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FLASH GENE
Symbol MBD1 contributors: mct/npt - updated : 24-09-2009
HGNC name methyl-CpG binding domain protein 1
HGNC id 6916
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a N terminal, methyl-CpG binding-like domain PCM1
  • three cysteine-rich CXXC DNA binding domains
  • a transcriptional repression (TRD) domain repressing the MAGEA1, MAGEA2, MAGEA3, MAGEA12 promoters (Wischnewski 2007)
  • secondary structure beta 1- beta 2 - L1 - beat 3 - beta 4 - L2 - alpla 1 -
    mono polymer monomer
    HOMOLOGY
    interspecies homolog to murine Mbd1
    intraspecies homolog to MBD3
    Homologene
    FAMILY
  • methyl CPG binding domain family
  • CATEGORY DNA associated , transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus,chromatin/chromosome,heterochromosome
    basic FUNCTION
  • repressing transcription in a methylation dependent manner, unique transcriptional regulator depending on the density of methyl-CpG pairs
  • DNA-methylation-mediated translational repression of specific genes
  • cooperating with MPG for transcriptional repression and DNA repair in chromatiin
  • cooperating with PML-RARalpha in transcriptional repression and cellular transformation
  • with HNRPC, and SWI/SNF form a chromatin remodeling complex at the beta-globin locus control region
  • silencing OF MECP2 and MBD1 appear to affect cellular processes independently and discrete sets of genes involved in cellular proliferation, apoptosis, invasion and migration are targeted by each protein (Yaqinuddin 2008)
  • CELLULAR PROCESS nucleotide, transcription, regulation
    PHYSIOLOGICAL PROCESS
    text transcription corepressor
    PATHWAY
    metabolism
    signaling
    a component
  • component of the MECP1 protein complex and MPG
  • complexing with HDAC3( for cooperation with PML-RARA, to the establishment and maintenance of the silenced chromatin state)
  • complexing with ATF7IP/SETDB1 (complex facilitating the formation of heterochromatic domains, and emphasizing the role of MCAF/AM family proteins in epigenetic control)
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • DNA methyl-CpG binding
  • MPG
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral somatic mutation      
    in colon and lung cancer
    constitutional       gain of function
    at specific stages of spermatogenesis, suggesting that they play an important role in the epigenetic reprogramming during spermatogenesis (Wawrzik 2009)
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS