COX7B
Cytochrome c oxidase subunit 7B, mitochondrial
Also known as: COX7B_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- P24311
- Gene
- COX7B
- Ensembl
- ENSG00000131174
- Chromosome
- X
- Canonical length
- 80 aa
- Protein class
- Disease related genes, Human disease related genes, Metabolic proteins, Predicted intracellular proteins, Predicted membrane proteins
OverviewNCBI Gene
Cytochrome c oxidase (COX), the terminal component of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. This component 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 function in the regulation and assembly of the complex. This nuclear gene encodes subunit VIIb, which is highly similar to bovine COX VIIb protein and is found in all tissues. This gene may have several pseudogenes on chromosomes 1, 2, 20 and 22. [provided by RefSeq, Jun 2011]
Canonical amino-acid sequenceUniProt
80 residues, UniProt reviewed canonical sequence.
>P24311|COX7B
1 MFPLVKSALN RLQVRSIQQT MARQSHQKRT PDFHDKYGNA VLASGATFCI VTWTYVATQV
61 GIEWNLSPVG RVTPKEWRNQLocalizationUniProt · AlphaFold · HPA
Whether an antibody against COX7B 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)
- 0.55
- Highest tissue expression
- 1,053 nTPM
Expression across tissuesHPA
Tissue
- skeletal muscle: 1,053 nTPM
- heart muscle: 1,007 nTPM
- tongue: 707 nTPM
- choroid plexus: 401 nTPM
- kidney: 378 nTPM
- parathyroid gland: 282 nTPM
Single-cell type
- parietal cells: 4,892 nCPM
- esophageal apical cells: 2,136 nCPM
- esophageal suprabasal cells: 1,962 nCPM
- colonocytes: 1,437 nCPM
- hepatocytes: 1,308 nCPM
- enterocytes: 1,272 nCPM
Immune cell
- intermediate monocyte: 328 nTPM
- non-classical monocyte: 318 nTPM
- myeloid DC: 304 nTPM
- total PBMC: 262 nTPM
- T-reg: 239 nTPM
- classical monocyte: 228 nTPM
Brain region
- choroid plexus: 162 nTPM
- cerebellum: 137 nTPM
- hypothalamus: 131 nTPM
- cerebral cortex: 125 nTPM
- thalamus: 116 nTPM
- white matter: 111 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about COX7B.
Disease | AllUniProt
Conditions COX7B is implicated in, by any mechanism.
- Linear skin defects with multiple congenital anomalies 2 (LSDMCA2) MIM:300887
Disease | GeneticClinVar
4 pathogenic / likely-pathogenic of 50 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Linear skin defects with multiple congenital anomalies 2
- Nonpapillary renal cell carcinoma
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)
- 0.82
- gnomAD pLI
- 0.67
- gnomAD missense Z
- 0.42
- DepMap mean gene effect
- -0.61
- DepMap dependency class
- common
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
- central nervous system development
- mitochondrial electron transport, cytochrome c to oxygen
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads COX7B as an antibody target. Whether an autoantibody or antibody against COX7B could matter depends on whether native COX7B is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
COX7B is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label COX7B as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
Loading the interactive Seroatlas protein explorer...