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FLASH GENE
Symbol ITIH5 contributors: mct/npt - updated : 18-11-2009
HGNC name inter-alpha (globulin) inhibitor H5
HGNC id 21449
Location 10p14      Physical location : 7.601.232 - 7.708.961
Synonym name
  • inter-alpha trypsin inhibitor heavy chain precursor 5
  • ITI heavy chain H5
  • Synonym symbol(s) pp14776, MGC10848, DKFZp686F0145, KIAA1953
    DNA
    TYPE functioning gene
    STRUCTURE 107.30 kb     14 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    12 - 3105 - 702 - Himmelfarb (2004)
    14 - 6319 - 956 - Himmelfarb (2004)
    10 - 5659 - 742 - Himmelfarb (2004)
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Endocrineplacenta    
    Lymphoid/Immunethymus    
    Reproductivefemale systembreastmammary gland highly
     male systemtestis   
    Skin/Tegumentskin    
    Urinarykidney    
    Visualeye    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Epithelialsecretoryglandularendocrine 
    Nervousperipherous   
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period pregnancy
    Text placenta
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • one VWFA domain
  • HOMOLOGY
    interspecies ortholog to murine Itih5
    Homologene
    FAMILY
  • inter-alpha-trypsin inhibitor (ITI) family
  • CATEGORY regulatory
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    intracellular,nucleus
    text sensors of endoplasmic reticulum (ER) luminal Ca2+ changes and rapidly translocate into near plasma membrane (PM) junctions to activate Ca2+ entry (Wang 2009)
    basic FUNCTION
  • serine-type endopeptidase inhibitor activity
  • contributing to extracellular matrix stability by covalent linkage to hyaluronan (Hamm 2008)
  • candidate class II tumour suppressor gene that could be involved in tumour progression, invasion and metastasis (Veeck 2008)
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    hyaluronan metabolism
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --low  
    promoter methylation-mediated loss of ITIH5 expression is associated with unfavourable outcome in breast cancer patients (Veeck 2008)
    tumoral        
    in invasive ductal carcinoma
    tumoral     --low  
    in multiple solid tumors, including breast, colon and lung cancer (Hamm 2008)
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS