COX14

Protein identityUniProt · HPA

UniProt accession

Q96I36

Gene

COX14

Ensembl

ENSG00000178449

Chromosome

12

Canonical length

57 aa

Protein class

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

Subcellular location

Mitochondria

OverviewNCBI Gene

This gene encodes a small single-pass transmembrane protein that localizes to mitochondria. This protein may play a role in coordinating the early steps of cytochrome c oxidase (COX; also known as complex IV) subunit assembly and, in particular, the synthesis and assembly of the COX I subunit of the holoenzyme. Mutations in this gene have been associated with mitochondrial complex IV deficiency. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2012]

Canonical amino-acid sequenceUniProt

57 residues, UniProt reviewed canonical sequence.

>Q96I36|COX14
     1  MPTGKQLADI GYKTFSTSMM LLTVYGGYLC SVRVYHYFQW RRAQRQAAEE QKTSGIM

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against COX14 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)

0.53

Highest tissue expression

374 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about COX14.

Disease | AllUniProt

Conditions COX14 is implicated in, by any mechanism.

• Mitochondrial complex IV deficiency, nuclear type 10 (MC4DN10) MIM:619053

Disease | GeneticClinVar

2 pathogenic / likely-pathogenic of 49 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Mitochondrial complex IV deficiency, nuclear type 10

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)

1.8

gnomAD pLI

0.36

gnomAD missense Z

-0.06

DepMap mean gene effect

-0.19

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

• mitochondrial respiratory chain complex IV assembly

Cellular components

• mitochondrial inner membrane
• mitochondrial outer membrane
• mitochondrion

Protein domainsUniProt · Pfam · InterPro

• Cytochrome c oxidase assembly protein COX14
• Cytochrome oxidase c assembly

KeywordsUniProt

• Membrane
• Mitochondrion
• Mitochondrion outer membrane
• Primary mitochondrial disease
• Transmembrane
• Transmembrane helix