psui3905/ncbi_genes_summary huggingface dataset:
P3H1, Official Symbol P3H1provided by HGNC Official Full Name prolyl 3-hydroxylase 1provided by HGNC Primary source HGNC:HGNC:19316 See related Ensembl:ENSG00000117385 MIM:610339; AllianceGenome:HGNC:19316 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 OI8; GROS1; LEPRE1 Summary This gene encodes an enzyme that is a member of the collagen prolyl hydroxylase family. These enzymes are localized to the endoplasmic reticulum and their activity is required for proper collagen synthesis and assembly. Mutations in this gene are associated with osteogenesis imperfecta type VIII. Three alternatively spliced transcript variants encoding different isoforms have been described. Other variants may exist, but their biological validity has not been determined. [provided by RefSeq, Aug 2011] Expression Ubiquitous expression in placenta (RPKM 18.9), testis (RPKM 10.8) and 24 other tissues See more Orthologs mouse all
P3H2, Official Symbol P3H2provided by HGNC Official Full Name prolyl 3-hydroxylase 2provided by HGNC Primary source HGNC:HGNC:19317 See related Ensembl:ENSG00000090530 MIM:610341; AllianceGenome:HGNC:19317 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 MCVD; MLAT4; LEPREL1 Summary This gene encodes a member of the prolyl 3-hydroxylase subfamily of 2-oxo-glutarate-dependent dioxygenases. These enzymes play a critical role in collagen chain assembly, stability and cross-linking by catalyzing post-translational 3-hydroxylation of proline residues. Mutations in this gene are associated with nonsyndromic severe myopia with cataract and vitreoretinal degeneration, and downregulation of this gene may play a role in breast 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 22.0), kidney (RPKM 21.3) and 20 other tissues See more Orthologs mouse all
P3H2-AS1, Official Symbol P3H2-AS1provided by HGNC Official Full Name P3H2 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:40886 See related Ensembl:ENSG00000225764 AllianceGenome:HGNC:40886 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 LEPREL1-AS1 Expression Biased expression in kidney (RPKM 7.9), spleen (RPKM 3.5) and 2 other tissues See more
P3H3, Official Symbol P3H3provided by HGNC Official Full Name prolyl 3-hydroxylase 3provided by HGNC Primary source HGNC:HGNC:19318 See related Ensembl:ENSG00000110811 MIM:610342; AllianceGenome:HGNC:19318 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 GRCB; LEPREL2; HSU47926 Summary The protein encoded by this gene belongs to the leprecan family of proteoglycans, which function as collagen prolyl hydroxylases that are required for proper collagen biosynthesis, folding and assembly. This protein, like other family members, is thought to reside in the endoplasmic reticulum. Epigenetic inactivation of this gene is associated with breast and other cancers, suggesting that it may function as a tumor suppressor. [provided by RefSeq, Aug 2013] Expression Ubiquitous expression in endometrium (RPKM 14.9), ovary (RPKM 11.4) and 23 other tissues See more Orthologs mouse all
P3H4, Official Symbol P3H4provided by HGNC Official Full Name prolyl 3-hydroxylase family member 4 (inactive)provided by HGNC Primary source HGNC:HGNC:16946 See related Ensembl:ENSG00000141696 MIM:617419; AllianceGenome:HGNC:16946 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 NO55; SC65; NOL55; LEPREL4 Summary This nucleolar protein was first characterized because it was an autoantigen in cases on interstitial cystitis. The protein, with a predicted molecular weight of 50 kDa, appears to be localized in the particulate compartment of the interphase nucleolus, with a distribution distinct from that of nucleolar protein B23. During mitosis it is associated with chromosomes. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in placenta (RPKM 4.3), thyroid (RPKM 4.3) and 24 other tissues See more Orthologs mouse all
P3R3URF, Official Symbol P3R3URFprovided by HGNC Official Full Name PIK3R3 upstream open reading frameprovided by HGNC Primary source HGNC:HGNC:53451 See related Ensembl:ENSG00000250719 AllianceGenome:HGNC:53451 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 1-phosphatidylinositol-3-kinase regulator activity. Predicted to be involved in phosphatidylinositol phosphate biosynthetic process. Predicted to be part of phosphatidylinositol 3-kinase complex. [provided by Alliance of Genome Resources, Apr 2022] Orthologs mouse all
P3R3URF-PIK3R3, Official Symbol P3R3URF-PIK3R3provided by HGNC Official Full Name P3R3URF-PIK3R3 readthroughprovided by HGNC Primary source HGNC:HGNC:54999 See related Ensembl:ENSG00000278139 AllianceGenome:HGNC:54999 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 LOC110117498-PIK3R3 Summary This locus represents naturally occurring readthrough transcription between the neighboring genes LOC110117498 and PIK3R3. The readthrough transcript encodes a fusion protein that shares sequence identity with each individual gene product. [provided by RefSeq, Apr 2017]
P4HA1, Official Symbol P4HA1provided by HGNC Official Full Name prolyl 4-hydroxylase subunit alpha 1provided by HGNC Primary source HGNC:HGNC:8546 See related Ensembl:ENSG00000122884 MIM:176710; AllianceGenome:HGNC:8546 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 P4HA Summary This gene encodes a component of prolyl 4-hydroxylase, a key enzyme in collagen synthesis composed of two identical alpha subunits and two beta subunits. The encoded protein is one of several different types of alpha subunits and provides the major part of the catalytic site of the active enzyme. In collagen and related proteins, prolyl 4-hydroxylase catalyzes the formation of 4-hydroxyproline that is essential to the proper three-dimensional folding of newly synthesized procollagen chains. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in placenta (RPKM 35.1), liver (RPKM 30.4) and 24 other tissues See more Orthologs mouse all
P4HA2, Official Symbol P4HA2provided by HGNC Official Full Name prolyl 4-hydroxylase subunit alpha 2provided by HGNC Primary source HGNC:HGNC:8547 See related Ensembl:ENSG00000072682 MIM:600608; AllianceGenome:HGNC:8547 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 MYP25; lncRNA-PE Summary This gene encodes a component of prolyl 4-hydroxylase, a key enzyme in collagen synthesis composed of two identical alpha subunits and two beta subunits. The encoded protein is one of several different types of alpha subunits and provides the major part of the catalytic site of the active enzyme. In collagen and related proteins, prolyl 4-hydroxylase catalyzes the formation of 4-hydroxyproline that is essential to the proper three-dimensional folding of newly synthesized procollagen chains. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in lung (RPKM 10.5), kidney (RPKM 10.5) and 24 other tissues See more Orthologs mouse all
P4HA2-AS1, Official Symbol P4HA2-AS1provided by HGNC Official Full Name P4HA2 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:43560 See related Ensembl:ENSG00000237714 AllianceGenome:HGNC:43560 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Expression Ubiquitous expression in lung (RPKM 11.5), endometrium (RPKM 9.6) and 24 other tissues See more
P4HA3, Official Symbol P4HA3provided by HGNC Official Full Name prolyl 4-hydroxylase subunit alpha 3provided by HGNC Primary source HGNC:HGNC:30135 See related Ensembl:ENSG00000149380 MIM:608987; AllianceGenome:HGNC:30135 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 component of prolyl 4-hydroxylase, a key enzyme in collagen synthesis composed of two identical alpha subunits and two beta subunits. The encoded protein is one of several different types of alpha subunits and provides the major part of the catalytic site of the active enzyme. In collagen and related proteins, prolyl 4-hydroxylase catalyzes the formation of 4-hydroxyproline that is essential to the proper three-dimensional folding of newly synthesized procollagen chains. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014] Expression Biased expression in urinary bladder (RPKM 3.9), gall bladder (RPKM 3.2) and 13 other tissues See more Orthologs mouse all
P4HA3-AS1, Official Symbol P4HA3-AS1provided by HGNC Official Full Name P4HA3 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:53160 See related Ensembl:ENSG00000246211 AllianceGenome:HGNC:53160 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
P4HB, Official Symbol P4HBprovided by HGNC Official Full Name prolyl 4-hydroxylase subunit betaprovided by HGNC Primary source HGNC:HGNC:8548 See related Ensembl:ENSG00000185624 MIM:176790; AllianceGenome:HGNC:8548 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 DSI; GIT; PDI; PHDB; PDIA1; PO4DB; PO4HB; PROHB; CLCRP1; ERBA2L; P4Hbeta Summary This gene encodes the beta subunit of prolyl 4-hydroxylase, a highly abundant multifunctional enzyme that belongs to the protein disulfide isomerase family. When present as a tetramer consisting of two alpha and two beta subunits, this enzyme is involved in hydroxylation of prolyl residues in preprocollagen. This enzyme is also a disulfide isomerase containing two thioredoxin domains that catalyze the formation, breakage and rearrangement of disulfide bonds. Other known functions include its ability to act as a chaperone that inhibits aggregation of misfolded proteins in a concentration-dependent manner, its ability to bind thyroid hormone, its role in both the influx and efflux of S-nitrosothiol-bound nitric oxide, and its function as a subunit of the microsomal triglyceride transfer protein complex. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in duodenum (RPKM 328.5), liver (RPKM 325.1) and 25 other tissues See more Orthologs mouse all
P4HTM, Official Symbol P4HTMprovided by HGNC Official Full Name prolyl 4-hydroxylase, transmembraneprovided by HGNC Primary source HGNC:HGNC:28858 See related Ensembl:ENSG00000178467 MIM:614584; AllianceGenome:HGNC:28858 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 PH4; PH-4; PHD4; EGLN4; HIDEA; HIFPH4; P4H-TM Summary The product of this gene belongs to the family of prolyl 4-hydroxylases. This protein is a prolyl hydroxylase that may be involved in the degradation of hypoxia-inducible transcription factors under normoxia. It plays a role in adaptation to hypoxia and may be related to cellular oxygen sensing. Alternatively spliced variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in brain (RPKM 16.9), adrenal (RPKM 14.4) and 25 other tissues See more Orthologs mouse all
PA2G4, Official Symbol PA2G4provided by HGNC Official Full Name proliferation-associated 2G4provided by HGNC Primary source HGNC:HGNC:8550 See related Ensembl:ENSG00000170515 MIM:602145; AllianceGenome:HGNC:8550 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 EBP1; HG4-1; ITAF45; p38-2G4 Summary This gene encodes an RNA-binding protein that is involved in growth regulation. This protein is present in pre-ribosomal ribonucleoprotein complexes and may be involved in ribosome assembly and the regulation of intermediate and late steps of rRNA processing. This protein can interact with the cytoplasmic domain of the ErbB3 receptor and may contribute to transducing growth regulatory signals. This protein is also a transcriptional co-repressor of androgen receptor-regulated genes and other cell cycle regulatory genes through its interactions with histone deacetylases. This protein has been implicated in growth inhibition and the induction of differentiation of human cancer cells. Six pseudogenes, located on chromosomes 3, 6, 9, 18, 20 and X, have been identified. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in skin (RPKM 37.0), esophagus (RPKM 35.3) and 25 other tissues See more Orthologs mouse all
PA2G4P6, Official Symbol PA2G4P6provided by HGNC Official Full Name proliferation-associated 2G4 pseudogene 6provided by HGNC Primary source HGNC:HGNC:32219 See related AllianceGenome:HGNC:32219 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 PA2G4L3
PAAF1, Official Symbol PAAF1provided by HGNC Official Full Name proteasomal ATPase associated factor 1provided by HGNC Primary source HGNC:HGNC:25687 See related Ensembl:ENSG00000175575 MIM:619772; AllianceGenome:HGNC:25687 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 PAAF; Rpn14; WDR71 Summary This gene encodes a WD repeat-containing protein involved in regulation of association of proteasome components. During HIV infection, the encoded protein is thought to promote provirus transcription through recruitment of the 19S regulatory complex. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jun 2012] Expression Ubiquitous expression in brain (RPKM 8.9), testis (RPKM 8.5) and 25 other tissues See more Orthologs all
PABIR1, Official Symbol PABIR1provided by HGNC Official Full Name PP2A Aalpha (PPP2R1A) and B55A (PPP2R2A) interacting phosphatase regulator 1provided by HGNC Primary source HGNC:HGNC:23490 See related Ensembl:ENSG00000187866 MIM:617249; AllianceGenome:HGNC:23490 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 C9orf42; FAM122A Summary Enables protein serine/threonine phosphatase inhibitor activity. Involved in mitotic G2/M transition checkpoint; positive regulation of cell growth; and positive regulation of proteasomal ubiquitin-dependent protein catabolic process. Located in cytoplasm and nucleus. [provided by Alliance of Genome Resources, Apr 2022] Orthologs mouse all
PABIR2, Official Symbol PABIR2provided by HGNC Official Full Name PABIR family member 2provided by HGNC Primary source HGNC:HGNC:30490 See related Ensembl:ENSG00000156504 AllianceGenome:HGNC:30490 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 FAM122B; SPACIA2 Summary Predicted to enable protein serine/threonine phosphatase inhibitor activity. Predicted to be involved in negative regulation of catalytic activity. Predicted to be part of collagen trimer. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in testis (RPKM 18.1), lymph node (RPKM 11.4) and 25 other tissues See more Orthologs mouse all
PABIR3, Official Symbol PABIR3provided by HGNC Official Full Name PABIR family member 3provided by HGNC Primary source HGNC:HGNC:25202 See related Ensembl:ENSG00000156500 AllianceGenome:HGNC:25202 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 FAM122C Summary Predicted to enable protein serine/threonine phosphatase inhibitor activity. Predicted to be involved in negative regulation of catalytic activity. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in testis (RPKM 1.5), ovary (RPKM 1.4) and 24 other tissues See more Orthologs mouse all
PABPC1, Official Symbol PABPC1provided by HGNC Official Full Name poly(A) binding protein cytoplasmic 1provided by HGNC Primary source HGNC:HGNC:8554 See related Ensembl:ENSG00000070756 MIM:604679; AllianceGenome:HGNC:8554 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 PAB1; PABP; PABP1; PABPC2; PABPL1 Summary This gene encodes a poly(A) binding protein. The protein shuttles between the nucleus and cytoplasm and binds to the 3' poly(A) tail of eukaryotic messenger RNAs via RNA-recognition motifs. The binding of this protein to poly(A) promotes ribosome recruitment and translation initiation; it is also required for poly(A) shortening which is the first step in mRNA decay. The gene is part of a small gene family including three protein-coding genes and several pseudogenes.[provided by RefSeq, Aug 2010] Expression Ubiquitous expression in esophagus (RPKM 345.6), urinary bladder (RPKM 280.1) and 25 other tissues See more Orthologs mouse all
PABPC1L, Official Symbol PABPC1Lprovided by HGNC Official Full Name poly(A) binding protein cytoplasmic 1 likeprovided by HGNC Primary source HGNC:HGNC:15797 See related Ensembl:ENSG00000101104 AllianceGenome:HGNC:15797 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 EPAB; PABPC1L1; C20orf119; dJ1069P2.3 Summary This gene belongs to the polyadenylate-binding protein type-1 family of proteins. Members of this family bind to the polyA tails of mRNAs to regulate mRNA stability and translation. The mouse ortholog of this gene is required for female fertility. In human, expression of a functional protein is regulated by alternative splicing. The protein-coding splice variant for this gene is abundantly expressed in human oocytes, while a noncoding splice variant subject to nonsense-mediated decay is the predominant splice variant expressed in somatic tissues. [provided by RefSeq, Aug 2019] Expression Ubiquitous expression in thyroid (RPKM 9.7), lymph node (RPKM 6.0) and 25 other tissues See more Orthologs mouse all
PABPC1L2A, Official Symbol PABPC1L2Aprovided by HGNC Official Full Name poly(A) binding protein cytoplasmic 1 like 2Aprovided by HGNC Primary source HGNC:HGNC:27989 See related Ensembl:ENSG00000186288 AllianceGenome:HGNC:27989 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 RBM32A Summary Predicted to enable RNA binding activity. Located in extracellular exosome. [provided by Alliance of Genome Resources, Apr 2022] Orthologs all
PABPC1L2B, Official Symbol PABPC1L2Bprovided by HGNC Official Full Name poly(A) binding protein cytoplasmic 1 like 2Bprovided by HGNC Primary source HGNC:HGNC:31852 See related Ensembl:ENSG00000184388 AllianceGenome:HGNC:31852 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 RBM32B Summary Predicted to enable RNA binding activity. Located in extracellular exosome. [provided by Alliance of Genome Resources, Apr 2022] Orthologs all
PABPC1L2B-AS1, Official Symbol PABPC1L2B-AS1provided by HGNC Official Full Name PABPC1L2B antisense RNA 1 (head to head)provided by HGNC Primary source HGNC:HGNC:50345 See related Ensembl:ENSG00000226725 AllianceGenome:HGNC:50345 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 prostate (RPKM 3.5), brain (RPKM 1.0) and 3 other tissues See more
PABPC1P10, Official Symbol PABPC1P10provided by HGNC Official Full Name poly(A) binding protein cytoplasmic 1 pseudogene 10provided by HGNC Primary source HGNC:HGNC:37992 See related MIM:173865; AllianceGenome:HGNC:37992 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 PAB1; PABPL1; D3S3192
PABPC1P11, Official Symbol PABPC1P11provided by HGNC Official Full Name poly(A) binding protein cytoplasmic 1 pseudogene 11provided by HGNC Primary source HGNC:HGNC:37993 See related AllianceGenome:HGNC:37993 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
PABPC1P4, Official Symbol PABPC1P4provided by HGNC Official Full Name poly(A) binding protein cytoplasmic 1 pseudogene 4provided by HGNC Primary source HGNC:HGNC:8563 See related MIM:604681; AllianceGenome:HGNC:8563 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 PABPL2; PABPCP5
PABPC3, Official Symbol PABPC3provided by HGNC Official Full Name poly(A) binding protein cytoplasmic 3provided by HGNC Primary source HGNC:HGNC:8556 See related Ensembl:ENSG00000151846 MIM:604680; AllianceGenome:HGNC:8556 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 PABP3; tPABP; PABPL3 Summary Messenger RNA stability and translation initiation are extensively under the control of poly(A)-binding proteins (PABP). See PABPC1 (MIM 604679) for background information.[supplied by OMIM, Jul 2002] Orthologs all
PABPC4, Official Symbol PABPC4provided by HGNC Official Full Name poly(A) binding protein cytoplasmic 4provided by HGNC Primary source HGNC:HGNC:8557 See related Ensembl:ENSG00000090621 MIM:603407; AllianceGenome:HGNC:8557 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 APP1; APP-1; PABP4; iPABP Summary Poly(A)-binding proteins (PABPs) bind to the poly(A) tail present at the 3-prime ends of most eukaryotic mRNAs. PABPC4 or IPABP (inducible PABP) was isolated as an activation-induced T-cell mRNA encoding a protein. Activation of T cells increased PABPC4 mRNA levels in T cells approximately 5-fold. PABPC4 contains 4 RNA-binding domains and proline-rich C terminus. PABPC4 is localized primarily to the cytoplasm. It is suggested that PABPC4 might be necessary for regulation of stability of labile mRNA species in activated T cells. PABPC4 was also identified as an antigen, APP1 (activated-platelet protein-1), expressed on thrombin-activated rabbit platelets. PABPC4 may also be involved in the regulation of protein translation in platelets and megakaryocytes or may participate in the binding or stabilization of polyadenylates in platelet dense granules. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. This protein has also been found to interact with coronavirus nucleocapsid proteins and is thought to inhibit coronavirus replication. [provided by RefSeq, Nov 2021] Annotation information Note: This gene has been reviewed for its involvement in coronavirus biology, and is involved in immune response or antiviral activity. Expression Ubiquitous expression in testis (RPKM 55.5), ovary (RPKM 46.1) and 25 other tissues See more Orthologs mouse all
PABPC4-AS1, Official Symbol PABPC4-AS1provided by HGNC Official Full Name PABPC4 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:40424 See related AllianceGenome:HGNC:40424 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Expression Ubiquitous expression in testis (RPKM 31.7), ovary (RPKM 25.5) and 25 other tissues See more
PABPC4L, Official Symbol PABPC4Lprovided by HGNC Official Full Name poly(A) binding protein cytoplasmic 4 likeprovided by HGNC Primary source HGNC:HGNC:31955 See related Ensembl:ENSG00000254535 AllianceGenome:HGNC:31955 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 mRNA 3'-UTR binding activity; poly(A) binding activity; and poly(U) RNA binding activity. Predicted to be part of ribonucleoprotein complex. Predicted to be active in cytoplasmic stress granule; cytosol; and nucleus. [provided by Alliance of Genome Resources, Apr 2022] Expression Low expression observed in reference dataset See more Orthologs mouse all
PABPC5, Official Symbol PABPC5provided by HGNC Official Full Name poly(A) binding protein cytoplasmic 5provided by HGNC Primary source HGNC:HGNC:13629 See related Ensembl:ENSG00000174740 MIM:300407; AllianceGenome:HGNC:13629 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 PABP5 Summary This gene encodes a protein that binds to the polyA tail found at the 3' end of most eukaryotic mRNAs. It is thought to play a role in the regulation of mRNA metabolic processes in the cytoplasm. This gene is located in a gene-poor region within the X-specific 13d-sY43 subinterval of the chromosome Xq21.3/Yp11.2 homology block. It is located close to translocation breakpoints associated with premature ovarian failure, and is therefore a potential candidate gene for this disorder. [provided by RefSeq, May 2010] Expression Broad expression in ovary (RPKM 5.4), adrenal (RPKM 4.2) and 18 other tissues See more Orthologs mouse all
PABPC5-AS1, Official Symbol PABPC5-AS1provided by HGNC Official Full Name PABPC5 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:31845 See related Ensembl:ENSG00000234161 AllianceGenome:HGNC:31845 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 CXorf46 Expression Low expression observed in reference dataset See more
PABPN1, Official Symbol PABPN1provided by HGNC Official Full Name poly(A) binding protein nuclear 1provided by HGNC Primary source HGNC:HGNC:8565 See related Ensembl:ENSG00000100836 MIM:602279; AllianceGenome:HGNC:8565 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 OPMD; PAB2; PABII; PABP2; PABP-2 Summary This gene encodes an abundant nuclear protein that binds with high affinity to nascent poly(A) tails. The protein is required for progressive and efficient polymerization of poly(A) tails at the 3' ends of eukaryotic transcripts and controls the size of the poly(A) tail to about 250 nt. At steady-state, this protein is localized in the nucleus whereas a different poly(A) binding protein is localized in the cytoplasm. This gene contains a GCG trinucleotide repeat at the 5' end of the coding region, and expansion of this repeat from the normal 6 copies to 8-13 copies leads to autosomal dominant oculopharyngeal muscular dystrophy (OPMD) disease. Related pseudogenes have been identified on chromosomes 19 and X. Read-through transcription also exists between this gene and the neighboring upstream BCL2-like 2 (BCL2L2) gene. [provided by RefSeq, Dec 2010] Expression Ubiquitous expression in testis (RPKM 38.5), spleen (RPKM 30.3) and 25 other tissues See more Orthologs all
PABPN1L, Official Symbol PABPN1Lprovided by HGNC Official Full Name PABPN1 like, cytoplasmicprovided by HGNC Primary source HGNC:HGNC:37237 See related Ensembl:ENSG00000205022 AllianceGenome:HGNC:37237 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 ePABP2; PABPNL1 Summary Predicted to enable RNA binding activity. Predicted to be located in cytoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in adrenal (RPKM 3.9), testis (RPKM 3.0) and 25 other tissues See more Orthologs mouse all
PABPN1P2, Official Symbol PABPN1P2provided by HGNC Official Full Name PABPN1 pseudogene 2provided by HGNC Primary source HGNC:HGNC:54989 See related AllianceGenome:HGNC:54989 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
PACC1, Official Symbol PACC1provided by HGNC Official Full Name proton activated chloride channel 1provided by HGNC Primary source HGNC:HGNC:25593 See related Ensembl:ENSG00000065600 MIM:618427; AllianceGenome:HGNC:25593 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 PAC; ASOR; hPAC; PAORAC; C1orf75; TMEM206; hTMEM206 Summary Enables pH-gated chloride channel activity. Involved in chloride transport. Is integral component of plasma membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in brain (RPKM 7.4), kidney (RPKM 4.2) and 23 other tissues See more Orthologs mouse all
PACERR, Official Symbol PACERRprovided by HGNC Official Full Name PTGS2 antisense NFKB1 complex-mediated expression regulator RNAprovided by HGNC Primary source HGNC:HGNC:50552 See related MIM:617650; AllianceGenome:HGNC:50552 Gene type ncRNA RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as PACER; PTGS2AS1; PTGS2-AS1 Summary This gene represents transcription of a long non-coding RNA produced in antisense to the prostaglandin-endoperoxide synthase 2 (PTGS2) gene. This transcript interacts with NF-kB transcriptional regulators to promote expression of PTGS2. [provided by RefSeq, Feb 2015]
PACRG, Official Symbol PACRGprovided by HGNC Official Full Name parkin coregulatedprovided by HGNC Primary source HGNC:HGNC:19152 See related Ensembl:ENSG00000112530 MIM:608427; AllianceGenome:HGNC:19152 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 GLUP; PACRG2.1; PARK2CRG; HAK005771 Summary This gene encodes a protein that is conserved across metazoans. In vertebrates, this gene is linked in a head-to-head arrangement with the adjacent parkin gene, which is associated with autosomal recessive juvenile Parkinson's disease. These genes are co-regulated in various tissues and they share a bi-directional promoter. Both genes are associated with susceptibility to leprosy. The parkin co-regulated gene protein forms a large molecular complex with chaperones, including heat shock proteins 70 and 90, and chaperonin components. This protein is also a component of Lewy bodies in Parkinson's disease patients, and it suppresses unfolded Pael receptor-induced neuronal cell death. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] Expression Low expression observed in reference dataset See more Orthologs mouse all
PACRG-AS1, Official Symbol PACRG-AS1provided by HGNC Official Full Name PACRG antisense RNA 1provided by HGNC Primary source HGNC:HGNC:27772 See related Ensembl:ENSG00000281692 AllianceGenome:HGNC:27772 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
PACRG-AS2, Official Symbol PACRG-AS2provided by HGNC Official Full Name PACRG antisense RNA 2provided by HGNC Primary source HGNC:HGNC:40871 See related Ensembl:ENSG00000225437 AllianceGenome:HGNC:40871 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Expression Restricted expression toward testis (RPKM 5.0) See more
PACRG-AS3, Official Symbol PACRG-AS3provided by HGNC Official Full Name PACRG antisense RNA 3provided by HGNC Primary source HGNC:HGNC:52053 See related Ensembl:ENSG00000225683 AllianceGenome:HGNC:52053 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 brain (RPKM 1.3) and testis (RPKM 0.5) See more
PACRGL, Official Symbol PACRGLprovided by HGNC Official Full Name parkin coregulated likeprovided by HGNC Primary source HGNC:HGNC:28442 See related Ensembl:ENSG00000163138 AllianceGenome:HGNC:28442 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 C4orf28 Expression Broad expression in brain (RPKM 3.7), testis (RPKM 3.2) and 24 other tissues See more Orthologs mouse all
PACS1, Official Symbol PACS1provided by HGNC Official Full Name phosphofurin acidic cluster sorting protein 1provided by HGNC Primary source HGNC:HGNC:30032 See related Ensembl:ENSG00000175115 MIM:607492; AllianceGenome:HGNC:30032 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 SHMS; MRD17 Summary This gene encodes a protein with a putative role in the localization of trans-Golgi network (TGN) membrane proteins. Mouse and rat homologs have been identified and studies of the homologous rat protein indicate a role in directing TGN localization of furin by binding to the protease's phosphorylated cytosolic domain. In addition, the human protein plays a role in HIV-1 Nef-mediated downregulation of cell surface MHC-I molecules to the TGN, thereby enabling HIV-1 to escape immune surveillance. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in testis (RPKM 20.8), lymph node (RPKM 16.2) and 25 other tissues See more Orthologs mouse all
PACS2, Official Symbol PACS2provided by HGNC Official Full Name phosphofurin acidic cluster sorting protein 2provided by HGNC Primary source HGNC:HGNC:23794 See related Ensembl:ENSG00000179364 MIM:610423; AllianceGenome:HGNC:23794 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 DEE66; EIEE66; PACS-2; PACS1L Summary Predicted to enable transmembrane transporter binding activity. Involved in endoplasmic reticulum calcium ion homeostasis; mitochondrion-endoplasmic reticulum membrane tethering; and protein localization to plasma membrane. Acts upstream of or within protein localization to phagophore assembly site. Located in endoplasmic reticulum and mitochondrion. Implicated in developmental and epileptic encephalopathy 66. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in brain (RPKM 15.4), testis (RPKM 10.2) and 25 other tissues See more Orthologs mouse all
PACSIN1, Official Symbol PACSIN1provided by HGNC Official Full Name protein kinase C and casein kinase substrate in neurons 1provided by HGNC Primary source HGNC:HGNC:8570 See related Ensembl:ENSG00000124507 MIM:606512; AllianceGenome:HGNC:8570 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 SDPI Summary Enables phospholipid binding activity. Involved in plasma membrane tubulation. Located in cytoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in brain (RPKM 42.1) and lymph node (RPKM 1.5) See more Orthologs mouse all
PACSIN2, Official Symbol PACSIN2provided by HGNC Official Full Name protein kinase C and casein kinase substrate in neurons 2provided by HGNC Primary source HGNC:HGNC:8571 See related Ensembl:ENSG00000100266 MIM:604960; AllianceGenome:HGNC:8571 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 SDPII Summary This gene is a member of the protein kinase C and casein kinase substrate in neurons family. The encoded protein is involved in linking the actin cytoskeleton with vesicle formation by regulating tubulin polymerization. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2010] Expression Ubiquitous expression in adrenal (RPKM 24.2), colon (RPKM 24.1) and 25 other tissues See more Orthologs mouse all
PACSIN3, Official Symbol PACSIN3provided by HGNC Official Full Name protein kinase C and casein kinase substrate in neurons 3provided by HGNC Primary source HGNC:HGNC:8572 See related Ensembl:ENSG00000165912 MIM:606513; AllianceGenome:HGNC:8572 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 SDPIII Summary This gene is a member of the protein kinase C and casein kinase substrate in neurons family. The encoded protein is involved in linking the actin cytoskeleton with vesicle formation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2010] Expression Broad expression in heart (RPKM 38.4), adrenal (RPKM 19.1) and 17 other tissues See more Orthologs mouse all
PADI1, Official Symbol PADI1provided by HGNC Official Full Name peptidyl arginine deiminase 1provided by HGNC Primary source HGNC:HGNC:18367 See related Ensembl:ENSG00000142623 MIM:607934; AllianceGenome:HGNC:18367 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 PDI; PAD1; PDI1; HPAD10 Summary This gene encodes a member of the peptidyl arginine deiminase family of enzymes, which catalyze the post-translational deimination of proteins by converting arginine residues into citrullines in the presence of calcium ions. The family members have distinct substrate specificities and tissue-specific expression patterns. The type I enzyme is involved in the late stages of epidermal differentiation, where it deiminates filaggrin and keratin K1, which maintains hydration of the stratum corneum, and hence the cutaneous barrier function. This enzyme may also play a role in hair follicle formation. This gene exists in a cluster with four other paralogous genes. [provided by RefSeq, Jul 2008] Expression Biased expression in esophagus (RPKM 30.8) and skin (RPKM 4.2) See more Orthologs mouse all
PADI2, Official Symbol PADI2provided by HGNC Official Full Name peptidyl arginine deiminase 2provided by HGNC Primary source HGNC:HGNC:18341 See related Ensembl:ENSG00000117115 MIM:607935; AllianceGenome:HGNC:18341 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 PAD2; PDI2; PAD-H19 Summary This gene encodes a member of the peptidyl arginine deiminase family of enzymes, which catalyze the post-translational deimination of proteins by converting arginine residues into citrullines in the presence of calcium ions. The family members have distinct substrate specificities and tissue-specific expression patterns. The type II enzyme is the most widely expressed family member. Known substrates for this enzyme include myelin basic protein in the central nervous system and vimentin in skeletal muscle and macrophages. This enzyme is thought to play a role in the onset and progression of neurodegenerative human disorders, including Alzheimer disease and multiple sclerosis, and it has also been implicated in glaucoma pathogenesis. This gene exists in a cluster with four other paralogous genes. [provided by RefSeq, Jul 2008] Expression Biased expression in colon (RPKM 47.2), brain (RPKM 33.8) and 6 other tissues See more Orthologs mouse all
PADI3, Official Symbol PADI3provided by HGNC Official Full Name peptidyl arginine deiminase 3provided by HGNC Primary source HGNC:HGNC:18337 See related Ensembl:ENSG00000142619 MIM:606755; AllianceGenome:HGNC:18337 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 PAD3; PDI3; UHS1 Summary This gene encodes a member of the peptidyl arginine deiminase family of enzymes, which catalyze the post-translational deimination of proteins by converting arginine residues into citrullines in the presence of calcium ions. The family members have distinct substrate specificities and tissue-specific expression patterns. The type III enzyme modulates hair structural proteins, such as filaggrin in the hair follicle and trichohyalin in the inner root sheath, during hair follicle formation. Together with the type I enzyme, this enzyme may also play a role in terminal differentiation of the epidermis. This gene exists in a cluster with four other paralogous genes. [provided by RefSeq, Jul 2008] Expression Biased expression in urinary bladder (RPKM 6.9) and esophagus (RPKM 2.4) See more Orthologs mouse all
PADI4, Official Symbol PADI4provided by HGNC Official Full Name peptidyl arginine deiminase 4provided by HGNC Primary source HGNC:HGNC:18368 See related Ensembl:ENSG00000159339 MIM:605347; AllianceGenome:HGNC:18368 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 PAD; PAD4; PDI4; PDI5; PADI5 Summary This gene is a member of a gene family which encodes enzymes responsible for the conversion of arginine residues to citrulline residues. This gene may play a role in granulocyte and macrophage development leading to inflammation and immune response. [provided by RefSeq, Jul 2008] Expression Restricted expression toward bone marrow (RPKM 64.4) See more Orthologs mouse all
PADI6, Official Symbol PADI6provided by HGNC Official Full Name peptidyl arginine deiminase 6provided by HGNC Primary source HGNC:HGNC:20449 See related Ensembl:ENSG00000276747 MIM:610363; AllianceGenome:HGNC:20449 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 hPADVI; OZEMA16; PREMBL2 Summary This gene encodes a member of the peptidyl arginine deiminase family of enzymes, which catalyze the post-translational deimination of proteins by converting arginine residues into citrullines in the presence of calcium ions. The family members have distinct substrate specificities and tissue-specific expression patterns. This protein may play a role in cytoskeletal reorganization in the egg and in early embryo development. [provided by RefSeq, Sep 2012] Expression Low expression observed in reference dataset See more Orthologs mouse all