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FLASH GENE
Symbol TYRP1 contributors: mct/npt - updated : 07-10-2017
HGNC name tyrosinase-related protein 1
HGNC id 12450
Corresponding disease
OCA3 oculocutaneous albinism, type 3
Location 9p23      Physical location : 12.693.385 - 12.710.265
Synonym name
  • melanosomal protein (gp75)
  • catalase B
  • melanoma antigen gp75
  • DHICA oxidase
    • Synonym symbol(s) CAS2, TYRP, GP75, CATB, TRP, b-PROTEIN, TRP-1
    EC.number 1.14.18.-
    DNA
    TYPE functioning gene
    STRUCTURE 16.88 kb     8 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked   status confirmed
    Map pter - D9S1810 - D9S1027E - RLN1 - D9S1852 - D9S324 ,D9S1049E - D9S281 - D9S286 - D9S749 - D9S144 - D9S775 - D9S168 - D9S256 - D9S269 - D9S1217 - TYRP1 - D9S267 ,D9S1687 ,D9S1039E - D9S268 ,D9S254 - D9S770 - D9S274 - D9S1222 - D9S1211 - TLN1 ,D9S1213 ,D9S1216 ,D9S285 - D9S156 - D9S1218 - D9S157 - D9S1684 - cen
    Authors Bouzyk (97)
    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
  • TYRP1 and DCT, exhibit specific expression in melanocytes, while also contributing to melanin synthesis within melanosomes
  • 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
  • TYRP1 and DCT, modulate TYR activity and stabilize the TYR protein
    • 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
    cancereye 
    potential use of TYRP1 in the development of therapy for Uveal melanoma (UM)
    ANIMAL & CELL MODELS