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FLASH GENE
Symbol DNMT3L contributors: SGE/npt - updated : 12-06-2009
HGNC name DNA (cytosine-5-)-methyltransferase 3-like
HGNC id 2980
Location 21q22.3      Physical location : 45.666.222 - 45.682.099
Synonym name
  • cytosine-5-methyltransferase 3-like protein
  • human cytosine-5-methyltransferase 3-like protein 9
  • Synonym symbol(s) MGC1090
    DNA
    TYPE functioning gene
    STRUCTURE 15.88 kb     12 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    Map cen - D21S1912 - D21S25 - ICOSLG - DNMT3L - AIRE - D21S1461 - D21S400 - D21S154 - qter
    Authors Aapola (00)
    Physical map
    KIAA0179 21q22.3 pituitary tumor-transforming 1 interacting protein PDXK 21q22.3 pyridoxal (pyridoxine, vitamin B6) kinase C21orf124 21q22.3 chromosome 21 open reading frame 124 C21orf97 21q22.3 chromosome 21 open reading frame 97 CSTB 21q22.3 cystatin B (stefin B) D21S2056E 21q22.3 DNA segment on chromosome 21 (unique) 2056 expressed sequence LOC284837 21q22.3 hypothetical protein LOC284837 MYL6P 21q22.3 myosin, light polypeptide 6, pseudogene AGPAT3 21q22.3 1-acylglycerol-3-phosphate O-acyltransferase 3 TMEM1 21q22.3 transmembrane protein 1 H2AFZP 21q22.3 H2A histone family, member Z, pseudogene PWP2H 21q22.3 PWP2 periodic tryptophan protein homolog (yeast) C21orf33 21q22.3 chromosome 21 open reading frame 33 C21orf32 21q22.3 chromosome 21 open reading frame 32 ICOSL 21q22.3 inducible T-cell co-stimulator ligand DNMT3L 21q22.3 DNA (cytosine-5-)-methyltransferase 3-like AIRE 21q22.3 autoimmune regulator (autoimmune polyendocrinopathy candidiasis ectodermal dystrophy) PFKL 21q22.3 phosphofructokinase, liver C21orf2 21q22.3 chromosome 21 open reading frame 2 TRPM2 21q22.3 transient receptor potential cation channel, subfamily M, member 2 LRRC3 21q22.3 leucine-rich repeat-containing 3 C21orf29 21q22.3 chromosome 21 open reading frame 29 C21orf90 21q22.1 chromosome 21 open reading frame 90 KRTAP10-10 21q22.3 keratin associated protein 10-10 KRTAP12-2 21q22.3 keratin associated protein 12-2 IMMTP 21q22.3 inner membrane protein, mitochondrial (mitofilin) pseudogene KRTAP12-1 21q22.3 keratin associated protein 12-1 UBE2G2 21q22.3 ubiquitin-conjugating enzyme E2G 2 (UBC7 homolog, yeast) SMT3H1 21q22.3 SMT3 suppressor of mif two 3 homolog 1 (yeast) PTTG1IP 21q22.3 pituitary tumor-transforming 1 interacting protein
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    12 - 1705 43.5 387 - Aapola (2000)
    12 - 1702 43.4 386 - Aapola (2000)
    EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Lymphoid/Immunethymus   lowly
    Reproductivefemale systemplacenta   
     female systemovary  lowly
     male systemtestis  lowly
    Urinarykidney    
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • an N-terminal cysteine-rich domain
  • a novel domain ADD (ATRX, DNMT3, DNMT3L) zinc finger containing a C2-C2 type of zinc finger
  • an imperfect PHD zinc finger with C4-C4
  • carboxy-terminal methyltransferase-like domain
  • HOMOLOGY
    Homologene
    FAMILY
  • zinc finger protein type C2-C2 family
  • C5 methyltransferase family
  • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria
    intracellular,nucleus
    basic FUNCTION
  • may be involved in gene expression or genome integrity
  • required for methylation of most imprinted loci in germ cells
  • required for the de novo methylation of imprinting control regions in female germ cells and for the de novo methylation of dispersed repeated sequences in male germ cells
  • stimulates de novo methylation by DNMT3A (Chedin 2002)
  • is thought to be required for the establishment of maternal genomic imprints
  • also mediates transcriptional repression through interaction with histone deacetylase 1
  • CELLULAR PROCESS nucleotide, genomic integrity
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacting with DNMT3B, via its catalytic domain
  • specifically interacts with the extreme amino terminus of histone H3 (recognizes histone H3 tails that are unmethylated at lysine 4 and induces DNA methylation by recruitment or activation of DNMT3A) (Ooi 2007)
  • interacting with the catalytic domain of DNMT3A (Jia 2007)
  • associates directly with both DNMT3A and -3B to potentiate methyltransferase activity (Novakovic 2010)
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral        
    loss of DNA methylation of the promoter in cancer cervix (Gokul 2007)
    constitutional     --over  
    by hypomethylation in full term and first trimester placental tissues (Novakovic 2010)
    Susceptibility
    Variant & Polymorphism other a rare change (R27Q) in amino acids is associated with significant DNA hypomethylation (El-Maari 2009)
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS