C9 Gene Summary [Human]
This gene encodes the final component of the complement system. It 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 component C9 deficiency. [provided by RefSeq, Feb 2009]
Details
| Type | Protein Coding |
| Official Symbol | C9 |
| Official Name | complement C9 [Source:HGNC Symbol;Acc:HGNC:1358] |
| Ensembl ID | ENSG00000113600 |
| Bio databases IDs | |
| Aliases | complement C9 |
| Synonyms | ARMD15, C9D, complement C9, complement component 9 |
| Species | Human, Homo sapiens |
| Orthologies |
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 C9 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
- membrane-attack complex / perforin
- MAC/Perforin domain
- LDLa
- protein binding
- Spondin-like TSP1 domain
Pathways
Biological processes and signaling networks where the C9 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
- ovarian cancer
- Alzheimer disease
- epithelial cancer
- Huntington disease
- hepatocellular carcinoma
- liver cancer
- hepatitis B virus-related hepatocellular carcinoma
- age-related macular degeneration
- esophageal adenocarcinoma
- complement 9 deficiency
role in cell
- cell death
- apoptosis
- accumulation
- cytolysis
- killing
- egression
- lysis
- accumulation in
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
- Plasma Membrane
- perinuclear space
- plasma
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human C9 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
- complement activation, classical pathway
- killing of cells of other organism
- protein homooligomerization
- cell killing
- positive regulation of immune response
Cellular Component
Where in the cell the gene product is active
- membrane attack complex
- extracellular space
- extracellular vesicular exosome
- blood microparticle
- extracellular region
- other organism cell membrane
- plasma membrane
Molecular Function
What the gene product does at the molecular level
- protein binding