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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
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