COX7A1 (cytochrome c oxidase subunit 7A1)

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Gene Gene ontology Other IDs Protein Pathways Associated diseases Related genes Diseases linked via similar genes

Gene

• Entrez ID: 1346
• Gene name: Cytochrome c oxidase subunit 7A1
• Gene symbol: COX7A1
• Synonyms (NCBI Gene): COX7A, COX7AH, COX7AM
• Chromosome: 19
• Chromosome location: 19q13.12
• 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 mitochond

Gene ontology (GO) Show/Hide all (20)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004129	Function	Cytochrome-c oxidase activity	IBA
GO:0004129	Function	Cytochrome-c oxidase activity	IEA
GO:0004129	Function	Cytochrome-c oxidase activity	TAS	1327965
GO:0005515	Function	Protein binding	IPI	32814053
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IEA
GO:0005739	Component	Mitochondrion	TAS	9344674
GO:0005743	Component	Mitochondrial inner membrane	IEA
GO:0005743	Component	Mitochondrial inner membrane	TAS
GO:0006091	Process	Generation of precursor metabolites and energy	TAS	9344674
GO:0006119	Process	Oxidative phosphorylation	IBA
GO:0006119	Process	Oxidative phosphorylation	IEA
GO:0006123	Process	Mitochondrial electron transport, cytochrome c to oxygen	IEA
GO:0016020	Component	Membrane	IEA
GO:0016491	Function	Oxidoreductase activity	IEA
GO:0031966	Component	Mitochondrial membrane	IBA
GO:0045277	Component	Respiratory chain complex IV	IEA
GO:0097250	Process	Mitochondrial respirasome assembly	ISS
GO:0098803	Component	Respiratory chain complex	IBA
GO:1902600	Process	Proton transmembrane transport	IEA

Other IDs

• MIM: 123995
• HGNC: 2287
• e!Ensembl: ENSG00000161281

Protein

• UniProt ID: P24310
• Protein name: Cytochrome c oxidase subunit 7A1, mitochondrial (Cytochrome c oxidase subunit VIIa-heart) (Cytochrome c oxidase subunit VIIa-H) (Cytochrome c oxidase subunit VIIa-muscle) (Cytochrome c oxidase subunit VIIa-M)
• Protein function: Component of the mitochondrial respiratory complex IV (CIV, also named cytochrome c oxidase complex), the last enzyme in the mitochondrial electron transport chain which drives oxidative phosphorylation (By similarity). The CIV complex is the co
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF02238	COX7a	24 → 76	Cytochrome c oxidase subunit VII	Family

• Sequence:

  MQALRVSQALIRSFSSTARNRFQNRVREKQKLFQEDNDIPLYLKGGIVDNILYRVTMTLC
  LGGTVYSLYSLGWASFPRN

• Sequence length: 79

Pathways

KEGG Pathway

Oxidative phosphorylation

Metabolic pathways

Cardiac muscle contraction

Thermogenesis

Non-alcoholic fatty liver disease

Alzheimer disease

Parkinson disease

Amyotrophic lateral sclerosis

Huntington disease

Prion disease

Pathways of neurodegeneration - multiple diseases

Chemical carcinogenesis - reactive oxygen species

Diabetic cardiomyopathy

Associated diseases

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
Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
Familial cancer of breast	Uncertain significance	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Uncertain significance	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining Show/Hide Text Mining Associations (11)
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenocarcinoma	Adenocarcinoma	BEFREE	27866983		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	27866983		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	27866983, 31663688		★☆☆☆☆ Found in Text Mining only
Cytochrome-c Oxidase Deficiency	Cytochrome-C Oxidase Deficiency	BEFREE	19843159		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	18488190	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	18488190		★☆☆☆☆ Found in Text Mining only
Ear Diseases	Ear disease	Pubtator	40229705	Stimulate	★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver cirrhosis	Pubtator	38275754	Associate	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	31663688	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	27866983, 31663688		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	31663688		★☆☆☆☆ Found in Text Mining only

Related Genes

Sort by: Blended Diseases Pathways Evidence source

COX6B2 8 shared pathwaysOxidative phosphorylation, Cardiac muscle contraction, Thermogenesis, Non-alcoholic fatty liver disease, Parkinson disease, Prion disease, Chemical carcinogenesis - reactive oxygen species, Diabetic cardiomyopathy Related via 8 shared pathways including Oxidative phosphorylation, Cardiac muscle contraction. COX6A2 8 shared pathwaysOxidative phosphorylation, Cardiac muscle contraction, Thermogenesis, Non-alcoholic fatty liver disease, Parkinson disease, Prion disease, Chemical carcinogenesis - reactive oxygen species, Diabetic cardiomyopathy Related via 8 shared pathways including Oxidative phosphorylation, Cardiac muscle contraction. COX7A2 8 shared pathwaysOxidative phosphorylation, Cardiac muscle contraction, Thermogenesis, Non-alcoholic fatty liver disease, Parkinson disease, Prion disease, Chemical carcinogenesis - reactive oxygen species, Diabetic cardiomyopathy Related via 8 shared pathways including Oxidative phosphorylation, Cardiac muscle contraction. COX7B2 8 shared pathwaysOxidative phosphorylation, Cardiac muscle contraction, Thermogenesis, Non-alcoholic fatty liver disease, Parkinson disease, Prion disease, Chemical carcinogenesis - reactive oxygen species, Diabetic cardiomyopathy Related via 8 shared pathways including Oxidative phosphorylation, Cardiac muscle contraction. COX8C 8 shared pathwaysOxidative phosphorylation, Cardiac muscle contraction, Thermogenesis, Non-alcoholic fatty liver disease, Parkinson disease, Prion disease, Chemical carcinogenesis - reactive oxygen species, Diabetic cardiomyopathy Related via 8 shared pathways including Oxidative phosphorylation, Cardiac muscle contraction.

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathways	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
COX6B2	0	[]	8	["Oxidative phosphorylation","Cardiac muscle contraction","Thermogenesis","Non-alcoholic fatty liver disease","Parkinson disease","Prion disease","Chemical carcinogenesis - reactive oxygen species","Diabetic cardiomyopathy"]	0	[]
COX6A2	0	[]	8	["Oxidative phosphorylation","Cardiac muscle contraction","Thermogenesis","Non-alcoholic fatty liver disease","Parkinson disease","Prion disease","Chemical carcinogenesis - reactive oxygen species","Diabetic cardiomyopathy"]	0	[]
COX7A2	0	[]	8	["Oxidative phosphorylation","Cardiac muscle contraction","Thermogenesis","Non-alcoholic fatty liver disease","Parkinson disease","Prion disease","Chemical carcinogenesis - reactive oxygen species","Diabetic cardiomyopathy"]	0	[]
COX7B2	0	[]	8	["Oxidative phosphorylation","Cardiac muscle contraction","Thermogenesis","Non-alcoholic fatty liver disease","Parkinson disease","Prion disease","Chemical carcinogenesis - reactive oxygen species","Diabetic cardiomyopathy"]	0	[]
COX8C	0	[]	8	["Oxidative phosphorylation","Cardiac muscle contraction","Thermogenesis","Non-alcoholic fatty liver disease","Parkinson disease","Prion disease","Chemical carcinogenesis - reactive oxygen species","Diabetic cardiomyopathy"]	0	[]

Diseases Linked via Similar Genes

Cytochrome c oxidase deficiency Linked via 1 of 5 related genesCOX6A2 Mitochondrial complex deficiency Linked via 1 of 5 related genesCOX6A2 Mitochondrial disease Linked via 1 of 5 related genesCOX6A2 Asthma Linked via 1 of 5 related genesCOX7A2 Alzheimer disease Linked via 1 of 5 related genesCOX7B2

Disease	Linked Via (Gene Count)	Linked Via (Gene Names)
Cytochrome c oxidase deficiency	1	["COX6A2"]
Mitochondrial complex deficiency	1	["COX6A2"]
Mitochondrial disease	1	["COX6A2"]
Asthma	1	["COX7A2"]
Alzheimer disease	1	["COX7B2"]