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MGP001560

Record overview

MGPD IDMGP001560
Gene ID3426
SpeciesHomo sapiens (Human)
Gene Namecomplement factor I
Gene Symbol CFI
SynonymsFI; IF; KAF; AHUS3; ARMD13; C3BINA; C3b-INA;
Alternate namescomplement factor I; C3B/C4B inactivator; C3b-inactivator; Konglutinogen-activating factor; complement component I; complement control protein factor I; complement factor I heavy chain; light chain of factor I;
Chromosome4
Map Location4q25
EC Number3.4.21.45
SummaryThis gene encodes a serine proteinase that is essential for regulating the complement cascade. The encoded preproprotein is cleaved to produce both heavy and light chains, which are linked by disulfide bonds to form a heterodimeric glycoprotein. This heterodimer can cleave and inactivate the complement components C4b and C3b, and it prevents the assembly of the C3 and C5 convertase enzymes. Defects in this gene cause complement factor I deficiency, an autosomal recessive disease associated with a susceptibility to pyogenic infections. Mutations in this gene have been associated with a predisposition to atypical hemolytic uraemic syndrome, a disease characterized by acute renal failure, microangiopathic hemolytic anemia and thrombocytopenia. Primary glomerulonephritis with immmune deposits is another condition associated with mutation of this gene. [provided by RefSeq, Jul 2008]
OrthologsView orthologs and multiple alignments for CFI

Proteins

complement factor I preproprotein
Refseq ID:NP_000195
Protein GI:119392081
UniProt ID:P05156
mRNA ID:NM_000204
Length:583
RefSeq Status:
MKLLHVFLLFLCFHLRFCKVTYTSQEDLVEKKCLAKKYTHLSCDKVFCQPWQRCIEGTCVCKLPYQCPKNGTAVCATNRRSFPTYCQQKSLECLHPGTKF
LNNGTCTAEGKFSVSLKHGNTDSEGIVEVKLVDQDKTMFICKSSWSMREANVACLDLGFQQGADTQRRFKLSDLSINSTECLHVHCRGLETSLAECTFTK
RRTMGYQDFADVVCYTQKADSPMDDFFQCVNGKYISQMKACDGINDCGDQSDELCCKACQGKGFHCKSGVCIPSQYQCNGEVDCITGEDEVGCAGFASVA
QEETEILTADMDAERRRIKSLLPKLSCGVKNRMHIRRKRIVGGKRAQLGDLPWQVAIKDASGITCGGIYIGGCWILTAAHCLRASKTHRYQIWTTVVDWI
HPDLKRIVIEYVDRIIFHENYNAGTYQNDIALIEMKKDGNKKDCELPRSIPACVPWSPYLFQPNDTCIVSGWGREKDNERVFSLQWGEVKLISNCSKFYG
NRFYEKEMECAGTYDGSIDACKGDSGGPLVCMDANNVTYVWGVVSWGENCGKPEFPGVYTKVANYFDWISYHVGRPFISQYNV
 
sig_peptide: 1..18
inference: COORDINATES: ab initio prediction:SignalP:4.0
calculated_mol_wt: 2281
peptide sequence: 
MKLLHVFLLFLCFHLRFC

mat_peptide: 19..339
product: complement factor I heavy chain
calculated_mol_wt: 35883
peptide sequence: 
KVTYTSQEDLVEKKCLAKKYTHLSCDKVFCQPWQRCIEGTCVCKLPYQCPKNGTAVCATNRRSFPTYCQQKSLECLHPGTKFLNNGTCTAEGKFSVSLKH
GNTDSEGIVEVKLVDQDKTMFICKSSWSMREANVACLDLGFQQGADTQRRFKLSDLSINSTECLHVHCRGLETSLAECTFTKRRTMGYQDFADVVCYTQK
ADSPMDDFFQCVNGKYISQMKACDGINDCGDQSDELCCKACQGKGFHCKSGVCIPSQYQCNGEVDCITGEDEVGCAGFASVAQEETEILTADMDAERRRI
KSLLPKLSCGVKNRMHIRRKR

mat_peptide: 340..583
product: complement factor I light chain
exception: alternative processing
calculated_mol_wt: 27593
peptide sequence: 
IVGGKRAQLGDLPWQVAIKDASGITCGGIYIGGCWILTAAHCLRASKTHRYQIWTTVVDWIHPDLKRIVIEYVDRIIFHENYNAGTYQNDIALIEMKKDG
NKKDCELPRSIPACVPWSPYLFQPNDTCIVSGWGREKDNERVFSLQWGEVKLISNCSKFYGNRFYEKEMECAGTYDGSIDACKGDSGGPLVCMDANNVTY
VWGVVSWGENCGKPEFPGVYTKVANYFDWISYHVGRPFISQYNV
 
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