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FLASH GENE
Symbol FLVCR1 contributors: mct/npt/pgu - updated : 10-03-2010
HGNC name feline leukemia virus subgroup C cellular receptor 1
HGNC id 24682
PROTEIN
PHYSICAL PROPERTIES Hydrophobic
STRUCTURE
motifs/domains
  • twelve membrane spanning domains
  • one CRIB domain
  • one WH1 domain
  • two WH2 domains
  • six presumptive extracellular loops (ECLs 1 and 6 as critical for mediating FeLV-C infection)
    • HOMOLOGY
    interspecies homolog to feline Lvcr
    intraspecies homolog to FLVCR2 (52 p100)
    Homologene
    FAMILY
  • major facilitator superfamily
  • feline leukemia virus subgroup C receptor family
    • CATEGORY transport carrier
    SUBCELLULAR LOCALIZATION     plasma membrane
    basic FUNCTION
  • regulating actin polymerization by stimulating the actin- nucleating activity of the actin-related protein ACTR2/ACTR3 complex
  • exporting cytoplasmic heme and may be required on developing erythroid cells to protect them from heme toxicity
  • critical role for early erythropoiesis
  • mediates heme export from macrophages that ingest senescent red cells and regulates hepatic iron
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) AXPC1
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional       loss of function
    enhanced alternative splicing of FLVCR1 transcripts and subsequent FLVCR1 insufficiency is an additional contributing factor to the erythropoietic defect observed in Diamond-Blackfan anemia
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • FLVCR1 null mice, despite dying in utero and having reduced myeloid and lymphoid cell growth, show a disruption in early erythropoiesis and have craniofacial and limb deformities similar to those found in some Diamond-Blackfan anemia patient