COA5

Protein identityUniProt · HPA

UniProt accession

Q86WW8

Gene

COA5

Ensembl

ENSG00000183513

Chromosome

2

Canonical length

74 aa

Protein class

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

Subcellular location

Mitochondria

OverviewNCBI Gene

This gene encodes an ortholog of yeast Pet191, which in yeast is a subunit of a large oligomeric complex associated with the mitochondrial inner membrane, and required for the assembly of the cytochrome c oxidase complex. Mutations in this gene are associated with mitochondrial complex IV deficiency, a disorder of the mitochondrial respiratory chain with heterogeneous clinical manifestations, ranging from isolated myopathy to a severe disease affecting several tissues and organs. [provided by RefSeq, Dec 2011]

Canonical amino-acid sequenceUniProt

74 residues, UniProt reviewed canonical sequence.

>Q86WW8|COA5
     1  MPKYYEDKPQ GGACAGLKED LGACLLQSDC VVQEGKSPRQ CLKEGYCNSL KYAFFECKRS
    61  VLDNRARFRG RKGY

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against COA5 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)

0.44

Highest tissue expression

44 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about COA5.

Disease | AllUniProt

Conditions COA5 is implicated in, by any mechanism.

• Mitochondrial complex IV deficiency, nuclear type 9 (MC4DN9) MIM:616500

Disease | GeneticClinVar

1 pathogenic / likely-pathogenic of 37 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3

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)

1.52

gnomAD pLI

0.02

gnomAD missense Z

0.38

DepMap mean gene effect

-0.46

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

• leukocyte differentiation
• mitochondrial respiratory chain complex IV assembly
• multicellular organism growth
• spleen development
• thymus development

Cellular components

• mitochondrial inner membrane
• mitochondrion

Protein domainsUniProt · Pfam · InterPro

• Cytochrome c oxidase assembly protein PET191
• Cytochrome c oxidase assembly protein PET191

KeywordsUniProt

• Cytochrome c-type biogenesis
• Disulfide bond
• Mitochondrion
• Phosphoprotein
• Primary mitochondrial disease