• Gene id: 1337

Gene Summary

• Gene Symbol: COX6A1   Gene   UCSC   Ensembl
• Aliases: CMTRID, COX6A, COX6AL
• Gene name: cytochrome c oxidase subunit 6A1
• Alternate names: cytochrome c oxidase subunit 6A1, mitochondrial, COX VIa-L, cytochrome C oxidase subunit VIa homolog, cytochrome c oxidase polypeptide VIa-liver, cytochrome c oxidase subunit VIA-liver, cytochrome c oxidase subunit VIa polypeptide 1,
• Gene location: 12q24.2 (34714822: 34709112)     Exons: 6     NC_000014.9
• Gene summary(Entrez): 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
• OMIM: 602072

Protein Summary

• Protein general information: P12074  
  • Name: Cytochrome c oxidase subunit 6A1, mitochondrial (Cytochrome c oxidase polypeptide VIa liver) (Cytochrome c oxidase subunit VIA liver) (COX VIa L)
  • Length: 109  
  • Mass: 12155
• Sequence:

  MAVVGVSSVSRLLGRSRPQLGRPMSSGAHGEEGSARMWKTLTFFVALPGVAVSMLNVYLKSHHGEHERPEFIAYP
  HLRIRTKPFPWGDGNHTLFHNPHVNPLPTGYEDE

• Structural information:
  • Interpro: IPR001349  IPR018507  IPR036418  
  • Prosite: PS01329
  • CDD: cd00925
  • PDB: 5Z62
  • PDBsum: 5Z62
  • STRING: ENSP00000229379
• Other Databases: GeneCards:  COX6A1  Malacards:  COX6A1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
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:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0050790	regulation of catalytic activity	IEA	biological process
GO:1902600	proton transmembrane transport	IEA	biological process
GO:1902600	proton transmembrane transport	IEA	biological process
GO:0006119	oxidative phosphorylation	IEA	biological process
GO:0030234	enzyme regulator activity	IBA	molecular function
GO:0009060	aerobic respiration	IBA	biological process
GO:0005751	mitochondrial respiratory chain complex IV	IBA	cellular component
GO:0006123	mitochondrial electron transport, cytochrome c to oxygen	IBA	biological process
GO:0004129	cytochrome-c oxidase activity	IBA	contributes to
GO:0005751	mitochondrial respiratory chain complex IV	IEA	cellular component
GO:0004129	cytochrome-c oxidase activity	IEA	molecular function
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0055114	oxidation-reduction process	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
Charcot-Marie-Tooth disease	KEGG:H00264
Charcot-Marie-Tooth disease	KEGG:H00264
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
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