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FLASH GENE
Symbol CFH contributors: shn/pgu - updated : 20-04-2015
HGNC name complement factor H
HGNC id 4883
Corresponding disease
ARMD4 age-related macular degeneration 4
HUS hemolytic-uremic syndrome, atypical
Location 1q31.3      Physical location : 196.621.007 - 196.716.631
Synonym name
  • H factor 1 (complement)
  • factor H-like 1
  • beta-1H
  • beta-1-H-globulin
  • H factor 2 (complement)
  • complement factor H, isoform b
  • adrenomedullin binding protein 1
  • Synonym symbol(s) FH, HF, HF1, HF2, FHL1, AHUS1, ARMS1, CFHL3, MGC88246, AMBP1
    DNA
    TYPE functioning gene
    STRUCTURE 95.63 kb     22 Exon(s)
    regulatory sequence Binding site
    text structure
  • exons 18-20 is a domain important for host recognition
  • three binding sites for C3b
  • MAPPING cloned Y linked Y status confirmed
    Map cen - D1S2757 - D1S2794 - CFH - D1S2840 - D1S413 - qter
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    22 splicing 4200 155 1231 - 2002 11851332
  • also called transcript variant 1/isoform a
  • 20 SUSHI domains
  • 10 splicing 1835 48 449 - 2002 11851332
    also called transcript variant 2
  • an alternate exon resulting in an early stop codon
  • isoform b, also known as the "factor H-like 1" or "FHL-1" isoform has a distinct C-terminus and is shorter than isoform a
  • EXPRESSION
    Type ubiquitous
    constitutive of
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart    
    Digestiveintestinesmall intestine  highly
     liver   highly
    Reproductivefemale systemuterus   
    Respiratoryrespiratory tracttrachea  highly
    Urinarybladder   highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Epithelialsecretoryglandular  
    Muscularstriatumskeletal  
    cell lineage
    cell lines
    fluid/secretion plasma
    at STAGE
    physiological period fetal
    Text spleen
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • twenty short concensus repeat (SCR, sushi) domains
  • conjugated GlycoP
    HOMOLOGY
    interspecies ortholog to cfh, Danio rerio
    ortholog to Cfh, Rattus norvegicus
    ortholog to Cfh, Mus musculus
    ortholog to CFH, Pan trogloytes
    Homologene
    FAMILY
    CATEGORY immunity/defense , regulatory
    SUBCELLULAR LOCALIZATION extracellular
    text secreted
    basic FUNCTION
  • involved in the regulation of complement activation and protection of cellular surfaces from complement activation (restricting this innate defense mechanism to microbial infections)
  • an adhesion ligand for human neutrophils but not for eosinophils
  • is one essential complement inhibitor that binds to the acute phase reactant C-reactive protein
  • acting as a cofactor with factor I also known as C3b inactivator
  • it regulates the activity of C3 convertases, such as C4b2a
  • critically required for the long-term functional health of the retina
  • mediates anti-inflammatory housekeeping functions by protecting self cells from complement activation
  • major regulator of the complement system and protects host tissues from complement-mediated damage
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS immunity/defense
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • complement factor I, CF1 and C3B (
  • alphaMbeta2 (CD11b/CD18) (
  • selectin L, SELL (
  • C-reactive protein, CRP (
  • binding the complement C3b in competition with Bb in the assembly of C3 convertase and downregulating proteins of the alternative pathway in the complement system
  • dermatan sulfate-binding protein
  • Adrenomedullin, AM (
  • integrin-binding sialoprotein, IBSP; secreted phosphoprotein 1, SPP1 (
  • phosphoglycerate mutase (ScGpm1p) (
  • pentraxin 3 long, PTX3 (
  • interacting with ADIPOQ (adiponectin controls activation of the terminal complement pathway by binding CFH)(
  • reciprocal synergistic effects of ADM and CFH (
  • role of IL27 in regulating complement activation through up-regulation of CFH, suggesting that defects in IL27 signaling or expression may contribute to the reduction of CFH expression in the retina of patients with AMD
  • CFH can bind pro-inflammatory monomeric CRP (mCRP) as well as the circulating pentameric form
  • cell & other
  • platelets
  • REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) HUS , ARMD4
    Susceptibility
  • to age-related macular degeneration (see ARMDS4)
  • to atypical hemolytic and uremic syndromewith nephropathy
  • to membranoproliferative glomerulonephritis type II(dense deposit disease)
  • to meningococcal disease
  • Variant & Polymorphism SNP , repeat , other
  • Y402H located in SCR7 coupled with a modifiable lifestyle factor such as cigarette smoking confers a significantly higher risk of age-related macular degeneration
  • SNPs within complement factor H (CFH) rs1065489
  • than either factor alone
  • A2089G or G2881T increasing the risk of atypical hemolytic and uremic syndrome
  • SNP increasing the risk of macular degeneration (in association with ERCC6 SNPs)
  • SNP increasing the risk of membranoproliferative glomerulonephritis type II(dense deposit disease)
  • CFH Tyr402His is not a major risk factor for overall early AMD in this Latino population, but may play a role in susceptibility to phenotypes of early AMD likely to progress to late AMD
  • SNP rs1410996 moderately increased the risk of exudative age-related macular degeneration in a Chinese population
  • SNPs within complement factor H (CFH) rs1065489 associated with host susceptibility to meningococcal disease
  • rs800292 is a potential marker for typical neovascularization (
  • mutation causing the R1210C alteration is associated with age-related macular degeneration, but also associated with a rare renal glomerular disease
  • Candidate gene
    Marker
    Therapy target
  • renal injury is completely reversed in Cfh(-/-) mice, affected with Membranoproliferative glomerulonephritis, pretreated with an anti-murine C5 antibody
  • ADM/CFH is a novel therapy target for safe and effective therapy of patients with hemorrhagic shock, sepsis, and ischemic injury
  • ANIMAL & CELL MODELS
  • mice deficient in complement factor H develop membranoproliferative glomerulonephritis
  • cfh(-/-) MICE exhibit significantly reduced visual acuity and rod response amplitudes on electroretinography, an increase in autofluorescent subretinal deposits, an accumulation of complement C3 in the neural retina and a thinning of Bruch's membrane