COX5A

Protein identityUniProt · HPA

UniProt accession

P20674

Gene

COX5A

Ensembl

ENSG00000178741

Chromosome

15

Canonical length

150 aa

Protein class

Disease related genes, Human disease related genes, Metabolic proteins, Plasma proteins, Potential drug targets, Predicted intracellular proteins, Transporters

OverviewNCBI Gene

Cytochrome c oxidase (COX) is the terminal enzyme of the mitochondrial respiratory chain. It is a multi-subunit enzyme complex that couples the transfer of electrons from cytochrome c to molecular oxygen and contributes to a proton electrochemical gradient across the inner mitochondrial membrane. The complex consists of 13 mitochondrial- and nuclear-encoded subunits. The mitochondrially-encoded subunits perform the electron transfer of proton pumping activities. The functions of the nuclear-encoded subunits are unknown but they may play a role in the regulation and assembly of the complex. This gene encodes the nuclear-encoded subunit Va of the human mitochondrial respiratory chain enzyme. A pseudogene COX5AP1 has been found in chromosome 14q22. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

150 residues, UniProt reviewed canonical sequence.

>P20674|COX5A
     1  MLGAALRRCA VAATTRADPR GLLHSARTPG PAVAIQSVRC YSHGSQETDE EFDARWVTYF
    61  NKPDIDAWEL RKGINTLVTY DMVPEPKIID AALRACRRLN DFASTVRILE VVKDKAGPHK
   121  EIYPYVIQEL RPTLNELGIS TPEELGLDKV

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against COX5A 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

1,667 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about COX5A.

Disease | AllUniProt

Conditions COX5A is implicated in, by any mechanism.

• Mitochondrial complex IV deficiency, nuclear type 20 (MC4DN20) MIM:619064

Disease | GeneticClinVar

2 pathogenic / likely-pathogenic of 44 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Mitochondrial complex IV deficiency, nuclear type 20

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)

0.79

gnomAD pLI

0.49

gnomAD missense Z

0.25

DepMap mean gene effect

-0.49

DepMap dependency class

selective

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
• mitochondrial electron transport, cytochrome c to oxygen

Molecular functions

• cytochrome-c oxidase activity
• electron transfer activity
• metal ion binding

Cellular components

• mitochondrial inner membrane
• mitochondrial intermembrane space
• mitochondrial membrane
• mitochondrion
• respiratory chain complex IV

Protein domainsUniProt · Pfam · InterPro

• Cytochrome c oxidase, subunit Va/VI
• Cytochrome c oxidase, subunit Va/VI superfamily
• Cytochrome c oxidase subunit Va

KeywordsUniProt

• Acetylation
• Heme
• Iron
• Membrane
• Metal-binding
• Mitochondrion
• Mitochondrion inner membrane
• Phosphoprotein
• Primary mitochondrial disease
• Transit peptide
• Ubl conjugation

InteractionsUniProt · HPA

Protein binding partners of COX5A in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• AFG1L
• RAB5IF
• MT-CO2