CFP
entrez
5199
canonical
uniprot
P27918
canonical
ensembl
ENSG00000126759
resolver
ensp
ENSP00000247153
resolver
ensp
ENSP00000380189
resolver
ensp
ENSP00000532793
resolver
enst
ENST00000247153
resolver
enst
ENST00000396992
resolver
enst
ENST00000862734
resolver
genesymbol
CFP
resolver
genesymbol_syn
PFC
resolver
hgnc
HGNC:8864
resolver
uniprot
A0A0S2Z4I5
resolver
uniprot
O15134
resolver
uniprot
O15135
resolver
uniprot
O15136
resolver
uniprot
O75826
resolver
uniprot_entry
A0A0S2Z4I5_HUMAN
resolver
uniprot_entry
PROP_HUMAN
resolver
uniprot_sec
O15134
resolver
uniprot_sec
O15135
resolver
uniprot_sec
O15136
resolver
uniprot_sec
O75826
resolver
amino_acid_sequence
MITEGAQAPRLLLPPLLLLLTLPATGSDPVLCFTQYEESSGKCKGLLGGGVSVEDCCLNTAFAYQKRSGGLCQPCRSPRWSLWSTWAPCSVTCSEGSQLRYRRCVGWNGQCSGKVAPGTLEWQLQACEDQQCCPEMGGWSGWGPWEPCSVTCSKGTRTRRRACNHPAPKCGGHCPGQAQESEACDTQQVCPTHGAWATWGPWTPCSASCHGGPHEPKETRSRKCSAPEPSQKPPGKPCPGLAYEQRRCTGLPPCPVAGGWGPWGPVSPCPVTCGLGQTMEQRTCNHPVPQHGGPFCAGDATRTHICNTAVPCPVDGEWDSWGEWSPCIRRNMKSISCQEIPGQQSRGRTCRGRKFDGHRCAGQQQDIRHCYSIQHCPLKGSWSEWSTWGLCMPPCGPNPTRARQRLCTPLLPKYPPTVSMVEGQGEKNVTFWGRPLPRCEELQGQKLVVEEKRPCLHVPACKDPEEEEL
uniprot
proteins
disease_involvement
DISEASE: Properdin deficiency (PFD) [MIM:312060]: Results in higher susceptibility to bacterial infections; especially to meningococcal infections. Three phenotypes have been reported: complete deficiency (type I), incomplete deficiency (type II), and dysfunction of properdin (type III). {ECO:0000269|PubMed:10909851, ECO:0000269|PubMed:28264884, ECO:0000269|PubMed:31507604, ECO:0000269|PubMed:8871668, ECO:0000269|PubMed:9710744}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: A positive regulator of the alternate pathway (AP) of complement (PubMed:16301317, PubMed:20382442, PubMed:28264884, PubMed:9748277). It binds to and stabilizes the C3- and C5-convertase enzyme complexes (PubMed:16301317, PubMed:20382442, PubMed:28264884, PubMed:9748277). Inhibits CFI-CFH mediated degradation of Complement C3 beta chain (C3b) (PubMed:31507604). {ECO:0000269|PubMed:16301317, ECO:0000269|PubMed:20382442, ECO:0000269|PubMed:28264884, ECO:0000269|PubMed:31507604, ECO:0000269|PubMed:9748277}.
uniprot
proteins
mass_dalton
51276
uniprot
proteins
mutagenesis
MUTAGEN 47; /note="L->A: Inhibits oligomerization; when associated with A-58 and A-275."; /evidence="ECO:0000269|PubMed:31507604"; MUTAGEN 58; /note="L->A: Inhibits oligomerization; when associated with A-47 and A-275."; /evidence="ECO:0000269|PubMed:31507604"; MUTAGEN 244; /note="E->R: Inhibits oligomerization."; /evidence="ECO:0000269|PubMed:31507604"; MUTAGEN 275; /note="L->A: Inhibits oligomerization; when associated with A-47 and A-58."; /evidence="ECO:0000269|PubMed:31507604"; MUTAGEN 329; /note="R->A: Significantly decreases Complement C3 beta chain binding."; /evidence="ECO:0000269|PubMed:31507604"; MUTAGEN 330; /note="R->A: Slightly decreases Complement C3 beta chain binding."; /evidence="ECO:0000269|PubMed:31507604"; MUTAGEN 351; /note="R->A: Decreases Complement C3 beta chain binding."; /evidence="ECO:0000269|PubMed:31507604"; MUTAGEN 353; /note="R->A: Significantly decreases Complement C3 beta chain binding."; /evidence="ECO:0000269|PubMed:31507604"; MUTAGEN 359; /note="R->A: Significantly decreases Complement C3 beta chain binding."; /evidence="ECO:0000269|PubMed:31507604"; MUTAGEN 364..365; /note="QQ->AA: Decreases Complement C3 beta chain binding."; /evidence="ECO:0000269|PubMed:31507604"; MUTAGEN 456; /note="L->V: Inhibits oligomerization; when associated with A-47 and A-58."; /evidence="ECO:0000269|PubMed:31507604
uniprot
proteins
pubmed
10878002
uniprot
proteins
pubmed
10909851
uniprot
proteins
pubmed
12096136
uniprot
proteins
pubmed
1417780
uniprot
proteins
pubmed
1431505
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15491616
uniprot
proteins
pubmed
15772651
uniprot
proteins
pubmed
16301317
uniprot
proteins
pubmed
16335952
uniprot
proteins
pubmed
16959974
uniprot
proteins
pubmed
19139490
uniprot
proteins
pubmed
2009915
uniprot
proteins
pubmed
20382442
uniprot
proteins
pubmed
28264884
uniprot
proteins
pubmed
31507604
uniprot
proteins
pubmed
8530058
uniprot
proteins
pubmed
8871668
uniprot
proteins
pubmed
9710744
uniprot
proteins
pubmed
9748277
uniprot
proteins
sequence_length
469
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Secreted {ECO:0000269|PubMed:28264884, ECO:0000269|PubMed:31507604}.
uniprot
proteins