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FLASH GENE
Symbol MBD3L1 contributors: mct - updated : 29-09-2014
HGNC name methyl-CpG binding domain protein 3-like 1
HGNC id 15774
Location 19p13.2      Physical location : 8.953.268 - 8.954.016
Synonym name
  • methyl-CpG binding domain protein 3-like
  • MBD3-like 1
  • Synonym symbol(s) MBD3L, MGC138263, MGC138269
    DNA
    TYPE functioning gene
    STRUCTURE 0.75 kb     1 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    1 - 748 - 194 - -
    EXPRESSION
    Type restricted
    constitutive of
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Endocrinepancreas    
    Reproductivemale systemtestis  specific
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Epithelialsecretoryglandularendocrine 
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Reproductivespermatid
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • one coiled-coil domain near the C terminus
  • HOMOLOGY
    interspecies homolog to murine Mbd3l1
    intraspecies homolog to MBD3L2
    homolog to to MBD2 and MBD3
    Homologene
    FAMILY
  • MBD3L family
  • CATEGORY regulatory
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus
    basic FUNCTION
  • playing a role in the postmeiotic stages of male germ cell development
  • enhancing transcriptional repression of methylated DNA by MBD2
  • playing a role as a methylation-dependent transcriptional repressor that may interchange with MBD3 as an MBD2-interacting component of the NuRD complex
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • components of the NuRD complex
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • associates with and colocalizes with MBD2 but not with MBD3
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    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