CFHR1: Complement Factor H Related 1
A key regulator of complement alternative pathway and susceptibility to atypical hemolytic uremic syndrome
Gene Information Card
| Symbol | CFHR1 |
|---|---|
| Full Name | Complement Factor H Related 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 1q31.3 |
| NCBI Gene ID | 3078 ncbi.nlm.nih.gov/gene/3078 |
| Ensembl ID | ENSG00000244414 |
| UniProt ID | Q03591 |
| OMIM ID | 134371 |
| HGNC ID | 4888 |
| Aliases | CFHL1, CFHL, FHR1, HFL1, HFL2 |
Description
CFHR1 encodes complement factor H-related protein 1, a member of the complement factor H protein family. This protein is involved in the regulation of the complement alternative pathway, acting as a cofactor for factor I-mediated cleavage of C3b and as a decay-accelerating factor for the C3 convertase. CFHR1 is primarily expressed in the liver and circulates in plasma. Genetic alterations, including deletions and copy number variations, are associated with atypical hemolytic uremic syndrome (aHUS) and C3 glomerulopathy.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Atypical Hemolytic Uremic Syndrome (aHUS) | Deletion or rearrangement of CFHR1 leads to loss of complement regulation on endothelial surfaces, resulting in uncontrolled alternative pathway activation and microvascular thrombosis. | ClinVar, OMIM |
| C3 Glomerulopathy (C3G) | Hybrid CFHR1/CFH genes or CFHR1 deletions cause dysregulation of C3 convertase, leading to complement deposition in glomeruli. | OMIM, NCBI |
| Age-Related Macular Degeneration (AMD) | CFHR1 copy number variations modulate complement activation in the retina, influencing AMD risk. | NCBI, ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | High |
| Plasma | N/A | Secreted |
| Kidney | 1.2 | Low |
| Lung | 0.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 15.3 | Hepatocellular carcinoma cell line |
| HEK293 | 2.1 | Embryonic kidney cells |
| A549 | 0.5 | Lung carcinoma cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| CFHR1 deletion (chr1:196,800,000-196,850,000) | Copy number loss | 0.5% in general population | Loss of CFHR1 protein; risk factor for aHUS |
| CFHR1/CFH hybrid gene | Gene fusion | Rare | Gain-of-function hybrid protein with altered complement regulation |
| c.1A>G (p.Met1Val) | Missense | <0.1% | Loss of start codon; reduced protein expression |
Mutation functional classification
Loss of Function (LOF)
Deletions or nonsense mutations that eliminate CFHR1 protein lead to loss of complement regulation, predisposing to aHUS and C3G.
Gain of Function (GOF)
Hybrid CFHR1/CFH genes produce chimeric proteins with altered binding affinities, potentially enhancing complement dysregulation.
Dominant Negative (DN)
Not well documented; CFHR1 is typically considered a modifier rather than a dominant-negative gene.
View complete mutation data：
Gene Ontology (GO)
| • complement activation | • alternative pathway |
| • complement receptor activity | • extracellular region |
| • protein binding | • regulation of complement activation |
Pathways
• Complement cascade (Reactome: R-HSA-166658)
• Alternative complement activation (KEGG: hsa04610)
Protein Summary
Complement factor H-related protein 1 (FHR1) is a 37 kDa secreted glycoprotein composed of five short consensus repeats (SCRs). It binds to C3b and heparin, modulating complement activation by competing with factor H. FHR1 is involved in immune surveillance and tissue homeostasis. Its deficiency or structural alterations are linked to complement-mediated renal diseases.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CFHR1 Knockout HEK293 Cell Line | EDJ-KQ50345 | Human | 3078 | Details Get a Quote |
| CFHR1 Knockout HeLa Cell Line | EDJ-KQ53511 | Human | 3078 | Details Get a Quote |
| CFHR1 Knockout A-549 Cell Line | EDJ-KQ61980 | Human | 3078 | Details Get a Quote |
| CFHR1 Knockout HCT 116 Cell Line | EDJ-KQ70462 | Human | 3078 | Details Get a Quote |
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