CFI
entrez
3426
canonical
uniprot
P05156
canonical
ensembl
ENSG00000205403
resolver
ensp
ENSP00000378130
resolver
ensp
ENSP00000378131
resolver
ensp
ENSP00000427438
resolver
ensp
ENSP00000552874
resolver
ensp
ENSP00000552875
resolver
ensp
ENSP00000663397
resolver
ensp
ENSP00000691672
resolver
ensp
ENSP00000691673
resolver
ensp
ENSP00000778833
resolver
ensp
ENSP00000778834
resolver
ensp
ENSP00000778835
resolver
ensp
ENSP00000778836
resolver
ensp
ENSP00000783215
resolver
enst
ENST00000394634
resolver
enst
ENST00000394635
resolver
enst
ENST00000512148
resolver
genesymbol
CFI
resolver
genesymbol_syn
IF
resolver
hgnc
HGNC:5394
resolver
uniprot
A8K3L0
resolver
uniprot
B4DRF2
resolver
uniprot
E7ETH0
resolver
uniprot
G3XAM2
resolver
uniprot
O60442
resolver
uniprot
Q8WW88
resolver
uniprot_entry
A8K3L0_HUMAN
resolver
uniprot_entry
B4DRF2_HUMAN
resolver
uniprot_entry
CFAI_HUMAN
resolver
uniprot_entry
E7ETH0_HUMAN
resolver
uniprot_entry
G3XAM2_HUMAN
resolver
uniprot_entry
Q8WW88_HUMAN
resolver
uniprot_sec
O60442
resolver
amino_acid_sequence
MKLLHVFLLFLCFHLRFCKVTYTSQEDLVEKKCLAKKYTHLSCDKVFCQPWQRCIEGTCVCKLPYQCPKNGTAVCATNRRSFPTYCQQKSLECLHPGTKFLNNGTCTAEGKFSVSLKHGNTDSEGIVEVKLVDQDKTMFICKSSWSMREANVACLDLGFQQGADTQRRFKLSDLSINSTECLHVHCRGLETSLAECTFTKRRTMGYQDFADVVCYTQKADSPMDDFFQCVNGKYISQMKACDGINDCGDQSDELCCKACQGKGFHCKSGVCIPSQYQCNGEVDCITGEDEVGCAGFASVTQEETEILTADMDAERRRIKSLLPKLSCGVKNRMHIRRKRIVGGKRAQLGDLPWQVAIKDASGITCGGIYIGGCWILTAAHCLRASKTHRYQIWTTVVDWIHPDLKRIVIEYVDRIIFHENYNAGTYQNDIALIEMKKDGNKKDCELPRSIPACVPWSPYLFQPNDTCIVSGWGREKDNERVFSLQWGEVKLISNCSKFYGNRFYEKEMECAGTYDGSIDACKGDSGGPLVCMDANNVTYVWGVVSWGENCGKPEFPGVYTKVANYFDWISYHVGRPFISQYNV
uniprot
proteins
disease_involvement
DISEASE: Hemolytic uremic syndrome, atypical, 3 (AHUS3) [MIM:612923]: 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:15173250, ECO:0000269|PubMed:16621965, ECO:0000269|PubMed:17106690, ECO:0000269|PubMed:20513133}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry. Other genes may play a role in modifying the phenotype.; DISEASE: Complement factor I deficiency (CFI deficiency) [MIM:610984]: Autosomal recessive condition associated with a propensity to pyogenic infections. {ECO:0000269|PubMed:12562389, ECO:0000269|PubMed:17018561, ECO:0000269|PubMed:8613545}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Macular degeneration, age-related, 13 (ARMD13) [MIM:615439]: A form of age-related macular degeneration, a multifactorial eye disease and the most common cause of irreversible vision loss in the developed world. In most patients, the disease is manifest as ophthalmoscopically visible yellowish accumulations of protein and lipid that lie beneath the retinal pigment epithelium and within an elastin-containing structure known as Bruch membrane. {ECO:0000269|PubMed:23685748}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
3.4.21.45
uniprot
proteins
function
FUNCTION: Trypsin-like serine protease that plays an essential role in regulating the immune response by controlling all complement pathways. Inhibits these pathways by cleaving three peptide bonds in the alpha-chain of C3b and two bonds in the alpha-chain of C4b thereby inactivating these proteins (PubMed:17320177, PubMed:7360115). Essential cofactors for these reactions include factor H and C4BP in the fluid phase and membrane cofactor protein/CD46 and CR1 on cell surfaces (PubMed:12055245, PubMed:2141838, PubMed:9605165). The presence of these cofactors on healthy cells allows degradation of deposited C3b by CFI in order to prevent undesired complement activation, while in apoptotic cells or microbes, the absence of such cofactors leads to C3b-mediated complement activation and subsequent opsonization (PubMed:28671664). {ECO:0000269|PubMed:12055245, ECO:0000269|PubMed:17320177, ECO:0000269|PubMed:2141838, ECO:0000269|PubMed:28671664, ECO:0000269|PubMed:7360115, ECO:0000269|PubMed:9605165}.
uniprot
proteins
mass_dalton
65750
uniprot
proteins
protein_family
Peptidase S1 family
uniprot
proteins
pubmed
12055245
uniprot
proteins
pubmed
12562389
uniprot
proteins
pubmed
14760718
uniprot
proteins
pubmed
15173250
uniprot
proteins
pubmed
15815621
uniprot
proteins
pubmed
16335952
uniprot
proteins
pubmed
16621965
uniprot
proteins
pubmed
17018561
uniprot
proteins
pubmed
17106690
uniprot
proteins
pubmed
17320177
uniprot
proteins
pubmed
18544012
uniprot
proteins
pubmed
19139490
uniprot
proteins
pubmed
19159218
uniprot
proteins
pubmed
19838169
uniprot
proteins
pubmed
20513133
uniprot
proteins
pubmed
2141838
uniprot
proteins
pubmed
21768352
uniprot
proteins
pubmed
23685748
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
28671664
uniprot
proteins
pubmed
2954545
uniprot
proteins
pubmed
2956252
uniprot
proteins
pubmed
6327681
uniprot
proteins
pubmed
6444659
uniprot
proteins
pubmed
7360115
uniprot
proteins
pubmed
7672128
uniprot
proteins
pubmed
8613545
uniprot
proteins
pubmed
9291131
uniprot
proteins
pubmed
9479036
uniprot
proteins
pubmed
9605165
uniprot
proteins
sequence_length
583
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Secreted, extracellular space. Secreted {ECO:0000269|PubMed:6327681}.
uniprot
proteins