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FLASH GENE
Symbol TYRP1 contributors: mct/npt - updated : 07-10-2017
HGNC name tyrosinase-related protein 1
HGNC id 12450
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
8 - 2876 - 537 - 2001 11602344
EXPRESSION
Type restricted
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Cardiovascularheart    
Hearing/Equilibriumear    
Skin/Tegumentskin    
Visualeye    
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • internal disulfide bonds
  • conjugated GlycoP
    HOMOLOGY
    interspecies homolog to murine brown locus
    intraspecies homolog to tyrosinase protein 1
    Homologene
    FAMILY
  • tyrosinase family
  • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endosome
    basic FUNCTION
  • involved in melanogenesis
  • 5,6-dihydroxyindole-2-carboxylic acid (DHICA) oxidase
  • is relevant to both autoimmune skin depigmentation (vitiligo) and tumor immunity, because it is expressed by both benign melanocytes and many malignant melanomas
  • melanosomal protein involved in the pigmentary machinery of the melanocyte and often used as differentiation marker, with a special emphasis on its emerging roles in the malignant melanocyte and melanoma progression
  • melanosomal enzyme playing a role in the eumelanin pathway
  • is involved in modulation of pigment production in response to stressors
  • is involved in maintaining the stability of tyrosinase protein and modulating its catalytic activity in eumelanin synthesis
  • is also involved in maintenance of melanosome structure and affects melanocyte proliferation and cell death
  • role for VAMP7 in pigmentation by trafficking melanosomal cargoes such as TYRP1 from endosomes to maturing melanosomes
  • VAMP7 and TYRP1 traffic to melanosomes in BLOC1S1–dependent membrane tubules
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling sensory transduction/vision
    a component
  • phosphorylation of tyrosinase by PKC-beta (PRKCB) induces a complex formation between tyrosinase and TYRP1
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • IFI30 is required for negative selection of TYRP1-specific thymocytes
  • direct and indirect regulatory control of TYRP1 and other pigmentation and mesenchymal genes by MYO5A
  • in melanoma cells both CRH and UCN regulate TYRP1 gene expression via NR4A2/NR4A1 production, independent of pro-opiomelanocortin or alpha-melanocyte-stimulating hormone stimulation
  • SNARE machinery composed of VAMP7 on TYRP1-containing vesicles and STX3 and SNAP23 on melanosomes regulates TYRP1 trafficking to the melanosome in melanocytes
  • LGALS3 is a regulatory component in melanin synthesis affecting the expression of TYRP1
  • suppression of VPS35 led to mistrafficking of the melanogenic enzymes, tyrosinase and TYRP1, establishing that retromer acts in concert with ANKRD27 in this trafficking pathway
  • cell & other
    REGULATION
    activated by MITF (stimulates melanin synthesis by up-regulating expression of TYRP1)
    Other regulated by ANKRD27·RAB32/38 complex which regulates the transport of TYRP1 to melanosomes
    ASSOCIATED DISORDERS
    corresponding disease(s) OCA3
    related resource Albinism Database
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --other  
    melanocytes in vitiligo have reduced ability to withstand oxidative stress due, partly, to a disruption in MITF regulation of TYRP1
    Susceptibility to cutaneous melanoma (CM)
    Variant & Polymorphism other haplotype increasing the risk of cutaneous melanoma (CM)
    Candidate gene
    Marker
  • prognostic marker for melanoma, and is particularly useful when prognostic pathology parameters at the primary lesion are lacking
  • Therapy target
    SystemTypeDisorderPubmed
    cancerskin 
    its conserved expression further supports TYRP1 use as a target for therapy
    ANIMAL & CELL MODELS