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FLASH GENE
Symbol TYR contributors: SGE/npt - updated : 15-04-2015
HGNC name tyrosinase (oculocutaneous albinism IA)
HGNC id 12442
Corresponding disease
OCA1 oculocutaneous albinism, type 1A
OCA1B oculocutaneous albinism, type 1B
Location 11q14.3      Physical location : 88.911.039 - 89.028.926
Synonym name
  • monophenol monooxygenase
  • tumor rejection antigen AB
    • Synonym symbol(s) OCAIA, SHEP3, LB24-AB, SK29-AB
    EC.number 1.14.18.1
    DNA
    TYPE functioning gene
    STRUCTURE 117.89 kb     5 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked Y status confirmed
    Map cen - D11S1354 - D11S4082 - D11S1887 - D11S1780 - D11S1367 - TYR - D11S931 - D11S1342 - D11S1358 - qter
    Authors Coupry (01)
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    5 - 2082 - 529 - Kwon (1987)
    EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Reproductivefemale systembreastmammary gland moderately
    Skin/Tegumentskin   specific
    Urinarybladder   moderately
    Visualeye   moderately
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Blood / hematopoieticbone marrow   
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Skin/Tegumentmelanocyte
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • two copper-binding sites
    • conjugated GlycoP
    HOMOLOGY
    interspecies homolog to rattus Tyr (87.3pc)
    homolog to murine Tyr (86.4pc)
    Homologene
    FAMILY
  • tyrosinase family
    • CATEGORY enzyme , antigen
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,Golgi
    text
  • golgi vesicle
  • melanosome membrane
    • basic FUNCTION
  • copper dependent, copper-containing oxidase functioning in the formation of pigments such as melanins and other polyphenolic compounds
  • catalyzing the rate-limiting conversions of tyrosine to dopa, dopa to dopa-quinone and possibly 5,6-dihydroxyindole to indole-5,6 quinone
  • acting as a tumor antigen
  • catalyses the initial steps of melanin biosynthesis within melanosomes
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism other
    signaling sensory transduction/hearing , sensory transduction/vision
    eye pigment biosynthesis, melanin biosynthesis from tyrosine
    a component
    INTERACTION
    DNA
    RNA
    small molecule metal binding,
  • Cu2+ (2 ions per subunit)
    • protein
  • interacting with ATP7A (required to supply copper to tyrosinase in melanosomes)
  • LEF1 overexpression increased TYR gene promoter activity, whereas LEF1 knockdown by RNA interference significantly decreased TYR expression
    • cell & other
    REGULATION
    activated by TP53 (TP53-mediated adaptive response of skin to DNA damage from UV-irradiation )
    induced by ultraviolet irradiation (UV)
    DNA-damaging agents and DNA fragments such as thymidine dinucleotides
    ASSOCIATED DISORDERS
    corresponding disease(s) OCA1 , OCA1B
    related resource Albinism Database
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional germinal mutation      
    TYR(R402Q) allele, a functionally significant polymorphism associated or not with deletion in exon 8 of the MITF, leading to moderately reduced tyrosinase catalytic activity in Waardenburg syndrome type 2 (WS2) and autosomal recessive ocular albinism
    Susceptibility
    Variant & Polymorphism SNP
  • associated to frequent freeckles and sun sensitivity
  • ARG402GLN variant is associated with skin color and tanning ability, and squamous cell carcinoma risk (Nan 2009)
    • Candidate gene
    Marker
    Therapy target
  • prenatal molecular diagnosis of OCA (Rosenmann 2009)
  • TYR siRNA may provide a novel strategy for the control of cell pigmentation (An 2009)
    • ANIMAL & CELL MODELS