CFHR1
entrez
3078
canonical
uniprot
Q03591
canonical
ensembl
ENSG00000244414
resolver
ensp
ENSP00000314299
resolver
ensp
ENSP00000514391
resolver
ensp
ENSP00000514392
resolver
ensp
ENSP00000557458
resolver
ensp
ENSP00000557459
resolver
ensp
ENSP00000557461
resolver
ensp
ENSP00000557472
resolver
enst
ENST00000320493
resolver
enst
ENST00000699454
resolver
enst
ENST00000699455
resolver
genesymbol
CFHR1
resolver
genesymbol_syn
CFHL
resolver
genesymbol_syn
CFHL1
resolver
genesymbol_syn
CFHL1P
resolver
genesymbol_syn
CFHR1P
resolver
genesymbol_syn
FHR1
resolver
genesymbol_syn
HFL1
resolver
genesymbol_syn
HFL2
resolver
hgnc
HGNC:4888
resolver
uniprot
A0A8V8TNS5
resolver
uniprot
A0A8V8TQ26
resolver
uniprot
A8K465
resolver
uniprot
Q3B774
resolver
uniprot
Q9UJ17
resolver
uniprot_entry
A0A8V8TNS5_HUMAN
resolver
uniprot_entry
A0A8V8TQ26_HUMAN
resolver
uniprot_entry
FHR1_HUMAN
resolver
uniprot_sec
A8K465
resolver
uniprot_sec
Q3B774
resolver
uniprot_sec
Q9UJ17
resolver
amino_acid_sequence
MWLLVSVILISRISSVGGEATFCDFPKINHGILYDEEKYKPFSQVPTGEVFYYSCEYNFVSPSKSFWTRITCTEEGWSPTPKCLRLCFFPFVENGHSESSGQTHLEGDTVQIICNTGYRLQNNENNISCVERGWSTPPKCRSTDTSCVNPPTVQNAHILSRQMSKYPSGERVRYECRSPYEMFGDEEVMCLNGNWTEPPQCKDSTGKCGPPPPIDNGDITSFPLSVYAPASSVEYQCQNLYQLEGNKRITCRNGQWSEPPKCLHPCVISREIMENYNIALRWTAKQKLYLRTGESAEFVCKRGYRLSSRSHTLRTTCWDGKLEYPTCAKR
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: 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. {ECO:0000269|PubMed:23487775}.
uniprot
proteins
mass_dalton
37651
uniprot
proteins
post_translational_modification
PTM: N-glycosylated. Two forms are observed; one with a single side chain and the other with two. {ECO:0000269|PubMed:16335952}.
uniprot
proteins
pubmed
10781834
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16335952
uniprot
proteins
pubmed
16710414
uniprot
proteins
pubmed
1711047
uniprot
proteins
pubmed
17367211
uniprot
proteins
pubmed
18006700
uniprot
proteins
pubmed
1825108
uniprot
proteins
pubmed
1826708
uniprot
proteins
pubmed
23204165
uniprot
proteins
pubmed
23487775
uniprot
proteins
pubmed
8172644
uniprot
proteins
sequence_length
330
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Secreted.
uniprot
proteins