psui3905/ncbi_genes_summary huggingface dataset:
PLXNC1, Official Symbol PLXNC1provided by HGNC Official Full Name plexin C1provided by HGNC Primary source HGNC:HGNC:9106 See related Ensembl:ENSG00000136040 MIM:604259; AllianceGenome:HGNC:9106 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 CD232; VESPR; PLXN-C1 Summary This gene encodes a member of the plexin family. Plexins are transmembrane receptors for semaphorins, a large family of proteins that regulate axon guidance, cell motility and migration, and the immune response. The encoded protein and its ligand regulate melanocyte adhesion, and viral semaphorins may modulate the immune response by binding to this receptor. The encoded protein may be a tumor suppressor protein for melanoma. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Jan 2011] Expression Broad expression in appendix (RPKM 8.1), testis (RPKM 6.6) and 23 other tissues See more Orthologs mouse all
PLXND1, Official Symbol PLXND1provided by HGNC Official Full Name plexin D1provided by HGNC Primary source HGNC:HGNC:9107 See related Ensembl:ENSG00000004399 MIM:604282; AllianceGenome:HGNC:9107 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 CHTD9; PLEXD1 Summary Enables protein domain specific binding activity. Predicted to be involved in several processes, including endothelial cell migration; nervous system development; and regulation of angiogenesis. Predicted to act upstream of or within several processes, including circulatory system development; dichotomous subdivision of terminal units involved in salivary gland branching; and positive regulation of protein binding activity. Located in lamellipodium. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in placenta (RPKM 37.7), fat (RPKM 32.1) and 23 other tissues See more Orthologs mouse all
PM20D1, Official Symbol PM20D1provided by HGNC Official Full Name peptidase M20 domain containing 1provided by HGNC Primary source HGNC:HGNC:26518 See related Ensembl:ENSG00000162877 MIM:617124; AllianceGenome:HGNC:26518 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 Cps1 Summary Enables hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides. Involved in several processes, including amide biosynthetic process; cellular amide catabolic process; and negative regulation of neuron death. Located in extracellular exosome. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in pancreas (RPKM 10.8), urinary bladder (RPKM 2.6) and 3 other tissues See more Orthologs mouse all
PM20D2, Official Symbol PM20D2provided by HGNC Official Full Name peptidase M20 domain containing 2provided by HGNC Primary source HGNC:HGNC:21408 See related Ensembl:ENSG00000146281 MIM:615913; AllianceGenome:HGNC:21408 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 ACY1L2 Summary Enables dipeptidase activity and identical protein binding activity. Acts upstream of or within proteolysis and regulation of cellular protein metabolic process. Located in nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in prostate (RPKM 11.9), ovary (RPKM 8.1) and 25 other tissues See more Orthologs mouse all
PMAIP1, Official Symbol PMAIP1provided by HGNC Official Full Name phorbol-12-myristate-13-acetate-induced protein 1provided by HGNC Primary source HGNC:HGNC:9108 See related Ensembl:ENSG00000141682 MIM:604959; AllianceGenome:HGNC:9108 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 APR; NOXA Summary This gene belongs to a pro-apoptotic subfamily within the BCL-2 protein family, referred to as the BCL-2 homology domain 3 (BH3)-only subfamily, which determine whether a cell commits to apoptosis. In response to death-inducing stimuli, BH3-only members inhibit the anti-apoptotic BCL-2 family members, which under steady-state conditions keep the multi-BH domain proteins BAX and BAK, in an inactive state. [provided by RefSeq, Aug 2020] Expression Biased expression in bone marrow (RPKM 33.1), placenta (RPKM 8.9) and 12 other tissues See more Orthologs mouse all
PMCH, Official Symbol PMCHprovided by HGNC Official Full Name pro-melanin concentrating hormoneprovided by HGNC Primary source HGNC:HGNC:9109 See related Ensembl:ENSG00000183395 MIM:176795; AllianceGenome:HGNC:9109 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 MCH; ppMCH Summary This gene encodes a preproprotein that is proteolytically processed to generate multiple protein products. These products include melanin-concentrating hormone (MCH), neuropeptide-glutamic acid-isoleucine (NEI), and neuropeptide-glycine-glutamic acid (NGE). Melanin-concentrating hormone is a 19-amino acid neuropeptide that stimulates hunger and may additionally regulate energy homeostasis, reproductive function, and sleep. Pseudogenes of this gene have been identified on chromosome 5. [provided by RefSeq, Jul 2015] Expression Broad expression in bone marrow (RPKM 1.1), lymph node (RPKM 0.9) and 21 other tissues See more Orthologs mouse all
PMCHL2, Official Symbol PMCHL2provided by HGNC Official Full Name pro-melanin concentrating hormone like 2 (pseudogene)provided by HGNC Primary source HGNC:HGNC:9111 See related Ensembl:ENSG00000290836 MIM:176794; AllianceGenome:HGNC:9111 Gene type pseudo RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary Predicted to enable type 1 melanin-concentrating hormone receptor binding activity. Predicted to be involved in chemical synaptic transmission and signal transduction. Predicted to be located in synapse. [provided by Alliance of Genome Resources, Apr 2022] Expression Low expression observed in reference dataset See more
PMEL, Official Symbol PMELprovided by HGNC Official Full Name premelanosome proteinprovided by HGNC Primary source HGNC:HGNC:10880 See related Ensembl:ENSG00000185664 MIM:155550; AllianceGenome:HGNC:10880 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 P1; SI; SIL; ME20; P100; SILV; HMB45; ME20M; gp100; HMB-45; ME20-M; PMEL17; D12S53E Summary This gene encodes a melanocyte-specific type I transmembrane glycoprotein. The encoded protein is enriched in melanosomes, which are the melanin-producing organelles in melanocytes, and plays an essential role in the structural organization of premelanosomes. This protein is involved in generating internal matrix fibers that define the transition from Stage I to Stage II melanosomes. This protein undergoes a complex pattern of prosttranslational processing and modification that is essential to the proper functioning of the protein. A secreted form of this protein that is released by proteolytic ectodomain shedding may be used as a melanoma-specific serum marker. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jan 2011] Expression Biased expression in skin (RPKM 37.5), testis (RPKM 2.4) and 1 other tissue See more Orthologs mouse all
PMEPA1, Official Symbol PMEPA1provided by HGNC Official Full Name prostate transmembrane protein, androgen induced 1provided by HGNC Primary source HGNC:HGNC:14107 See related Ensembl:ENSG00000124225 MIM:606564; AllianceGenome:HGNC:14107 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 STAG1; TMEPAI Summary This gene encodes a transmembrane protein that contains a Smad interacting motif (SIM). Expression of this gene is induced by androgens and transforming growth factor beta, and the encoded protein suppresses the androgen receptor and transforming growth factor beta signaling pathways though interactions with Smad proteins. Overexpression of this gene may play a role in multiple types of cancer. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011] Expression Broad expression in prostate (RPKM 54.2), fat (RPKM 28.9) and 20 other tissues See more Orthologs mouse all
PMF1, Official Symbol PMF1provided by HGNC Official Full Name polyamine modulated factor 1provided by HGNC Primary source HGNC:HGNC:9112 See related Ensembl:ENSG00000160783 MIM:609176; AllianceGenome:HGNC:9112 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 leucine zipper domain binding activity and transcription coactivator activity. Involved in chromosome segregation. Located in Golgi apparatus; kinetochore; and nucleoplasm. Part of MIS12/MIND type complex. Implicated in bladder carcinoma and urinary bladder cancer. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in bone marrow (RPKM 21.9), thyroid (RPKM 21.3) and 25 other tissues See more Orthologs mouse all
PMF1-BGLAP, Official Symbol PMF1-BGLAPprovided by HGNC Official Full Name PMF1-BGLAP readthroughprovided by HGNC Primary source HGNC:HGNC:42953 See related Ensembl:ENSG00000260238 AllianceGenome:HGNC:42953 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 PMF1; PMF-1 Summary This locus represents naturally occurring read-through transcription between the neighboring PMF1 (polyamine-modulated factor 1) and BGLAP (bone gamma-carboxyglutamate Gla protein) genes on chromosome 1. Alternative splicing results in multiple transcript variants encoding isoforms that share sequence identity with the upstream gene product, but they contain distinct C-termini due to frameshifts versus the downstream gene coding sequence. [provided by RefSeq, Dec 2010] Expression Ubiquitous expression in thyroid (RPKM 18.8), bone marrow (RPKM 17.3) and 25 other tissues See more
PMFBP1, Official Symbol PMFBP1provided by HGNC Official Full Name polyamine modulated factor 1 binding protein 1provided by HGNC Primary source HGNC:HGNC:17728 See related Ensembl:ENSG00000118557 MIM:618085; AllianceGenome:HGNC:17728 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 STAP; SPGF31 Summary Involved in spermatogenesis. Located in sperm connecting piece. Implicated in spermatogenic failure 31. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in testis (RPKM 6.6), small intestine (RPKM 0.5) and 2 other tissues See more Orthologs mouse all
PMIS2, Official Symbol PMIS2provided by HGNC Official Full Name PMIS2 transmembrane proteinprovided by HGNC Primary source HGNC:HGNC:53649 See related Ensembl:ENSG00000283758 AllianceGenome:HGNC:53649 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 IFITMD9 Summary Predicted to act upstream of or within binding activity of sperm to zona pellucida. Predicted to be integral component of membrane. Predicted to be active in intracellular membrane-bounded organelle and membrane. [provided by Alliance of Genome Resources, Apr 2022] Orthologs all
PML, Official Symbol PMLprovided by HGNC Official Full Name PML nuclear body scaffoldprovided by HGNC Primary source HGNC:HGNC:9113 See related Ensembl:ENSG00000140464 MIM:102578; AllianceGenome:HGNC:9113 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 MYL; RNF71; PP8675; TRIM19 Summary The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. This phosphoprotein localizes to nuclear bodies where it functions as a transcription factor and tumor suppressor. Its expression is cell-cycle related and it regulates the p53 response to oncogenic signals. The gene is often involved in the translocation with the retinoic acid receptor alpha gene associated with acute promyelocytic leukemia (APL). Extensive alternative splicing of this gene results in several variations of the protein's central and C-terminal regions; all variants encode the same N-terminus. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in fat (RPKM 11.8), spleen (RPKM 8.1) and 25 other tissues See more Orthologs mouse all
PMM1, Official Symbol PMM1provided by HGNC Official Full Name phosphomannomutase 1provided by HGNC Primary source HGNC:HGNC:9114 See related Ensembl:ENSG00000100417 MIM:601786; AllianceGenome:HGNC:9114 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 PMM 1; Sec53; PMMH-22 Summary Phosphomannomutase catalyzes the conversion between D-mannose 6-phosphate and D-mannose 1-phosphate which is a substrate for GDP-mannose synthesis. GDP-mannose is used for synthesis of dolichol-phosphate-mannose, which is essential for N-linked glycosylation and thus the secretion of several glycoproteins as well as for the synthesis of glycosyl-phosphatidyl-inositol (GPI) anchored proteins. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in kidney (RPKM 25.6), ovary (RPKM 25.1) and 25 other tissues See more Orthologs mouse all
PMM2, Official Symbol PMM2provided by HGNC Official Full Name phosphomannomutase 2provided by HGNC Primary source HGNC:HGNC:9115 See related Ensembl:ENSG00000140650 MIM:601785; AllianceGenome:HGNC:9115 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 PMI; CDG1; CDGS; PMI1; CDG1a; PMM 2 Summary The protein encoded by this gene catalyzes the isomerization of mannose 6-phosphate to mannose 1-phosphate, which is a precursor to GDP-mannose necessary for the synthesis of dolichol-P-oligosaccharides. Mutations in this gene have been shown to cause defects in glycoprotein biosynthesis, which manifests as carbohydrate-deficient glycoprotein syndrome type I. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in colon (RPKM 15.9), duodenum (RPKM 13.3) and 25 other tissues See more Orthologs mouse all
PMM2P1, Official Symbol PMM2P1provided by HGNC Official Full Name phosphomannomutase 2 pseudogene 1provided by HGNC Primary source HGNC:HGNC:9116 See related AllianceGenome:HGNC:9116 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
PMP2, Official Symbol PMP2provided by HGNC Official Full Name peripheral myelin protein 2provided by HGNC Primary source HGNC:HGNC:9117 See related Ensembl:ENSG00000147588 MIM:170715; AllianceGenome:HGNC:9117 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 P2; MP2; CMT1G; FABP8; M-FABP Summary The protein encoded by this gene localizes to myelin sheaths of the peripheral nervous system. The encoded protein can bind both the membrane layers of the sheaths and monomeric lipids, and is thought to provide stability to the sheath. A defect in this gene was shown to be a cause of dominant demyelinating CMT neuropathy. [provided by RefSeq, Jan 2017] Expression Restricted expression toward brain (RPKM 121.5) See more Orthologs all
PMP22, Official Symbol PMP22provided by HGNC Official Full Name peripheral myelin protein 22provided by HGNC Primary source HGNC:HGNC:9118 See related Ensembl:ENSG00000109099 MIM:601097; AllianceGenome:HGNC:9118 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 DSS; CIDP; GAS3; HNPP; CMT1A; CMT1E; GAS-3; Sp110; HMSNIA Summary This gene encodes an integral membrane protein that is a major component of myelin in the peripheral nervous system. Studies suggest two alternately used promoters drive tissue-specific expression. Various mutations of this gene are causes of Charcot-Marie-Tooth disease Type IA, Dejerine-Sottas syndrome, and hereditary neuropathy with liability to pressure palsies. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013] Expression Broad expression in small intestine (RPKM 54.6), placenta (RPKM 43.6) and 22 other tissues See more Orthologs mouse all
PMPCA, Official Symbol PMPCAprovided by HGNC Official Full Name peptidase, mitochondrial processing subunit alphaprovided by HGNC Primary source HGNC:HGNC:18667 See related Ensembl:ENSG00000165688 MIM:613036; AllianceGenome:HGNC:18667 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 CLA1; CPD3; MAS2; P-55; SCAR2; INPP5E; Alpha-MPP Summary The protein encoded by this gene is found in the mitochondrion, where it represents the alpha subunit of a proteolytic heterodimer. This heterodimer is responsible for cleaving the transit peptide from nuclear-encoded mitochondrial proteins. Defects in this gene are a cause of spinocerebellar ataxia, autosomal recessive 2. [provided by RefSeq, Mar 2016] Expression Ubiquitous expression in heart (RPKM 12.6), testis (RPKM 12.5) and 25 other tissues See more Orthologs mouse all
PMPCAP1, Official Symbol PMPCAP1provided by HGNC Official Full Name PMPCA pseudogene 1provided by HGNC Primary source HGNC:HGNC:51348 See related AllianceGenome:HGNC:51348 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
PMPCB, Official Symbol PMPCBprovided by HGNC Official Full Name peptidase, mitochondrial processing subunit betaprovided by HGNC Primary source HGNC:HGNC:9119 See related Ensembl:ENSG00000105819 MIM:603131; AllianceGenome:HGNC:9119 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 MAS1; MPPB; P-52; MPP11; MPPP52; Beta-MPP Summary This gene is a member of the peptidase M16 family and encodes a protein with a zinc-binding motif. This protein is located in the mitochondrial matrix and catalyzes the cleavage of the leader peptides of precursor proteins newly imported into the mitochondria, though it only functions as part of a heterodimeric complex. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in adrenal (RPKM 16.7), kidney (RPKM 15.9) and 25 other tissues See more Orthologs mouse all
PMS1, Official Symbol PMS1provided by HGNC Official Full Name PMS1 homolog 1, mismatch repair system componentprovided by HGNC Primary source HGNC:HGNC:9121 See related Ensembl:ENSG00000064933 MIM:600258; AllianceGenome:HGNC:9121 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 MLH2; PMSL1; hPMS1; HNPCC3 Summary This gene encodes a protein belonging to the DNA mismatch repair mutL/hexB family. This protein is thought to be involved in the repair of DNA mismatches, and it can form heterodimers with MLH1, a known DNA mismatch repair protein. Mutations in this gene cause hereditary nonpolyposis colorectal cancer type 3 (HNPCC3) either alone or in combination with mutations in other genes involved in the HNPCC phenotype, which is also known as Lynch syndrome. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in testis (RPKM 8.3), endometrium (RPKM 3.7) and 24 other tissues See more Orthologs mouse all
PMS2, Official Symbol PMS2provided by HGNC Official Full Name PMS1 homolog 2, mismatch repair system componentprovided by HGNC Primary source HGNC:HGNC:9122 See related Ensembl:ENSG00000122512 MIM:600259; AllianceGenome:HGNC:9122 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 MLH4; PMS-2; PMSL2; HNPCC4; LYNCH4; MMRCS4; PMS2CL Summary The protein encoded by this gene is a key component of the mismatch repair system that functions to correct DNA mismatches and small insertions and deletions that can occur during DNA replication and homologous recombination. This protein forms heterodimers with the gene product of the mutL homolog 1 (MLH1) gene to form the MutL-alpha heterodimer. The MutL-alpha heterodimer possesses an endonucleolytic activity that is activated following recognition of mismatches and insertion/deletion loops by the MutS-alpha and MutS-beta heterodimers, and is necessary for removal of the mismatched DNA. There is a DQHA(X)2E(X)4E motif found at the C-terminus of the protein encoded by this gene that forms part of the active site of the nuclease. Mutations in this gene have been associated with hereditary nonpolyposis colorectal cancer (HNPCC; also known as Lynch syndrome) and Turcot syndrome. [provided by RefSeq, Apr 2016] Expression Ubiquitous expression in brain (RPKM 6.7), thyroid (RPKM 5.5) and 25 other tissues See more Orthologs all
PMS2CL, Official Symbol PMS2CLprovided by HGNC Official Full Name PMS2 C-terminal like (pseudogene)provided by HGNC Primary source HGNC:HGNC:30061 See related Ensembl:ENSG00000187953 AllianceGenome:HGNC:30061 Gene type pseudo RefSeq status PROVISIONAL Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as PMS2P13 Expression Ubiquitous expression in testis (RPKM 8.4), brain (RPKM 7.3) and 25 other tissues See more
PMS2P12, Official Symbol PMS2P12provided by HGNC Official Full Name PMS1 homolog 2, mismatch repair system component pseudogene 12provided by HGNC Primary source HGNC:HGNC:13641 See related Ensembl:ENSG00000228546 AllianceGenome:HGNC:13641 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 PMSL12; PMS2L12
PMS2P8, Official Symbol PMS2P8provided by HGNC Official Full Name PMS1 homolog 2, mismatch repair system component pseudogene 8provided by HGNC Primary source HGNC:HGNC:33516 See related AllianceGenome:HGNC:33516 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 PMS2L16
PMVK, Official Symbol PMVKprovided by HGNC Official Full Name phosphomevalonate kinaseprovided by HGNC Primary source HGNC:HGNC:9141 See related Ensembl:ENSG00000163344 MIM:607622; AllianceGenome:HGNC:9141 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 PMK; PMKA; PMKASE; POROK1; HUMPMKI Summary This gene encodes a peroxisomal enzyme that is a member of the galactokinase, homoserine kinase, mevalonate kinase, and phosphomevalonate kinase (GHMP) family of ATP-dependent enzymes. The encoded protein catalyzes the conversion of mevalonate 5-phosphate to mevalonate 5-diphosphate, which is the fifth step in the mevalonate pathway of isoprenoid biosynthesis. Mutations in this gene are linked to certain types of porokeratosis including disseminated superficial porokeratosis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2017] Expression Ubiquitous expression in kidney (RPKM 26.9), liver (RPKM 17.8) and 25 other tissues See more Orthologs mouse all
PNCK, Official Symbol PNCKprovided by HGNC Official Full Name pregnancy up-regulated nonubiquitous CaM kinaseprovided by HGNC Primary source HGNC:HGNC:13415 See related Ensembl:ENSG00000130822 MIM:300680; AllianceGenome:HGNC:13415 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 BSTK3; CaMK1b Summary PNCK is a member of the calcium/calmodulin-dependent protein kinase family of protein serine/threonine kinases (see CAMK1; MIM 604998) (Gardner et al., 2000 [PubMed 10673339]).[supplied by OMIM, Mar 2008] Expression Biased expression in brain (RPKM 7.4), prostate (RPKM 4.6) and 11 other tissues See more Orthologs mouse all
PNISR, Official Symbol PNISRprovided by HGNC Official Full Name PNN interacting serine and arginine rich proteinprovided by HGNC Primary source HGNC:HGNC:21222 See related Ensembl:ENSG00000132424 MIM:616653; AllianceGenome:HGNC:21222 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 SFRS18; HSPC306; SRrp130; C6orf111; bA98I9.2 Summary Enables RNA binding activity. Located in cytosol; nuclear speck; and plasma membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in lymph node (RPKM 25.8), spleen (RPKM 24.5) and 25 other tissues See more Orthologs mouse all
PNKD, Official Symbol PNKDprovided by HGNC Official Full Name PNKD metallo-beta-lactamase domain containingprovided by HGNC Primary source HGNC:HGNC:9153 See related Ensembl:ENSG00000127838 MIM:609023; AllianceGenome:HGNC:9153 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 R1; MR1; PDC; DYT8; FPD1; MR-1; BRP17; MR-1S; PKND1; PNKD1; FKSG19; TAHCCP2; KIPP1184 Summary This gene is thought to play a role in the regulation of myofibrillogenesis. Mutations in this gene have been associated with the movement disorder paroxysmal non-kinesigenic dyskinesia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2010] Expression Ubiquitous expression in prostate (RPKM 19.3), kidney (RPKM 16.6) and 25 other tissues See more Orthologs mouse all
PNKDP1, Official Symbol PNKDP1provided by HGNC Official Full Name PNKD pseudogene 1provided by HGNC Primary source HGNC:HGNC:49628 See related AllianceGenome:HGNC:49628 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
PNKP, Official Symbol PNKPprovided by HGNC Official Full Name polynucleotide kinase 3'-phosphataseprovided by HGNC Primary source HGNC:HGNC:9154 See related Ensembl:ENSG00000039650 MIM:605610; AllianceGenome:HGNC:9154 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 PNK; AOA4; MCSZ; CMT2B2; EIEE10 Summary This locus represents a gene involved in DNA repair. In response to ionizing radiation or oxidative damage, the protein encoded by this locus catalyzes 5' phosphorylation and 3' dephosphorylation of nucleic acids. Mutations at this locus have been associated with microcephaly, seizures, and developmental delay.[provided by RefSeq, Sep 2010] Expression Ubiquitous expression in spleen (RPKM 18.2), adrenal (RPKM 13.4) and 25 other tissues See more Orthologs mouse all
PNLDC1, Official Symbol PNLDC1provided by HGNC Official Full Name PARN like ribonuclease domain containing exonuclease 1provided by HGNC Primary source HGNC:HGNC:21185 See related Ensembl:ENSG00000146453 MIM:619529; AllianceGenome:HGNC:21185 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 SPGF57; Trimmer; HsPNLDC1 Summary Enables poly(A)-specific ribonuclease activity. Involved in nuclear-transcribed mRNA poly(A) tail shortening. Located in endoplasmic reticulum. Implicated in spermatogenic failure. [provided by Alliance of Genome Resources, Apr 2022] Expression Restricted expression toward testis (RPKM 4.8) See more Orthologs mouse all
PNLIP, Official Symbol PNLIPprovided by HGNC Official Full Name pancreatic lipaseprovided by HGNC Primary source HGNC:HGNC:9155 See related Ensembl:ENSG00000175535 MIM:246600; AllianceGenome:HGNC:9155 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 PL; PTL; PNLIPD Summary This gene encodes a member of the lipase family of proteins. The encoded enzyme is secreted by the pancreas and hydrolyzes triglycerides in the small intestine, and is essential for the efficient digestion of dietary fats. Inhibition of the encoded enzyme may prevent high-fat diet-induced obesity in mice and result in weight loss in human patients with obesity. Mutations in this gene cause congenital pancreatic lipase deficiency, a rare disorder characterized by steatorrhea. [provided by RefSeq, Jul 2016] Expression Restricted expression toward pancreas (RPKM 53831.3) See more Orthologs mouse all
PNLIPRP1, Official Symbol PNLIPRP1provided by HGNC Official Full Name pancreatic lipase related protein 1provided by HGNC Primary source HGNC:HGNC:9156 See related Ensembl:ENSG00000187021 MIM:604422; AllianceGenome:HGNC:9156 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 PLRP1 Summary Predicted to enable calcium ion binding activity. Predicted to be involved in lipid catabolic process. Predicted to be located in extracellular region. Biomarker of prostate cancer. [provided by Alliance of Genome Resources, Apr 2022] Expression Restricted expression toward pancreas (RPKM 974.1) See more Orthologs mouse all
PNLIPRP2, Official Symbol PNLIPRP2provided by HGNC Official Full Name pancreatic lipase related protein 2 (gene/pseudogene)provided by HGNC Primary source HGNC:HGNC:9157 See related Ensembl:ENSG00000266200 MIM:604423; AllianceGenome:HGNC:9157 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 PLRP2 Summary This gene encodes a lipase that hydrolyzes galactolipids, the main components of plant membrane lipids. An allelic polymorphism in this gene results in both coding and non-coding variants; the reference genome represents the non-coding allele. [provided by RefSeq, Aug 2015] Annotation information Note: Genetic polymorphisms result in both protein coding and non-coding alleles of this gene. Expression Restricted expression toward pancreas (RPKM 1148.7) See more Orthologs all
PNLIPRP3, Official Symbol PNLIPRP3provided by HGNC Official Full Name pancreatic lipase related protein 3provided by HGNC Primary source HGNC:HGNC:23492 See related Ensembl:ENSG00000203837 AllianceGenome:HGNC:23492 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 triglyceride lipase activity. Predicted to be involved in lipid catabolic process. Predicted to be active in extracellular space. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in skin (RPKM 1.9) and esophagus (RPKM 0.8) See more Orthologs all
PNMA1, Official Symbol PNMA1provided by HGNC Official Full Name PNMA family member 1provided by HGNC Primary source HGNC:HGNC:9158 See related Ensembl:ENSG00000176903 MIM:604010; AllianceGenome:HGNC:9158 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 MA1 Summary This gene encodes a neuron- and testis-specific protein that is also expressed in some paraneoplastic syndromes affecting the nervous system. Some patients with neurologic disorders develop antibodies against the protein encoded by this gene. The identification of the antineuronal antibodies in the sera of these patients has facilitated the diagnosis of paraneoplastic neurological disorders and the early detection of the associated tumors. [provided by RefSeq, Feb 2014] Orthologs mouse all
PNMA2, Official Symbol PNMA2provided by HGNC Official Full Name PNMA family member 2provided by HGNC Primary source HGNC:HGNC:9159 See related Ensembl:ENSG00000240694 MIM:603970; AllianceGenome:HGNC:9159 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 MA2; MM2; RGAG2 Summary Predicted to be involved in positive regulation of apoptotic process. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in brain (RPKM 63.2), adrenal (RPKM 6.1) and 1 other tissue See more Orthologs mouse all
PNMA3, Official Symbol PNMA3provided by HGNC Official Full Name PNMA family member 3provided by HGNC Primary source HGNC:HGNC:18742 See related Ensembl:ENSG00000183837 MIM:300675; AllianceGenome:HGNC:18742 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 MA3; MA5 Summary The protein encoded by this gene belongs to the paraneoplastic antigen MA (PNMA) family, which shares homology with retroviral Gag proteins. The PNMA antigens are highly expressed in the brain and also in a range of tumors associated with serious neurological phenotypes. PMID:16407312 reports the presence of a functional -1 ribosomal frameshift signal (consisting of a heptanucleotide shift motif followed 3' by a pseudoknot structure) in this gene, however, the frame-shifted product has not been characterized. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2013] Expression Biased expression in brain (RPKM 9.4), testis (RPKM 8.8) and 7 other tissues See more Orthologs mouse all
PNMA5, Official Symbol PNMA5provided by HGNC Official Full Name PNMA family member 5provided by HGNC Primary source HGNC:HGNC:18743 See related Ensembl:ENSG00000198883 MIM:300916; AllianceGenome:HGNC:18743 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary This gene encodes a member of the paraneoplastic Ma antigen protein family. These proteins have been implicated in the development of paraneoplastic disorders resulting from an immune response directed against them. Paraneoplastic disorders are the result of an abnormal immune response to a tumor. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Oct 2011] Expression Biased expression in testis (RPKM 6.1) and brain (RPKM 2.5) See more Orthologs mouse all
PNMA6A, Official Symbol PNMA6Aprovided by HGNC Official Full Name PNMA family member 6Aprovided by HGNC Primary source HGNC:HGNC:28248 See related Ensembl:ENSG00000235961 MIM:300917; AllianceGenome:HGNC:28248 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 MA6; PNMA6; PNMA6C Expression Biased expression in brain (RPKM 8.1), kidney (RPKM 5.5) and 9 other tissues See more Orthologs all
PNMA6E, Official Symbol PNMA6Eprovided by HGNC Official Full Name PNMA family member 6Eprovided by HGNC Primary source HGNC:HGNC:50767 See related Ensembl:ENSG00000214897 AllianceGenome:HGNC:50767 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 Orthologs all
PNMA6F, Official Symbol PNMA6Fprovided by HGNC Official Full Name PNMA family member 6Fprovided by HGNC Primary source HGNC:HGNC:53119 See related Ensembl:ENSG00000225110 AllianceGenome:HGNC:53119 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 PNMA6BL Expression Biased expression in brain (RPKM 1.4), adrenal (RPKM 0.4) and 1 other tissue See more Orthologs all
PNMA8A, Official Symbol PNMA8Aprovided by HGNC Official Full Name PNMA family member 8Aprovided by HGNC Primary source HGNC:HGNC:25578 See related Ensembl:ENSG00000182013 AllianceGenome:HGNC:25578 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 PNMAL1 Expression Biased expression in brain (RPKM 50.9), testis (RPKM 18.2) and 8 other tissues See more Orthologs mouse all
PNMA8B, Official Symbol PNMA8Bprovided by HGNC Official Full Name PNMA family member 8Bprovided by HGNC Primary source HGNC:HGNC:29206 See related Ensembl:ENSG00000204851 MIM:620159; AllianceGenome:HGNC:29206 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 PNMAL2 Orthologs mouse all
PNMA8C, Official Symbol PNMA8Cprovided by HGNC Official Full Name PNMA family member 8Cprovided by HGNC Primary source HGNC:HGNC:53427 See related Ensembl:ENSG00000277531 AllianceGenome:HGNC:53427 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 Orthologs mouse all
PNMT, Official Symbol PNMTprovided by HGNC Official Full Name phenylethanolamine N-methyltransferaseprovided by HGNC Primary source HGNC:HGNC:9160 See related Ensembl:ENSG00000141744 MIM:171190; AllianceGenome:HGNC:9160 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 PENT; PNMTase Summary The product of this gene catalyzes the last step of the catecholamine biosynthesis pathway, which methylates norepinephrine to form epinephrine (adrenaline). The enzyme also has beta-carboline 2N-methyltransferase activity. This gene is thought to play a key step in regulating epinephrine production. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Nov 2012] Expression Biased expression in adrenal (RPKM 46.5) and fat (RPKM 2.1) See more Orthologs mouse all
PNN, Official Symbol PNNprovided by HGNC Official Full Name pinin, desmosome associated proteinprovided by HGNC Primary source HGNC:HGNC:9162 See related Ensembl:ENSG00000100941 MIM:603154; AllianceGenome:HGNC:9162 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 DRS; DRSP; SDK3; memA Summary Enables RNA binding activity. Predicted to be involved in cell adhesion and mRNA splicing, via spliceosome. Predicted to act upstream of or within cell-cell adhesion. Located in nuclear speck. Part of catalytic step 2 spliceosome. Colocalizes with exon-exon junction complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in bone marrow (RPKM 45.1), lymph node (RPKM 42.9) and 25 other tissues See more Orthologs mouse all
PNO1, Official Symbol PNO1provided by HGNC Official Full Name partner of NOB1 homologprovided by HGNC Primary source HGNC:HGNC:32790 See related Ensembl:ENSG00000115946 MIM:618710; AllianceGenome:HGNC:32790 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 RRP20; KHRBP1 Summary Enables RNA binding activity. Located in nucleolus and nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in thyroid (RPKM 8.8), adrenal (RPKM 8.5) and 25 other tissues See more Orthologs mouse all
PNOC, Official Symbol PNOCprovided by HGNC Official Full Name prepronociceptinprovided by HGNC Primary source HGNC:HGNC:9163 See related Ensembl:ENSG00000168081 MIM:601459; AllianceGenome:HGNC:9163 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 NOP; OFQ; N/OFQ; PPNOC; ppN/OFQ Summary This gene encodes a preproprotein that is proteolytically processed to generate multiple protein products. These products include nociceptin, nocistatin, and orphanin FQ2 (OFQ2). Nociceptin, also known as orphanin FQ, is a 17-amino acid neuropeptide that binds to the nociceptin receptor to induce increased pain sensitivity, and may additionally regulate body temperature, learning and memory, and hunger. Another product of the encoded preproprotein, nocistatin, may inhibit the effects of nociceptin. [provided by RefSeq, Jul 2015] Expression Biased expression in brain (RPKM 7.7), lymph node (RPKM 5.0) and 8 other tissues See more Orthologs mouse all
PNP, Official Symbol PNPprovided by HGNC Official Full Name purine nucleoside phosphorylaseprovided by HGNC Primary source HGNC:HGNC:7892 See related Ensembl:ENSG00000198805 MIM:164050; AllianceGenome:HGNC:7892 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 NP; PUNP; PRO1837 Summary This gene encodes an enzyme which reversibly catalyzes the phosphorolysis of purine nucleosides. The enzyme is trimeric, containing three identical subunits. Mutations which result in nucleoside phosphorylase deficiency result in defective T-cell (cell-mediated) immunity but can also affect B-cell immunity and antibody responses. Neurologic disorders may also be apparent in patients with immune defects. A known polymorphism at aa position 51 that does not affect enzyme activity has been described. A pseudogene has been identified on chromosome 2. [provided by RefSeq, Jul 2008] Expression Broad expression in bone marrow (RPKM 94.2), kidney (RPKM 44.4) and 18 other tissues See more Orthologs mouse all
PNPLA1, Official Symbol PNPLA1provided by HGNC Official Full Name patatin like phospholipase domain containing 1provided by HGNC Primary source HGNC:HGNC:21246 See related Ensembl:ENSG00000180316 MIM:612121; AllianceGenome:HGNC:21246 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 ARCI10; dJ50J22.1 Summary The protein encoded by this gene belongs to the patatin-like phospholipase (PNPLA) family, which is characterized by the presence of a highly conserved patatin domain. PNPLA family members have diverse lipolytic and acyltransferase activities, and are key elements in lipid metabolism. While other members of this family have been well characterized, the function of this gene remained an enigma. However, recent studies show that this gene is expressed in the skin epidermal keratinocytes, and has a role in glycerophospholipid metabolism in the cutaneous barrier. Consistent with these observations, mutations in this gene are associated with ichthyosis in human (autosomal recessive congenital ichthyoses, ARCI) and dog. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2012] Expression Biased expression in skin (RPKM 6.2), kidney (RPKM 1.5) and 2 other tissues See more Orthologs mouse all