C8A Gene Summary [Human]

C8 is a component of the complement system and contains three polypeptides, alpha, beta and gamma. This gene encodes the alpha subunit of C8. C8 participates in the formation of the membrane attack complex (MAC). The MAC assembles on bacterial membranes to form a pore, permitting disruption of bacterial membrane organization. Mutations in this gene cause complement C8 alpha-gamma deficiency. [provided by RefSeq, Nov 2008]

Details

Type
Protein Coding
Official Symbol
C8A
Official Name
complement C8 alpha chain [Source:HGNC Symbol;Acc:HGNC:1352]
Ensembl ID
ENSG00000157131
Bio databases IDs NCBI: 731 Ensembl: ENSG00000157131
Aliases complement C8 alpha chain
Synonyms C8 alpha, C8 α, complement C8 alpha chain, complement C8 α chain, complement component 8, alpha polypeptide, complement component 8, α polypeptide
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 C8A often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • Thrombospondin type 1 repeats
  • Thrombospondin type 1 domain
  • binding protein
  • thrombospondin-1 motif
  • membrane-attack complex / perforin
  • MAC/Perforin domain
  • LDL receptor binding domain
  • LDLa
  • protein binding
  • Spondin-like TSP1 domain
  • EGF-like domain

Pathways

Biological processes and signaling networks where the C8A 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
  • diabetic nephropathy
  • non-insulin-dependent diabetes mellitus
  • hepatocellular carcinoma
  • liver cancer
  • epithelial cancer
  • COVID-19
  • complement component C8 deficiency type 1
  • hepatitis B virus-related hepatocellular carcinoma
  • hemolysis
regulated by
regulates

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Extracellular Space
  • cellular membrane
  • Plasma Membrane
  • plasma

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human C8A gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • complement activation
  • complement activation, alternative pathway
  • immune response
  • complement activation, classical pathway
  • killing of cells of other organism
  • positive regulation of immune response

Cellular Component

Where in the cell the gene product is active
  • membrane attack complex
  • extracellular space
  • extracellular vesicular exosome
  • membrane
  • blood microparticle
  • extracellular region
  • plasma membrane

Molecular Function

What the gene product does at the molecular level
  • protein binding
  • complement binding

Gene-Specific Assays for Results You Can Trust

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