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FLASH GENE
Symbol CFHR1 contributors: mct/npt - updated : 11-02-2019
HGNC name complement factor H-related 1
HGNC id 4888
Location 1q31.3      Physical location : 196.788.860 - 196.801.316
Synonym name
  • H factor (complement)-like 1
  • complement factor H-related 1 pseudogene
  • H factor (complement)-like 2
  • Synonym symbol(s) CFHL, CFHL1, FHR1, HFL1, MGC104329, HFL2, H36-1, H36-2, CFHL1P, CFHR1P
    DNA
    TYPE functioning gene
    STRUCTURE 12.46 kb     6 Exon(s)
    MAPPING cloned Y linked N status provisional
    Map cen - CFH - CFHR3 - CFHR1 - CFHR2 - CFHR5 - CR2 CR2 CR2 CR2 - CR1 CR1 - CR1L - qter
    Authors Jozsi(05)
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    6 - 1312 37 330 - Skerka (1991)
    EXPRESSION
    Type restricted
    constitutive of
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart    
    Digestiveliver   highly
    Lymphoid/Immunespleen    
    Respiratoryrespiratory tractlarynx   
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscularstriatumskeletal  
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • five sushi (ccp/scr) domains
  • a signal peptide
  • five short consensus repeats (SCR)
  • four N-glycosylation sites
  • conjugated GlycoP
    mono polymer homomer , dimer
    HOMOLOGY
    Homologene
    FAMILY
    CATEGORY immunity/defense , regulatory
    SUBCELLULAR LOCALIZATION extracellular
    basic FUNCTION
  • involved in complement regulation
  • can associate with lipoproteins and may play a role in lipid metabolism
  • represents a complement regulator that acts downstream of factor H by inhibiting the C5 convertase and the assembly and membrane insertion of the terminal complement complex (TCC)
  • CFHR3 and CFHR1 inhibit C5a generation and complement-mediated chemotaxis of neutrophils
  • inhibits the C5 convertase and the terminal complement pathway
  • may be involved in the regulation of complement during synapse elimination, and were found to be deleted in a Z-RTT (Rett milder Zappella variant) but duplicated in two classic patients
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • CRP is a ligand for CFHR1, suggesting that CFHR1 enhances, rather than inhibits, complement activation
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --low  
    age-down regulated in the frontal cortex
    constitutional   deletion    
    is considered to have a protective effect against age-related macular degeneration (AMD)(
    Susceptibility
  • to age-related macular degeneration
  • to atypical haemolytic uraemic syndrome (aHUS)
  • Variant & Polymorphism insertion/deletion
  • deletion of CFHR1 with deletion of CFHR3, associated with lower risk of age-related macular degeneration
  • high frequency of CFHR1 deletion in aHUS patients is restricted to the subgroups of patients presenting with anti-FH autoantibodies or, to a lesser degree, CFI mutation(CFHR1 deletion plays a secondary role in susceptibility to aHUS) (Dragon-Durey 2009)
  • delta-CFHR3/CFHR1 confers a protective effect against AMD development independent of the sequence variants of factor H
  • Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    immunologyinfectious 
    exogenous CFHR1 provided during plasma exchange therapy may neutralize anti-factor H autoantibodies and help in the treatment of autoimmune atypical hemolytic uremic syndrome
    ANIMAL & CELL MODELS