COQ8B Gene Summary [Human]

This gene encodes a protein with two copies of a domain found in protein kinases. The encoded protein has a complete protein kinase catalytic domain, and a truncated domain that contains only the active and binding sites of the protein kinase domain, however, it is not known whether the protein has any kinase activity. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]

Details

Type
Nonsense Mediated Decay
Official Symbol
COQ8B
Official Name
coenzyme Q8B [Source:HGNC Symbol;Acc:HGNC:19041]
Ensembl ID
ENSG00000123815
Bio databases IDs NCBI: 79934 Ensembl: ENSG00000123815
Aliases coenzyme Q8B
Synonyms 0610012P18RIK, ADCK4, coenzyme Q8B, NPHS9
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 COQ8B 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
  • lipid binding
  • Protein Kinases, catalytic domain
  • ABC1 atypical kinase-like domain
  • ATPase

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
  • Kawasaki disease
  • chronic obstructive pulmonary disease
  • nephrotic syndrome type 9
  • retinitis pigmentosa
  • hereditary disorder
  • ulcerative colitis
  • nicotine dependence
  • nephrosis
  • inflammatory bowel disease
  • Crohn disease
regulated by
  • dexamethasone
  • levodopa
  • NR3C1
regulates
  • ubiquinone

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

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human COQ8B gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • cerebellar Purkinje cell layer morphogenesis
  • protein phosphorylation
  • ubiquinone biosynthetic process

Cellular Component

Where in the cell the gene product is active
  • mitochondrial membrane
  • mitochondrion
  • cytosol
  • plasma membrane

Molecular Function

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

Gene-Specific Assays for Results You Can Trust

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