CFHR5
entrez
81494
canonical
uniprot
Q9BXR6
canonical
ensembl
ENSG00000134389
resolver
ensembl
ENSG00000292002
resolver
ensp
ENSP00000256785
resolver
ensp
ENSP00000514393
resolver
ensp
ENSP00000517752
resolver
enst
ENST00000256785
resolver
enst
ENST00000709541
resolver
genesymbol
CFHR5
resolver
genesymbol_syn
CFHL5
resolver
genesymbol_syn
FHR5
resolver
hgnc
HGNC:24668
resolver
uniprot
Q2NKK2
resolver
uniprot_entry
FHR5_HUMAN
resolver
uniprot_sec
Q2NKK2
resolver
amino_acid_sequence
MLLLFSVILISWVSTVGGEGTLCDFPKIHHGFLYDEEDYNPFSQVPTGEVFYYSCEYNFVSPSKSFWTRITCTEEGWSPTPKCLRMCSFPFVKNGHSESSGLIHLEGDTVQIICNTGYSLQNNEKNISCVERGWSTPPICSFTKGECHVPILEANVDAQPKKESYKVGDVLKFSCRKNLIRVGSDSVQCYQFGWSPNFPTCKGQVRSCGPPPQLSNGEVKEIRKEEYGHNEVVEYDCNPNFIINGPKKIQCVDGEWTTLPTCVEQVKTCGYIPELEYGYVQPSVPPYQHGVSVEVNCRNEYAMIGNNMITCINGIWTELPMCVATHQLKRCKIAGVNIKTLLKLSGKEFNHNSRIRYRCSDIFRYRHSVCINGKWNPEVDCTEKREQFCPPPPQIPNAQNMTTTVNYQDGEKVAVLCKENYLLPEAKEIVCKDGRWQSLPRCVESTAYCGPPPSINNGDTTSFPLSVYPPGSTVTYRCQSFYKLQGSVTVTCRNKQWSEPPRCLDPCVVSEENMNKNNIQLKWRNDGKLYAKTGDAVEFQCKFPHKAMISSPPFRAICQEGKFEYPICE
uniprot
proteins
disease_involvement
DISEASE: Note=Defects in CFHR5 have been found in patients with atypical hemolytic uremic syndrome and may contribute to the disease. Atypical hemolytic uremic syndrome 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. Susceptibility to the development of atypical hemolytic uremic syndrome can be conferred by mutations in various components of or regulatory factors in the complement cascade system. Other genes may play a role in modifying the phenotype. {ECO:0000269|PubMed:20513133, ECO:0000269|PubMed:22622361}.; DISEASE: CFHR5 deficiency (CFHR5D) [MIM:614809]: A progressive disease characterized by glomerulonephritis, hematuria, renal failure, end-stage renal disease, subendothelial and mesangial glomerular C3 deposits, mesangial matrix expansion, increased glomerular cellularity, and segmental capillary wall thickening. Hematuria may become apparent after respiratory infections. {ECO:0000269|PubMed:20800271, ECO:0000269|PubMed:22503529}. Note=The disease is caused by variants affecting the gene represented in this entry.
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. {ECO:0000269|PubMed:23487775}.
uniprot
proteins
mass_dalton
64419
uniprot
proteins
pubmed
11058592
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16959974
uniprot
proteins
pubmed
20513133
uniprot
proteins
pubmed
20800271
uniprot
proteins
pubmed
22503529
uniprot
proteins
pubmed
22622361
uniprot
proteins
pubmed
23487775
uniprot
proteins
sequence_length
569
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Secreted.
uniprot
proteins