• Gene id: 1351

Gene Summary

• Gene Symbol: COX8A   Gene   UCSC   Ensembl
• Aliases: COX, COX8, COX8-2, COX8L, VIII, VIII-L
• Gene name: cytochrome c oxidase subunit 8A
• Alternate names: cytochrome c oxidase subunit 8A, mitochondrial, cytochrome c oxidase polypeptide VIII-liver/heart, cytochrome c oxidase subunit 8-2, cytochrome c oxidase subunit 8A (ubiquitous), cytochrome c oxidase subunit VIII, cytochrome c oxidase subunit VIIIA (ubiquitous,
• Gene location: 11q13.1 (63974619: 63976542)     Exons: 2     NC_000011.10
• Gene summary(Entrez): 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
• OMIM: 123870

Protein Summary

• Protein general information: P10176  
  • Name: Cytochrome c oxidase subunit 8A, mitochondrial (Cytochrome c oxidase polypeptide VIII liver/heart) (Cytochrome c oxidase subunit 8 2)
  • Length: 69  
  • Mass: 7579
• Sequence:

  MSVLTPLLLRGLTGSARRLPVPRAKIHSLPPEGKLGIMELAVGLTSCFVTFLLPAGWILSHLETYRRPE

• Structural information:
  • Interpro: IPR003205  IPR036548  
  • PDB: 5Z62
  • PDBsum: 5Z62
  • STRING: ENSP00000321260
• Other Databases: GeneCards:  COX8A  Malacards:  COX8A

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0045277	respiratory chain complex IV	IBA	cellular component
GO:0005739	mitochondrion	IBA	cellular component
GO:0004129	cytochrome-c oxidase activity	IEA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0004129	cytochrome-c oxidase activity	TAS	molecular function
GO:0006091	generation of precursor metabolites and energy	TAS	biological process
GO:0005743	mitochondrial inner membrane	TAS	cellular component
GO:0006123	mitochondrial electron transport, cytochrome c to oxygen	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
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: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
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Hypospermatogenesis	MIK: 28361989
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28361989	Hypospermatogenesis			6 (3 controls, 3 Klienfelter syndrome	Male infertility	Microarray