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FLASH GENE
Symbol HYAL1 contributors: mct/npt - updated : 10-06-2009
HGNC name hyaluronoglucosaminidase 1
HGNC id 5320
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a catalytic domain that adopts a distorted (beta/alpha)8 barrel resembling that of bee venom hyaluronidase
  • a novel, EGF-like domain, characteristic of involvement in protein-protein interactions and regulatory processes (Chao 2007)
  • acetyltransferase (GNAT) and proline-rich domains
  • acidic site and tyrosine residues
  • C-terminal epidermal growth factor-like domain
    • HOMOLOGY
    interspecies homolog to murine Hyal1
    Homologene
    FAMILY
  • glycosyl hydrolase 56 family
    • CATEGORY enzyme , tumor suppressor
    SUBCELLULAR LOCALIZATION extracellular
        intracellular
    intracellular,cytoplasm,organelle,lysosome
    text vacuole
    basic FUNCTION
  • involved in glycosaminoglycan catabolism
  • also involved in cell migration during embryonic development
  • its activity requires active site acidic and tyrosine residues (Zhang 2009)
  • involved in the angiogenic and invasive front of tumors
  • degrade hyaluronic acid, which promotes metastasis and and is an independent prognostic indicator of prostate cancer progression and a biomarker for bladder cancer
  • implicated in cancer proliferation, angiogenesis, and inflammatory diseases (Chao 2007)
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    activated by an acidic pH
    Other epigenetically regulated by the binding of different transcription factors to the methylated and unmethylated HYAL1 promoter (Lokeshwar 2008)
    ASSOCIATED DISORDERS
    corresponding disease(s) MPS9
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --over  
    in bladder and prostate cancer cells (Lokeshwar 2008)
    tumoral       loss of function
    inactivated in head and neck squamous cell carcinomas by aberrant splicing premRNA
    tumoral     --over  
    in advanced stages of bladder cancer (Chao 2007)
    Susceptibility
    Variant & Polymorphism
    Candidate gene marker for cancer diagnosis and a molecular determinant of tumor growth, invasion, and angiogenesis (Lokeswahr 2008)
    Marker
    Therapy target anti-hyaluronidase and high-hyaluronidase treatments for cancer
    ANIMAL & CELL MODELS