• Gene id: 1346

Gene Summary

• Gene Symbol: COX7A1   Gene   UCSC   Ensembl
• Aliases: COX7A, COX7AH, COX7AM
• Gene name: cytochrome c oxidase subunit 7A1
• Alternate names: cytochrome c oxidase subunit 7A1, mitochondrial, cytochrome c oxidase subunit VIIa heart/muscle isoform, cytochrome c oxidase subunit VIIa polypeptide 1 (muscle), cytochrome c oxidase subunit VIIa-H, cytochrome c oxidase subunit VIIa-M, cytochrome c oxidase su,
• Gene location: 19q13.12 (36152446: 36150921)     Exons: 4     NC_000019.10
• Gene summary(Entrez): 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

Protein Summary

• Protein general information: P24310  
  • 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)
  • Length: 79  
  • Mass: 9118
• Sequence:

  MQALRVSQALIRSFSSTARNRFQNRVREKQKLFQEDNDIPLYLKGGIVDNILYRVTMTLCLGGTVYSLYSLGWAS
  FPRN

• Structural information:
  • Interpro: IPR039297  IPR036539  IPR003177  
  • CDD: cd00928
  • STRING: ENSP00000292907
• Other Databases: GeneCards:  COX7A1  Malacards:  COX7A1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0097250	mitochondrial respirasome assembly	IBA	biological process
GO:0002082	regulation of oxidative phosphorylation	IBA	biological process
GO:0005746	mitochondrial respirasome	IBA	cellular component
GO:0005746	mitochondrial respirasome	IEA	cellular component
GO:0004129	cytochrome-c oxidase activity	IEA	molecular function
GO:0009055	electron transfer activity	IEA	molecular function
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0005739	mitochondrion	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0004129	cytochrome-c oxidase activity	TAS	molecular function
GO:0005739	mitochondrion	TAS	cellular component
GO:0006091	generation of precursor metabolites and energy	TAS	biological process
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:1902600	proton transmembrane transport	IEA	biological process
GO:1902600	proton transmembrane transport	IEA	biological process
GO:0022900	electron transport chain	IEA	biological process
GO:0022900	electron transport chain	IEA	biological process
GO:0022900	electron transport chain	IEA	biological process
GO:0006119	oxidative phosphorylation	IEA	biological process

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa05010	Alzheimer disease
hsa05016	Huntington disease
hsa05012	Parkinson disease
hsa04714	Thermogenesis
hsa00190	Oxidative phosphorylation
hsa04932	Non-alcoholic fatty liver disease
hsa04260	Cardiac muscle contraction

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq