COX17
Cytochrome c oxidase copper chaperone
Also known as: COX17_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q14061
- Gene
- COX17
- Ensembl
- ENSG00000138495
- Chromosome
- 3
- Canonical length
- 63 aa
- Protein class
- Cancer-related genes, Predicted intracellular proteins
- Subcellular location
- Mitochondria
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 a protein which is not a structural subunit, but may be involved in the recruitment of copper to mitochondria for incorporation into the COX apoenzyme. This protein shares 92% amino acid sequence identity with mouse and rat Cox17 proteins. This gene is no longer considered to be a candidate gene for COX deficiency. A pseudogene COX17P has been found on chromosome 13. [provided by RefSeq, Jul 2008]
Canonical amino-acid sequenceUniProt
63 residues, UniProt reviewed canonical sequence.
>Q14061|COX17
1 MPGLVDSNPA PPESQEKKPL KPCCACPETK KARDACIIEK GEEHCGHLIE AHKECMRALG
61 FKILocalizationUniProt · AlphaFold · HPA
Whether an antibody against COX17 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)
- 0.5
- Highest tissue expression
- 486 nTPM
Expression across tissuesHPA
Tissue
- skeletal muscle: 486 nTPM
- heart muscle: 401 nTPM
- parathyroid gland: 385 nTPM
- tongue: 339 nTPM
- choroid plexus: 297 nTPM
- adrenal gland: 256 nTPM
Single-cell type
- parietal cells: 1,167 nCPM
- cardiomyocytes: 727 nCPM
- hepatocytes: 722 nCPM
- megakaryocytes: 699 nCPM
- gastric progenitor cells: 423 nCPM
- thymic myoid cells: 378 nCPM
Immune cell
- eosinophil: 633 nTPM
- basophil: 596 nTPM
- plasmacytoid DC: 541 nTPM
- non-classical monocyte: 490 nTPM
- memory B-cell: 380 nTPM
- intermediate monocyte: 359 nTPM
Brain region
- choroid plexus: 137 nTPM
- hypothalamus: 83 nTPM
- cerebellum: 70 nTPM
- white matter: 70 nTPM
- medulla oblongata: 67 nTPM
- pons: 66 nTPM
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)
- 1.54
- gnomAD pLI
- 0.2
- gnomAD missense Z
- 0.23
- DepMap mean gene effect
- -0.75
- DepMap dependency class
- common
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 7% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
- Cysteine alpha-hairpin motif superfamily
- Cytochrome c oxidase copper chaperone
- Cytochrome C oxidase copper chaperone (COX17)
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of COX17 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads COX17 as an antibody target. Whether an autoantibody or antibody against COX17 could matter depends on whether native COX17 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
COX17 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 COX17 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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