psui3905/ncbi_genes_summary huggingface dataset:
COPS5, Official Symbol COPS5provided by HGNC Official Full Name COP9 signalosome subunit 5provided by HGNC Primary source HGNC:HGNC:2240 See related Ensembl:ENSG00000121022 MIM:604850; AllianceGenome:HGNC:2240 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 CSN5; JAB1; SGN5; MOV-34 Summary The protein encoded by this gene is one of the eight subunits of COP9 signalosome, a highly conserved protein complex that functions as an important regulator in multiple signaling pathways. The structure and function of COP9 signalosome is similar to that of the 19S regulatory particle of 26S proteasome. COP9 signalosome has been shown to interact with SCF-type E3 ubiquitin ligases and act as a positive regulator of E3 ubiquitin ligases. This protein is reported to be involved in the degradation of cyclin-dependent kinase inhibitor CDKN1B/p27Kip1. It is also known to be an coactivator that increases the specificity of JUN/AP1 transcription factors. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in testis (RPKM 37.3), heart (RPKM 32.6) and 25 other tissues See more Orthologs mouse all
COPS5P2, Official Symbol COPS5P2provided by HGNC Official Full Name COP9 signalosome subunit 5 pseudogene 2provided by HGNC Primary source HGNC:HGNC:45266 See related Ensembl:ENSG00000270445 AllianceGenome:HGNC:45266 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
COPS6, Official Symbol COPS6provided by HGNC Official Full Name COP9 signalosome subunit 6provided by HGNC Primary source HGNC:HGNC:21749 See related Ensembl:ENSG00000168090 MIM:614729; AllianceGenome:HGNC:21749 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 CSN6; MOV34-34KD Summary The protein encoded by this gene is one of the eight subunits of COP9 signalosome, a highly conserved protein complex that functions as an important regulator in multiple signaling pathways. The structure and function of COP9 signalosome is similar to that of the 19S regulatory particle of 26S proteasome. COP9 signalosome has been shown to interact with SCF-type E3 ubiquitin ligases and act as a positive regulator of E3 ubiquitin ligases. This protein belongs to translation initiation factor 3 (eIF3) superfamily. It is involved in the regulation of cell cycle and likely to be a cellular cofactor for HIV-1 accessory gene product Vpr. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in esophagus (RPKM 33.2), testis (RPKM 32.7) and 25 other tissues See more Orthologs mouse all
COPS7A, Official Symbol COPS7Aprovided by HGNC Official Full Name COP9 signalosome subunit 7Aprovided by HGNC Primary source HGNC:HGNC:16758 See related Ensembl:ENSG00000111652 MIM:616009; AllianceGenome:HGNC:16758 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 CSN7; CSN7A; SGN7a Summary This gene encodes a component of the COP9 signalosome, an evolutionarily conserved multi-subunit protease that regulates the activity of the ubiquitin conjugation pathway. Alternatively spliced transcript variants that encode the same protein have been described. [provided by RefSeq, Mar 2014] Expression Ubiquitous expression in brain (RPKM 27.2), thyroid (RPKM 23.7) and 25 other tissues See more Orthologs mouse all
COPS7B, Official Symbol COPS7Bprovided by HGNC Official Full Name COP9 signalosome subunit 7Bprovided by HGNC Primary source HGNC:HGNC:16760 See related Ensembl:ENSG00000144524 MIM:616010; AllianceGenome:HGNC:16760 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 CSN7B; SGN7b Summary Involved in protein deneddylation. Located in nucleoplasm. Part of COP9 signalosome. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in testis (RPKM 9.9), lymph node (RPKM 6.4) and 25 other tissues See more Orthologs mouse all
COPS8, Official Symbol COPS8provided by HGNC Official Full Name COP9 signalosome subunit 8provided by HGNC Primary source HGNC:HGNC:24335 See related Ensembl:ENSG00000198612 MIM:616011; AllianceGenome:HGNC:24335 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 COP9; CSN8; SGN8 Summary The protein encoded by this gene is one of the eight subunits of COP9 signalosome, a highly conserved protein complex that functions as an important regulator in multiple signaling pathways. The structure and function of COP9 signalosome is similar to that of the 19S regulatory particle of 26S proteasome. COP9 signalosome has been shown to interact with SCF-type E3 ubiquitin ligases and act as a positive regulator of E3 ubiquitin ligases. Alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in brain (RPKM 28.1), testis (RPKM 22.3) and 25 other tissues See more Orthologs mouse all
COPS8P1, Official Symbol COPS8P1provided by HGNC Official Full Name COP9 signalosome subunit 8 pseudogene 1provided by HGNC Primary source HGNC:HGNC:45269 See related AllianceGenome:HGNC:45269 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 BA345E19.2
COPS8P3, Official Symbol COPS8P3provided by HGNC Official Full Name COP9 signalosome subunit 8 pseudogene 3provided by HGNC Primary source HGNC:HGNC:45271 See related Ensembl:ENSG00000254697 AllianceGenome:HGNC:45271 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
COPS9, Official Symbol COPS9provided by HGNC Official Full Name COP9 signalosome subunit 9provided by HGNC Primary source HGNC:HGNC:21314 See related Ensembl:ENSG00000172428 MIM:619349; AllianceGenome:HGNC:21314 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 CSNAP; MYEOV2 Summary Involved in several processes, including cellular response to UV; cytoplasmic sequestering of protein; and negative regulation of protein neddylation. Located in chromatin; cytoplasm; and nucleoplasm. Colocalizes with COP9 signalosome. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in brain (RPKM 12.9), fat (RPKM 12.7) and 25 other tissues See more Orthologs mouse all
COPZ1, Official Symbol COPZ1provided by HGNC Official Full Name COPI coat complex subunit zeta 1provided by HGNC Primary source HGNC:HGNC:2243 See related Ensembl:ENSG00000111481 MIM:615472; AllianceGenome:HGNC:2243 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 COPZ; CGI-120; HSPC181; zeta-COP; zeta1-COP Summary This gene encodes a subunit of the cytoplasmic coatamer protein complex, which is involved in autophagy and intracellular protein trafficking. The coatomer protein complex is comprised of seven subunits and functions as the coat protein of coat protein complex (COP)I-vesicles. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2012] Expression Ubiquitous expression in thyroid (RPKM 49.0), colon (RPKM 30.9) and 25 other tissues See more Orthologs mouse all
COPZ2, Official Symbol COPZ2provided by HGNC Official Full Name COPI coat complex subunit zeta 2provided by HGNC Primary source HGNC:HGNC:19356 See related Ensembl:ENSG00000005243 MIM:615526; AllianceGenome:HGNC:19356 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 zeta2-COP Summary This gene encodes a member of the adaptor complexes small subunit family. The encoded protein is a subunit of the coatomer protein complex, a seven-subunit complex that functions in the formation of COPI-type, non-clathrin-coated vesicles. COPI vesicles function in the retrograde Golgi-to-ER transport of dilysine-tagged proteins. [provided by RefSeq, Feb 2014] Expression Broad expression in fat (RPKM 13.1), prostate (RPKM 4.4) and 22 other tissues See more Orthologs mouse all
COQ10A, Official Symbol COQ10Aprovided by HGNC Official Full Name coenzyme Q10Aprovided by HGNC Primary source HGNC:HGNC:26515 See related Ensembl:ENSG00000135469 AllianceGenome:HGNC:26515 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 ubiquinone binding activity. Predicted to be involved in cellular respiration and ubiquinone biosynthetic process. Predicted to be located in mitochondrial inner membrane. Predicted to be active in mitochondrion. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in heart (RPKM 31.5), adrenal (RPKM 13.0) and 20 other tissues See more Orthologs mouse all
COQ10B, Official Symbol COQ10Bprovided by HGNC Official Full Name coenzyme Q10Bprovided by HGNC Primary source HGNC:HGNC:25819 See related Ensembl:ENSG00000115520 AllianceGenome:HGNC:25819 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 ubiquinone binding activity. Predicted to be involved in cellular respiration and ubiquinone biosynthetic process. Predicted to be located in mitochondrial inner membrane. Predicted to be active in mitochondrion. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in adrenal (RPKM 15.0), bone marrow (RPKM 11.9) and 25 other tissues See more Orthologs mouse all
COQ2, Official Symbol COQ2provided by HGNC Official Full Name coenzyme Q2, polyprenyltransferaseprovided by HGNC Primary source HGNC:HGNC:25223 See related Ensembl:ENSG00000173085 MIM:609825; AllianceGenome:HGNC:25223 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 MSA1; CL640; COQ10D1; PHB:PPT Summary This gene encodes an enzyme that functions in the final steps in the biosynthesis of CoQ (ubiquinone), a redox carrier in the mitochondrial respiratory chain and a lipid-soluble antioxidant. This enzyme, which is part of the coenzyme Q10 pathway, catalyzes the prenylation of parahydroxybenzoate with an all-trans polyprenyl group. Mutations in this gene cause coenzyme Q10 deficiency, a mitochondrial encephalomyopathy, and also COQ2 nephropathy, an inherited form of mitochondriopathy with primary renal involvement. [provided by RefSeq, Oct 2009] Expression Ubiquitous expression in adrenal (RPKM 2.9), colon (RPKM 2.1) and 25 other tissues See more Orthologs mouse all
COQ3, Official Symbol COQ3provided by HGNC Official Full Name coenzyme Q3, methyltransferaseprovided by HGNC Primary source HGNC:HGNC:18175 See related Ensembl:ENSG00000132423 MIM:605196; AllianceGenome:HGNC:18175 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 DHHBMT; bA9819.1; DHHBMTASE; UG0215E05 Summary Ubiquinone, also known as coenzyme Q, or Q, is a critical component of the electron transport pathways of both eukaryotes and prokaryotes (Jonassen and Clarke, 2000 [PubMed 10777520]). This lipid consists of a hydrophobic isoprenoid tail and a quinone head group. The tail varies in length depending on the organism, but its purpose is to anchor coenzyme Q to the membrane. The quinone head group is responsible for the activity of coenzyme Q in the respiratory chain. The S. cerevisiae COQ3 gene encodes an O-methyltransferase required for 2 steps in the biosynthetic pathway of coenzyme Q. This enzyme methylates an early coenzyme Q intermediate, 3,4-dihydroxy-5-polyprenylbenzoic acid, as well as the final intermediate in the pathway, converting demethyl-ubiquinone to coenzyme Q. The COQ3 gene product is also capable of methylating the distinct prokaryotic early intermediate 2-hydroxy-6-polyprenyl phenol.[supplied by OMIM, Mar 2008] Expression Ubiquitous expression in heart (RPKM 8.1), brain (RPKM 3.9) and 25 other tissues See more Orthologs mouse all
COQ4, Official Symbol COQ4provided by HGNC Official Full Name coenzyme Q4provided by HGNC Primary source HGNC:HGNC:19693 See related Ensembl:ENSG00000167113 MIM:612898; AllianceGenome:HGNC:19693 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 CGI-92; COQ10D7 Summary This gene encodes a component of the coenzyme Q biosynthesis pathway. Coenzyme Q, an essential component of the electron transport chain, shuttles electrons between complexes I or II to complex III of the mitochondrial transport chain. This protein appears to play a structural role in stabilizing a complex that contains most of the coenzyme Q biosynthesis enzymes. Mutations in this gene are associated with mitochondrial disorders linked to coenzyme Q deficiency. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015] Expression Ubiquitous expression in duodenum (RPKM 20.6), thyroid (RPKM 18.4) and 25 other tissues See more Orthologs mouse all
COQ5, Official Symbol COQ5provided by HGNC Official Full Name coenzyme Q5, methyltransferaseprovided by HGNC Primary source HGNC:HGNC:28722 See related Ensembl:ENSG00000110871 MIM:616359; AllianceGenome:HGNC:28722 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 COQ10D9 Summary Enables 2-octaprenyl-6-methoxy-1,4-benzoquinone methylase activity. Involved in methylation and ubiquinone biosynthetic process. Located in mitochondrial matrix. Part of protein-containing complex. Colocalizes with mitochondrial inner membrane. Implicated in primary coenzyme Q10 deficiency 9. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in kidney (RPKM 15.5), liver (RPKM 13.7) and 25 other tissues See more Orthologs mouse all
COQ6, Official Symbol COQ6provided by HGNC Official Full Name coenzyme Q6, monooxygenaseprovided by HGNC Primary source HGNC:HGNC:20233 See related Ensembl:ENSG00000119723 MIM:614647; AllianceGenome:HGNC:20233 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 CGI10; CGI-10; COQ10D6 Summary The protein encoded by this gene belongs to the ubiH/COQ6 family. It is an evolutionarily conserved monooxygenase required for the biosynthesis of coenzyme Q10 (or ubiquinone), which is an essential component of the mitochondrial electron transport chain, and one of the most potent lipophilic antioxidants implicated in the protection of cell damage by reactive oxygen species. Knockdown of this gene in mouse and zebrafish results in decreased growth due to increased apoptosis. Mutations in this gene are associated with autosomal recessive coenzyme Q10 deficiency-6 (COQ10D6), which manifests as nephrotic syndrome with sensorineural deafness. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jun 2012] Expression Ubiquitous expression in adrenal (RPKM 8.7), testis (RPKM 8.2) and 25 other tissues See more Orthologs mouse all
COQ7, Official Symbol COQ7provided by HGNC Official Full Name coenzyme Q7, hydroxylaseprovided by HGNC Primary source HGNC:HGNC:2244 See related Ensembl:ENSG00000167186 MIM:601683; AllianceGenome:HGNC:2244 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 CAT5; CLK1; CLK-1; COQ10D8 Summary The protein encoded by this gene is similar to a mitochondrial di-iron containing hydroxylase in Saccharomyces cerevisiae that is involved with ubiquinone biosynthesis. Mutations in the yeast gene lead to slower development and longer life span. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2010] Expression Ubiquitous expression in prostate (RPKM 5.8), thyroid (RPKM 5.3) and 25 other tissues See more Orthologs mouse all
COQ7-DT, Official Symbol COQ7-DTprovided by HGNC Official Full Name COQ7 divergent transcriptprovided by HGNC Primary source HGNC:HGNC:55362 See related Ensembl:ENSG00000261465 AllianceGenome:HGNC:55362 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Expression Broad expression in brain (RPKM 6.3), urinary bladder (RPKM 3.8) and 15 other tissues See more
COQ8A, Official Symbol COQ8Aprovided by HGNC Official Full Name coenzyme Q8Aprovided by HGNC Primary source HGNC:HGNC:16812 See related Ensembl:ENSG00000163050 MIM:606980; AllianceGenome:HGNC:16812 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 COQ8; ADCK3; ARCA2; CABC1; SCAR9; COQ10D4 Summary This gene encodes a mitochondrial protein similar to yeast ABC1, which functions in an electron-transferring membrane protein complex in the respiratory chain. It is not related to the family of ABC transporter proteins. Expression of this gene is induced by the tumor suppressor p53 and in response to DNA damage, and inhibiting its expression partially suppresses p53-induced apoptosis. Alternatively spliced transcript variants have been found; however, their full-length nature has not been determined. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in fat (RPKM 53.1), adrenal (RPKM 33.1) and 25 other tissues See more Orthologs mouse all
COQ8B, Official Symbol COQ8Bprovided by HGNC Official Full Name coenzyme Q8Bprovided by HGNC Primary source HGNC:HGNC:19041 See related Ensembl:ENSG00000123815 MIM:615567; AllianceGenome:HGNC:19041 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 ADCK4; NPHS9 Summary This gene encodes a protein with two copies of a domain found in protein kinases. The encoded protein has a complete protein kinase catalytic domain, and a truncated domain that contains only the active and binding sites of the protein kinase domain, however, it is not known whether the protein has any kinase activity. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011] Expression Ubiquitous expression in prostate (RPKM 8.5), testis (RPKM 8.4) and 25 other tissues See more Orthologs mouse all
COQ9, Official Symbol COQ9provided by HGNC Official Full Name coenzyme Q9provided by HGNC Primary source HGNC:HGNC:25302 See related Ensembl:ENSG00000088682 MIM:612837; AllianceGenome:HGNC:25302 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 COQ10D5; C16orf49 Summary This locus represents a mitochondrial ubiquinone biosynthesis gene. The encoded protein is likely necessary for biosynthesis of coenzyme Q10, as mutations at this locus have been associated with autosomal-recessive neonatal-onset primary coenzyme Q10 deficiency.[provided by RefSeq, Sep 2010] Expression Ubiquitous expression in heart (RPKM 47.9), kidney (RPKM 39.3) and 25 other tissues See more Orthologs mouse all
CORIN, Official Symbol CORINprovided by HGNC Official Full Name corin, serine peptidaseprovided by HGNC Primary source HGNC:HGNC:19012 See related Ensembl:ENSG00000145244 MIM:605236; AllianceGenome:HGNC:19012 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 CRN; ATC2; Lrp4; PEE5; TMPRSS10 Summary This gene encodes a member of the type II transmembrane serine protease class of the trypsin superfamily. Members of this family are composed of multiple structurally distinct domains. The encoded protein converts pro-atrial natriuretic peptide to biologically active atrial natriuretic peptide, a cardiac hormone that regulates blood volume and pressure. This protein may also function as a pro-brain-type natriuretic peptide convertase. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2013] Expression Biased expression in heart (RPKM 20.5), skin (RPKM 3.4) and 2 other tissues See more Orthologs mouse all
CORO1A, Official Symbol CORO1Aprovided by HGNC Official Full Name coronin 1Aprovided by HGNC Primary source HGNC:HGNC:2252 See related Ensembl:ENSG00000102879 MIM:605000; AllianceGenome:HGNC:2252 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 p57; IMD8; TACO; CLABP; HCORO1; CLIPINA Summary This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. Alternative splicing results in multiple transcript variants. A related pseudogene has been defined on chromosome 16. [provided by RefSeq, Sep 2010] Expression Biased expression in lymph node (RPKM 216.7), bone marrow (RPKM 179.6) and 10 other tissues See more Orthologs mouse all
CORO1B, Official Symbol CORO1Bprovided by HGNC Official Full Name coronin 1Bprovided by HGNC Primary source HGNC:HGNC:2253 See related Ensembl:ENSG00000172725 MIM:609849; AllianceGenome:HGNC:2253 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 CORONIN-2 Summary Members of the coronin family, such as CORO1B, are WD repeat-containing actin-binding proteins that regulate cell motility (Cai et al., 2005 [PubMed 16027158]).[supplied by OMIM, Mar 2008] Expression Ubiquitous expression in prostate (RPKM 38.7), spleen (RPKM 34.9) and 25 other tissues See more Orthologs mouse all
CORO1C, Official Symbol CORO1Cprovided by HGNC Official Full Name coronin 1Cprovided by HGNC Primary source HGNC:HGNC:2254 See related Ensembl:ENSG00000110880 MIM:605269; AllianceGenome:HGNC:2254 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 HCRNN4 Summary This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Feb 2013] Expression Ubiquitous expression in endometrium (RPKM 30.8), lung (RPKM 27.0) and 24 other tissues See more Orthologs mouse all
CORO1CP1, Official Symbol CORO1CP1provided by HGNC Official Full Name CORO1C pseudogene 1provided by HGNC Primary source HGNC:HGNC:55002 See related Ensembl:ENSG00000270268 AllianceGenome:HGNC:55002 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
CORO2A, Official Symbol CORO2Aprovided by HGNC Official Full Name coronin 2Aprovided by HGNC Primary source HGNC:HGNC:2255 See related Ensembl:ENSG00000106789 MIM:602159; AllianceGenome:HGNC:2255 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 IR10; WDR2; CLIPINB Summary This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. This protein contains 5 WD repeats, and has a structural similarity with actin-binding proteins: the D. discoideum coronin and the human p57 protein, suggesting that this protein may also be an actin-binding protein that regulates cell motility. Alternative splicing of this gene generates 2 transcript variants. [provided by RefSeq, Jul 2008] Expression Broad expression in small intestine (RPKM 15.5), duodenum (RPKM 14.7) and 16 other tissues See more Orthologs mouse all
CORO2B, Official Symbol CORO2Bprovided by HGNC Official Full Name coronin 2Bprovided by HGNC Primary source HGNC:HGNC:2256 See related Ensembl:ENSG00000103647 MIM:605002; AllianceGenome:HGNC:2256 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 CLIPINC Summary Enables talin binding activity and vinculin binding activity. Acts upstream of or within several processes, including negative regulation of cell-substrate adhesion; regulation of actin cytoskeleton organization; and regulation of establishment of protein localization. Located in focal adhesion. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in brain (RPKM 22.9), ovary (RPKM 6.5) and 11 other tissues See more Orthologs mouse all
CORO6, Official Symbol CORO6provided by HGNC Official Full Name coronin 6provided by HGNC Primary source HGNC:HGNC:21356 See related Ensembl:ENSG00000167549 AllianceGenome:HGNC:21356 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 ClipinE Summary Predicted to enable actin filament binding activity. Predicted to be involved in actin filament organization and cell migration. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in heart (RPKM 15.3), placenta (RPKM 14.7) and 12 other tissues See more Orthologs mouse all
CORO7, Official Symbol CORO7provided by HGNC Official Full Name coronin 7provided by HGNC Primary source HGNC:HGNC:26161 See related Ensembl:ENSG00000262246 MIM:611668; AllianceGenome:HGNC:26161 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 CRN7; POD1; 0610011B16Rik Summary This gene encodes a member of the coronin protein family. However, unlike other coronin proteins, it is not an actin-binding protein but rather functions as an F-actin regulator directing anterograde Golgi to endosome transport. The encoded protein has two tandem WD-40 domain repeats and localizes to the trans-Golgi network. The protein undergoes K33-linked polyubiquitination via an E3 ligase complex. It is thought to play an essential role in maintenance of Golgi apparatus morphology. Alternative splicing results in multiple transcripts variants; some of which form read-through transcripts with a neighboring gene. [provided by RefSeq, Dec 2016] Expression Broad expression in bone marrow (RPKM 25.2), spleen (RPKM 18.8) and 24 other tissues See more Orthologs mouse all
CORO7-PAM16, Official Symbol CORO7-PAM16provided by HGNC Official Full Name CORO7-PAM16 readthroughprovided by HGNC Primary source HGNC:HGNC:44424 See related Ensembl:ENSG00000103426 AllianceGenome:HGNC:44424 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 Crn7; CORO7; Coronin-7 Summary This locus represents naturally occurring read-through transcription between the neighboring CORO7 (coronin 7) and PAM16 (presequence translocase-associated motor 16) genes on chromosome 16. The read-through transcript encodes a fusion protein that shares sequence identity with each individual gene product. [provided by RefSeq, Jan 2011] Expression Broad expression in bone marrow (RPKM 21.4), spleen (RPKM 16.2) and 24 other tissues See more Orthologs all
CORT, Official Symbol CORTprovided by HGNC Official Full Name cortistatinprovided by HGNC Primary source HGNC:HGNC:2257 See related Ensembl:ENSG00000241563 MIM:602784; AllianceGenome:HGNC:2257 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 SST2; CST-14; CST-17; CST-29 Summary This gene encodes a neuropeptide that is structurally similar to somatostatin. It binds to all known somatostatin receptors, and shares many pharmacological and functional properties with somatostatin, including the depression of neuronal activity. However, it also has many properties distinct from somatostatin, such as induction of slow-wave sleep, apparently by antagonism of the excitatory effects of acetylcholine on the cortex, reduction of locomotor activity, and activation of cation selective currents not responsive to somatostatin. The preproprotein undergoes further processing into multiple mature products. Read-through transcripts exist between this gene and the upstream APITD1 (apoptosis-inducing, TAF9-like domain 1) gene, as represented in GeneID:100526739. [provided by RefSeq, Nov 2010] Expression Biased expression in brain (RPKM 6.6), testis (RPKM 2.0) and 1 other tissue See more Orthologs mouse all
COSMOC, Official Symbol COSMOCprovided by HGNC Official Full Name cell fate and sterol metabolism associated divergent transcript of MOCOSprovided by HGNC Primary source HGNC:HGNC:51610 See related Ensembl:ENSG00000260552 AllianceGenome:HGNC:51610 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Expression Ubiquitous expression in ovary (RPKM 4.9), small intestine (RPKM 4.3) and 23 other tissues See more
COTL1, Official Symbol COTL1provided by HGNC Official Full Name coactosin like F-actin binding protein 1provided by HGNC Primary source HGNC:HGNC:18304 See related Ensembl:ENSG00000103187 MIM:606748; AllianceGenome:HGNC:18304 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 CLP Summary This gene encodes one of the numerous actin-binding proteins which regulate the actin cytoskeleton. This protein binds F-actin, and also interacts with 5-lipoxygenase, which is the first committed enzyme in leukotriene biosynthesis. Although this gene has been reported to map to chromosome 17 in the Smith-Magenis syndrome region, the best alignments for this gene are to chromosome 16. The Smith-Magenis syndrome region is the site of two related pseudogenes. [provided by RefSeq, Jul 2008] Expression Broad expression in lymph node (RPKM 178.3), appendix (RPKM 165.6) and 20 other tissues See more Orthologs mouse all
COX10, Official Symbol COX10provided by HGNC Official Full Name cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10provided by HGNC Primary source HGNC:HGNC:2260 See related Ensembl:ENSG00000006695 MIM:602125; AllianceGenome:HGNC:2260 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 MC4DN3 Summary Cytochrome c oxidase (COX), the terminal component of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. This component is a heteromeric complex consisting of 3 catalytic subunits encoded by mitochondrial genes and multiple structural subunits encoded by nuclear genes. The mitochondrially-encoded subunits function in electron transfer, and the nuclear-encoded subunits may function in the regulation and assembly of the complex. This nuclear gene encodes heme A:farnesyltransferase, which is not a structural subunit but required for the expression of functional COX and functions in the maturation of the heme A prosthetic group of COX. This protein is predicted to contain 7-9 transmembrane domains localized in the mitochondrial inner membrane. A gene mutation, which results in the substitution of a lysine for an asparagine (N204K), is identified to be responsible for cytochrome c oxidase deficiency. In addition, this gene is disrupted in patients with CMT1A (Charcot-Marie-Tooth type 1A) duplication and with HNPP (hereditary neuropathy with liability to pressure palsies) deletion. [provided by RefSeq, Jul 2008] Expression Broad expression in testis (RPKM 12.8), heart (RPKM 8.8) and 25 other tissues See more Orthologs mouse all
COX11, Official Symbol COX11provided by HGNC Official Full Name cytochrome c oxidase copper chaperone COX11provided by HGNC Primary source HGNC:HGNC:2261 See related Ensembl:ENSG00000166260 MIM:603648; AllianceGenome:HGNC:2261 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 COX11P; MC4DN23 Summary Cytochrome c oxidase (COX), the terminal component of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. This component is a heteromeric complex consisting of 3 catalytic subunits encoded by mitochondrial genes and multiple structural subunits encoded by nuclear genes. The mitochondrially-encoded subunits function in electron transfer, and the nuclear-encoded subunits may function in the regulation and assembly of the complex. This nuclear gene encodes a protein which is not a structural subunit, but may be a heme A biosynthetic enzyme involved in COX formation, according to the yeast mutant studies. However, the studies in Rhodobacter sphaeroides suggest that this gene is not required for heme A biosynthesis, but required for stable formation of the Cu(B) and magnesium centers of COX. This human protein is predicted to contain a transmembrane domain localized in the mitochondrial inner membrane. Multiple transcript variants encoding different isoforms have been found for this gene. A related pseudogene has been found on chromosome 6. [provided by RefSeq, Jun 2009] Expression Ubiquitous expression in duodenum (RPKM 10.0), kidney (RPKM 6.9) and 25 other tissues See more Orthologs mouse all
COX14, Official Symbol COX14provided by HGNC Official Full Name cytochrome c oxidase assembly factor COX14provided by HGNC Primary source HGNC:HGNC:28216 See related Ensembl:ENSG00000178449 MIM:614478; AllianceGenome:HGNC:28216 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 PCAG1; MC4DN10; C12orf62 Summary This gene encodes a small single-pass transmembrane protein that localizes to mitochondria. This protein may play a role in coordinating the early steps of cytochrome c oxidase (COX; also known as complex IV) subunit assembly and, in particular, the synthesis and assembly of the COX I subunit of the holoenzyme. Mutations in this gene have been associated with mitochondrial complex IV deficiency. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2012] Expression Ubiquitous expression in fat (RPKM 29.8), heart (RPKM 27.0) and 25 other tissues See more Orthologs mouse all
COX15, Official Symbol COX15provided by HGNC Official Full Name cytochrome c oxidase assembly homolog COX15provided by HGNC Primary source HGNC:HGNC:2263 See related Ensembl:ENSG00000014919 MIM:603646; AllianceGenome:HGNC:2263 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 MC4DN6; CEMCOX2 Summary Cytochrome c oxidase (COX), the terminal component of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. This component is a heteromeric complex consisting of 3 catalytic subunits encoded by mitochondrial genes and multiple structural subunits encoded by nuclear genes. The mitochondrially-encoded subunits function in electron transfer, and the nuclear-encoded subunits may function in the regulation and assembly of the complex. This nuclear gene encodes a protein which is not a structural subunit, but may be essential for the biogenesis of COX formation and may function in the hydroxylation of heme O, according to the yeast mutant studies. This protein is predicted to contain 5 transmembrane domains localized in the mitochondrial inner membrane. Alternative splicing of this gene generates two transcript variants diverging in the 3' region. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in adrenal (RPKM 6.2), kidney (RPKM 6.1) and 25 other tissues See more Orthologs mouse all
COX16, Official Symbol COX16provided by HGNC Official Full Name cytochrome c oxidase assembly factor COX16provided by HGNC Primary source HGNC:HGNC:20213 See related Ensembl:ENSG00000133983 MIM:618064; AllianceGenome:HGNC:20213 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 hCOX16; HSPC203; MC4DN22; C14orf112 Summary Involved in mitochondrial cytochrome c oxidase assembly. Is integral component of mitochondrial inner membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in colon (RPKM 14.7), adrenal (RPKM 14.7) and 25 other tissues See more Orthologs mouse all
COX17, Official Symbol COX17provided by HGNC Official Full Name cytochrome c oxidase copper chaperone COX17provided by HGNC Primary source HGNC:HGNC:2264 See related Ensembl:ENSG00000138495 MIM:604813; AllianceGenome:HGNC:2264 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 Cytochrome c oxidase (COX), the terminal component of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. This component is a heteromeric complex consisting of 3 catalytic subunits encoded by mitochondrial genes and multiple structural subunits encoded by nuclear genes. The mitochondrially-encoded subunits function in electron transfer, and the nuclear-encoded subunits may function in the regulation and assembly of the complex. This nuclear gene encodes a protein which is not a structural subunit, but may be involved in the recruitment of copper to mitochondria for incorporation into the COX apoenzyme. This protein shares 92% amino acid sequence identity with mouse and rat Cox17 proteins. This gene is no longer considered to be a candidate gene for COX deficiency. A pseudogene COX17P has been found on chromosome 13. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in heart (RPKM 52.4), adrenal (RPKM 37.4) and 25 other tissues See more Orthologs mouse all
COX18, Official Symbol COX18provided by HGNC Official Full Name cytochrome c oxidase assembly factor COX18provided by HGNC Primary source HGNC:HGNC:26801 See related Ensembl:ENSG00000163626 MIM:610428; AllianceGenome:HGNC:26801 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 OXA1L2; COX18HS Summary This gene encodes a cytochrome c oxidase assembly protein. The encoded protein is essential for integral membrane protein insertion into the mitochondrial inner membrane. It is also required for cytochrome c oxidase assembly and activity. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014] Expression Ubiquitous expression in kidney (RPKM 3.3), adrenal (RPKM 2.9) and 25 other tissues See more Orthologs mouse all
COX19, Official Symbol COX19provided by HGNC Official Full Name cytochrome c oxidase assembly factor COX19provided by HGNC Primary source HGNC:HGNC:28074 See related Ensembl:ENSG00000240230 MIM:610429; AllianceGenome:HGNC:28074 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 COX19 encodes a cytochrome c oxidase (COX)-assembly protein. The S. cerevisiae Cox19 protein may play a role in metal transport to the mitochondrial intermembrane space and assembly of complex IV of the mitochondrial respiratory chain (Sacconi et al., 2005 [PubMed 16212937]).[supplied by OMIM, Mar 2008] Expression Ubiquitous expression in skin (RPKM 2.7), duodenum (RPKM 2.6) and 25 other tissues See more Orthologs mouse all
COX20, Official Symbol COX20provided by HGNC Official Full Name cytochrome c oxidase assembly factor COX20provided by HGNC Primary source HGNC:HGNC:26970 See related Ensembl:ENSG00000203667 MIM:614698; AllianceGenome:HGNC:26970 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 FAM36A; MC4DN11 Summary This gene encodes a protein that plays a role in the assembly of cytochrome C oxidase, an important component of the respiratory pathway. It contains two transmembrane helices and localizes to the mitochondrial membrane. Mutations in this gene can cause mitochondrial complex IV deficiency, which results in ataxia and muscle hypotonia. There are multiple pseudogenes for this gene. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2015] Expression Ubiquitous expression in thyroid (RPKM 25.6), kidney (RPKM 25.6) and 25 other tissues See more Orthologs mouse all
COX20P1, Official Symbol COX20P1provided by HGNC Official Full Name COX20 pseudogene 1provided by HGNC Primary source HGNC:HGNC:31435 See related AllianceGenome:HGNC:31435 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 FAM36B; bA119F7.2
COX4I1, Official Symbol COX4I1provided by HGNC Official Full Name cytochrome c oxidase subunit 4I1provided by HGNC Primary source HGNC:HGNC:2265 See related Ensembl:ENSG00000131143 MIM:123864; AllianceGenome:HGNC:2265 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 COX4; COXIV; COX4-1; COXIV-1; MC4DN16; COX IV-1 Summary Cytochrome c oxidase (COX) is the terminal enzyme of the mitochondrial respiratory chain. It is a multi-subunit enzyme complex that couples the transfer of electrons from cytochrome c to molecular oxygen and contributes to a proton electrochemical gradient across the inner mitochondrial membrane. The complex consists of 13 mitochondrial- and nuclear-encoded subunits. The mitochondrially-encoded subunits perform the electron transfer and proton pumping activities. The functions of the nuclear-encoded subunits are unknown but they may play a role in the regulation and assembly of the complex. This gene encodes the nuclear-encoded subunit IV isoform 1 of the human mitochondrial respiratory chain enzyme. It is located at the 3' of the NOC4 (neighbor of COX4) gene in a head-to-head orientation, and shares a promoter with it. Pseudogenes related to this gene are located on chromosomes 13 and 14. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2016] Expression Ubiquitous expression in heart (RPKM 267.7), duodenum (RPKM 151.5) and 25 other tissues See more Orthologs mouse all