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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
    Physical map
    ZNF515 9p24.2 zinc finger protein 515 C9orf70 9p24.2 chromosome 9 open reading frame 70 SLC1A1 9p24 solute carrier family 1 (neuronal/epithelial high affinity glutamate transporter, system Xag), member 1 C9orf68 9p24.2 chromosome 9 open reading frame 68 HARC 9p24.1 chromosome 9 open reading frame 68 AK3L1 9p24.1-p24.3 adenylate kinase 3 like 1 LOC392282 9 similar to ribosomal protein S5 RCL1 9p24.1-p23 RNA terminal phosphate cyclase-like 1 JAK2 9p24 Janus kinase 2 (a protein tyrosine kinase) INSL6 9p24 insulin-like 6 INSL4 9p24.1-p23.3 insulin-like 4 (placenta) RLN2 9pter-q12 relaxin 2 (H2) RLN1 9pter-q12 relaxin 1 (H1) C9orf46 9p24.1 chromosome 9 open reading frame 46 PDCD1LG1 9p24 programmed cell death 1 ligand 1 PDCD1LG2 9p24.2 programmed cell death 1 ligand 2 KIAA1432 9p24.1 KIAA1432 KIAA1815 9p24 KIAA1815 MLANA 9p24.1 melan-A KIAA2026 9p24.1 KIAA2026 RANBP6 12p13.31 RAN binding protein 6 C9orf26 9p24.1 chromosome 9 open reading frame 26 (NF-HEV) LOC389704 9 similar to Selenoprotein T NYD-SP25 9p24.1 protein kinase NYD-SP25 NIRF 9p24.1 Np95-like ring finger protein C9orf38 9p24.1 chromosome 9 open reading frame 38 GLDC 9p24-p23 glycine dehydrogenase (decarboxylating; glycine decarboxylase, glycine cleavage system protein P) LOC392283 9 similar to ribosomal protein S3a; 40S ribosomal protein S3a; v-fos transformation effector protein 1 LOC392284 9 hypothetical gene supported by AK091574 GASC1 9p24-p23 hypothetical gene supported by AK091574 LOC158352 9p24.1 similar to small nuclear ribonucleoprotein E LOC158345 9p24.1 similar to ribosomal protein L4; 60S ribosomal protein L4; homologue of Xenopus ribosomal protein L1 LOC392285 9 similar to peptidyl-Pro cis trans isomerase MGC4730 9p24.1 similar to RIKEN cDNA 3110001D03 gene (M. musculus)
    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