CFHR3
entrez
10878
canonical
uniprot
Q02985
canonical
ensembl
ENSG00000116785
resolver
ensp
ENSP00000356395
resolver
ensp
ENSP00000375845
resolver
genesymbol
CFHR3
resolver
genesymbol_syn
CFHL3
resolver
genesymbol_syn
FHR3
resolver
hgnc
HGNC:16980
resolver
uniprot
B4DPR0
resolver
uniprot
Q9UJ16
resolver
uniprot_entry
FHR3_HUMAN
resolver
uniprot_sec
B4DPR0
resolver
uniprot_sec
Q9UJ16
resolver
amino_acid_sequence
MLLLINVILTLWVSCANGQVKPCDFPDIKHGGLFHENMRRPYFPVAVGKYYSYYCDEHFETPSGSYWDYIHCTQNGWSPAVPCLRKCYFPYLENGYNQNYGRKFVQGNSTEVACHPGYGLPKAQTTVTCTEKGWSPTPRCIRVRTCSKSDIEIENGFISESSSIYILNKEIQYKCKPGYATADGNSSGSITCLQNGWSAQPICINSSEKCGPPPPISNGDTTSFLLKVYVPQSRVEYQCQPYYELQGSNYVTCSNGEWSEPPRCIHPCIITEENMNKNNIKLKGRSDRKYYAKTGDTIEFMCKLGYNANTSILSFQAVCREGIVEYPRCE
uniprot
proteins
disease_involvement
DISEASE: Hemolytic uremic syndrome, atypical, 1 (AHUS1) [MIM:235400]: An atypical form of hemolytic uremic syndrome. It is a complex genetic disease characterized by microangiopathic hemolytic anemia, thrombocytopenia, renal failure and absence of episodes of enterocolitis and diarrhea. In contrast to typical hemolytic uremic syndrome, atypical forms have a poorer prognosis, with higher death rates and frequent progression to end-stage renal disease. {ECO:0000269|PubMed:17367211}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry. A deletion encompassing CFHR1 and CFHR3 is associated with an increased risk of atypical hemolytic uremic syndrome, likely due to a defective regulation of complement activation (PubMed:17367211). Some patients carrying the deletion have serum anti-CFH autoantibodies (PubMed:18006700). {ECO:0000269|PubMed:17367211, ECO:0000269|PubMed:18006700}.
uniprot
proteins
function
FUNCTION: Might be involved in complement regulation.
uniprot
proteins
mass_dalton
37323
uniprot
proteins
pubmed
10781834
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16710414
uniprot
proteins
pubmed
17367211
uniprot
proteins
pubmed
18006700
uniprot
proteins
pubmed
19159218
uniprot
proteins
pubmed
8172644
uniprot
proteins
pubmed
8428964
uniprot
proteins
sequence_length
330
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Secreted.
uniprot
proteins