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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
Location 18q21.1      Physical location : 47.795.216 - 47.808.144
Synonym name
  • protein containing methyl-CPG-binding domain 1
  • CXXC-type zinc finger protein 3
  • the regulator of fibroblast growth factor 2 (FGF-2)
  • transcription
    Synonym symbol(s) MECP1, PCM1, CXXC3, RFT
    DNA
    TYPE functioning gene
    STRUCTURE 12.93 kb     17 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence Binding site
    text structure methylated DNA
    MAPPING cloned Y linked N status provisional
    Map cen - D18S470 - MBD1 - D18S64 - qter
    Authors Unigene
    Physical map
    MIZ1 18q12.1-q12.3 similar to ribosomal protein L29 TCEB3L2 18q12,3 similar to ribosomal protein L29 TCEB3L 18q21.1 similar to ribosomal protein L29 DKFZP564D1378 18q21.1 hypothetical protein DKFZp564D1378 HSPC039 18q12 HSPC039 protein LOC390851 18 similar to RIKEN cDNA C230094B15 LOC201411 18q21.1 similar to Thiopurine S-methyltransferase (Thiopurine methyltransferase) MADH2 18q21 MAD, mothers against decapentaplegic homolog 2 (Drosophila) LOC201501 18q21.1 similar to B230208J24Rik protein HEIL1 KIAA0427 18q21.1 KIAA0427 MADH7 18q21.1 MAD, mothers against decapentaplegic homolog 7 (Drosophila) FLJ20071 RPL17 18q21.1 ribosomal protein L17 LOC390852 18 similar to signal recognition particle 72kDa LIPG 18q21.1 lipase, endothelial ACAA2 18q21.1 acetyl-Coenzyme A acyltransferase 2 (mitochondrial 3-oxoacyl-Coenzyme A thiolase) MYO5B 18q12 myosin VB FLJ32743 18q21.1 hypothetical protein FLJ32743 MBD1 18q21 methyl-CpG binding domain protein 1 CGBP 18q12 methyl-CpG binding domain protein 1 MGC10200 18q21.1 hypothetical protein MGC:10200 LOC390853 18 similar to acidic ribosomal phosphoprotein P0 MAPK4 18q21.2-q21.3 mitogen-activated protein kinase 4 B29 18q21 mitogen-activated protein kinase 4 ME2 18q21 malic enzyme 2, NAD(+)-dependent, mitochondrial ELAC1 18q21 elaC homolog 1 (E. coli) MADH4 18q21.1 MAD, mothers against decapentaplegic homolog 4 (Drosophila) LOC51320 18q21.1 hypothetical protein LOC51320 LOC390854 18 similar to neuroepithelial cell transforming gene 1; guanine nucleotide regulatory protein (oncogene); Rho guanine nucleotide exchange factor (GEF) 8 LOC390855 18 similar to 40S ribosomal protein S8 DCC 18q21.1 deleted in colorectal carcinoma LOC390856 18 similar to ribosomal protein L29
    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