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FLASH GENE
Symbol MAGEA1 contributors: mct/npt - updated : 09-12-2009
HGNC name melanoma antigen family A, 1 (directs expression of antigen MZ2-E)
HGNC id 6796
Location Xq28      Physical location : 152.481.521 - 152.486.116
Synonym name
  • protein recognized by autologous cytotoxic T lymphocytes
  • melanoma-associated antigen MZ2-E
  • melanoma antigen MAGE-1
  • cancer/testis antigen family 1, member 1
  • Synonym symbol(s) MAGE1, MGC9326, CT1.1
    DNA
    TYPE functioning gene
    SPECIAL FEATURE component of a cluster
    STRUCTURE 4.59 kb     3 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status confirmed
    Physical map
    GABRQ Xq28 gamma-aminobutyric acid (GABA) receptor, theta TRAG3 Xq28 taxol resistance associated gene 3 MAGEA2b Xq28 melanoma antigen, family A, 2, copy b MAGEA12 Xq28 melanoma antigen, family A, 12 CSAGE Xq28 chondrosarcoma associated gene 1 MAGEA2 Xq28 melanoma antigen, family A, 2 LOC389903 X similar to Taxol resistant associated protein 3 (TRAG-3) MAGEA3 Xq28 melanoma antigen, family A, 3 MAGEA6 Xq28 melanoma antigen, family A, 6 psMAGEA Xq28 melanoma antigen pseudogene, family A CETN2 Xq28 centrin, EF-hand protein, 2 H105E3 Xq28 centrin, EF-hand protein, 2 ZNF185 Xq28 zinc finger protein 185 (LIM domain) PNMA5 Xq28 paraneoplastic antigen like 5 PNMA3 Xq28 paraneoplastic antigen MA3 MGC15827 Xq28 hypothetical protein MGC15827 MAGEA1 Xq28 melanoma antigen, family A, 1 (directs expression of antigen MZ2-E) LOC139046 Xq28 similar to hypothetical protein MGC15827 ZNF275 Xq28 zinc finger protein 275 LOC392559 X similar to hypothetical protein MGC15827 LOC139735 Xq28 similar to zinc finger protein 92 TREX2 Xq28 three prime repair exonuclease 2 LOC389904 X similar to Extracellular matrix protein 2 precursor (Matrix glycoprotein SC1/ECM2) BGN Xq28 biglycan ATP2B3 Xq28 ATPase, Ca++ transporting, plasma membrane 3 MGC29729 Xq28 hypothetical protein MGC29729 LOC340598 Xq28 similar to Keratin, type I cytoskeletal 18 (Cytokeratin 18) (K18) (CK 18) DUSP9 Xq28 dual specificity phosphatase 9 LOC347544 Xq28 similar to ribosomal protein L18a; 60S ribosomal protein L18a
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    3 - 1755 - 309 - Takahashi (1995)
    EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Reproductivefemale systembreastmammary gland moderately
     female systemovary  lowly
     male systemtestis  highly
    Respiratorylung   moderately
    Skin/Tegumentskin   moderately
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connectivebone   
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Reproductivespermatocyte
    Reproductivespermatogonia
    cell lineage
    cell lines myeloma cell lines
    fluid/secretion
    at STAGE
    Text in oocytes, its expression terminated around birth (Gjerstorff 2007)
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a MAGE domain
  • HOMOLOGY
    Homologene
    FAMILY
  • melanoma antigen, family A
  • CATEGORY antigen
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm
    intracellular,nucleus
    text identified in the nucleus and cytoplasm of spermatogonia and in primary spermatocytes but not in spermatids or Sertoli cells (Takahashi 1995)
    basic FUNCTION
  • directing expression of antigen MZ2-E
  • normal tissue antigen compartmmentalized in particular testicular cells playing an important role in the early phase of the spermatogenesis (Takahashi 1995)
  • may play a role in embryonal development and tumor transformation or aspects of tumor progression
  • inhibiting the activity of a SKIP-interacting transactivator
  • can act as a potent transcriptional repressor
  • participating in the setting of specific gene expression patterns for tumor cell growth or spermatogenesis
  • with CTAG1B, are associated with highly proliferating germ cells (Gjerstorff 2007)
  • CELLULAR PROCESS nucleotide, transcription, regulation
    PHYSIOLOGICAL PROCESS development , immunity/defense
    text recognized on a melanoma by autologous cytolytic T lymphocytes
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • binding to SKIP and by recruiting HDACs, MAGE-A1 can act as a potent transcriptional repressor
  • cell & other
    REGULATION
    activated by MBD2 (up-regulate the basal activity of the promoter of MAGE proteins) (Wischniewski 2007)
    repressed by the TRD of MBD1 and MECP2 (Wischnewski 2007)
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --over  
    in primary breast tumor in progression, and in hepatocellular carcinoma
    tumoral     --other  
    dysregulation of expression in hematological malignanciesnot determined solely by the methylation status of the promoter region (in multiple myeloma)
    tumoral     --over  
    by promoter hypomethylation up-regulates its expression in colorectal carcinomas as well as in gastric cancers and might play a significant role in the development and progression of colorectal carcinomas (Kim 2006)
    tumoral     --other  
    MAGEA1 expression is associated with good prognosis in neuroblastoma (Grau 2009)
    Susceptibility
    Variant & Polymorphism
    Candidate gene aberrant methylation patterns of MAGEs CpG islands using methylation-special PCRs may be useful for diagnosis of hepatocellular carcinoma
    Marker
    Therapy target
    ANIMAL & CELL MODELS