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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
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
17 - 3284 61 605 - Ross, Nakao, Wischnewski (2007)
  • 3CXXC domains, repression of transcription preferentially from both unmethylated and hypomethylated promoters
  • 14 splicing 3005 - 586 - Ross, Wischnewski (2007)
    3CXXC domains (1, 2, 3)
    16 splicing 3116 - 549 - Ross, Nakao, Wischnewski (2007)
  • 2CXXC domains (1, 2), inhibition of hypermethylated but not hypomethylated promoter activities
  • 15 splicing 2978 - 503 - Ross, Wischnewski (2007)
    5' most CXXC motif spliced, 2CXXC domains (1, 2)
    16 - 3137 - 556 - Ross, Wischnewski (2007)
  • also called PCM1
  • 2CXXC domain (1, 2)
  • EXPRESSION
    Type widely
    constitutive of
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveliver    
    Endocrinepancreas    
    Nervousbrain    
    Reproductivemale systemprostate   
     male systemtestis   
    Respiratorylung    
    Urinarykidney    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Epithelial    
    Muscularstriatumskeletal  
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Reproductiveepithelial cell
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    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