Seroatlas · Human Serome Atlas

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 PPS

LocalizationUniProt · 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.

Disease | GeneticClinVar

15 pathogenic / likely-pathogenic of 365 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

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

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

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.

Canonical record: https://seroatlas.com/gene/COX10. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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