COX6B1

Protein identityUniProt · HPA

UniProt accession

P14854

Gene

COX6B1

Ensembl

ENSG00000126267

Chromosome

19

Canonical length

86 aa

Protein class

Disease related genes, Human disease related genes, Metabolic proteins, Plasma proteins, Predicted intracellular 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 electron transfer, and the nuclear-encoded subunits may be involved in the regulation and assembly of the complex. This nuclear gene encodes subunit VIb. Mutations in this gene are associated with severe infantile encephalomyopathy. Three pseudogenes COX6BP-1, COX6BP-2 and COX6BP-3 have been found on chromosomes 7, 17 and 22q13.1-13.2, respectively. [provided by RefSeq, Jan 2010]

Canonical amino-acid sequenceUniProt

86 residues, UniProt reviewed canonical sequence.

>P14854|COX6B1
     1  MAEDMETKIK NYKTAPFDSR FPNQNQTRNC WQNYLDFHRC QKAMTAKGGD ISVCEWYQRV
    61  YQSLCPTSWV TDWDEQRAEG TFPGKI

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against COX6B1 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)

0.38

Highest tissue expression

2,288 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about COX6B1.

Disease | AllUniProt

Conditions COX6B1 is implicated in, by any mechanism.

• Mitochondrial complex IV deficiency, nuclear type 7 (MC4DN7) MIM:619051

Disease | GeneticClinVar

2 pathogenic / likely-pathogenic of 71 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Mitochondrial complex IV deficiency, nuclear type 1
• Mitochondrial complex IV deficiency, nuclear type 7

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)

1.17

gnomAD pLI

0.12

gnomAD missense Z

0.75

DepMap mean gene effect

-0.43

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

• cellular respiration
• mitochondrial electron transport, cytochrome c to oxygen
• substantia nigra development

Molecular functions

• cytochrome-c oxidase activity

Cellular components

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

Protein domainsUniProt · Pfam · InterPro

• Cytochrome c oxidase, subunit VIb
• Cytochrome c oxidase subunit 6B/Cytochrome c oxidase assembly factor 6-like superfamily
• Cytochrome oxidase c subunit VIb-like
• Cytochrome oxidase c subunit VIb

KeywordsUniProt

• Acetylation
• Disulfide bond
• Membrane
• Mitochondrion
• Mitochondrion inner membrane
• Primary mitochondrial disease