InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: CFI

Summary

InnateDB Protein

IDBP-241177.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

CFI

Protein Name

complement factor I

Synonyms

AHUS3; ARMD13; C3b-INA; C3BINA; FI; IF; KAF;

Species

Homo sapiens

Ensembl Protein

ENSP00000378130

InnateDB Gene

IDBG-33966 (CFI)

Protein Structure

UniProt Annotation

Function

Responsible for cleaving the alpha-chains of C4b and C3b in the presence of the cofactors C4-binding protein and factor H respectively.

Subcellular Localization

Secreted, extracellular space.

Disease Associations

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:0000269PubMed:15173250, ECO:0000269PubMed:16621965, ECO:0000269PubMed:17106690, ECO:0000269PubMed:20513133}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry. Other genes may play a role in modifying the phenotype.Complement factor I deficiency (CFI deficiency) [MIM:610984]: Autosomal recessive condition associated with a propensity to pyogenic infections. {ECO:0000269PubMed:12562389, ECO:0000269PubMed:17018561, ECO:0000269PubMed:8613545}. Note=The disease is caused by mutations affecting the gene represented in this entry.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:0000269PubMed:23685748}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.

Tissue Specificity

Plasma.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 9 experimentally validated interaction(s) in this database.

Experimentally validated
Total	9 [view]
Protein-Protein	8 [view]
Protein-DNA	1 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003824	catalytic activity
GO:0004252	serine-type endopeptidase activity
GO:0005044	scavenger receptor activity
GO:0005515	protein binding
GO:0046872	metal ion binding

Biological Process

GO:0006508	proteolysis
GO:0006898	receptor-mediated endocytosis
GO:0006958	complement activation, classical pathway
GO:0030449	regulation of complement activation
GO:0045087	innate immune response

Cellular Component

GO:0005576	extracellular region
GO:0005615	extracellular space
GO:0005634	nucleus
GO:0016020	membrane
GO:0070062	extracellular vesicular exosome

Protein Structure and Domains

PDB ID

InterPro

IPR001190 SRCR domain
IPR001254 Peptidase S1
IPR001314 Peptidase S1A, chymotrypsin-type
IPR002172 Low-density lipoprotein (LDL) receptor class A repeat
IPR003884 Factor I / membrane attack complex
IPR009003 Trypsin-like cysteine/serine peptidase domain
IPR017448 SRCR-like domain

PFAM

PF00530
PF00089
PF00057

PRINTS

PR00258
PR00722
PR00261

PIRSF

SMART

SM00020
SM00192
SM00057
SM00202

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt