CFI


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 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].

NameOMIM IDEnsembl IDHGNC IDPHARMGKB IDMap Location
complement factor IMIM:217030Ensembl:ENSG00000205403HGNC:HGNC:5394PA296414q25

Gene Categories:

PROTEASEDRUGGABLE GENOME

GO terms in CFI


Term TypeEvidence TypeGO Term IDGO Des.
MFTASGO:0004252serine-type endopeptidase activity
MFIEAGO:0005044scavenger receptor activity
MFIPIGO:0005515protein binding
MFIEAGO:0046872metal ion binding
BPIEAGO:0006508proteolysis
BPIEAGO:0006898receptor-mediated endocytosis
BPIEAGO:0006958complement activation, classical pathway
BPTASGO:0030449regulation of complement activation
BPIEAGO:0045087innate immune response
CCTASGO:0005576extracellular region
CCHDAGO:0005615extracellular space
CCIEAGO:0016020membrane
CCHDAGO:0070062extracellular exosome

Gene expression in normal tissue: CFI

Gene-model tissue-cancer distribution: Bubble Plot

Gene-drug pathway distribution

Pathways in CFI


DatabasePathway IDPathway Des.
reactomeR-HSA-166658Complement cascade
reactomeR-HSA-168249Innate Immune System
reactomeR-HSA-168256Immune System
reactomeR-HSA-977606Regulation of Complement cascade
kegghsa04610Complement and coagulation cascades - Homo sapiens (human)
kegghsa05150Staphylococcus aureus infection - Homo sapiens (human)
wikipathwaysWP2806Human Complement System
wikipathwaysWP3896Dengue-2 Interactions with Complement and Coagulation Cascades
wikipathwaysWP558Complement and Coagulation Cascades

Gene-Drug: Aster Plot


Drug IDDrug NameModel Num.
iGMDRD123Isoevodiamine2
iGMDRD945ML2142
iGMDRD154NSC237662
iGMDRD85Ursolic acid1
iGMDRD57Chloropentafluorobenzene3
iGMDRD424Tamatinib2
iGMDRD512nutlin 32
iGMDRD248BRD43541
iGMDRD263AACOCF33
iGMDRD246NPC266
iGMDRD286Nsc 6328395
iGMDRD872BRD71372
iGMDRD662JQ-13
iGMDRD705Nakiterpiosin2
iGMDRD289Parthenolide1
iGMDRD105Triptolide5
iGMDRD434BMS-5369241
iGMDRD121GMX17782
iGMDRD158NSC1415404
iGMDRD466Chaetocin1
iGMDRD394BX-7952
iGMDRD634SCHEMBL26080413
iGMDRD193Fqi13
iGMDRD781Sirolimus12
iGMDRD126Tipifarnib3
iGMDRD151CHM-12
iGMDRD889Compound 7d-cis3
iGMDRD420Leucascandrolide A2
iGMDRD1008SR-II-138A2
iGMDRD690PRIMA-1MET2
iGMDRD60Quinoclamine2
iGMDRD451Serdemetan4
iGMDRD100Zebularine5
iGMDRD887Compound 23 citrate3
iGMDRD74Idarubicin1
iGMDRD577BIX012946
iGMDRD888Compound 442
iGMDRD780PP-303
iGMDRD562Navitoclax6
iGMDRD171Pemetrexed4
iGMDRD318PAC-13
iGMDRD870BRD636101
iGMDRD187BRD98762
iGMDRD138PX 122

Gene in drug-gene network: Network Plot

Gene-drug targets distribution

Gene Structure: PDB

Models in CFI

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