Seroatlas · Human Serome Atlas

COA7

Cytochrome c oxidase assembly factor 7

Also known as: C1orf163, COA7_HUMAN, FLJ12439, RESA1, SELRC1

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

Protein identityUniProt · HPA

UniProt accession: Q96BR5
Gene: COA7
Ensembl: ENSG00000162377
Chromosome: 1
Canonical length: 231 aa
Protein class: Disease related genes, Human disease related genes, Predicted intracellular proteins
Subcellular location: Nucleoplasm,Mitochondria

OverviewNCBI Gene

Enables protein-disulfide reductase activity. Involved in respiratory chain complex IV assembly. Located in mitochondrion and nucleoplasm. Is active in mitochondrial intermembrane space. Implicated in spinocerebellar ataxia with axonal neuropathy type 3. [provided by Alliance of Genome Resources, Jul 2025]

Canonical amino-acid sequenceUniProt

231 residues, UniProt reviewed canonical sequence.

>Q96BR5|COA7
     1  MAGMVDFQDE EQVKSFLENM EVECNYHCYH EKDPDGCYRL VDYLEGIRKN FDEAAKVLKF
    61  NCEENQHSDS CYKLGAYYVT GKGGLTQDLK AAARCFLMAC EKPGKKSIAA CHNVGLLAHD
   121  GQVNEDGQPD LGKARDYYTR ACDGGYTSSC FNLSAMFLQG APGFPKDMDL ACKYSMKACD
   181  LGHIWACANA SRMYKLGDGV DKDEAKAEVL KNRAQQLHKE QQKGVQPLTF G

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against COA7 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): 0.3
Highest tissue expression: 19 nTPM

Expression across tissuesHPA

Tissue

tongue: 19 nTPM
skeletal muscle: 15 nTPM
liver: 11 nTPM
pancreas: 10 nTPM
kidney: 9 nTPM
cerebral cortex: 8.1 nTPM

Single-cell type

migrating cytotrophoblasts: 26 nCPM
esophageal basal cells: 25 nCPM
syncytiotrophoblasts: 24 nCPM
cytotrophoblasts: 22 nCPM
colonocytes: 19 nCPM
erythrocyte progenitors: 19 nCPM

Immune cell

intermediate monocyte: 4.3 nTPM
myeloid DC: 3 nTPM
classical monocyte: 2.9 nTPM
non-classical monocyte: 2.1 nTPM
memory B-cell: 1.7 nTPM
basophil: 1.6 nTPM

Brain region

cerebral cortex: 19 nTPM
basal ganglia: 18 nTPM
white matter: 18 nTPM
hypothalamus: 17 nTPM
cerebellum: 17 nTPM
pons: 16 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about COA7.

Disease | AllUniProt

Conditions COA7 is implicated in, by any mechanism.

Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 (SCAN3) MIM:618387

Disease | GeneticClinVar

10 pathogenic / likely-pathogenic of 80 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3

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): 1.02
gnomAD pLI: 0.06
gnomAD missense Z: 0.67
DepMap mean gene effect: -0.42
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 6% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

respiratory chain complex IV assembly

Molecular functions

protein-disulfide reductase activity

Cellular components

Protein domainsUniProt · Pfam · InterPro

Sel1-like repeat
Tetratricopeptide-like helical domain superfamily
Sel1 repeat
Beta-lactamase HcpB-like

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads COA7 as an antibody target. Whether an autoantibody or antibody against COA7 could matter depends on whether native COA7 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

COA7 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 COA7 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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