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FLASH GENE
Symbol HYAL1 contributors: mct/npt - updated : 10-06-2009
HGNC name hyaluronoglucosaminidase 1
HGNC id 5320
Corresponding disease
MPS9 mucopolysaccharidosis type IX
Location 3p21.31      Physical location : 50.337.320 - 50.349.812
Synonym name
  • tumor suppressor LUCA-1
  • plasma hyaluronidase
  • hyaluronidase 1
  • Synonym symbol(s) LUCA1, NAT6, HYAL-1, MGC45987, FUS2
    EC.number 3.2.1.35
    DNA
    TYPE functioning gene
    SPECIAL FEATURE component of a cluster
    text clustered with HYAL2 and HYAL3
    STRUCTURE 12.49 kb     4 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked   status confirmed
    Physical map
    RBM5 3p21.3 RNA binding motif protein 5 SEMA3F 3p21.31 sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F GNAT1 3p21.2 guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 1 SLC38A3 3p21.3 solute carrier family 38, member 3 GNAI2 3p21.31 guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 2 SEMA3B 3p21.3 sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3B FLJ38608 3p21.31 hypothetical protein FLJ38608 IFRD2 3p21.3 interferon-related developmental regulator 2 HYAL3 3p21.3 hyaluronoglucosaminidase 3 FUS2 3p21.3 putative tumor suppressor HYAL1 3p21.3 hyaluronoglucosaminidase 1 HYAL2 3p21.3 hyaluronoglucosaminidase 2 PDAP2 3p21.3 PDGFA associated protein 2 RASSF1 3p21.3 Ras association (RalGDS/AF-6) domain family 1 ZMYND10 3p21.3 zinc finger, MYND domain containing 10 NPR2L 101F6 3p21.3 putative tumor suppressor 101F6 PL6 3p21.3 placental protein 6 CACNA2D2 3p21.3 calcium channel, voltage-dependent, alpha 2/delta subunit 2
    RNA
    TRANSCRIPTS type messenger
    text the same protein is produced by both variants
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    3 splicing 2518 48.3 435 - Frost, Franzmann, Lokeshwar (2008)
  • lacks a 30-amino acid sequence that is present in HYAL1
  • may negatively regulate bladder tumor growth, infiltration, and angiogenesis (Lokeshwar 2006)
  • 3 splicing 1985 48.3 405 - Frost, Franzmann, Lokeshwar (2008)
    4 splicing 1718 28 253 - Franzmann, Lokeshwar (2008)
    - splicing 1738 23.3 209 - Franzmann
    4 splicing 1300 19.3 176 - Franzmann, Lokeshwar (2008)
    - splicing 1151 10.4 96 - Franzmann
    4 splicing 2075 - 435 - Franzmann, Lokeshwar (2008)
    6 splicing 2370 48.3 435 - Franzmann, Lokeshwar (2008)
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart   highly
    Digestivestomach    
    Endocrineadrenal gland    
     pancreas    
    Lymphoid/Immunespleen   highly
    Reproductivefemale systemuteruscervix highly
    Urinarykidney   highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscularstriatumskeletal  
    cell lineage
    cell lines
    fluid/secretion plasma
    at STAGE
    physiological period embryo
    Text kidney and somatic tissues
    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