COA8

Protein identityUniProt · HPA

UniProt accession

Q96IL0

Gene

COA8

Ensembl

ENSG00000256053

Chromosome

14

Canonical length

206 aa

Protein class

Disease related genes, Human disease related genes, Predicted intracellular proteins

OverviewNCBI Gene

This gene encodes a protein that localizes to the mitochondria, where it stimulates the release of cytochrome c, thereby promoting programmed cell death. Mutations in this gene have been found in individuals with mitochondrial complex IV deficiency. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014]

Canonical amino-acid sequenceUniProt

206 residues, UniProt reviewed canonical sequence.

>Q96IL0|COA8
     1  MLPCAAGARG RGAMVVLRAG KKTFLPPLCR AFACRGCQLA PERGAERRDT APSGVSRFCP
    61  PRKSCHDWIG PPDKYSNLRP VHFYIPENES PLEQKLRKLR QETQEWNQQF WANQNLTFSK
   121  EKEEFIHSRL KTKGLGLRTE SGQKATLNAE EMADFYKEFL SKNFQKHMYY NRDWYKRNFA
   181  ITFFMGKVAL ERIWNKLKQK QKKRSN

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against COA8 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

0

Mean surface accessibility (rSASA)

0.45

Highest tissue expression

114 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about COA8.

Disease | AllUniProt

Conditions COA8 is implicated in, by any mechanism.

• Mitochondrial complex IV deficiency, nuclear type 17 (MC4DN17) MIM:619061

Disease | GeneticClinVar

15 pathogenic / likely-pathogenic of 205 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Mitochondrial complex IV deficiency, nuclear type 17
• Mitochondrial complex IV deficiency, nuclear type 1

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)

1.25

gnomAD pLI

0

DepMap mean gene effect

-0.08

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 6% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• intrinsic apoptotic signaling pathway
• mitochondrial respiratory chain complex IV assembly
• protein stabilization
• response to reactive oxygen species

Cellular components

• matrix side of mitochondrial inner membrane
• mitochondrion

Protein domainsUniProt · Pfam · InterPro

• Cytochrome c oxidase assembly factor 8
• Cytochrome c oxidase assembly factor 8

KeywordsUniProt

• Apoptosis
• Membrane
• Mitochondrion
• Mitochondrion inner membrane
• Primary mitochondrial disease
• Transit peptide
• Ubl conjugation