Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol MLANA contributors: mct/npt - updated : 23-02-2010
HGNC name melan-A
HGNC id 7124
Location 9p24.1      Physical location : 5.890.908 - 5.909.822
Synonym name
  • melanoma antigen recognized by T-cells 1
  • premelanosomal protein
  • antigen SK29-AA
  • antigen LB39-AA
  • Synonym symbol(s) MART1, MART-1
    DNA
    TYPE functioning gene
    STRUCTURE 18.91 kb     5 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence Binding site   transcription factor
    text structure MITF binding site
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    5 - 1524 - 118 - Sztramska (2008)
    EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Endocrineadrenal gland    
    Hearing/Equilibriumear    
    Skin/Tegumentskin   highly
    Visualeye    
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Skin/Tegumentmelanocyte
    cell lineage
    cell lines
  • highly in melanoma
  • melanosome from an Achille's tendon clear-cell sarcoma
  • fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a putative transmembrane hydrophobic stretch
  • HOMOLOGY
    Homologene
    FAMILY
    CATEGORY antigen
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    intracellular,cytoplasm,organelle,Golgi
    basic FUNCTION
  • recognized by T-lymphocytes of patients with melanoma
  • required for the function of the melanosomal matrix protein SILV and the maturation of melanosomes
  • integral membrane melanosomal protein that has been shown to form complexes with SILV and has been suggested to control SILV processing and stability (Giordano 2009)
  • similar to GPR143, regulates melanosome maturation and in particular the maintenance of melanosomal identity and composition (Giordano 2009)
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • complex with SILV
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacting with SILV (indispensable for SILV function and thus plays an important role in regulating mammalian pigmentation)
  • interacting with GPR143 early during its biosynthetic pathway acting as an escort protein that helps its stabilization and prevents degradation(Giordano 2009)
  • interacting with SILV (Giordano 2009)
  • cell & other
    REGULATION
    Other transcriptionally regulated by MITF
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --over  
    in primary melanoma with prolonged survival
    tumoral     --low  
    during tumour progression significantly decreases for melanoma cells located in the granular/spinous layer (Sztramska 2008)
    Susceptibility
    Variant & Polymorphism
    Candidate gene
  • new candidate gene for albinism (Giordano 2009)
  • potential target in immunotherapy and may be a prognostic factor in melanoma (Sztramska 2008)
  • Marker
    Therapy target
    ANIMAL & CELL MODELS