Tbio CFI Complement factor I

Protein Summary

Description

Responsible for cleaving the alpha-chains of C4b and C3b in the presence of the cofactors C4-binding protein and factor H respectively. 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 uremic syndrome, a disease characterized by acute renal failure, microangiopathic hemolytic anemia and thrombocytopenia. Primary glomerulonephritis with immune deposits and age-related macular degeneration are other conditions associated with mutations of this gene. [provided by RefSeq, Dec 2015]

Uniprot Accession IDs

• P05156
• O60442

Gene Name

• CFI

Ensembl ID

• ENST00000394634
• ENSP00000378130
• ENSG00000205403

Symbol

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

Knowledge Table

Most Knowledge About	Knowledge Value (0 to 1 scale)
protein domain	1
kinase perturbation	0.71
disease	0.66
tissue sample	0.66
biological term	0.65

Protein Classes

No PANTHER Classes or DTO Classes found

IDG Development Level Summary

Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 405.71   (req: < 5)

Gene RIFs: 89   (req: <= 3)

Antibodies: 567   (req: <= 50)

Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 405.71   (req: >= 5)

Gene RIFs: 89   (req: > 3)

Antibodies: 567   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 6

Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0

Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0