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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
Location 22q13.31      Physical location : 46.756.730 - 46.933.067
Synonym name
  • protocadherin flamingo 2
  • neural specific receptor
    • Synonym symbol(s) ME2, FMI2, CDHF9, HFMI2, DKFZp434P0729
    DNA
    TYPE functioning gene
    STRUCTURE 176.34 kb     35 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    text structure two large exons for the ecto domain
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    35 - 11389 329.5 3014 - 1999 10380929
    EXPRESSION
    Type
    constitutive of
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveintestinelarge intestine   
    Nervousbrain    
    Reproductivefemale systembreast   
    Respiratorylung    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Nervouscentral   
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period embryo
    Text early embryogenesis
    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