Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Orphanet Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol TYR contributors: SGE/npt - updated : 15-04-2015
HGNC name tyrosinase (oculocutaneous albinism IA)
HGNC id 12442
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