CFHR1 Gene Summary [Human]
This gene encodes a secreted protein belonging to the complement factor H protein family. It binds to Pseudomonas aeruginosa elongation factor Tuf together with plasminogen, which is proteolytically activated. It is proposed that Tuf acts as a virulence factor by acquiring host proteins to the pathogen surface, controlling complement, and facilitating tissue invasion. Mutations in this gene are associated with an increased risk of atypical hemolytic-uremic syndrome. [provided by RefSeq, Oct 2009]
Details
| Type | Protein Coding |
| Official Symbol | CFHR1 |
| Official Name | complement factor H related 1 [Source:HGNC Symbol;Acc:HGNC:4888] |
| Ensembl ID | ENSG00000244414 |
| Bio databases IDs | |
| Aliases | complement factor H related 1 |
| Synonyms | CFHL, CFHL1, CFHL1P, CFHR1P, complement factor H related 1, FHL-1, FHR-1, H36, H36-1, H36-2, H-factor-like 1, HFL1, HFL2 |
| Species | Human, Homo sapiens |
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 CFHR1 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
- protein binding
- Sushi repeat (SCR repeat)
- identical protein binding
- consensus repeat domain
- SUSHI repeat
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- liver cancer
- diabetic nephropathy
- factor H-associated hemolytic uremic syndrome
- idiopathic membranous nephropathy
- peripheral arterial disease
- systemic lupus erythematosus
- metastatic colorectal cancer
- antiphospholipid syndrome
role in cell
- migration
- binding
- generation in
- adhesion
- deposition in
- killing
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
- cell surface
- plasma
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human CFHR1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- complement activation
- cytolysis by host of symbiont cells
- negative regulation of protein binding
Cellular Component
Where in the cell the gene product is active
- extracellular space
- blood microparticle
- macromolecular complex
- extracellular region
Molecular Function
What the gene product does at the molecular level
- complement component C3b binding
- identical protein binding
- protein binding