COX1 (mitochondrially encoded cytochrome c oxidase I)

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Gene Gene information from NCBI Gene database.
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Entrez ID 4512
Gene name Mitochondrially encoded cytochrome c oxidase I
Gene symbol COX1
Synonyms (NCBI Gene)
COIMTCO1
Chromosome MT
Chromosome location -
miRNA miRNA information provided by mirtarbase database.
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miRTarBase ID miRNA Experiments Reference
MIRT052429 hsa-let-7a-5p CLASH 23622248
MIRT051954 hsa-let-7b-5p CLASH 23622248
MIRT051954 hsa-let-7b-5p CLASH 23622248
MIRT051799 hsa-let-7c-5p CLASH 23622248
MIRT051484 hsa-let-7e-5p CLASH 23622248
Transcription factors Transcription factors information provided by TRRUST V2 database.
4
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Transcription factor Regulation Reference
MLL4 Unknown 19570036
NFKB1 Unknown 19570036
NR3C1 Unknown 19570036
RELA Unknown 19570036
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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GO ID Ontology Definition Evidence Reference
GO:0001666 Process Response to hypoxia IEA
GO:0004129 Function Cytochrome-c oxidase activity IBA
GO:0004129 Function Cytochrome-c oxidase activity IEA
GO:0004129 Function Cytochrome-c oxidase activity IMP 12140182
GO:0005515 Function Protein binding IPI 12762840, 23260140, 26321642, 29154948, 33961781
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
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MIM HGNC e!Ensembl
516030 7419 HGNC
Protein Protein information from UniProt database.
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UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P00395
Protein name Cytochrome c oxidase subunit 1 (EC 7.1.1.9) (Cytochrome c oxidase polypeptide I)
Protein function Component of the cytochrome c oxidase, the last enzyme in the mitochondrial electron transport chain which drives oxidative phosphorylation. The respiratory chain contains 3 multisubunit complexes succinate dehydrogenase (complex II, CII), ubiqu
PDB 5Z62
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00115 COX1 14 → 460 Cytochrome C and Quinol oxidase polypeptide I Family
Sequence
Sequence length 513
Interactions View interactions

COX1 (-)

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Gene Gene information from NCBI Gene database.
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Entrez ID 6775083
Gene name -
Gene symbol COX1
Synonyms (NCBI Gene)
-
Chromosome MT
Chromosome location -
Transcription factors Transcription factors information provided by TRRUST V2 database.
4
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Transcription factor Regulation Reference
MLL4 Unknown 19570036
NFKB1 Unknown 19570036
NR3C1 Unknown 19570036
RELA Unknown 19570036
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
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MIM HGNC e!Ensembl
N/A N/A N/A
Interactions View interactions

COX1 (-)

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Gene Gene information from NCBI Gene database.
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Entrez ID 8923218
Gene name -
Gene symbol COX1
Synonyms (NCBI Gene)
-
Chromosome MT
Chromosome location -
Transcription factors Transcription factors information provided by TRRUST V2 database.
4
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Transcription factor Regulation Reference
MLL4 Unknown 19570036
NFKB1 Unknown 19570036
NR3C1 Unknown 19570036
RELA Unknown 19570036
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
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MIM HGNC e!Ensembl
N/A N/A N/A
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
28
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Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Show/Hide Unknown Diseases (28)
Phenotype Name Clinical Significance Source Reference Evidence Score
BECKWITH-WIEDEMANN SYNDROME — HPO —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BETA-THALASSEMIA — HPO —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CARCINOMA — CTD 12376462
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHIES — CTD, Disgenet
CTD, Disgenet 		14568902
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Show/Hide Text Mining Associations (318)
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acromegaly Acromegaly Pubtator 32171274 Stimulate
★★★★★
★☆☆☆☆
Found in Text Mining only
Acute Coronary Syndrome Coronary Syndrome BEFREE 19485927, 31828756
★★★★★
★☆☆☆☆
Found in Text Mining only
Acute Promyelocytic Leukemia Promyelocytic Leukemia BEFREE 15190260
★★★★★
★☆☆☆☆
Found in Text Mining only
Addison Disease Addison`s Disease HPO_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma BEFREE 11059772, 11920472, 28206968, 28362707
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Of Esophagus Esophageal Cancer BEFREE 11005569, 15585388, 15958546, 17691999, 31707149
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenoma Adenoma BEFREE 19205707
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenoma of large intestine Colorectal adenoma BEFREE 15807932, 28362707
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenomatous Polyposis Coli Multiple polyposis syndrome BEFREE 11685545, 31552592
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenomatous Polyps Adenomatous Polyposis BEFREE 28362707
★★★★★
★☆☆☆☆
Found in Text Mining only
Sort by:
COX2 10 shared diseasesCerebellar ataxia, Cleft palate and bilateral cleft lip, Leber hereditary optic neuropathy, Melas syndrome, Mitochondrial complex deficiency, Mitochondrial disease, Neuropathy, ataxia, and retinitis pigmentosa, Postaxial polydactyly, Rod-cone dystrophy, Tetralogy of fallot 10 shared pathwaysOxidative phosphorylation, Cardiac muscle contraction, Thermogenesis, Non-alcoholic fatty liver disease, Parkinson disease, Prion disease, Chemical carcinogenesis - reactive oxygen species, Diabetic cardiomyopathy, TP53 Regulates Metabolic Genes, Respiratory electron transport 11 shared evidence sourcesDisgenet (Cerebellar ataxia), Disgenet (Cleft palate and bilateral cleft lip), Disgenet (Leber hereditary optic neuropathy), Disgenet (Melas syndrome), CTD (Melas syndrome), Disgenet (Mitochondrial complex deficiency), Disgenet (Mitochondrial disease), Disgenet (Neuropathy, ataxia, and retinitis pigmentosa), Disgenet (Postaxial polydactyly), Disgenet (Rod-cone dystrophy), Disgenet (Tetralogy of fallot) Related via 10 shared diseases including Cerebellar ataxia, Cleft palate and bilateral cleft lip — evidence mostly Disgenet. COX3 10 shared diseasesCerebellar ataxia, Cleft palate and bilateral cleft lip, Leber hereditary optic neuropathy, Melas syndrome, Mitochondrial complex deficiency, Mitochondrial disease, Neuropathy, ataxia, and retinitis pigmentosa, Postaxial polydactyly, Rod-cone dystrophy, Tetralogy of fallot 10 shared pathwaysOxidative phosphorylation, Cardiac muscle contraction, Thermogenesis, Non-alcoholic fatty liver disease, Parkinson disease, Prion disease, Chemical carcinogenesis - reactive oxygen species, Diabetic cardiomyopathy, TP53 Regulates Metabolic Genes, Respiratory electron transport 11 shared evidence sourcesDisgenet (Cerebellar ataxia), Disgenet (Cleft palate and bilateral cleft lip), Disgenet (Leber hereditary optic neuropathy), Disgenet (Melas syndrome), CTD (Melas syndrome), Disgenet (Mitochondrial complex deficiency), Disgenet (Mitochondrial disease), Disgenet (Neuropathy, ataxia, and retinitis pigmentosa), Disgenet (Postaxial polydactyly), Disgenet (Rod-cone dystrophy), Disgenet (Tetralogy of fallot) Related via 10 shared diseases including Cerebellar ataxia, Cleft palate and bilateral cleft lip — evidence mostly Disgenet. ND3 9 shared diseasesCerebellar ataxia, Cleft palate and bilateral cleft lip, Leber hereditary optic neuropathy, Melas syndrome, Mitochondrial complex deficiency, Mitochondrial disease, Neuropathy, ataxia, and retinitis pigmentosa, Postaxial polydactyly, Rod-cone dystrophy 7 shared pathwaysOxidative phosphorylation, Thermogenesis, Parkinson disease, Prion disease, Chemical carcinogenesis - reactive oxygen species, Diabetic cardiomyopathy, Respiratory electron transport 9 shared evidence sourcesDisgenet (Cerebellar ataxia), Disgenet (Cleft palate and bilateral cleft lip), Disgenet (Leber hereditary optic neuropathy), Disgenet (Melas syndrome), Disgenet (Mitochondrial complex deficiency), Disgenet (Mitochondrial disease), Disgenet (Neuropathy, ataxia, and retinitis pigmentosa), Disgenet (Postaxial polydactyly), Disgenet (Rod-cone dystrophy) Related via 9 shared diseases including Cerebellar ataxia, Cleft palate and bilateral cleft lip — evidence mostly Disgenet. ATP8 10 shared diseasesCerebellar ataxia, Cardiomyopathy, Cleft palate and bilateral cleft lip, Leber hereditary optic neuropathy, Melas syndrome, Mitochondrial complex deficiency, Mitochondrial disease, Neuropathy, ataxia, and retinitis pigmentosa, Postaxial polydactyly, Rod-cone dystrophy 6 shared pathwaysOxidative phosphorylation, Thermogenesis, Parkinson disease, Prion disease, Chemical carcinogenesis - reactive oxygen species, Diabetic cardiomyopathy 10 shared evidence sourcesDisgenet (Cerebellar ataxia), Disgenet (Cardiomyopathy), Disgenet (Cleft palate and bilateral cleft lip), Disgenet (Leber hereditary optic neuropathy), Disgenet (Melas syndrome), Disgenet (Mitochondrial complex deficiency), Disgenet (Mitochondrial disease), Disgenet (Neuropathy, ataxia, and retinitis pigmentosa), Disgenet (Postaxial polydactyly), Disgenet (Rod-cone dystrophy) Related via 10 shared diseases including Cerebellar ataxia, Cardiomyopathy — evidence mostly Disgenet. ND1 13 shared diseasesCerebellar ataxia, Optic atrophy, Cleft palate and bilateral cleft lip, Deafness, aminoglycoside-induced, Deafness, nonsyndromic sensorineural, mitochondrial, Deafness, sensorineural, autosomal-mitochondrial type, Leber hereditary optic neuropathy, Melas syndrome, Mitochondrial complex deficiency, Mitochondrial disease, Neuropathy, ataxia, and retinitis pigmentosa, Postaxial polydactyly +1 more 7 shared pathwaysOxidative phosphorylation, Thermogenesis, Parkinson disease, Prion disease, Chemical carcinogenesis - reactive oxygen species, Diabetic cardiomyopathy, Respiratory electron transport 14 shared evidence sourcesDisgenet (Cerebellar ataxia), Disgenet (Optic atrophy), Disgenet (Cleft palate and bilateral cleft lip), Disgenet (Deafness, aminoglycoside-induced), Disgenet (Deafness, nonsyndromic sensorineural, mitochondrial), Disgenet (Deafness, sensorineural, autosomal-mitochondrial type), Disgenet (Leber hereditary optic neuropathy), Disgenet (Melas syndrome), CTD (Melas syndrome), Disgenet (Mitochondrial complex deficiency), Disgenet (Mitochondrial disease), Disgenet (Neuropathy, ataxia, and retinitis pigmentosa) +2 more Related via 13 shared diseases including Cerebellar ataxia, Optic atrophy — evidence mostly Disgenet.
Parkinson disease Linked via 2 of 5 related genesND3, ND1 Optic neuropathy Linked via 2 of 5 related genesATP8, ND1 Major depressive disorder Linked via 1 of 5 related genesCOX2 Neuroblastoma Linked via 1 of 5 related genesCOX2 Spastic ataxia Linked via 1 of 5 related genesCOX3