CFH Gene Summary [Human]
This gene is a member of the Regulator of Complement Activation (RCA) gene cluster and encodes a protein with twenty short consensus repeat (SCR) domains. This protein is secreted into the bloodstream and has an essential role in the regulation of complement activation, restricting this innate defense mechanism to microbial infections. Mutations in this gene have been associated with hemolytic-uremic syndrome (HUS) and chronic hypocomplementemic nephropathy. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Oct 2011]
Details
| Type | Protein Coding |
| Official Symbol | CFH |
| Official Name | complement factor H [Source:HGNC Symbol;Acc:HGNC:4883] |
| Ensembl ID | ENSG00000000971 |
| Bio databases IDs | |
| Aliases | complement factor H, beta-1H, H factor 2 (complement), age-related maculopathy susceptibility 1 |
| Synonyms | AHUS1, AMBP-1, ARMD4, ARMS1, CFH isoform 1, CFHL3, complement component factor h, complement factor H, FACTOR H, FH, HF, HF1, HF2, HUS, Mud-1, NOM, Sas-1 |
| 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 CFH often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- CCP
- binding protein
- surface binding domain
- inhibitory domain
- protein binding
- Sushi repeat (SCR repeat)
- complement regulatory protein domain
- consensus repeat domain
- heparin binding
- identical protein binding
- SUSHI repeat
Pathways
Biological processes and signaling networks where the CFH 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
- insulin-dependent diabetes mellitus
- peripheral arterial disease
- hyperplasia
- exudative age-related macular degeneration
- visual disturbance
- factor h deficiency
- factor H-associated hemolytic uremic syndrome
- androgenic alopecia
- idiopathic pulmonary fibrosis
- age-related macular degeneration type 4
role in cell
- expression in
- production in
- survival
- apoptosis
- differentiation
- morphology
- phosphorylation in
- proliferation
- migration
- activation 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
- Cytoplasm
- cell surface
- plasma membrane extracellular face
- Weibel-Palade bodies
- perikaryon
- axons
- plasma
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human CFH 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
- regulation of complement activation
- proteolysis
- regulation of complement activation, alternative pathway
Cellular Component
Where in the cell the gene product is active
- extracellular space
- extracellular vesicular exosome
- blood microparticle
- extracellular region
Molecular Function
What the gene product does at the molecular level
- complement component C3b binding
- identical protein binding
- protein binding
- heparan sulfate proteoglycan binding
- heparin binding