COQ8A Gene Summary [Human]

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]

Details

Type
Protein Coding
Official Symbol
COQ8A
Official Name
coenzyme Q8A [Source:HGNC Symbol;Acc:HGNC:16812]
Ensembl ID
ENSG00000163050
Bio databases IDs NCBI: 56997 Ensembl: ENSG00000163050
Aliases coenzyme Q8A, coenzyme Q8 homolog (yeast)
Synonyms 4632432J16Rik, ADCK3, ARCA2, CABC1, coenzyme Q8A, COQ10D4, COQ8, LOC100506460, mKIAA0451, SCAR9
Species
Human, Homo sapiens
OrthologiesMouseRat

Protein Domains

A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human COQ8A often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • kinase
  • protein kinase
  • Protein Kinases, catalytic domain
  • ADP binding
  • protein binding
  • enzyme activator activity
  • ABC1 atypical kinase-like domain

Pathways

Biological processes and signaling networks where the COQ8A gene in human plays a role, providing insight into its function and relevance in health or disease.

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
  • environmentally induced seizure
  • hereditary disorder
  • spinocerebellar ataxia recessive 9
  • hyperlipidemia
  • mitochondrial disorder
  • COQ8A-related disorder
  • primary coenzyme Q10 deficiency type 1
  • cataract
  • cerebellar ataxia
  • seizures
regulated by
regulates
role in cell
  • expression in
  • cell death
  • abnormal morphology
  • ferroptosis
  • degeneration

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Cytoplasm
  • Mitochondria
  • mitochondrial inner membrane

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human COQ8A gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • phosphorylation
  • protein phosphorylation
  • ubiquinone biosynthetic process

Cellular Component

Where in the cell the gene product is active
  • membrane
  • mitochondrion

Molecular Function

What the gene product does at the molecular level
  • ATP binding
  • protein binding
  • protein kinase activity
  • ADP binding
  • kinase activity

Gene-Specific Assays for Results You Can Trust

Streamline your workflow with assays designed for this gene. Our targeted dPCR and qPCR assays help you generate meaningful data – efficiently and accurately.