COX10
Protoheme IX farnesyltransferase, mitochondrial
Also known as: COX10_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q12887
- Gene
- COX10
- Ensembl
- ENSG00000006695
- Chromosome
- 17
- Canonical length
- 443 aa
- Protein class
- Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted intracellular proteins, Predicted membrane proteins
- Subcellular location
- Nucleoli,Mitochondria,Cytosol
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 heme A:farnesyltransferase, which is not a structural subunit but required for the expression of functional COX and functions in the maturation of the heme A prosthetic group of COX. This protein is predicted to contain 7-9 transmembrane domains localized in the mitochondrial inner membrane. A gene mutation, which results in the substitution of a lysine for an asparagine (N204K), is identified to be responsible for cytochrome c oxidase deficiency. In addition, this gene is disrupted in patients with CMT1A (Charcot-Marie-Tooth type 1A) duplication and with HNPP (hereditary neuropathy with liability to pressure palsies) deletion. [provided by RefSeq, Jul 2008]
Canonical amino-acid sequenceUniProt
443 residues, UniProt reviewed canonical sequence.
>Q12887|COX10
1 MAASPHTLSS RLLTGCVGGS VWYLERRTIQ DSPHKFLHLL RNVNKQWITF QHFSFLKRMY
61 VTQLNRSHNQ QVRPKPEPVA SPFLEKTSSG QAKAEIYEMR PLSPPSLSLS RKPNEKELIE
121 LEPDSVIEDS IDVGKETKEE KRWKEMKLQV YDLPGILARL SKIKLTALVV STTAAGFALA
181 PGPFDWPCFL LTSVGTGLAS CAANSINQFF EVPFDSNMNR TKNRPLVRGQ ISPLLAVSFA
241 TCCAVPGVAI LTLGVNPLTG ALGLFNIFLY TCCYTPLKRI SIANTWVGAV VGAIPPVMGW
301 TAATGSLDAG AFLLGGILYS WQFPHFNALS WGLREDYSRG GYCMMSVTHP GLCRRVALRH
361 CLALLVLSAA APVLDITTWT FPIMALPINA YISYLGFRFY VDADRRSSRR LFFCSLWHLP
421 LLLLLMLTCK RPSGGGDAGP PPSLocalizationUniProt · AlphaFold · HPA
Whether an antibody against COX10 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
- 7
- Mean surface accessibility (rSASA)
- 0.37
- Highest tissue expression
- 41 nTPM
Expression across tissuesHPA
Tissue
- tongue: 41 nTPM
- skeletal muscle: 41 nTPM
- heart muscle: 25 nTPM
- testis: 20 nTPM
- duodenum: 12 nTPM
- colon: 12 nTPM
Single-cell type
- cardiomyocytes: 191 nCPM
- late spermatids: 181 nCPM
- myonuclei: 159 nCPM
- choroid plexus epithelial cells: 129 nCPM
- distal convoluted tubule cells: 77 nCPM
- renal collecting duct intercalated cells: 76 nCPM
Immune cell
- T-reg: 20 nTPM
- intermediate monocyte: 16 nTPM
- myeloid DC: 15 nTPM
- non-classical monocyte: 14 nTPM
- memory B-cell: 13 nTPM
- naive CD4 T-cell: 12 nTPM
Brain region
- choroid plexus: 8.1 nTPM
- cerebellum: 7.5 nTPM
- thalamus: 7.3 nTPM
- hypothalamus: 7.1 nTPM
- medulla oblongata: 7.1 nTPM
- cerebral cortex: 6.9 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about COX10.
Disease | AllUniProt
Conditions COX10 is implicated in, by any mechanism.
- Mitochondrial complex IV deficiency, nuclear type 3 (MC4DN3) MIM:619046
Disease | GeneticClinVar
15 pathogenic / likely-pathogenic of 365 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Mitochondrial complex IV deficiency, nuclear type 3
- Mitochondrial complex IV deficiency, nuclear type 1
- Inborn genetic diseases
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)
- 0.61
- gnomAD pLI
- 0.08
- gnomAD missense Z
- -0.18
- DepMap mean gene effect
- -0.38
- 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
- aerobic respiration
- copper ion homeostasis
- heme A biosynthetic process
- heme biosynthetic process
- leukocyte differentiation
- lipid metabolic process
- mitochondrial fission
- multicellular organism growth
- respiratory chain complex IV assembly
Molecular functions
- geranylgeranyl diphosphate synthase activity
- protoheme IX farnesyltransferase activity
Cellular components
Protein domainsUniProt · Pfam · InterPro
- UbiA prenyltransferase
- UbiA prenyltransferase conserved site
- UbiA prenyltransferase superfamily
- UbiA prenyltransferase family
- Protohaem IX farnesyltransferase
- Protohaem IX farnesyltransferase, mitochondria
KeywordsUniProt
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads COX10 as an antibody target. Whether an autoantibody or antibody against COX10 could matter depends on whether native COX10 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
COX10 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 COX10 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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