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FLASH GENE
Symbol MAGEA1 contributors: mct/npt - updated : 06-04-2020
HGNC name melanoma antigen family A, 1 (directs expression of antigen MZ2-E)
HGNC id 6796
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a MAGE domain
  • HOMOLOGY
    Homologene
    FAMILY
  • melanoma antigen, family A
  • cancer testis antigen (CTA) family
  • 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)
  • MAGEA1 functions as a co-factor of TRIM31 ubiquitin-ligase
  • MAGEA1, MAGEA2, MAGEA3, MAGEA5, MAGEA8 genes are crucial in maintaining normal testicular size and protecting germ cells from excessive apoptosis under genotoxic stress
  • 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
  • DNA methylation has a dominant role in the epigenetic hierarchy governing MAGEA1 expression
  • CTCFL and Sp1 have opposite effects on the regulation of MAGEA1 gene expression
  • MAGEA1 interaction stimulates TRIM31 ubiquitin-ligase activity
  • MAGEA1 reduced intracellular segment of NOTCH1 receptor (NICD1) stability by promoting the ubiquitin modification of NICD1, and interacted with FBXW7, subunit of E3 ubiquitin protein ligase complex SCF, and the latter was functionally involved in NICD1 ubiquitination and degradation
  • interaction between MAGEA1 and CTCF, which is required for the binding of MAGEA1 to the CTCFL promoter and is critical for the recruitment of DNMT3A
  • MAGEA1 inhibits the expression of CTCL via increased promoter methylation
  • MIRLET7A1 functions as a tumor suppressor by targeting MAGEA1 in breast cancer
  • 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)
    tumoral     --over  
    GPC3, MAGE1A and MAGEA3 were increased with advanced tumor stage, size, and nodule numbers in Hepatocellular Carcinoma
    tumoral     --other  
    expressed in 93p100 endometrioid endometrial cancer grade 3 and 86p100 of serous and clear cell carcinomas
    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
  • expression of MAGEA1 genes in peripheral blood may act as a poor prognostic marker in patients with lung cancer
  • Therapy target
    SystemTypeDisorderPubmed
    cancerreproductivebreast
    novel target in breast cancer clinical treatment
    cancerskin 
    MAGEA1 may be a potential therapeutic target for melanoma patients
    ANIMAL & CELL MODELS