Gene

cfi

ID
ZDB-GENE-110922-7
Name
complement factor I
Symbol
cfi Nomenclature History
Previous Names
  • gb:ai721528 (1)
Type
protein_coding_gene
Location
Unmapped
Description
Predicted to have scavenger receptor activity and serine-type endopeptidase activity. Involved in retinal blood vessel morphogenesis. Predicted to localize to membrane. Human ortholog(s) of this gene implicated in Kuhnt-Junius degeneration; age related macular degeneration 13; atypical hemolytic-uremic syndrome; complement factor I deficiency; and macular degeneration. Orthologous to human CFI (complement factor I).
Genome Resources
Note
None
Expression
All Expression Data
Fig. 2 from Lam et al., 2011
Cross-Species Comparison
High Throughput Data
Wild Type Expression Summary
Phenotype
All Phenotype Data
Fig. 5 from van de Ven et al., 2013
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With cfi Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
age related macular degeneration 13 Alliance {Macular degeneration, age-related, 13, susceptibility to} 615439
complement factor I deficiency Alliance Complement factor I deficiency 610984
{Hemolytic uremic syndrome, atypical, susceptibility to, 3} 612923
Associated With cfi Via Experimental Models
No data available
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Active_site IPR018114 Serine proteases, trypsin family, histidine active site
Active_site IPR033116 Serine proteases, trypsin family, serine active site
Domain IPR001190 SRCR domain
Domain IPR001254 Serine proteases, trypsin domain
Domain IPR003884 Factor I / membrane attack complex
Domain IPR017448 SRCR-like domain
Family IPR001314 Peptidase S1A, chymotrypsin family
Homologous_superfamily IPR009003 Peptidase S1, PA clan
Homologous_superfamily IPR036055 LDL receptor-like superfamily
Homologous_superfamily IPR036772 SRCR-like domain superfamily
Homologous_superfamily IPR043504 Peptidase S1, PA clan, chymotrypsin-like fold
Repeat IPR002172 Low-density lipoprotein (LDL) receptor class A repeat
Domain Details Per Protein
Protein Length Factor I / membrane attack complex LDL receptor-like superfamily Low-density lipoprotein (LDL) receptor class A repeat Peptidase S1A, chymotrypsin family Peptidase S1, PA clan Peptidase S1, PA clan, chymotrypsin-like fold Serine proteases, trypsin domain Serine proteases, trypsin family, histidine active site Serine proteases, trypsin family, serine active site SRCR domain SRCR-like domain SRCR-like domain superfamily
UniProtKB:A1L2D9 619
UniProtKB:A5PL57 401
Transcripts
Genome Browsers
No data available
No data available
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Citations