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FLASH GENE
Symbol VANGL1 contributors: mct/npt - updated : 03-04-2015
HGNC name vang-like 1 (van gogh, Drosophila)
HGNC id 15512
Location 1p13.2      Physical location : 116.184.573 - 116.240.845
Synonym name
  • kitenin
  • strabismus 2
  • Van Gogh-like protein 1
  • loop-tail protein 2
  • loop-tail protein 2 homolog
  • KAI1 COOH-terminal interacting tetraspanin
    • Synonym symbol(s) STB2, MGC5338, LPP2, STBM2, KITENIN
    DNA
    TYPE functioning gene
    SPECIAL FEATURE component of a cluster, tail to tail
    text clustered tail to tail with CASQ2
    STRUCTURE 56.27 kb     8 Exon(s)
    Genomic sequence alignment details
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    8 - 8691 - 524 - 2002 12011995
    8 - 8685 - 522 - 2002 12011995
    8 - 8635 - 524 - 2002 12011995
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveintestinelarge intestinecolon highly
    Nervousbrain    
    Reproductivefemale systemovary  specific
     male systemtestis  specific
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • N terminus lacks plasma membrane (PM) targeting determinants, and these are restricted to the C- terminus, including the predicted PDZBM motif at the C-terminus
  • four transmembrane domains
  • C-terminal Ser/Thr-X-Val motif, KAI1(CD82) interacting tetraspanin (KITENIN domain)
    • HOMOLOGY
    interspecies ortholog to xenopus Stbm
    intraspecies homolog to VANGL2
    Homologene
    FAMILY
  • Vang family
    • CATEGORY unknown/unspecified
    SUBCELLULAR LOCALIZATION     plasma membrane
    text
  • integral membrane proteins that assemble into asymmetrically distributed membrane complexes that establish planar cell polarity in epithelial cells and that regulate convergent extension movements during embryogenesis
  • NOS1AP colocalizes with both SCRIB and VANGL1 along cellular protrusions in metastatic breast cancer cells, but does not colocalize with either SCRIB or VANGL1 at cell junctions in normal breast cells
    • basic FUNCTION
  • may serve as a diagnostic marker for hepatocellular carcinoma and as a potential molecular target for development of novel therapeutic drugs
  • participating in the regulation of the tumor formation and metastasis by interacting with CD82, a metastasis suppressor
  • may serve as an effector mediating the intestinal trefoil factor healing response of the intestinal mucosa (Kalabis 2006)
  • functional KITENIN complex acts as an executor with regard to cell motility and thereby controls colorectal cancer cell invasion, which may contribute to promoting metastasis (Kho 2009)
  • VANGL1 and VANGL2 are essential for embryonic development, cell adhesion, migration and polarity
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS development
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacting with CD82
  • induced the expression of the epithelial-mesenchymal transition (EMT) markers (N-cadherin, ZEB1, ZEB2, SNAI1 and SNAI2) as well as the glioma stemness markers (CD133, ALDH1 and EPHB1)
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --over  
    in gastric cancer
    tumoral       gain of function
    in hepatocellular carcinoma
    constitutional germinal mutation      
    in sporadic or familial cases of neural tube defects
    tumoral     --over  
    increased glioma invasiveness and progression, associated with the up-regulation of EMT and stemness markers
    Susceptibility to neural-tube defects (NTDs)
    Variant & Polymorphism other
  • V239I and R274Q asoociated to neural-tube defects (Kibar 2007)
  • significant association between VANGL1 rare genetic variants, especially missense mutations, and NTDs risk
    • Candidate gene
    Marker might serve as a diagnostic marker for hepatocellular carcinoma
    Therapy target
    SystemTypeDisorderPubmed
    cancerdigestivecolon
    targeting of VANGL1 can function as a chemotherapeutic strategy against colon cancer
    cancerdigestiveliver
    potential molecular target for development of novel therapeutic drugs
    ANIMAL & CELL MODELS