psui3905/ncbi_genes_summary huggingface dataset:
COX4I1P1, Official Symbol COX4I1P1provided by HGNC Official Full Name cytochrome c oxidase subunit 4I1 pseudogene 1provided by HGNC Primary source HGNC:HGNC:2266 See related AllianceGenome:HGNC:2266 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 COX4L1; COX4P1
COX4I1P2, Official Symbol COX4I1P2provided by HGNC Official Full Name cytochrome c oxidase subunit 4I1 pseudogene 2provided by HGNC Primary source HGNC:HGNC:38036 See related Ensembl:ENSG00000228869 AllianceGenome:HGNC:38036 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
COX4I2, Official Symbol COX4I2provided by HGNC Official Full Name cytochrome c oxidase subunit 4I2provided by HGNC Primary source HGNC:HGNC:16232 See related Ensembl:ENSG00000131055 MIM:607976; AllianceGenome:HGNC:16232 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; COX4B; COX4-2; COX4L2; COXIV-2; dJ857M17.2 Summary Cytochrome c oxidase (COX), the terminal enzyme of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. It 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 be involved in the regulation and assembly of the complex. This nuclear gene encodes isoform 2 of subunit IV. Isoform 1 of subunit IV is encoded by a different gene, however, the two genes show a similar structural organization. Subunit IV is the largest nuclear encoded subunit which plays a pivotal role in COX regulation. [provided by RefSeq, Jul 2008] Expression Biased expression in placenta (RPKM 32.5), lung (RPKM 10.0) and 6 other tissues See more Orthologs mouse all
COX5A, Official Symbol COX5Aprovided by HGNC Official Full Name cytochrome c oxidase subunit 5Aprovided by HGNC Primary source HGNC:HGNC:2267 See related Ensembl:ENSG00000178741 MIM:603773; AllianceGenome:HGNC:2267 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 VA; COX; COX-VA; MC4DN20 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 of 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 Va of the human mitochondrial respiratory chain enzyme. A pseudogene COX5AP1 has been found in chromosome 14q22. [provided by RefSeq, Jul 2008] Expression Broad expression in heart (RPKM 144.5), colon (RPKM 144.4) and 25 other tissues See more Orthologs mouse all
COX5B, Official Symbol COX5Bprovided by HGNC Official Full Name cytochrome c oxidase subunit 5Bprovided by HGNC Primary source HGNC:HGNC:2269 See related Ensembl:ENSG00000135940 MIM:123866; AllianceGenome:HGNC:2269 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 COXVB 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 Vb of the human mitochondrial respiratory chain enzyme. [provided by RefSeq, Jul 2008] Expression Broad expression in colon (RPKM 200.2), kidney (RPKM 188.7) and 24 other tissues See more Orthologs mouse all
COX5BP2, Official Symbol COX5BP2provided by HGNC Official Full Name cytochrome c oxidase subunit 5B pseudogene 2provided by HGNC Primary source HGNC:HGNC:2271 See related Ensembl:ENSG00000213111 AllianceGenome:HGNC:2271 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 COX5BL2
COX5BP7, Official Symbol COX5BP7provided by HGNC Official Full Name cytochrome c oxidase subunit 5B pseudogene 7provided by HGNC Primary source HGNC:HGNC:2276 See related AllianceGenome:HGNC:2276 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 COX5BL7
COX5BP8, Official Symbol COX5BP8provided by HGNC Official Full Name cytochrome c oxidase subunit 5B pseudogene 8provided by HGNC Primary source HGNC:HGNC:39083 See related Ensembl:ENSG00000223794 AllianceGenome:HGNC:39083 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
COX6A1, Official Symbol COX6A1provided by HGNC Official Full Name cytochrome c oxidase subunit 6A1provided by HGNC Primary source HGNC:HGNC:2277 See related Ensembl:ENSG00000111775 MIM:602072; AllianceGenome:HGNC:2277 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 COX6A; CMTRID; COX6AL Summary Cytochrome c oxidase (COX), the terminal enzyme of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. It 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 the electron transfer and the nuclear-encoded subunits may function in the regulation and assembly of the complex. This nuclear gene encodes polypeptide 1 (liver isoform) of subunit VIa, and polypeptide 1 is found in all non-muscle tissues. Polypeptide 2 (heart/muscle isoform) of subunit VIa is encoded by a different gene, and is present only in striated muscles. These two polypeptides share 66% amino acid sequence identity. It has been reported that there may be several pseudogenes on chromosomes 1, 6, 7q21, 7q31-32 and 12. However, only one pseudogene (COX6A1P) on chromosome 1p31.1 has been documented. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in colon (RPKM 215.0), duodenum (RPKM 185.5) and 25 other tissues See more Orthologs mouse all
COX6A1P3, Official Symbol COX6A1P3provided by HGNC Official Full Name COX6A1 pseudogene 3provided by HGNC Primary source HGNC:HGNC:37633 See related AllianceGenome:HGNC:37633 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
COX6A2, Official Symbol COX6A2provided by HGNC Official Full Name cytochrome c oxidase subunit 6A2provided by HGNC Primary source HGNC:HGNC:2279 See related Ensembl:ENSG00000156885 MIM:602009; AllianceGenome:HGNC:2279 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 COX6AH; COXVIAH; MC4DN18; COXVIa-M Summary Cytochrome c oxidase (COX), the terminal enzyme of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. It 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 be involved in the regulation and assembly of the complex. This nuclear gene encodes polypeptide 2 (heart/muscle isoform) of subunit VIa, and polypeptide 2 is present only in striated muscles. Polypeptide 1 (liver isoform) of subunit VIa is encoded by a different gene, and is found in all non-muscle tissues. These two polypeptides share 66% amino acid sequence identity. [provided by RefSeq, Jul 2008] Expression Biased expression in heart (RPKM 177.9), prostate (RPKM 30.1) and 1 other tissue See more Orthologs mouse all
COX6B1, Official Symbol COX6B1provided by HGNC Official Full Name cytochrome c oxidase subunit 6B1provided by HGNC Primary source HGNC:HGNC:2280 See related Ensembl:ENSG00000126267 MIM:124089; AllianceGenome:HGNC:2280 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 COXG; COX6B; MC4DN7; COXVIb1 Summary Cytochrome c oxidase (COX), the terminal enzyme of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. It 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 be involved in the regulation and assembly of the complex. This nuclear gene encodes subunit VIb. Mutations in this gene are associated with severe infantile encephalomyopathy. Three pseudogenes COX6BP-1, COX6BP-2 and COX6BP-3 have been found on chromosomes 7, 17 and 22q13.1-13.2, respectively. [provided by RefSeq, Jan 2010] Expression Ubiquitous expression in heart (RPKM 214.0), colon (RPKM 139.3) and 25 other tissues See more Orthologs mouse all
COX6B1P5, Official Symbol COX6B1P5provided by HGNC Official Full Name cytochrome c oxidase subunit 6B1 pseudogene 5provided by HGNC Primary source HGNC:HGNC:37675 See related AllianceGenome:HGNC:37675 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
COX6B1P6, Official Symbol COX6B1P6provided by HGNC Official Full Name cytochrome c oxidase subunit 6B1 pseudogene 6provided by HGNC Primary source HGNC:HGNC:37676 See related Ensembl:ENSG00000253349 AllianceGenome:HGNC:37676 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
COX6B1P7, Official Symbol COX6B1P7provided by HGNC Official Full Name cytochrome c oxidase subunit 6B1 pseudogene 7provided by HGNC Primary source HGNC:HGNC:37677 See related Ensembl:ENSG00000225242 AllianceGenome:HGNC:37677 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
COX6B2, Official Symbol COX6B2provided by HGNC Official Full Name cytochrome c oxidase subunit 6B2provided by HGNC Primary source HGNC:HGNC:24380 See related Ensembl:ENSG00000160471 MIM:618127; AllianceGenome:HGNC:24380 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 CT59; COXVIB2 Summary Predicted to be involved in oxidative phosphorylation. Located in mitochondrial crista. [provided by Alliance of Genome Resources, Apr 2022] Expression Restricted expression toward testis (RPKM 26.9) See more Orthologs mouse all
COX6C, Official Symbol COX6Cprovided by HGNC Official Full Name cytochrome c oxidase subunit 6Cprovided by HGNC Primary source HGNC:HGNC:2285 See related Ensembl:ENSG00000164919 MIM:124090; AllianceGenome:HGNC:2285 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, the terminal enzyme of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. It 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 be involved in the regulation and assembly of the complex. This nuclear gene encodes subunit VIc, which has 77% amino acid sequence identity with mouse subunit VIc. This gene is up-regulated in prostate cancer cells. A pseudogene has been found on chromosomes 16p12. [provided by RefSeq, Jul 2010] Expression Ubiquitous expression in heart (RPKM 104.1), colon (RPKM 92.2) and 25 other tissues See more Orthologs mouse all
COX6CP12, Official Symbol COX6CP12provided by HGNC Official Full Name cytochrome c oxidase subunit 6C pseudogene 12provided by HGNC Primary source HGNC:HGNC:49364 See related Ensembl:ENSG00000234463 AllianceGenome:HGNC:49364 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
COX6CP13, Official Symbol COX6CP13provided by HGNC Official Full Name cytochrome c oxidase subunit 6C pseudogene 13provided by HGNC Primary source HGNC:HGNC:49365 See related Ensembl:ENSG00000234144 AllianceGenome:HGNC:49365 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
COX6CP14, Official Symbol COX6CP14provided by HGNC Official Full Name cytochrome c oxidase subunit 6C pseudogene 14provided by HGNC Primary source HGNC:HGNC:49366 See related Ensembl:ENSG00000239576 AllianceGenome:HGNC:49366 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
COX6CP15, Official Symbol COX6CP15provided by HGNC Official Full Name cytochrome c oxidase subunit 6C pseudogene 15provided by HGNC Primary source HGNC:HGNC:49368 See related Ensembl:ENSG00000228092 AllianceGenome:HGNC:49368 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
COX6CP18, Official Symbol COX6CP18provided by HGNC Official Full Name cytochrome c oxidase subunit 6C pseudogene 18provided by HGNC Primary source HGNC:HGNC:49370 See related Ensembl:ENSG00000236041 AllianceGenome:HGNC:49370 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
COX6CP2, Official Symbol COX6CP2provided by HGNC Official Full Name cytochrome c oxidase subunit 6C pseudogene 2provided by HGNC Primary source HGNC:HGNC:16600 See related AllianceGenome:HGNC:16600 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 dJ894K16.1
COX6CP3, Official Symbol COX6CP3provided by HGNC Official Full Name cytochrome c oxidase subunit 6C pseudogene 3provided by HGNC Primary source HGNC:HGNC:31721 See related AllianceGenome:HGNC:31721 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
COX6CP5, Official Symbol COX6CP5provided by HGNC Official Full Name cytochrome c oxidase subunit 6C pseudogene 5provided by HGNC Primary source HGNC:HGNC:42791 See related Ensembl:ENSG00000254642 AllianceGenome:HGNC:42791 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
COX6CP7, Official Symbol COX6CP7provided by HGNC Official Full Name cytochrome c oxidase subunit 6C pseudogene 7provided by HGNC Primary source HGNC:HGNC:49359 See related Ensembl:ENSG00000268681 AllianceGenome:HGNC:49359 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
COX6CP8, Official Symbol COX6CP8provided by HGNC Official Full Name cytochrome c oxidase subunit 6C pseudogene 8provided by HGNC Primary source HGNC:HGNC:49360 See related Ensembl:ENSG00000253231 AllianceGenome:HGNC:49360 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
COX7A1, Official Symbol COX7A1provided by HGNC Official Full Name cytochrome c oxidase subunit 7A1provided by HGNC Primary source HGNC:HGNC:2287 See related Ensembl:ENSG00000161281 MIM:123995; AllianceGenome:HGNC:2287 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 COX7A; COX7AH; COX7AM 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 polypeptide 1 (muscle isoform) of subunit VIIa and the polypeptide 1 is present only in muscle tissues. Other polypeptides of subunit VIIa are present in both muscle and nonmuscle tissues, and are encoded by different genes. [provided by RefSeq, Jul 2008] Expression Biased expression in heart (RPKM 146.2), fat (RPKM 68.9) and 5 other tissues See more Orthologs mouse all
COX7A2, Official Symbol COX7A2provided by HGNC Official Full Name cytochrome c oxidase subunit 7A2provided by HGNC Primary source HGNC:HGNC:2288 See related Ensembl:ENSG00000112695 MIM:123996; AllianceGenome:HGNC:2288 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 VIIAL; COX7AL; COX7AL1; COXVIIAL; COXVIIa-L Summary Cytochrome c oxidase, 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 three catalytic subunits encoded by mitochondrial genes, and multiple structural subunits encoded by nuclear genes. The mitochondrially-encoded subunits function in electron transfer, while the nuclear-encoded subunits may function in the regulation and assembly of the complex. This nuclear gene encodes polypeptide 2 (liver isoform) of subunit VIIa, with this polypeptide being present in both muscle and non-muscle tissues. In addition to polypeptide 2, subunit VIIa includes polypeptide 1 (muscle isoform), which is present only in muscle tissues, and a related protein, which is present in all tissues. Alternative splicing results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 4 and 14. [provided by RefSeq, Oct 2009] Expression Broad expression in testis (RPKM 131.2), colon (RPKM 111.8) and 25 other tissues See more Orthologs mouse all
COX7A2L, Official Symbol COX7A2Lprovided by HGNC Official Full Name cytochrome c oxidase subunit 7A2 likeprovided by HGNC Primary source HGNC:HGNC:2289 See related Ensembl:ENSG00000115944 MIM:605771; AllianceGenome:HGNC:2289 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 EB1; SCAF1; SCAFI; SIG81; COX7AR; COX7RP 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 similar to polypeptides 1 and 2 of subunit VIIa in the C-terminal region, and also highly similar to the mouse Sig81 protein sequence. This gene is expressed in all tissues, and upregulated in a breast cancer cell line after estrogen treatment. It is possible that this gene represents a regulatory subunit of COX and mediates the higher level of energy production in target cells by estrogen. Several transcript variants, some protein-coding and others non-protein coding, have been found for this gene. [provided by RefSeq, Jan 2016] Expression Ubiquitous expression in adrenal (RPKM 37.4), kidney (RPKM 24.0) and 25 other tissues See more Orthologs mouse all
COX7A2P1, Official Symbol COX7A2P1provided by HGNC Official Full Name cytochrome c oxidase subunit 7A2 pseudogene 1provided by HGNC Primary source HGNC:HGNC:20006 See related AllianceGenome:HGNC:20006 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 COX7A3P; COX7AP1
COX7A2P2, Official Symbol COX7A2P2provided by HGNC Official Full Name cytochrome c oxidase subunit 7A2 pseudogene 2provided by HGNC Primary source HGNC:HGNC:2290 See related MIM:123997; AllianceGenome:HGNC:2290 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 COX7A3; COX7AL; COX7AL2; COX7AP2 Summary Predicted to enable electron transfer activity. Predicted to be involved in mitochondrial respirasome assembly and regulation of oxidative phosphorylation. Predicted to be part of mitochondrial respiratory chain complex IV. Predicted to be active in mitochondrial respirasome. [provided by Alliance of Genome Resources, Apr 2022]
COX7B, Official Symbol COX7Bprovided by HGNC Official Full Name cytochrome c oxidase subunit 7Bprovided by HGNC Primary source HGNC:HGNC:2291 See related Ensembl:ENSG00000131174 MIM:300885; AllianceGenome:HGNC:2291 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 APLCC; LSDMCA2 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 subunit VIIb, which is highly similar to bovine COX VIIb protein and is found in all tissues. This gene may have several pseudogenes on chromosomes 1, 2, 20 and 22. [provided by RefSeq, Jun 2011] Expression Ubiquitous expression in heart (RPKM 234.2), kidney (RPKM 174.2) and 24 other tissues See more Orthologs mouse all
COX7B2, Official Symbol COX7B2provided by HGNC Official Full Name cytochrome c oxidase subunit 7B2provided by HGNC Primary source HGNC:HGNC:24381 See related Ensembl:ENSG00000170516 MIM:609811; AllianceGenome:HGNC:24381 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 cytochrome-c oxidase activity. Predicted to be involved in electron transport chain; oxidative phosphorylation; and proton transmembrane transport. Predicted to be located in mitochondrial respirasome. Predicted to be integral component of membrane. Predicted to be part of respiratory chain complex IV. [provided by Alliance of Genome Resources, Apr 2022] Expression Restricted expression toward testis (RPKM 15.1) See more Orthologs mouse all
COX7C, Official Symbol COX7Cprovided by HGNC Official Full Name cytochrome c oxidase subunit 7Cprovided by HGNC Primary source HGNC:HGNC:2292 See related Ensembl:ENSG00000127184 MIM:603774; AllianceGenome:HGNC:2292 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 subunit VIIc, which shares 87% and 85% amino acid sequence identity with mouse and bovine COX VIIc, respectively, and is found in all tissues. A pseudogene COX7CP1 has been found on chromosome 13. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in kidney (RPKM 507.5), heart (RPKM 430.4) and 25 other tissues See more Orthologs mouse all
COX7CP1, Official Symbol COX7CP1provided by HGNC Official Full Name COX7C pseudogene 1provided by HGNC Primary source HGNC:HGNC:2293 See related AllianceGenome:HGNC:2293 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
COX8A, Official Symbol COX8Aprovided by HGNC Official Full Name cytochrome c oxidase subunit 8Aprovided by HGNC Primary source HGNC:HGNC:2294 See related Ensembl:ENSG00000176340 MIM:123870; AllianceGenome:HGNC:2294 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 COX; COX8; VIII; COX8L; COX8-2; VIII-L; MC4DN15 Summary The protein encoded by this gene is the terminal enzyme of the respiratory chain, coupling the transfer of electrons from cytochrome c to molecular oxygen, with the concomitant production of a proton electrochemical gradient across the inner mitochondrial membrane. In addition to 3 mitochondrially encoded subunits, which perform the catalytic function, the eukaryotic enzyme contains nuclear-encoded smaller subunits, ranging in number from 4 in some organisms to 10 in mammals. It has been proposed that nuclear-encoded subunits may be involved in the modulation of the catalytic function. This gene encodes one of the nuclear-encoded subunits. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in kidney (RPKM 159.8), colon (RPKM 143.7) and 25 other tissues See more Orthologs mouse all
COX8C, Official Symbol COX8Cprovided by HGNC Official Full Name cytochrome c oxidase subunit 8Cprovided by HGNC Primary source HGNC:HGNC:24382 See related Ensembl:ENSG00000187581 MIM:616855; AllianceGenome:HGNC:24382 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 COX8-3 Summary Predicted to be involved in mitochondrial electron transport, cytochrome c to oxygen. Located in mitochondrion. [provided by Alliance of Genome Resources, Apr 2022] Expression Restricted expression toward testis (RPKM 13.0) See more Orthologs mouse all
CP, Official Symbol CPprovided by HGNC Official Full Name ceruloplasminprovided by HGNC Primary source HGNC:HGNC:2295 See related Ensembl:ENSG00000047457 MIM:117700; AllianceGenome:HGNC:2295 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 CP-2; AB073614 Summary The protein encoded by this gene is a metalloprotein that binds most of the copper in plasma and is involved in the peroxidation of Fe(II)transferrin to Fe(III) transferrin. Mutations in this gene cause aceruloplasminemia, which results in iron accumulation and tissue damage, and is associated with diabetes and neurologic abnormalities. Two transcript variants, one protein-coding and the other not protein-coding, have been found for this gene. [provided by RefSeq, Feb 2012] Expression Biased expression in liver (RPKM 413.3) and urinary bladder (RPKM 15.0) See more Orthologs mouse all
CPA1, Official Symbol CPA1provided by HGNC Official Full Name carboxypeptidase A1provided by HGNC Primary source HGNC:HGNC:2296 See related Ensembl:ENSG00000091704 MIM:114850; AllianceGenome:HGNC:2296 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 CPA Summary This gene encodes a member of the carboxypeptidase A family of zinc metalloproteases. This enzyme is produced in the pancreas and preferentially cleaves C-terminal branched-chain and aromatic amino acids from dietary proteins. This gene and several family members are present in a gene cluster on chromosome 7. Mutations in this gene may be linked to chronic pancreatitis, while elevated protein levels may be associated with pancreatic cancer. [provided by RefSeq, Jan 2015] Expression Restricted expression toward pancreas (RPKM 26661.6) See more Orthologs mouse all
CPA2, Official Symbol CPA2provided by HGNC Official Full Name carboxypeptidase A2provided by HGNC Primary source HGNC:HGNC:2297 See related Ensembl:ENSG00000158516 MIM:600688; AllianceGenome:HGNC:2297 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 Three different forms of human pancreatic procarboxypeptidase A have been isolated. The encoded protein represents the A2 form, which is a monomeric protein with different biochemical properties from the A1 and A3 forms. The A2 form of pancreatic procarboxypeptidase acts on aromatic C-terminal residues and is a secreted protein. [provided by RefSeq, Dec 2008] Expression Restricted expression toward pancreas (RPKM 5496.0) See more Orthologs mouse all
CPA3, Official Symbol CPA3provided by HGNC Official Full Name carboxypeptidase A3provided by HGNC Primary source HGNC:HGNC:2298 See related Ensembl:ENSG00000163751 MIM:114851; AllianceGenome:HGNC:2298 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 MC-CPA Summary This gene encodes a member of the carboxypeptidase A family of zinc metalloproteases. The encoded preproprotein is proteolytically processed to generate a mature protease that is released by mast cells and may be involved in the degradation of endogenous proteins and the inactivation of venom-associated peptides. Expression of this gene may be elevated in human asthma patients. [provided by RefSeq, Nov 2015] Expression Biased expression in gall bladder (RPKM 74.3), lung (RPKM 46.6) and 11 other tissues See more Orthologs mouse all
CPA4, Official Symbol CPA4provided by HGNC Official Full Name carboxypeptidase A4provided by HGNC Primary source HGNC:HGNC:15740 See related Ensembl:ENSG00000128510 MIM:607635; AllianceGenome:HGNC:15740 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 CPA3 Summary This gene is a member of the carboxypeptidase A/B subfamily, and it is located in a cluster with three other family members on chromosome 7. Carboxypeptidases are zinc-containing exopeptidases that catalyze the release of carboxy-terminal amino acids, and are synthesized as zymogens that are activated by proteolytic cleavage. This gene could be involved in the histone hyperacetylation pathway. It is imprinted and may be a strong candidate gene for prostate cancer aggressiveness. [provided by RefSeq, Jul 2008] Expression Biased expression in skin (RPKM 24.3) and esophagus (RPKM 4.3) See more Orthologs all
CPA5, Official Symbol CPA5provided by HGNC Official Full Name carboxypeptidase A5provided by HGNC Primary source HGNC:HGNC:15722 See related Ensembl:ENSG00000158525 MIM:609561; AllianceGenome:HGNC:15722 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 Carboxypeptidases have functions ranging from digestion of food to selective biosynthesis of neuroendocrine peptides. Members of the A/B subfamily of carboxypeptidases, such as CPA5, contain an approximately 90-amino acid pro region that assists in the folding of the active carboxypeptidase domain. Cleavage of the pro region activates the enzyme (Wei et al., 2002 [PubMed 11836249]).[supplied by OMIM, Mar 2008] Expression Restricted expression toward testis (RPKM 7.8) See more Orthologs mouse all
CPA6, Official Symbol CPA6provided by HGNC Official Full Name carboxypeptidase A6provided by HGNC Primary source HGNC:HGNC:17245 See related Ensembl:ENSG00000165078 MIM:609562; AllianceGenome:HGNC:17245 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 CPAH; ETL5; FEB11 Summary The gene encodes a member of the peptidase M14 family of metallocarboxypeptidases. The encoded preproprotein is proteolytically processed to generate the mature enzyme, which catalyzes the release of large hydrophobic C-terminal amino acids. This enzyme has functions ranging from digestion of food to selective biosynthesis of neuroendocrine peptides. Mutations in this gene may be linked to epilepsy and febrile seizures, and a translocation t(6;8)(q26;q13) involving this gene has been associated with Duane retraction syndrome. [provided by RefSeq, May 2016] Expression Biased expression in prostate (RPKM 1.2), colon (RPKM 0.8) and 7 other tissues See more Orthologs mouse all
CPAMD8, Official Symbol CPAMD8provided by HGNC Official Full Name C3 and PZP like alpha-2-macroglobulin domain containing 8provided by HGNC Primary source HGNC:HGNC:23228 See related Ensembl:ENSG00000160111 MIM:608841; AllianceGenome:HGNC:23228 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 VIP; ASGD8; K-CAP Summary This gene encodes a member of the protease inhibitor I39 (alpha-2-macroglobulin) family of proteins. These proteins are important in innate and acquired immunity. The encoded protein is membrane-associated and proteolytically processed to generate two chains. Mutations in this gene cause a form of anterior segment dysgenesis, a developmental disorder of the eye. [provided by RefSeq, May 2017] Expression Biased expression in lung (RPKM 10.3), prostate (RPKM 7.9) and 12 other tissues See more Orthologs all
CPB1, Official Symbol CPB1provided by HGNC Official Full Name carboxypeptidase B1provided by HGNC Primary source HGNC:HGNC:2299 See related Ensembl:ENSG00000153002 MIM:114852; AllianceGenome:HGNC:2299 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 CPB; PASP; PCPB Summary Three different procarboxypeptidases A and two different procarboxypeptidases B have been isolated. The B1 and B2 forms differ from each other mainly in isoelectric point. Carboxypeptidase B1 is a highly tissue-specific protein and is a useful serum marker for acute pancreatitis and dysfunction of pancreatic transplants. It is not elevated in pancreatic carcinoma. [provided by RefSeq, Jul 2008] Expression Restricted expression toward pancreas (RPKM 27892.6) See more Orthologs mouse all
CPB2, Official Symbol CPB2provided by HGNC Official Full Name carboxypeptidase B2provided by HGNC Primary source HGNC:HGNC:2300 See related Ensembl:ENSG00000080618 MIM:603101; AllianceGenome:HGNC:2300 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 CPU; PCPB; TAFI Summary Carboxypeptidases are enzymes that hydrolyze C-terminal peptide bonds. The carboxypeptidase family includes metallo-, serine, and cysteine carboxypeptidases. According to their substrate specificity, these enzymes are referred to as carboxypeptidase A (cleaving aliphatic residues) or carboxypeptidase B (cleaving basic amino residues). The protein encoded by this gene is activated by trypsin and acts on carboxypeptidase B substrates. After thrombin activation, the mature protein downregulates fibrinolysis. Polymorphisms have been described for this gene and its promoter region. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jun 2013] Expression Restricted expression toward liver (RPKM 288.0) See more Orthologs mouse all
CPB2-AS1, Official Symbol CPB2-AS1provided by HGNC Official Full Name CPB2 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:39898 See related Ensembl:ENSG00000235903 AllianceGenome:HGNC:39898 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 1.2), liver (RPKM 0.2) and 3 other tissues See more
CPD, Official Symbol CPDprovided by HGNC Official Full Name carboxypeptidase Dprovided by HGNC Primary source HGNC:HGNC:2301 See related Ensembl:ENSG00000108582 MIM:603102; AllianceGenome:HGNC:2301 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 GP180 Summary The metallocarboxypeptidase family of enzymes is divided into 2 subfamilies based on sequence similarities. The pancreatic carboxypeptidase-like and the regulatory B-type carboxypeptidase subfamilies. Carboxypeptidase D has been identified as a regulatory B-type carboxypeptidase. CPD is a homolog of duck gp180, a hepatitis B virus-binding protein. Transcript variants utilizing alternative polyadenylation signals exist for this gene. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in thyroid (RPKM 44.8), gall bladder (RPKM 23.6) and 24 other tissues See more Orthologs mouse all
CPDP1, Official Symbol CPDP1provided by HGNC Official Full Name carboxypeptidase D pseudogene 1provided by HGNC Primary source HGNC:HGNC:53102 See related Ensembl:ENSG00000264240 AllianceGenome:HGNC:53102 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
CPE, Official Symbol CPEprovided by HGNC Official Full Name carboxypeptidase Eprovided by HGNC Primary source HGNC:HGNC:2303 See related Ensembl:ENSG00000109472 MIM:114855; AllianceGenome:HGNC:2303 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 CPH; BDVS; IDDHH Summary This gene encodes a member of the M14 family of metallocarboxypeptidases. The encoded preproprotein is proteolytically processed to generate the mature peptidase. This peripheral membrane protein cleaves C-terminal amino acid residues and is involved in the biosynthesis of peptide hormones and neurotransmitters, including insulin. This protein may also function independently of its peptidase activity, as a neurotrophic factor that promotes neuronal survival, and as a sorting receptor that binds to regulated secretory pathway proteins, including prohormones. Mutations in this gene are implicated in type 2 diabetes. [provided by RefSeq, Nov 2015] Expression Biased expression in brain (RPKM 491.8), prostate (RPKM 192.3) and 11 other tissues See more Orthologs mouse all
CPEB1, Official Symbol CPEB1provided by HGNC Official Full Name cytoplasmic polyadenylation element binding protein 1provided by HGNC Primary source HGNC:HGNC:21744 See related Ensembl:ENSG00000214575 MIM:607342; AllianceGenome:HGNC:21744 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 CPEB; CPEB-1; h-CPEB; CPE-BP1; hCPEB-1 Summary This gene encodes a member of the cytoplasmic polyadenylation element binding protein family. This highly conserved protein binds to a specific RNA sequence, called the cytoplasmic polyadenylation element, found in the 3' untranslated region of some mRNAs. The encoded protein functions in both the cytoplasm and the nucleus. It is involved in the regulation of mRNA translation, as well as processing of the 3' untranslated region, and may play a role in cell proliferation and tumorigenesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014] Expression Biased expression in testis (RPKM 19.2), brain (RPKM 6.3) and 8 other tissues See more Orthologs mouse all
CPEB1-AS1, Official Symbol CPEB1-AS1provided by HGNC Official Full Name CPEB1 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:27523 See related Ensembl:ENSG00000259462 AllianceGenome:HGNC:27523 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
CPEB2, Official Symbol CPEB2provided by HGNC Official Full Name cytoplasmic polyadenylation element binding protein 2provided by HGNC Primary source HGNC:HGNC:21745 See related Ensembl:ENSG00000137449 MIM:610605; AllianceGenome:HGNC:21745 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 CPEB-2; CPE-BP2; hCPEB-2 Summary The protein encoded by this gene is highly similar to cytoplasmic polyadenylation element binding protein (CPEB), an mRNA-binding protein that regulates cytoplasmic polyadenylation of mRNA as a trans factor in oogenesis and spermatogenesis. Studies of the similar gene in mice suggested a possible role of this protein in transcriptionally inactive haploid spermatids. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2008] Expression Broad expression in testis (RPKM 12.0), skin (RPKM 7.9) and 24 other tissues See more Orthologs mouse all
CPEB2-DT, Official Symbol CPEB2-DTprovided by HGNC Official Full Name CPEB2 divergent transcriptprovided by HGNC Primary source HGNC:HGNC:49082 See related Ensembl:ENSG00000247624 AllianceGenome:HGNC:49082 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 DRAIR; CPEB2-AS1 Expression Restricted expression toward testis (RPKM 1.1) See more