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FLASH GENE
Symbol HAPLN1 contributors: mct/npt - updated : 19-01-2010
HGNC name hyaluronan and proteoglycan link protein 1
HGNC id 2380
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • an immunoglobulin like-V-type
  • two link domains
  • a SP-IgV domain increasing tumorigenic properties of mesothelioma (Ivanova 2009)
    • HOMOLOGY
    interspecies homolog to murine Crtl1
    Homologene
    FAMILY
  • HAPLN family
    • CATEGORY structural protein
    SUBCELLULAR LOCALIZATION extracellular
    text enhancer elements may mediate differential expression during chondrocyte differentiation and maturation
    basic FUNCTION
  • stabilization of the aggregates of aggrecan and hyaluroman with hyaluronic acid in the extracellular cartilage matrix
  • playing a role in the organization of extracellular matrix in a number of tissues, possibly interacting with other proteoglycans, such as versican, brevican, and neurocan
  • stabilizes the interaction between hyaluronan (HA) and versican, two extracellular matrix components essential for cardiac development (Wirrig 2007)
  • may play an important role in heart development (Wirrig 2007)
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS development
    text bone development and maintenance
    PATHWAY
    metabolism
    signaling
    a component
  • extracellular matrix compoment
    • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacting with the G1-domains of aggrecan in the absence or presence of Hyaluronan (Seyfried 2005)
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --low  
    in the majority of mesotheliomas (Ivanova 2009)
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target targeting the SP-IgV domain may be one of the therapeutic approaches in mesothelioma treatment (Ivanova 2009)
    ANIMAL & CELL MODELS
    Crtl1-deficient mouse revealed a spectrum of cardiac malformations, including AV septal and myocardial defects, while expression studies showed a significant reduction in versican levels (Wirrig 2007)