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FLASH GENE
Symbol VWA1 contributors: mct - updated : 30-11-2010
HGNC name von Willebrand factor A domain containing 1
HGNC id 30910
DNA
TYPE functioning gene
STRUCTURE 8.03 kb     3 Exon(s)
MAPPING cloned Y linked N status provisional
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
3 - 4659 46.8 445 - 2002 12062410
3 - 4264 24.5 64 - 2002 12062410
EXPRESSION
Type widely
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Cardiovascularvesselcapillary    Homo sapiens
Endocrinepancreas   highly
Hearing/Equilibriumearinnervestibule highly Homo sapiens
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Connectivecartilage  specific
Nervousperipherous    Homo sapiens
cells
SystemCellPubmedSpeciesStageRna symbol
Cardiovascularendothelial cell Homo sapiens
Hearing / Equilibriumhair cell receptor Homo sapiens
not specificchondrocyte
cell lineage
cell lines
fluid/secretion
at STAGE
Text also expressed in the apical ectodermal ridge of developing limb buds, and in skeletal and cardiac muscle
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a signal sequence
  • a VA-like domain
  • two fibronectin type III-like repeats, and a short proline- and arginine-rich segment
  • conjugated GlycoP
    HOMOLOGY
    Homologene
    FAMILY
  • von Willebrand factor A-domain superfamily of extracellular matrix proteins
  • CATEGORY
    SUBCELLULAR LOCALIZATION extracellular
    text
  • predominantly in chondrocytes
  • specific for the chondrocyte pericellular microenvironment and co-localizes with perlecan, a prominent component of the chondrocyte pericellular region
  • expressed in the vasculature of neural tissues and in basement membrane structures of the peripheral nervous system
  • basic FUNCTION
  • multimeric multidomain glycoprotein secreted into the blood from vascular endothelial cells, initiating platelet adhesion at sites of vascular injury
  • may play a role in cartilage structure and function
  • component of the chondrocyte pericellular matrix in articular cartilage and intervertebral disc, where it interacts with the basement membrane heparan sulfate proteoglycan perlecan
  • may have an important function in stabilizing the association of the collagenous interstitial matrix with the Schwann cell basement membrane
  • has critical roles in the structure and function of peripheral nerves
  • may be having an important role in maintaining the blood-brain barrier
  • its localization in the inner ear vasculature suggests an important role in maintaining its integrity
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • component of a limited range of specialized basement membranes provides further evidence for the heterogeneous composition of basement membranes between different tissues
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacts with domain III-2 of the perlecan core protein and the heparan sulfate chains of the perlecan domain I (contribute to the assembly and/or maintenance of "permanent" cartilage structures during development and in mature cartilages)
  • interacts with perlecan, and binds type VI collagen, suggesting a function in bridging connective tissue structures
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
    WARP-null mice exhibited a significantly delayed response to acute painful stimulus and impaired fine motor coordination, although general motor function was not affected, suggesting compromised peripheral nerve function