CFHR1 (complement factor H related 1)

2014-04-01  

Identity

HGNC
LOCATION
1q31.3
LOCUSID
ALIAS
CFHL,CFHL1,CFHL1P,CFHR1P,FHR-1,FHR1,H36,H36-1,H36-2,HFL1,HFL2

Other Information

Locus ID:

NCBI: 3078
MIM: 134371
HGNC: 4888
Ensembl: ENSG00000244414

Variants:

dbSNP: 3078
ClinVar: 3078
TCGA: ENSG00000244414
COSMIC: CFHR1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000244414ENST00000320493Q03591
ENSG00000244414ENST00000367424B1AKG0

Expression (GTEx)

0
50
100
150
200
250

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
169984892006A common CFH haplotype, with deletion of CFHR1 and CFHR3, is associated with lower risk of age-related macular degeneration.174
169984892006A common CFH haplotype, with deletion of CFHR1 and CFHR3, is associated with lower risk of age-related macular degeneration.174
173672112007Deletion of complement factor H-related genes CFHR1 and CFHR3 is associated with atypical hemolytic uremic syndrome.101
198616852010Association of factor H autoantibodies with deletions of CFHR1, CFHR3, CFHR4, and with mutations in CFH, CFI, CD46, and C3 in patients with atypical hemolytic uremic syndrome.99
180067002008Factor H autoantibodies in atypical hemolytic uremic syndrome correlate with CFHR1/CFHR3 deficiency.93
208438252010An imbalance of human complement regulatory proteins CFHR1, CFHR3 and factor H influences risk for age-related macular degeneration (AMD).89
174386732006Extended haplotypes in the complement factor H (CFH) and CFH-related (CFHR) family of genes protect against age-related macular degeneration: characterization, ethnic distribution and evolutionary implications.87
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
237281782013C3 glomerulopathy-associated CFHR1 mutation alters FHR oligomerization and complement regulation.69
216377842011Association of genetic variants in complement factor H and factor H-related genes with systemic lupus erythematosus susceptibility.62

Citation

Dessen P

CFHR1 (complement factor H related 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-04-01

Online version: http://atlasgeneticsoncology.org/gene/53854/cfhr1-(complement-factor-h-related-1)