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P05156 Proteins LDL-receptor class A domain Repeats
Uniprot ID:P05156
Protein name: Complement factor I
Gene : CFI IF
Protein Family:Peptidase S1 family
Squence Length : 583
Sequnce
>P05156 584 MKLLHVFLLFLCFHLRFCKVTYTSQEDLVEKKCLAKKYTHLSCDKVFCQPWQRCIEGTCVCKLPYQCPKNGTAVCATNRRSFPTYCQQKSLECLHPGTKFLNNGTCTAEGKFSVSLKHGNTDSEGIVEVKLVDQDKTMFICKSSWSMREANVACLDLGFQQGADTQRRFKLSDLSINSTECLHVHCRGLETSLAECTFTKRRTMGYQDFADVVCYTQKADSPMDDFFQCVNGKYISQMKACDGINDCGDQSDELCCKACQGKGFHCKSGVCIPSQYQCNGEVDCITGEDEVGCAGFASVTQEETEILTADMDAERRRIKSLLPKLSCGVKNRMHIRRKRIVGGKRAQLGDLPWQVAIKDASGITCGGIYIGGCWILTAAHCLRASKTHRYQIWTTVVDWIHPDLKRIVIEYVDRIIFHENYNAGTYQNDIALIEMKKDGNKKDCELPRSIPACVPWSPYLFQPNDTCIVSGWGREKDNERVFSLQWGEVKLISNCSKFYGNRFYEKEMECAGTYDGSIDACKGDSGGPLVCMDANNVTYVWGVVSWGENCGKPEFPGVYTKVANYFDWISYHVGRPFISQYNV
Domains
DOMAIN 55 108 Kazal-like DOMAIN 114 212 SRCR DOMAIN 213 257 LDL-receptor class A 1 DOMAIN 258 294 LDL-receptor class A 2 DOMAIN 340 574 Peptidase S1
LDL-receptor class A sequence regions
213 - 257 YTQKADSPMDDFFQCVNGKYISQMKACDGINDCGDQSDELCCKAC 258 - 294 QGKGFHCKSGVCIPSQYQCNGEVDCITGEDEVGCAGF
Function
Responsible for cleaving the alpha-chains of C4b and C3b in the presence of the cofactors C4-binding protein and factor H respectively
Active Site
ACT_SITE 380 380 Charge relay system. ACT_SITE 429 429 Charge relay system. ACT_SITE 525 525 Charge relay system
Calcium Binding
CA_BIND 239 253 1. CA_BIND 276 290 2
Disease
"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 Note=Disease susceptibility is associated with variations 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 Note=The disease is caused by mutations 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 Note=Disease susceptibility is associated with variations affecting the gene represented in this entry"