Seroatlas · Human Serome Atlas

COA6

Cytochrome c oxidase assembly factor 6 homolog

Also known as: C1orf31, COA6_HUMAN

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession
Q5JTJ3
Gene
COA6
Ensembl
ENSG00000168275
Chromosome
1
Canonical length
125 aa
Protein class
Disease related genes, Human disease related genes, Predicted intracellular proteins
Subcellular location
Nucleoplasm,Mitochondria

OverviewNCBI Gene

This gene encodes a member of the cytochrome c oxidase subunit 6B family. The encoded protein associates with cytochrome c oxidase may act has an cytochrome c oxidase mitochondrial respiratory complex VI assembly factor. Mutations in this gene may be associated with fatal infantile cardiomyopathy. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2014]

Canonical amino-acid sequenceUniProt

125 residues, UniProt reviewed canonical sequence.

>Q5JTJ3|COA6
     1  MGPGGPLLSP SRGFLLCKTG WHSNRLLGDC GPHTPVSTAL SFIAVGMAAP SMKERQVCWG
    61  ARDEYWKCLD ENLEDASQCK KLRSSFESSC PQQWIKYFDK RRDYLKFKEK FEAGQFEPSE
   121  TTAKS

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against COA6 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)
0.55
Highest tissue expression
95 nTPM

Expression across tissuesHPA

Tissue

  • skeletal muscle: 95 nTPM
  • basal ganglia: 60 nTPM
  • tongue: 57 nTPM
  • amygdala: 47 nTPM
  • cerebral cortex: 47 nTPM
  • duodenum: 42 nTPM

Single-cell type

  • gastric progenitor cells: 173 nCPM
  • esophageal basal cells: 151 nCPM
  • esophageal suprabasal cells: 137 nCPM
  • hofbauer cells: 98 nCPM
  • extravillous trophoblasts: 92 nCPM
  • parietal cells: 87 nCPM

Immune cell

  • T-reg: 86 nTPM
  • myeloid DC: 77 nTPM
  • classical monocyte: 71 nTPM
  • intermediate monocyte: 68 nTPM
  • memory B-cell: 66 nTPM
  • naive CD4 T-cell: 65 nTPM

Brain region

  • basal ganglia: 33 nTPM
  • cerebral cortex: 29 nTPM
  • hippocampal formation: 22 nTPM
  • white matter: 22 nTPM
  • pons: 20 nTPM
  • choroid plexus: 19 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about COA6.

Disease | AllUniProt

Conditions COA6 is implicated in, by any mechanism.

  • Mitochondrial complex IV deficiency, nuclear type 13 (MC4DN13) MIM:616501

Disease | GeneticClinVar

5 pathogenic / likely-pathogenic of 84 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

  • Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4
  • See cases

Disease | ImmuneIEDB

Conditions an epitope on COA6 was assayed in.

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)
1.45
gnomAD pLI
0.01
gnomAD missense Z
0.72
DepMap mean gene effect
-0.3
DepMap dependency class
selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 9% 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

InteractionsUniProt · HPA

Protein binding partners of COA6 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 COA6 as an antibody target. Whether an autoantibody or antibody against COA6 could matter depends on whether native COA6 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

COA6 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 COA6 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/COA6. 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).

© 2026 · Seroatlas, Discover Oregon LLC · Terms of use

Loading the interactive Seroatlas protein explorer...