COX6A1

Protein identityUniProt · HPA

UniProt accession

P12074

Gene

COX6A1

Ensembl

ENSG00000111775

Chromosome

12

Canonical length

109 aa

Protein class

Disease related genes, Human disease related genes, Metabolic proteins, Predicted membrane proteins

Subcellular location

Mitochondria,Principal piece

OverviewNCBI Gene

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 multiple structural subunits encoded by nuclear genes. The mitochondrially-encoded subunits function in the electron transfer and the nuclear-encoded subunits may function in the regulation and assembly of the complex. This nuclear gene encodes polypeptide 1 (liver isoform) of subunit VIa, and polypeptide 1 is found in all non-muscle tissues. Polypeptide 2 (heart/muscle isoform) of subunit VIa is encoded by a different gene, and is present only in striated muscles. These two polypeptides share 66% amino acid sequence identity. It has been reported that there may be several pseudogenes on chromosomes 1, 6, 7q21, 7q31-32 and 12. However, only one pseudogene (COX6A1P) on chromosome 1p31.1 has been documented. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

109 residues, UniProt reviewed canonical sequence.

>P12074|COX6A1
     1  MAVVGVSSVS RLLGRSRPQL GRPMSSGAHG EEGSARMWKT LTFFVALPGV AVSMLNVYLK
    61  SHHGEHERPE FIAYPHLRIR TKPFPWGDGN HTLFHNPHVN PLPTGYEDE

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against COX6A1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Other membrane

Secreted

No

Transmembrane segments

1

Mean surface accessibility (rSASA)

0.54

Highest tissue expression

1,832 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about COX6A1.

Disease | AllUniProt

Conditions COX6A1 is implicated in, by any mechanism.

• Charcot-Marie-Tooth disease, recessive intermediate D (CMTRID) MIM:616039

Disease | GeneticClinVar

1 pathogenic / likely-pathogenic of 118 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Charcot-Marie-Tooth disease recessive intermediate D

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

1.76

gnomAD pLI

0

gnomAD missense Z

-1.42

DepMap mean gene effect

-0.56

DepMap dependency class

common

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• cellular respiration
• generation of precursor metabolites and energy
• mitochondrial electron transport, cytochrome c to oxygen

Molecular functions

• enzyme regulator activity
• oxidoreductase activity

Cellular components

• mitochondrial inner membrane
• mitochondrial membrane
• mitochondrion
• respiratory chain complex IV
• sperm principal piece

Protein domainsUniProt · Pfam · InterPro

• Cytochrome c oxidase, subunit VIa
• Cytochrome c oxidase, subunit VIa, conserved site
• Cytochrome c oxidase, subunit VIa superfamily
• Cytochrome c oxidase subunit VIa

KeywordsUniProt

• Charcot-Marie-Tooth disease
• Membrane
• Mitochondrion
• Mitochondrion inner membrane
• Neurodegeneration
• Neuropathy
• Oxidoreductase
• Transit peptide
• Transmembrane
• Transmembrane helix