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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

DNMT1 Gene

protein-coding   GIFtS: 74
GCID: GC19M010244

DNA (Cytosine-5-)-Methyltransferase 1


(Previous symbol: DNMT)
Microbiology & Infectious Diseases Congress
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
DNA (Cytosine-5-)-Methyltransferase 11 2     EC 2.1.1.373 8
DNMT1 2 3     ADCADN2
MCMT2 3 5     HSN1E2
AIM2 3     DNA (Cytosine-5)-Methyltransferase 12
CXXC92 3     m.HsaI2
CXXC-Type Zinc Finger Protein 92 3     Dnmt13
DNA Methyltransferase HsaI2 3     M.HsaI3
DNA MTase HsaI2 3     

External Ids:    HGNC: 29761   Entrez Gene: 17862   Ensembl: ENSG000001308167   OMIM: 1263755   UniProtKB: P263583   

Export aliases for DNMT1 gene to outside databases

Previous GC identifers: GC19M010365 GC19M010466 GC19M010089 GC19M010105 GC19M009824


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for DNMT1 Gene:
DNA (cytosine-5-)-methyltransferase 1 has a role in the establishment and regulation of tissue-specific patterns
of methylated cytosine residues. Aberrant methylation patterns are associated with certain human tumors and
developmental abnormalities. Two transcript variants encoding different isoforms have been found for this gene.
(provided by RefSeq, Aug 2008)

GeneCards Summary for DNMT1 Gene: 
DNMT1 (DNA (cytosine-5-)-methyltransferase 1) is a protein-coding gene. Diseases associated with DNMT1 include cerebellar ataxia-deafness-narcolepsy syndrome, and lymphosarcoma, and among its related super-pathways are Sulfur amino acid metabolism and One carbon pool by folate. GO annotations related to this gene include methyl-CpG binding and RNA binding.

UniProtKB/Swiss-Prot: DNMT1_HUMAN, P26358
Function: Methylates CpG residues. Preferentially methylates hemimethylated DNA. Associates with DNA replication
sites in S phase maintaining the methylation pattern in the newly synthesized strand, that is essential for
epigenetic inheritance. Associates with chromatin during G2 and M phases to maintain DNA methylation
independently of replication. It is responsible for maintaining methylation patterns established in development.
DNA methylation is coordinated with methylation of histones. Mediates transcriptional repression by direct
binding to HDAC2. In association with DNMT3B and via the recruitment of CTCFL/BORIS, involved in activation of
BAG1 gene expression by modulating dimethylation of promoter histone H3 at H3K4 and H3K9

summary for DNMT1 Gene:
DNA methyltransferase (DNMT) add methyl groups to DNA to effect gene expression. There are three types of
DNMTs. DNMT1 is predominately responsible for hemimethylated CpG island methylation, DNMT2 in fact transfers
methyl groups to RNA not DNA, hence has been renamed to tRNA aspartic acid methyltransferase 1 (TRDMT1) and
DNMT3 is responsible for unmethylated CpG island methylation.

Gene Wiki entry for DNMT1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000019.9  NT_011295.11  NC_018930.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the DNMT1 gene promoter:
         AML1a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidDNMT1 promoter sequence
   Search SABiosciences Chromatin IP Primers for DNMT1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat DNMT1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 19p13.2   Ensembl cytogenetic band:  19p13.2   HGNC cytogenetic band: 19p13.2

DNMT1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
DNMT1 gene location

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19M010244:  view genomic region     (about GC identifiers)

Start:
10,244,021 bp from pter      End:
10,341,962 bp from pter
Size:
97,942 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: DNMT1_HUMAN, P26358 (See protein sequence)
Recommended Name: DNA (cytosine-5)-methyltransferase 1  
Size: 1616 amino acids; 183165 Da
Subunit: Binds to CSNK1D (By similarity). Homodimer. Interacts with HDAC1 and with PCNA. Forms a complex with
DMAP1 and HDAC2, with direct interaction. Forms also a stable complex with E2F1, BB1 and HDAC1. Binds MBD2 and
MBD3. Component of complexes containing SUV39H1. Interacts with DNMT3A and DNMT3B. Interacts with the
PRC2/EED-EZH2 complex. Interacts with UBC9 and BAZ2A/TIP5. Interacts with UHRF1; promoting its recruitment to
hemimethylated DNA. Interacts with USP7, promoting its deubiquitination
Subcellular location: Nucleus
Sequence caution: Sequence=AAD54507.1; Type=Erroneous gene model prediction;
3 PDB 3D structures from and Proteopedia for DNMT1:
3EPZ (3D)        3PTA (3D)        3SWR (3D)    
Secondary accessions: A0AV63 B7ZLW6 Q9UHG5 Q9ULA2 Q9UMZ6
Alternative splicing: 3 isoforms:  P26358-1   P26358-2   P26358-3   

Explore the universe of human proteins at neXtProt for DNMT1: NX_P26358

Explore proteomics data for DNMT1 at MOPED 

Post-translational modifications:

  • UniProtKB: Sumoylated; sumoylation increases activity
  • UniProtKB: Acetylation on multiple lysines, mainly by KAT2B/PCAF, regulates cell cycle G(2)/M transition. Deacetylation of
    Lys-1349 and Lys-1415 by SIRT1 increases methyltransferase activity
  • UniProtKB: Phosphorylation of Ser-154 by CDKs is important for enzymatic activity and protein stability. Phosphorylation of
    Ser-143 by AKT1 prevents methylation by SETD7 therebye increasing DNMT1 stability
  • UniProtKB: Methylation at Lys-142 by SETD7 promotes DNMT1 proteasomal degradation
  • UniProtKB: Ubiquitinated by UHRF1; interaction with USP7 counteracts ubiquitination by UHRF1 by promoting deubiquitination
    and preventing degradation by the proteasome (By similarity)
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P26358

  • 4/18 DME Specific Peptides for DNMT1 (P26358) (see all 18)
     LDDPDLK  GGPPCQG  EMPSPKK  FSGCGGL 

    DNMT1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    DNMT1 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001124295.1  NP_001370.1  

    ENSEMBL proteins: 
     ENSP00000466657   ENSP00000345739   ENSP00000467125   ENSP00000352516   ENSP00000467260  
     ENSP00000464958   ENSP00000467050   ENSP00000465223   ENSP00000465993   ENSP00000468359  
     ENSP00000468062   ENSP00000465555   ENSP00000440457  

    Human Recombinant Protein Products for DNMT1: 
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    Novus Biologicals DNMT1 Protein
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for DNMT1 

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000792heterochromatin ----
    GO:0005634nucleus IEA--
    GO:0005657replication fork IEA--
    GO:0005721centromeric heterochromatin IEA--

    DNMT1 for ontologies           About GeneDecksing



    DNMT1 Antibody Products: 
    EMD Millipore Mono- and Polyclonal Antibodies for the study of DNMT1
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    Cell Signaling Technology (CST) Antibodies for DNMT1 
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    Abcam antibodies for DNMT1
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    LSBio Antibodies in human, mouse, rat for DNMT1 

    Assay Products for DNMT1: 
    Browse Kits and Assays available from EMD Millipore
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    GenScript Custom Assay Services for DNMT1
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for DNMT1 
    Cloud-Clone Corp. CLIAs for DNMT1


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    5/7 InterPro protein domains (see all 7):
     IPR010506 DMAP1-bd
     IPR017198 DNA_C5-MeTrfase_1_euk
     IPR018117 C5_DNA_meth_AS
     IPR001525 C5_MeTfrase
     IPR001025 BAH_dom

    Graphical View of Domain Structure for InterPro Entry P26358

    ProtoNet protein and cluster: P26358

    4 Blocks protein domains:
    IPB001025 Bromo adjacent region
    IPB001525 C-5 cytosine-specific DNA methylase
    IPB002857 Zn-finger
    IPB010506 DMAP1-binding


    UniProtKB/Swiss-Prot: DNMT1_HUMAN, P26358
    Domain: The N-terminal part is required for homodimerization and acts as a regulatory domain
    Domain: The CXXC-type zinc finger specifically binds to unmethylated CpG dinucleotides, positioning the
    autoinhibitory linker between the DNA and the active site, thus providing a mechanism to ensure that only
    hemimethylated CpG dinucleotides undergo methylation (PubMed:21163962)
    Similarity: Belongs to the C5-methyltransferase family
    Similarity: Contains 2 BAH domains
    Similarity: Contains 1 CXXC-type zinc finger


    DNMT1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: DNMT1_HUMAN, P26358
    Function: Methylates CpG residues. Preferentially methylates hemimethylated DNA. Associates with DNA replication
    sites in S phase maintaining the methylation pattern in the newly synthesized strand, that is essential for
    epigenetic inheritance. Associates with chromatin during G2 and M phases to maintain DNA methylation
    independently of replication. It is responsible for maintaining methylation patterns established in development.
    DNA methylation is coordinated with methylation of histones. Mediates transcriptional repression by direct
    binding to HDAC2. In association with DNMT3B and via the recruitment of CTCFL/BORIS, involved in activation of
    BAG1 gene expression by modulating dimethylation of promoter histone H3 at H3K4 and H3K9
    Catalytic activity: S-adenosyl-L-methionine + DNA = S-adenosyl-L-homocysteine + DNA containing 5-methylcytosine
    Induction: Its abundance is reduced to non detectable levels at the G0 phase of the cell cycle and is dramatically
    induced upon entrance into the S-phase of the cell cycle

         Genatlas biochemistry entry for DNMT1:
    DNA methyltransferase,1 (5-methyl-cytosine),constitutively expressed, with two alternatively spliced isoforms,a
    long form abundantly expressed in several tissues and cell lines and a short form,mainly involved in the
    maintenance of DNA-methylation activities,also associating with HDAC1,acting as a putative mediator of the
    methylation process

         Enzyme Number (IUBMB): EC 2.1.1.371 2

         Gene Ontology (GO): 5/9 molecular function terms (GO ID links to tree view) (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding IDA18754681
    GO:0003723RNA binding IEA--
    GO:0003886DNA (cytosine-5-)-methyltransferase activity IDA--
    GO:0005515protein binding IPI16357870
    GO:0008134transcription factor binding IEA--
         
    DNMT1 for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for DNMT1:
     Increased cell death HMECs cel  Upregulation of Wnt/beta-caten 

         15/16 MGI mutant phenotypes (inferred from 13 alleles(MGI details for Dnmt1) (see all 16):
     behavior/neurological  cellular  digestive/alimentary  embryogenesis  growth/size 
     hematopoietic system  homeostasis/metabolism  immune system  integument  mortality/aging 
     nervous system  no phenotypic analysis  normal  pigmentation  reproductive system 

    DNMT1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for DNMT1: Dnmt1tm1Jrc Dnmt1tm1Enl Dnmt1tm1Pwl Dnmt1tm1Jae Dnmt1tm2Enl

       inGenious Targeting Laboratory - Custom generated mouse model solutions for DNMT1 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for DNMT1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for DNMT1 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for DNMT1 

    miRNA
    Products:
        
    miRTarBase miRNAs that target DNMT1:
    hsa-mir-152 (MIRT004456), hsa-mir-29b (MIRT003661), hsa-mir-301b (MIRT004598), hsa-mir-148a (MIRT000020), hsa-mir-126 (MIRT005729)

    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat DNMT1
    8/11 QIAGEN miScript miRNA Assays for microRNAs that regulate DNMT1 (see all 11):
    hsa-miR-3163 hsa-miR-142-5p hsa-miR-548d-3p hsa-miR-548am hsa-miR-148b hsa-miR-4306 hsa-miR-152 hsa-miR-185
    SwitchGear 3'UTR luciferase reporter plasmidDNMT1 3' UTR sequence
    Inhib. RNA
    Products:
        
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    Gene Editing
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    Clone
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    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
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    OriGene ORF clones in mouse, rat for DNMT1
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    GenScript: all cDNA clones in your preferred vector (see all 2): DNMT1 (NM_001379)
    Sino Biological Human cDNA Clone for DNMT1
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for DNMT1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DNMT1

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DNMT1


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for DNMT1 About   (see all 9)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Cysteine and methionine metabolism
    Cysteine and methionine metabolism0.37
    Methionine metabolism0.32
    2One Carbon Metabolism
    One Carbon Metabolism0.53
    3Metabolism
    Metabolic pathways0.40
    4DNA Methylation and Transcriptional Repression
    DNA Methylation and Transcriptional Repression0.30
    5Trans-sulfuration pathway
    Trans-sulfuration pathway

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    2 EMD Millipore Pathways for DNMT1
        Selected targets of Oct-3/4
    Methionine metabolism

    1 Downloadable PowerPoint Slide of QIAGEN Pathway Central Maps for DNMT1
        DNA Methylation and Transcriptional Repression

    1 Cell Signaling Technology (CST) Pathway for DNMT1
        Chromatin Regulation / Acetylation

    1 GeneGo (Thomson Reuters) Pathway for DNMT1
        Methionine metabolism

    3 BioSystems Pathways for DNMT1
        One Carbon Metabolism
    Trans-sulfuration pathway
    Regulation of retinoblastoma protein



    3         Kegg Pathways  (Kegg details for DNMT1):
        Cysteine and methionine metabolism
    Metabolic pathways
    MicroRNAs in cancer


    DNMT1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for DNMT1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/118 Interacting proteins for DNMT1 (P263581, 2, 3 ENSP000003525164) via UniProtKB, MINT, STRING, and/or I2D (see all 118)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    UHRF1Q96T881, 2, 3EBI-719459,EBI-1548946 MINT-7296348 MINT-7296389 I2D: score=3 
    CSNK2BP678702, 3MINT-8253242 I2D: score=2 
    ENSG00000206406P678702, 3MINT-8253242 I2D: score=2 
    ENSG00000224398P678702, 3MINT-8253242 I2D: score=2 
    ENSG00000224774P678702, 3MINT-8253242 I2D: score=2 
    About this table

    Gene Ontology (GO): 5/14 biological process terms (GO ID links to tree view) (see all 14):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000122negative regulation of transcription from RNA polymerase II promoter TAS10888872
    GO:0006306DNA methylation TAS10888872
    GO:0006351transcription, DNA-dependent IEA--
    GO:0010216maintenance of DNA methylation IDA18754681
    GO:0010468regulation of gene expression ----

    DNMT1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    DNMT1 for compounds           About GeneDecksing

    EMD Millipore small molecules for DNMT1:
    Small Molecule - inhibitor
    Enzo Life Sciences drugs & compounds for DNMT1

    Compounds for DNMT1 available from Tocris Bioscience    About this table
    CompoundAction CAS #
    UNC 0638Selective G9a and GLP histone lysine methyltransferase inhibitor[1255517-77-1]
    BIX 01294G9a-like protein and G9a histone lysine methyltransferase inhibitor[935693-62-2]
    SGC 0946Highly potent and selective DOT1L inhibitor; cell permeable--
    3-Deazaneplanocin A hydrochlorideHistone methyltransferase inhibitor[120964-45-6]
    UNC 0646Potent and selective G9a/GLP inhibitor[1320288-17-2]

    3 HMDB Compounds for DNMT1    About this table
    CompoundSynonyms CAS #PubMed Ids
    5-Methylcytosine4-Amino-5-methyl-2-pyrimidinol (see all 5)554-01-8--
    S-Adenosylhomocysteine(S)-5'-(S)-(3-Amino-3-carboxypropyl)-5'-thioadenosine (see all 19)979-92-0--
    S-Adenosylmethionine(3S)-5'-[(3-amino-3-carboxypropyl)methylsulfonio]-5'-deoxyadenosine (see all 16)29908-03-0--

    4 DrugBank Compounds for DNMT1    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Azacitidine5 AZC (see all 4)320-67-2targetinhibitor14585280 17612710 16341239 12011120 18627335 11752352 2443243 11700387 15793220 20126405 19589026
    Decitabine5-aza-2'-deoxycytidine (see all 3)2353-33-5targetinhibitor17023173 16015501 11352938 12907443 18425818 11688997 18398832 11259619 20072836 11752352 11069027
    Flucytosine5-FC (see all 8)2022-85-7targetother8441637 17139284 17897676 17016423
    Procainamide-- 51-06-9targetother15795105 2066944 16230360 15188362

    10/96 Novoseek inferred chemical compound relationships for DNMT1 gene (see all 96)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    5-aza-2'deoxycytidine 95.7 340 19233506 (4), 12665573 (3), 19459041 (3), 7527544 (3) (see all 99)
    zebularine 88.6 24 19459041 (3), 16606618 (1), 15885659 (1), 16505122 (1) (see all 13)
    cytosine 86.6 84 17283125 (3), 19236003 (3), 16901546 (2), 15799776 (2) (see all 56)
    5-methylcytosine 83.6 23 18980644 (4), 17283125 (2), 9425235 (2), 10737890 (1) (see all 12)
    s-adenosylmethionine 80.1 65 10551869 (2), 1993667 (1), 10737890 (1), 11933228 (1) (see all 40)
    azathioprine 79.8 53 17575103 (2), 18499340 (1), 19151599 (1), 18641459 (1) (see all 33)
    5-fluoro-2-deoxycytidine 76.6 13 15522920 (1), 20151336 (1), 19222038 (1)
    s-adenosylhomocysteine 70.6 18 20450651 (1), 16358338 (1), 17976013 (1), 19088160 (1) (see all 12)
    azathioprine 69.7 58 12495905 (1), 14558597 (1), 15113415 (1), 15180995 (1) (see all 42)
    sinefungin 67.9 2 1720117 (1), 1396713 (1)

    Search CenterWatch for drugs/clinical trials and news about DNMT1

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for DNMT1 gene (2 alternative transcripts): 
    NM_001130823.1  NM_001379.2  

    Unigene Cluster for DNMT1:

    DNA (cytosine-5-)-methyltransferase 1
    Hs.202672  [show with all ESTs]
    Unigene Representative Sequence: X63692
    18/29 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 29):
    ENST00000586588 ENST00000592705 ENST00000340748(uc002mnf.3 uc002mng.3 uc002mnk.3)
    ENST00000591798 ENST00000588913 ENST00000359526(uc010xlc.2 uc002mnh.3 uc010dxb.1)
    ENST00000589294 ENST00000587197 ENST00000589538 ENST00000589351 ENST00000593049
    ENST00000587604 ENST00000589091 ENST00000591239 ENST00000586667 ENST00000586799
    ENST00000585843 ENST00000589349
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

    miRNA
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    8/11 QIAGEN miScript miRNA Assays for microRNAs that regulate DNMT1 (see all 11):
    hsa-miR-3163 hsa-miR-142-5p hsa-miR-548d-3p hsa-miR-548am hsa-miR-148b hsa-miR-4306 hsa-miR-152 hsa-miR-185
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    Additional mRNA sequence: 

    AB209413.2 AF180682.1 AK122759.1 AY927518.1 BC126227.1 BC144093.1 X63692.1 

    24/27 DOTS entries (see all 27):

    DT.99932571  DT.218178  DT.97859706  DT.75185008  DT.97859709  DT.101980466  DT.40116476  DT.87046336 
    DT.95191106  DT.100656733  DT.121484742  DT.121484696  DT.97859707  DT.121484676  DT.121484706  DT.40245497 
    DT.92446626  DT.100740385  DT.40306536  DT.40315524  DT.75188308  DT.92446632  DT.95191091  DT.100656734 

    24/35 AceView cDNA sequences (see all 35):

    AW951377 AL120771 BU631933 BG250183 BM746872 BU732894 AW575686 AW293021 
    H05995 H05948 AW382349 BG774192 AA283027 BX361944 AI625978 AA380578 
    AW602088 AA580154 BX382549 BE259936 BF747653 BF747636 AA282974 BF304343 

    GeneLoc Exon Structure

    5/23 Alternative Splicing Database (ASD) splice patterns (SP) for DNMT1 (see all 23)    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10 ^ 11a · 11b ^ 12a · 12b ^ 13a · 13b ^ 14a · 14b ^ 15a · 15b ^ 16 ^ 17a · 17b · 17c ^ 18 ^
    SP1:                                                                                                                                                            
    SP2:                                                                                                                                                            
    SP3:                    -                                                                                                                                       
    SP4:                                                                                                                                                            
    SP5:                                                                                                                                                            

    ExUns: 19a · 19b ^ 20 ^ 21a · 21b ^ 22a · 22b · 22c ^ 23 ^ 24 ^ 25 ^ 26a · 26b · 26c · 26d ^ 27a · 27b · 27c ^ 28a · 28b · 28c ^ 29 ^ 30 ^ 31 ^ 32a · 32b ^
    SP1:                                                  -                 -     -                       -     -                                                   
    SP2:                                                                                                                                                            
    SP3:                                                                                                                                                            
    SP4:                                                                                                                                                            
    SP5:                                                                                                                                                            

    ExUns: 33a · 33b · 33c · 33d ^ 34 ^ 35a · 35b ^ 36 ^ 37 ^ 38
    SP1:                    -                 -     -               
    SP2:                                                            
    SP3:                                                            
    SP4:                                                            
    SP5:                                                            


    ECgene alternative splicing isoforms for DNMT1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    DNMT1 expression in normal human tissues (normalized intensities)      DNMT1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AAGCTGTTGT
    DNMT1 Expression
    About this image


    DNMT1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/15 selected tissues (see all 15) fully expand
     
     Brain (Nervous System)    fully expand to see all 13 entries
             Thalamus
             Olfactory Bulb   
     
     Lymph (Hematopoietic System)    fully expand to see all 3 entries
             lymph node ; germinal center cells   
             LYMPH NODE   
     
     Limb (Muscoskeletal System)    fully expand to see all 2 entries
             limb/hindlimb   
     
     Lower Urinary Tract (Urinary System)
             visceral organ   
     
     Neural Tube (Nervous System)
             Telencephalon

    See DNMT1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for DNMT1

    SOURCE GeneReport for Unigene cluster: Hs.202672

    UniProtKB/Swiss-Prot: DNMT1_HUMAN, P26358
    Tissue specificity: Ubiquitous; highly expressed in fetal tissues, heart, kidney, placenta, peripheral blood
    mononuclear cells, and expressed at lower levels in spleen, lung, brain, small intestine, colon, liver, and
    skeletal muscle. Isoform 2 is less expressed than isoform 1

        SABiosciences Expression via Pathway-Focused PCR Arrays including DNMT1: 
              Epigenetic Chromatin Modification Enzymes in human mouse rat
              Polycomb & Trithorax Complexes in human mouse rat
              Amino Acid Metabolism I in human mouse rat
              p53 Signaling Pathway in human mouse rat

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for DNMT1 gene from 7/20 species (see all 20)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Dnmt11 , 5 DNA methyltransferase (cytosine-5) 11, 5 78.75(n)1
    78.75(a)1
      9 (7.66 cM)5
    134331  NM_001199431.11  NP_001186360.21 
     209072065 
    chicken
    (Gallus gallus)
    Aves DNMT11 DNA (cytosine-5-)-methyltransferase 1 78.28(n)
    82.66(a)
      396011  NM_206952.1  NP_996835.1 
    lizard
    (Anolis carolinensis)
    Reptilia DNMT16
    DNA (cytosine-5-)-methyltransferase 1
    71(a)
    1 ↔ 1
    GL343414.1(718108-794391)
    African clawed frog
    (Xenopus laevis)
    Amphibia D78638.12   -- 75.88(n)    D78638.1 
    zebrafish
    (Danio rerio)
    Actinopterygii dnmt12 DNA (cytosine-5-)-methyltransferase 1 76.84(n)   30430  AF483203.1 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons MET11 DNA (cytosine-5)-methyltransferase 1 46(n)
    39.1(a)
      834975  NM_124293.3  NP_199727.1 
    rice
    (Oryza sativa)
    Liliopsida Os.309772 Oryza sativa (japonica cultivar-group) cDNA clone0 more 72.76(n)    NM_185055.1 


    ENSEMBL Gene Tree for DNMT1 (if available)
    TreeFam Gene Tree for DNMT1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for DNMT1 gene
    18/51 SIMAP similar genes for DNMT1 using alignment to 13 protein entries:     DNMT1_HUMAN (see all proteins) (see all similar genes):
    DCTN5    ZNF737    EML2    SHANK2    ZNF461    FAM210A
    FKBP3    UTY    C18orf8    ATP6V0A1    BECN1    ZNF74
    ZNF564    ZNF585B    NF2    ADCK5    UBIAD1    ZNF547

    DNMT1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/1521 SNPs in DNMT1 are shown (see all 1521)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 19 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0659664
    Hereditary sensory neuropathy 1E (HSN1E)4--see VAR_0659662 Y C mis40--------
    rs725305241,2
    C--9826588(+) ATTCG-/CSSGGG 2 -- int10--------
    rs1468768231,2
    C--9851388(+) GGGGGA/GAAAAA 2 -- int11Minor allele frequency- G:0.00EU 929
    rs3745975691,2
    C--9866447(+) ACACA-/C/TATATA 2 -- int10--------
    rs348586321,2
    C--9867485(+) GTATC-/AAAAAA 2 -- int10--------
    rs1115518951,2
    C--9881993(+) ATAAA-/ATAAAAT 2 -- int11Minor allele frequency- AT:0.00CSA 2
    rs349117321,2
    C--9886804(+) ATCTC-/AAAAAA 2 -- us2k10--------
    rs1166315001,2
    C,F--10179924(+) CAACTA/GAAGAG 2 -- ds50010--------
    rs1393263971,2
    --10179957(+) CCGGGC/GCTCCA 2 -- ds50010--------
    rs1500086311,2
    --10180033(+) GGTCAC/TAGGAT 2 -- ds50010--------

    HapMap Linkage Disequilibrium report for DNMT1 (10244021 - 10341962 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for DNMT1:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2718168CNV Deletion23290073
    esv1001261CNV Deletion20482838
    nsv833743CNV Loss17160897


    Human Gene Mutation Database (HGMD): DNMT1
    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 126375    OMIM disorders: --

    UniProtKB/Swiss-Prot: DNMT1_HUMAN, P26358
  • Hereditary sensory neuropathy 1E (HSN1E) [MIM:614116]: A neurodegenerative disorder characterized by
    adult onset of progressive peripheral sensory loss associated with progressive hearing impairment and early-onset
    dementia. Note=The disease is caused by mutations affecting the gene represented in this entry

  • 20/110 diseases for DNMT1 (see all 110):    About MalaCards
    cerebellar ataxia-deafness-narcolepsy syndrome    lymphosarcoma    sensory neuropathy type 1    loeys-dietz syndrome
    hereditary sensory neuropathy    mutagen sensitivity    oral leukoplakia    estrogen-receptor negative breast cancer
    bladder transitional cell carcinoma    sickle cell disease    transitional cell carcinoma    testicular cancer
    leukoplakia    myelodysplastic syndromes    seminoma    lung squamous cell carcinoma
    bladder carcinoma    rett syndrome    t cell deficiency    familial adenomatous polyposis

    1 disease from the University of Copenhagen DISEASES database for DNMT1:
    Cancer

    DNMT1 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    10/89 Novoseek inferred disease relationships for DNMT1 gene (see all 89)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    icf syndrome 79.7 3 12163705 (1), 15470359 (1), 11708861 (1)
    myelodysplastic syndromes 70.8 26 15661269 (1), 16341239 (1), 19509169 (1), 7683350 (1) (see all 17)
    cancer 70.4 228 15721400 (8), 17456764 (5), 16424002 (3), 16204030 (3) (see all 99)
    tumors 61.8 225 17067458 (6), 20093774 (4), 16505122 (3), 16930846 (3) (see all 99)
    leukemogenesis 50 3 15467427 (1), 19194470 (1), 15964234 (1)
    colon cancer 44.9 42 20354000 (3), 8816806 (2), 15312538 (2), 17307743 (2) (see all 23)
    hematologic malignancies 43.9 12 16341239 (2), 16523529 (1), 19546476 (1), 16341238 (1) (see all 9)
    colorectal cancer 42.6 41 17657744 (4), 19569244 (3), 12637155 (3), 20192566 (3) (see all 21)
    breast cancer 38.5 60 19798569 (4), 15755728 (3), 14614325 (3), 11585728 (2) (see all 28)
    hepatocellular carcinoma 37.2 12 17549390 (2), 18049164 (2), 15885882 (2), 12712445 (2) (see all 7)

    Genetic Association Database (GAD): DNMT1
    Human Genome Epidemiology (HuGE) Navigator: DNMT1 (17 documents)

    Export disorders for DNMT1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for DNMT1 gene, integrated from 9 sources (see all 1060):
    (articles sorted by number of sources associating them with DNMT1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Isolation and characterization of the cDNA encoding human DNA methyltransferase. (PubMed id 1594447)1, 2, 3 Yen R.-W.C.... Baylin S.B. (1992)
    2. CXXC domain of human DNMT1 is essential for enzymatic activity. (PubMed id 18754681)1, 2, 9 Pradhan M....Pradhan S. (2008)
    3. Association analyses of DNA methyltransferase-1 (DNMT1) polymorphisms with systemic lupus erythematosus. (PubMed id 15375672)1, 4, 9 Park B.L....Bae S.C. (2004)
    4. Characterization of the human DNA methyltransferase splice variant Dnmt1b. (PubMed id 10753866)1, 2, 9 Bonfils C.... MacLeod A.R. (2000)
    5. Two-stage case-control study of DNMT-1 and DNMT-3B ge ne variants and breast cancer risk. (PubMed id 19798569)1, 4, 9 Ye C....Cai Q. (2010)
    6. Lack of effects of single nucleotide polymorphisms of the DNA methyltransferase 1 gene on gastric cancer in Iranian patients: a case control study. (PubMed id 20192608)1, 4, 9 Khatami F....Zali M.R. (2009)
    7. DNMT1 binds HDAC2 and a new co-repressor, DMAP1, to form a complex at replication foci. (PubMed id 10888872)1, 2, 9 Rountree M.R.... Baylin S.B. (2000)
    8. MBD2-MBD3 complex binds to hemi-methylated DNA and forms a complex containing DNMT1 at the replication foci in late S phase. (PubMed id 10947852)1, 2, 9 Tatematsu K.... Ishikawa F. (2000)
    9. The Polycomb group protein EZH2 directly controls DNA methylation. (PubMed id 16357870)1, 2, 9 Vire E.... Fuks F. (2006)
    10. DNMT1 forms a complex with Rb, E2F1 and HDAC1 and represses transcription from E2F-responsive promoters. (PubMed id 10888886)1, 2, 9 Robertson K.D....Wolffe A.P. (2000)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 1786 HGNC: 2976 AceView: DNMT1 Ensembl:ENSG00000130816 euGenes: HUgn1786
    ECgene: DNMT1 Kegg: 1786 H-InvDB: DNMT1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for DNMT1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for DNMT1 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for DNMT1 gene:
    Search GeneIP for patents involving DNMT1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
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    About This Section

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     inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for DNMT1
    Customized:
     lentivirus for stable overexpression
     lentivirus expression plasmids for stable overexpression
     adenovirus for overexpression of DNMT1
     LSBio Antibodies in human, mouse, rat for DNMT1
    Customized transgenic rodents for:
     Humanization
     Biomarker expression
     Off-target effect monitoring
     Translational medicine
     Tissue-specific gene expresssion
     Time-controlled gene expresssion
           
    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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    (GIFtS: 73)
    transforming growth factor, beta 1
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