CFI

GENE INFORMATION

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Gene name

CFI (HGNC Symbol)

Synonyms

C3b-INA, FI, IF, KAF

Description

complement factor I (HGNC Symbol)

Entrez gene summary

This 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]

Chromosome

4 (Chromosome progress)

Cytoband

q25

Chromosome location (bp)

110661852 - 110723335

Ensembl

ENSG00000205403 (version 73.37)

Entrez gene

3426

UniProt

P05156 (UniProt - Evidence at protein level)

neXtProt

NX_P05156

Antibodypedia

CFI antibodies
 

PROTEIN VIEW

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CFI-001
 
CFI-004
 
CFI-006
 
CFI-201
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

CFI-001 ENSP00000427438
ENST00000512148
G3XAM2
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Show » Show » 576 65.1 Yes 0
CFI-004 ENSP00000422009
ENST00000510800
D6R9Z8
Show all »
Show » Show » 161 18.3 Yes 0
CFI-006 ENSP00000378131
ENST00000394635
E7ETH0
Show all »
Show » Show » 591 66.6 Yes 0
CFI-201 ENSP00000378130
ENST00000394634
P05156
Show all »
Show » Show » 583 65.7 Yes 0