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FLASH GENE
Symbol VCL contributors: mct/npt/shn - updated : 22-12-2012
HGNC name vinculin
HGNC id 12665
Corresponding disease
CMD1W cardiomyopathy, dilated 1W
Location 10q22.2      Physical location : 75.757.871 - 75.879.912
Synonym name metavinculin
Synonym symbol(s) RP11-178G16.3, CMD1W, CMH15, MVCL
DNA
TYPE functioning gene
STRUCTURE 122.04 kb     22 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status confirmed
Map cen - D10S188 - D10S1737 - VCL - D10S535 - D10S556 - qter
Physical map
C10orf29 MYOZ1 10q22.1 myozenin 1 SYNPO2L 10q22.3 synaptopodin 2-like LOC118704 10q22.3 similar to ARF GTPase-activating protein LOC389978 10 similar to Ribosome biogenesis protein BMS1 homolog GLUDP3 10q22.1 glutamate dehydrogenase pseudogene 3 SEC24C 10q22.3 SEC24 related gene family, member C (S. cerevisiae) FUT11 10q22.3 fucosyltransferase 11 (alpha (1,3) fucosyltransferase) LOC118487 10q22.3 similar to RIKEN cDNA 1110001O19 LOC196752 10q22.3 similar to CG32542-PA KIAA0913 10q22.3 KIAA0913 protein NDST2 10q22 N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 2 CAMK2G 10q22.3 calcium/calmodulin-dependent protein kinase (CaM kinase) II gamma PLAU 10q23.3-q24.3 plasminogen activator, urokinase VCL 10q22.1-q23 vinculin AP3M1 10q22.3 adaptor-related protein complex 3, mu 1 subunit ADK 10q22.3 adenosine kinase MRPL35P3 10q22.2 adenosine kinase
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
21 splicing 5443 - 1066 platelets Weller, Palmer (2009)
the major talin-binding protein in platelets
22 splicing 5443 123.7 1134 muscle-specific isoform Weller, Vasile, Palmer (2009)
  • playing a substantive role in the structural integrity of the heart cytoarchitecture
  • an additional 68 amino-acids based on alternative splicing of exon 19
  • EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestivemouthtongue  highly
    Hearing/Equilibriumear   highly
    Respiratoryrespiratory tracttrachea  highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connectiveadipose   
    Connectivebone   
    cells
    SystemCellPubmedSpeciesStageRna symbol
     fibroblast
    Blood/Hematopoieticplatelet
    skin tegument 
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • three Vc repeats of about 130 AAs
  • a lipid-regulated docking site at the C terminus for protein kinase C
  • a globular head domain with 7 helical bundles organized into 3 tandem pairs of bundles (D1-D3) and one unpaired bundle (D4) (Palmer 2009)
  • vinculin tail responsible for the functional link of focal adhesions to the actin cytoskeleton (Humphries 2007)
  • a tail domain (Vt) binding to acidic phospholipids and playing a role in vinculin activation and focal adhesion turnover (Palmer 2009)
  • HOMOLOGY
    interspecies ortholog to Vcl, Mus musculus
    ortholog to Vcl, Rattus norvegicus
    ortholog to VCL, Pan troglodytes
    Homologene
    FAMILY
  • vinculin/alpha-catenin family
  • CATEGORY adhesion
    SUBCELLULAR LOCALIZATION     plasma membrane,junction
        intracellular
    intracellular,cytoplasm,cytoskeleton
    text
  • located at the cytoplasmic side of adhesion plaques (focal contact)
  • co-localizing with metaVCL to intercalated disc and costameres
  • cytoskeletal protein (Palmer 2009)
  • basic FUNCTION
  • anchoring F actin to the plasma membrane
  • alphaE-catenin-vinculin interaction plays a role in the assembly of the apical junctional complex in epithelia
  • important in regulating adhesion dynamics and cell migration
  • controls focal adhesion formation by direct interactions with talin and actin (Humphries 2007)
  • involved in tightening of epithelial apical junctions during their maturation
  • plays an important role in cell adhesion and migration through interaction between vinculin and lipid membranes (Diez 2008)
  • involved in linking the actin cytoskeleton to the cell membrane at sites of cellular adhesion (Palmer 2009)
  • plays a role in physiological processes such as cell motility, migration, development, and wound healing (Palmer 2009)
  • facilitates phospholipid membrane insertion
  • protect junctions against overinduced opening by thrombin in remodeling focal adherens junctions
  • needed during active phases of junction remodeling by cytoskeletal force to protect junctions from opening
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    text an essential regulator of both cell-cell (cadherin-mediated) and cell-matrix (integrin-talin-mediated focal adhesions) junctions
    PATHWAY
    metabolism
    signaling
    a component
  • constituent of a complex with alpha-actinin and talin at the adherens type of cell junction
  • INTERACTION
    DNA
    RNA
    small molecule other,
  • soluble and membranous phospholipids
  • protein
  • paxillin, PXN
  • F-actin
  • clathrin heavy chain, CHC
  • focal adhesion kinase, FAK
  • E-cadherin
  • alphaE-catenin
  • REF52
  • clipin C, ClipinC
  • vasodilator-stimulated phosphoprotein, VASP
  • polycystin-1, PKD1
  • ribonucleoprotein, PTB-binding 1, RAVER1
  • lipid-dependent protein kinase Calpha
  • talin, TLN
  • Alpha-actinin
  • actin, talin, alpha-actinin, alpha-catenin, beta-catenin, vinexin, ponsin (Palmer 2009)
  • cell & other
  • endothelial VE-cadherin junctions
  • REGULATION
    Other phosphorylated by SRC kinases
    ASSOCIATED DISORDERS
    corresponding disease(s) CMD1W
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --low  
    associated with human cardiomyopathy (Palmer 2009)
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • vinculin null embryos were small, abnormal, lack of midline fusion of the rostral neural tube, producing a cranial bilobular appearance and attenuation of cranial and spinal nerve development and have heart development defects