Gene table of CFI : complement factor I

Gene-disease associations table

Disease IDDisease nameSource of annotation with CFIOMIM linkNumber of associated genesgenes
610984COMPLEMENT FACTOR I DEFICIENCYClinVar, OMIM, HUMSAVAR link to OMIM 1CFI
PS603075MACULAR DEGENERATION, AGE-RELATEDOMIM, HUMSAVAR link to OMIM 19RAX2, HMCN1, ERCC6, TLR4, CFHR3, CFI, CFHR1, CFH, C3, HTRA1, ABCA4, CX3CR1, FBLN5, C2, CFB, CST3, APOE, ARMS2, C9
PS235400HEMOLYTIC UREMIC SYNDROMEClinVar, OMIM, HUMSAVAR link to OMIM 11CFH, CFHR3, CFHR1, BAAT, CFI, THBD, C3AR1, C3, CD46, CFB, DGKE

Download the gene annotation in CSV format

Annotation of the gene CFI

Associated genes in ENSEMBL
Associated proteins - SwissProt Accession ID
Associated PDB IDs
Cytogenetic Band
Tandem repeats annotation
Transcription regulation as annotated in TRRUST

It is regulated by the following TF:

Associated KEGG pathways
KEGG pathwayKEGG IDKEGG IC
Complement and coagulation cascadeshsa046106.58
Staphylococcus aureus infectionhsa051506.64
Associated REACTOME pathways
REACTOME pathwayREACTOME IDREACTOME IC
Complement cascadeR-HSA-1666585.38
Innate Immune SystemR-HSA-1682493.17
Regulation of Complement cascadeR-HSA-9776068.4
Immune SystemR-HSA-1682562.37
Associated GO terms for Molecular function
GO termGO IDGO IC
bindingGO:00054880.18
hydrolase activityGO:00167871.9
endopeptidase activityGO:00041753.63
serine-type endopeptidase activityGO:00042524.4
serine hydrolase activityGO:00171714.26
scavenger receptor activityGO:00050445.91
catalytic activityGO:00038241.05
cation bindingGO:00431691.4
ion bindingGO:00431671.36
molecular transducer activityGO:00600892.32
cargo receptor activityGO:00380245.53
receptor activityGO:00048722.32
protein bindingGO:00055150.46
peptidase activity, acting on L-amino acid peptidesGO:00700113.26
peptidase activityGO:00082333.23
metal ion bindingGO:00468721.41
serine-type peptidase activityGO:00082364.27