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FLASH GENE
Symbol CFI contributors: mct/npt - updated : 24-11-2009
HGNC name complement factor I
HGNC id 5394
Corresponding disease
CFID complement factor I ('eye') deficiency
Location 4q25      Physical location : 110.661.849 - 110.723.335
Synonym name
  • C3-inactivator
  • light chain of factor I
  • I factor (complement)
  • konglutinogen-activating factor
  • light chain of factor I
  • Synonym symbol(s) C3I, FI, C3b-INA, KAF, IF
    EC.number 3.4.21.45
    DNA
    TYPE functioning gene
    STRUCTURE 61.49 kb     13 Exon(s)
    MAPPING cloned Y linked Y status confirmed
    Map cen - GC - CXCL10 - ADH5 - EGF - IF - IL2 IL2 - MNS - qter
    Authors Shiang (99)
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    13 - 2171 - 583 - Shin (2009)
    EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveliver    
    Nervousbrain    
    Urinarykidney    
    cell lineage
    cell lines
    fluid/secretion plasma
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • one SRCR domain
  • two LDL-receptor class A domains
  • one peptidase S1 domain
  • conjugated GlycoP
    mono polymer heteromer , dimer
    isoforms Precursor with two alternatively spliced isoforms C3I alpha, C3I beta
    HOMOLOGY
    Homologene
    FAMILY
  • trypsin-like family of serine proteinases
  • peptidase S1 family
  • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION extracellular
        plasma membrane
        intracellular
    intracellular,cytoplasm
    basic FUNCTION
  • serine proteinase that modulates the complement cascade by regulating the levels of C3 convertases
  • inactivating complement subcomponents C3b, iC3b and C4b by proteolytic cleavage
  • two-chain serine protease in which the light chain carries the catalytic domain while the heavy chain's function is unclear (Kavanagh 2008)
  • crucial regulator of mammalian complement activity (Shin 2009)
  • destroying the hemolytic and immune-adherence activities of cell-bound, activated C3
  • CELLULAR PROCESS protein, degradation
    PHYSIOLOGICAL PROCESS immunity/defense
    text
  • anti-pathogen response
  • innate immunity
  • PATHWAY
    metabolism
    signaling
    a component
  • component 3 of complement
  • heterodimer of a light and a heavy chains linked by disulfide bonds
  • INTERACTION
    DNA
    RNA
    small molecule cofactor,
  • factor H
  • protein
    cell & other
    REGULATION
    Other markedly activated HF1 and MCP (membrane cofactor protein)
    ASSOCIATED DISORDERS
    corresponding disease(s) CFID
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional germinal mutation      
    complement factor 1 deficiency
    constitutional germinal mutation      
    glomerulonephrites C3
    Susceptibility to atypical hemolytic uremic syndrome
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS