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FLASH GENE
Symbol CELSR1 contributors: mct/pgu - updated : 17-09-2010
HGNC name cadherin, EGF LAG seven-pass G-type receptor 1 (flamingo homolog, Drosophila)
HGNC id 1850
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a N terminus,a block of cadherin repeats followed by seven EGF-like repeats,interrupted by two laminin AG type repeats
  • seven transmembrane segments (7TM)
    • HOMOLOGY
    Homologene
    FAMILY
  • G-protein coupled receptor 2 family
  • atypical cadherin, protocadherin family
  • LN-TM7 subfamily
    • CATEGORY adhesion , receptor membrane G
    SUBCELLULAR LOCALIZATION     plasma membrane
    basic FUNCTION
  • involved in contact-mediated communication, with cadherin domains acting as homophilic binding regions and the EGF-like domains involved in cell adhesion and receptor-ligand interactions
  • helps to specify the direction of facial branchiomotor neurons migration
  • required for lung epithelial tube formation
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS development
    PATHWAY
    metabolism
    signaling
    planar cell polarity signaling pathway
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • homotypic intracellular interactions of CELSR1 are required to recruit VANGL2 and FZD6 to sites of cell-cell contact
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional   deletion    
    in the 22qter-syndrome
    Susceptibility
  • to ischemic stroke
  • to craniorachischisis (CRN)
    • Variant & Polymorphism SNP , other
  • rs6007897 (A-->G, Thr2268Ala) and rs4044210 (A-->G, Ile2107Val)rs6007897 (A-->G, Thr2268Ala) and rs4044210 (A-->G, Ile2107Val) were significantly associated with ischemic stroke
  • missense variants in CELSR1 may represent a cause of CRN
    • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS