COX18
Cytochrome c oxidase assembly protein COX18, mitochondrial
Also known as: COX18_HUMAN, FLJ38991, OXA1L2
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q8N8Q8
- Gene
- COX18
- Ensembl
- ENSG00000163626
- Chromosome
- 4
- Canonical length
- 333 aa
- Protein class
- Predicted membrane proteins, Transporters
OverviewNCBI Gene
This gene encodes a cytochrome c oxidase assembly protein. The encoded protein is essential for integral membrane protein insertion into the mitochondrial inner membrane. It is also required for cytochrome c oxidase assembly and activity. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]
Canonical amino-acid sequenceUniProt
333 residues, UniProt reviewed canonical sequence.
>Q8N8Q8|COX18
1 MLCRLGGRWL RPLPALQLWA RDLPLAPVPT SGAKRPTLPV WAVAPVSAVH ANGWYEALAA
61 SSPVRVAEEV LLGVHAATGL PWWGSILLST VALRGAVTLP LAAYQHYILA KVENLQPEIK
121 TIARHLNQEV AVRANQLGWS KRDARLTYLK NMRRLISELY VRDNCHPFKA TVLVWIQLPM
181 WIFMSFALRN LSTGAAHSEG FSVQEQLATG GILWFPDLTA PDSTWILPIS VGVINLLIVE
241 ICALQKIGMS RFQTYITYFV RAMSVLMIPI AATVPSSIVL YWLCSSFVGL SQNLLLRSPG
301 FRQLCRIPST KSDSETPYKD IFAAFNTKFI SRKLocalizationUniProt · AlphaFold · HPA
Whether an antibody against COX18 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
- 3
- Mean surface accessibility (rSASA)
- 0.37
- Highest tissue expression
- 1.4 nTPM
Expression across tissuesHPA
Tissue
- heart muscle: 1.4 nTPM
- skeletal muscle: 1.3 nTPM
- retina: 1.2 nTPM
- liver: 1.1 nTPM
- tongue: 1.1 nTPM
- adrenal gland: 1 nTPM
Single-cell type
- plasma cells: 44 nCPM
- myonuclei: 32 nCPM
- conjunctival goblet cells: 24 nCPM
- adrenal cortex cells: 24 nCPM
- gonadotrophs: 23 nCPM
- monocyte progenitors: 23 nCPM
Immune cell
- memory CD8 T-cell: 0.3 nTPM
- naive CD4 T-cell: 0.3 nTPM
- naive CD8 T-cell: 0.3 nTPM
- plasmacytoid DC: 0.3 nTPM
- classical monocyte: 0.2 nTPM
- gdT-cell: 0.2 nTPM
Brain region
- cerebellum: 5.2 nTPM
- choroid plexus: 5.1 nTPM
- cerebral cortex: 4.7 nTPM
- hypothalamus: 4.7 nTPM
- amygdala: 4.2 nTPM
- basal ganglia: 4.2 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about COX18.
Disease | GeneticClinVar
3 pathogenic / likely-pathogenic of 74 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Charcot-marie-tooth disease, axonal, type 2MM
Disease | ImmuneIEDB
Conditions an epitope on COX18 was assayed in.
- glioblastoma T cell
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)
- 1.7
- gnomAD pLI
- 0
- gnomAD missense Z
- 0.13
- DepMap mean gene effect
- -0.21
- 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
- mitochondrial respiratory chain complex IV assembly
- protein insertion into mitochondrial inner membrane from matrix
- protein insertion into mitochondrial membrane
- respiratory chain complex IV assembly
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of COX18 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 COX18 as an antibody target. Whether an autoantibody or antibody against COX18 could matter depends on whether native COX18 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
COX18 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 COX18 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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