COQ8A

Protein identityUniProt · HPA

UniProt accession

Q8NI60

Gene

COQ8A

Ensembl

ENSG00000163050

Chromosome

1

Canonical length

647 aa

Protein class

Disease related genes, Enzymes, Human disease related genes, Potential drug targets, Predicted intracellular proteins

Subcellular location

Mitochondria

Quaternary structure

Homodimer

OverviewNCBI Gene

This gene encodes a mitochondrial protein similar to yeast ABC1, which functions in an electron-transferring membrane protein complex in the respiratory chain. It is not related to the family of ABC transporter proteins. Expression of this gene is induced by the tumor suppressor p53 and in response to DNA damage, and inhibiting its expression partially suppresses p53-induced apoptosis. Alternatively spliced transcript variants have been found; however, their full-length nature has not been determined. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

647 residues, UniProt reviewed canonical sequence.

>Q8NI60|COQ8A
     1  MAAILGDTIM VAKGLVKLTQ AAVETHLQHL GIGGELIMAA RALQSTAVEQ IGMFLGKVQG
    61  QDKHEEYFAE NFGGPEGEFH FSVPHAAGAS TDFSSASAPD QSAPPSLGHA HSEGPAPAYV
   121  ASGPFREAGF PGQASSPLGR ANGRLFANPR DSFSAMGFQR RFFHQDQSPV GGLTAEDIEK
   181  ARQAKARPEN KQHKQTLSEH ARERKVPVTR IGRLANFGGL AVGLGFGALA EVAKKSLRSE
   241  DPSGKKAVLG SSPFLSEANA ERIVRTLCKV RGAALKLGQM LSIQDDAFIN PHLAKIFERV
   301  RQSADFMPLK QMMKTLNNDL GPNWRDKLEY FEERPFAAAS IGQVHLARMK GGREVAMKIQ
   361  YPGVAQSINS DVNNLMAVLN MSNMLPEGLF PEHLIDVLRR ELALECDYQR EAACARKFRD
   421  LLKGHPFFYV PEIVDELCSP HVLTTELVSG FPLDQAEGLS QEIRNEICYN ILVLCLRELF
   481  EFHFMQTDPN WSNFFYDPQQ HKVALLDFGA TREYDRSFTD LYIQIIRAAA DRDRETVRAK
   541  SIEMKFLTGY EVKVMEDAHL DAILILGEAF ASDEPFDFGT QSTTEKIHNL IPVMLRHRLV
   601  PPPEETYSLH RKMGGSFLIC SKLKARFPCK AMFEEAYSNY CKRQAQQ

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against COQ8A 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

1

Mean surface accessibility (rSASA)

0.36

Highest tissue expression

1,091 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about COQ8A.

Disease | AllUniProt

Conditions COQ8A is implicated in, by any mechanism.

• Coenzyme Q10 deficiency, primary, 4 (COQ10D4) MIM:612016

Disease | GeneticClinVar

109 pathogenic / likely-pathogenic of 821 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Autosomal recessive ataxia due to ubiquinone deficiency
• Inborn genetic diseases
• Mitochondrial disease
• Possible mitochondrial disorder - nuclear genes
• COQ8A-related disorder

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)

1.01

gnomAD pLI

0

DepMap mean gene effect

0.05

DepMap dependency class

none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 8% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• phosphorylation
• ubiquinone biosynthetic process

Molecular functions

• ADP binding
• ATP binding
• enzyme activator activity
• kinase activity
• protein kinase activity

Cellular components

• extrinsic component of mitochondrial inner membrane
• mitochondrion

Protein domainsUniProt · Pfam · InterPro

• ABC1 atypical kinase-like domain
• Protein kinase-like domain superfamily
• ADCK3-like domain
• Atypical kinase ADCK
• ABC1 atypical kinase-like domain

KeywordsUniProt

• ATP-binding
• Kinase
• Membrane
• Mitochondrion
• Neurodegeneration
• Nucleotide-binding
• Primary mitochondrial disease
• Transferase
• Transit peptide
• Transmembrane
• Transmembrane helix
• Ubiquinone biosynthesis

InteractionsUniProt · HPA

Protein binding partners of COQ8A in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• COQ9