RefSeq, Oct 2015] Expression Broad expression in liver (RPKM 79.4), heart (RPKM 44.6) and 21 other tissues See more Orthologs mouse all
PROSER1, Official Symbol PROSER1provided by HGNC Official Full Name proline and serine rich 1provided by HGNC Primary source HGNC:HGNC:20291 See related Ensembl:ENSG00000120685 AllianceGenome:HGNC:20291 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 C13orf23 Summary This gene encodes a conserved protein containing proline and serine rich regions. These regions may be important in protein-protein interactions. [provided by RefSeq, Aug 2012] Expression Ubiquitous expression in placenta (RPKM 12.5), bone marrow (RPKM 10.6) and 25 other tissues See more Orthologs mouse all
PROSER2, Official Symbol PROSER2provided by HGNC Official Full Name proline and serine rich 2provided by HGNC Primary source HGNC:HGNC:23728 See related Ensembl:ENSG00000148426 AllianceGenome:HGNC:23728 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 C10orf47 Expression Broad expression in liver (RPKM 3.3), placenta (RPKM 2.8) and 23 other tissues See more Orthologs mouse all
PROSER2-AS1, Official Symbol PROSER2-AS1provided by HGNC Official Full Name PROSER2 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:27343 See related Ensembl:ENSG00000225778 AllianceGenome:HGNC:27343 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Expression Biased expression in placenta (RPKM 2.5), testis (RPKM 2.2) and 4 other tissues See more
PROSER3, Official Symbol PROSER3provided by HGNC Official Full Name proline and serine rich 3provided by HGNC Primary source HGNC:HGNC:25204 See related Ensembl:ENSG00000167595 AllianceGenome:HGNC:25204 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 C19orf55 Expression Broad expression in testis (RPKM 6.2), appendix (RPKM 2.0) and 24 other tissues See more Orthologs mouse all
PROX1, Official Symbol PROX1provided by HGNC Official Full Name prospero homeobox 1provided by HGNC Primary source HGNC:HGNC:9459 See related Ensembl:ENSG00000117707 MIM:601546; AllianceGenome:HGNC:9459 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 The protein encoded by this gene is a member of the homeobox transcription factor family. Members of this family contain a homeobox domain that consists of a 60-amino acid helix-turn-helix structure that binds DNA and RNA. The protein encoded by this gene is conserved across vertebrates and may play an essential role during development. Altered levels of this protein have been reported in cancers of different organs, such as colon, brain, blood, breast, pancreas, liver and esophagus. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2012] Expression Biased expression in liver (RPKM 20.2), adrenal (RPKM 5.1) and 13 other tissues See more Orthologs mouse all
PROX1-AS1, Official Symbol PROX1-AS1provided by HGNC Official Full Name PROX1 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:43656 See related Ensembl:ENSG00000230461 AllianceGenome:HGNC:43656 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Expression Biased expression in liver (RPKM 1.1), testis (RPKM 0.5) and 10 other tissues See more
PROX2, Official Symbol PROX2provided by HGNC Official Full Name prospero homeobox 2provided by HGNC Primary source HGNC:HGNC:26715 See related Ensembl:ENSG00000119608 MIM:615094; AllianceGenome:HGNC:26715 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 PROX-2 Summary Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to be part of chromatin. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Apr 2022] Expression Low expression observed in reference dataset See more Orthologs mouse all
PROZ, Official Symbol PROZprovided by HGNC Official Full Name protein Z, vitamin K dependent plasma glycoproteinprovided by HGNC Primary source HGNC:HGNC:9460 See related Ensembl:ENSG00000126231 MIM:176895; AllianceGenome:HGNC:9460 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 PZ Summary This gene encodes a liver vitamin K-dependent glycoprotein that is synthesized in the liver and secreted into the plasma. The encoded protein plays a role in regulating blood coagulation by complexing with protein Z-dependent protease inhibitor to directly inhibit activated factor X at the phospholipid surface. Deficiencies in this protein are associated with an increased risk of ischemic arterial diseases and fetal loss. Mutations in this gene are the cause of protein Z deficiency. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jan 2012] Expression Biased expression in liver (RPKM 5.4), kidney (RPKM 4.0) and 1 other tissue See more Orthologs mouse all
PRPF18, Official Symbol PRPF18provided by HGNC Official Full Name pre-mRNA processing factor 18provided by HGNC Primary source HGNC:HGNC:17351 See related Ensembl:ENSG00000165630 MIM:604993; AllianceGenome:HGNC:17351 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 PRP18; hPrp18 Summary Pre-mRNA splicing occurs in 2 sequential transesterification steps. The protein encoded by this gene is found to be essential for the catalytic step II in pre-mRNA splicing process. It is found in the spliceosome, and contains seven WD repeats, which function in protein-protein interactions. This protein has a sequence similarity to the yeast splicing factor Prp18. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in fat (RPKM 3.4), brain (RPKM 3.1) and 25 other tissues See more Orthologs mouse all
PRPF19, Official Symbol PRPF19provided by HGNC Official Full Name pre-mRNA processing factor 19provided by HGNC Primary source HGNC:HGNC:17896 See related Ensembl:ENSG00000110107 MIM:608330; AllianceGenome:HGNC:17896 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 PSO4; SNEV; PRP19; UBOX4; hPSO4; NMP200 Summary Enables identical protein binding activity and ubiquitin-ubiquitin ligase activity. Involved in several processes, including DNA damage checkpoint signaling; cellular protein metabolic process; and mRNA splicing, via spliceosome. Acts upstream of or within protein polyubiquitination. Located in cytoplasm; nuclear speck; and site of double-strand break. Part of Prp19 complex and U2-type catalytic step 2 spliceosome. Colocalizes with DNA replication factor A complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in brain (RPKM 44.9), ovary (RPKM 35.1) and 25 other tissues See more Orthologs mouse all