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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
    Physical map
    TRSPP1 22q11 tRNA phosphoserine (opal suppressor) pseudogene 1 PARVG 22q13.2-q13 parvin, gamma LOC388909 22 LOC388909 MRPS18CP6 22q13.31 mitochondrial ribosomal protein S18C pseudogene 6 DKFZp761O17121 22q13.31 hypothetical protein DKFZp761O17121 LOC129186 22q13.31 similar to Keratin, type I cytoskeletal 18 (Cytokeratin 18) (K18) (CK 18) LOC388910 22 LOC388910 ARHGAP8 22q13.31 Rho GTPase activating protein 8 LOC112885 22q13.31 hypothetical protein BC012187 NUP50 22q13.31 nucleoporin 50kDa KIAA0930 22q13.31 nucleoporin 50kDa UPK3A 22q13.31 uroplakin 3A FLJ20635 22q13 hypothetical protein FLJ20635 SMC1L2 22q13.31 SMC1 structural maintenance of chromosomes 1-like 2 (yeast) DKFZP566F0546 22q13.31 DKFZP566F0546 protein FBLN1 22q13.31 fibulin 1 LOC388911 22 LOC388911 E46L 22q13.31 LOC388911 LOC388912 22 LOC388912 FLJ10945 22q13.31 hypothetical protein FLJ10945 LOC388913 22 similar to seroreactive antigen BMN1-2 LOC150381 22q13.31 hypothetical protein LOC150381 PPARA 22q13.3 peroxisome proliferative activated receptor, alpha MGC2452 22q13.31 hypothetical protein MGC2452 LOC150383 22q13.31 similar to RIKEN cDNA 2210021J22 PKDREJ 22q13.32 polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly homolog, sea urchin)-like FLJ20699 22q13 hypothetical protein FLJ20699 GTSE1 22q13.2-q13.3 G-2 and S-phase expressed 1 FLJ10140 22q13 hypothetical protein FLJ10140 CELSR1 22q13.32 cadherin, EGF LAG seven-pass G-type receptor 1 (flamingo homolog, Drosophila) KIAA0767 22q13.31 cadherin, EGF LAG seven-pass G-type receptor 1 (flamingo homolog, Drosophila) CERK 22q13.31 ceramide kinase C22orf4 22q13.3 chromosome 22 open reading frame 4 LOC391338 22 similar to 60S ribosomal protein L10 (QM protein homolog) LOC388914 22 LOC388914 LOC284931 22q13.32 hypothetical LOC284931 LOC388915 22 LOC388915 LOC388916 22 LOC388916
    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