CFHR1

Chr 1q31.3

complement factor H related 1

Aliases:: H36-1, FHR1, CFHL, H36-2
MANE:: ENST00000320493.10

OMIM: 134371 ↗NCBI: 3078 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

CFHR1 · Q03591

v62025-08-01

Predicted Aligned Error matrix for CFHR1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

89.1/ 100

Confident

330 residues

Confidence breakdown

Very high(≥ 90)73%
Confident(70–90)19%
Low(50–70)2%
Very low(< 50)5%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Atypical haemolytic uraemic syndrome
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
COVID-19 research
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Membranoproliferative glomerulonephritis including C3 glomerulopathy
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Disease associations (Open Targets)

complement 3 glomerulopathy
0.47
age-related macular degeneration
0.45
C3 glomerulonephritis
0.37
dense deposit disease
0.37
complement deficiency
0.37
atypical hemolytic-uremic syndrome with I factor anomaly
0.35
degeneration of macula and posterior pole
0.35
macular degeneration
0.34
COVID-19
0.21
chronic kidney disease
0.17

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Complement factor H-related protein 1

Involved in complement regulation. The dimerized forms have avidity for tissue-bound complement fragments and efficiently compete with the physiological complement inhibitor CFH. Can associate with lipoproteins and may play a role in lipid metabolism