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    DNMT1 DNA (cytosine-5-)-methyltransferase 1 [ Homo sapiens ]

    Gene ID: 1786, updated on 11-May-2012

    Summary

    Official Symbol
    DNMT1provided by HGNC
    Official Full Name
    DNA (cytosine-5-)-methyltransferase 1provided by HGNC
    Primary source
    HGNC:2976
    See related
    Ensembl:ENSG00000130816; HPRD:00532; MIM:126375
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    AIM; DNMT; MCMT; CXXC9; HSN1E; FLJ16293; MGC104992
    Summary
    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]

    Genomic context

    Location :
    19p13.2
    Sequence :
    Chromosome: 19; NC_000019.9 (10244022..10305755, complement)
    See DNMT1 in Epigenomics, MapViewer

    Chromosome 19 - NC_000019.9Genomic Context describing neighboring genes Neighboring gene PPAN-P2RY11 readthrough Neighboring gene small nucleolar RNA, C/D box 105B Neighboring gene peter pan homolog (Drosophila) Neighboring gene purinergic receptor P2Y, G-protein coupled, 11 Neighboring gene eukaryotic translation initiation factor 3, subunit G Neighboring gene sphingosine-1-phosphate receptor 2 Neighboring gene microRNA 4322 Neighboring gene mitochondrial ribosomal protein L4

    Genomic regions, transcripts, and products

    Bibliography

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description
    NP_001370.1 NP_061973.1 DMAP1    BIND  PubMed DNMT1 interacts with DMAP1. 
    NP_001370.1 NP_783328.1 DNMT3A    BIND  PubMed hDNMT3a interacts with hDNMT1. 
    NP_001370.1 NP_008823.1 DNMT3B    BIND  PubMed hDNMT3b interacts with hDNMT1. 
    NP_001370.1 DNMT3B    BIND  PubMed DNMT3B interacts with DNMT1. 
    NP_001370.1 NP_001518.1 HDAC2    BIND  PubMed DNMT1 interacts with HDAC2. 
    NP_001370.1 NP_002583.1 PCNA    BIND  PubMed DNMT1 is a PCNA-binding protein 
    NP_001370.1 NC_000003.9 RARB    BIND  PubMed DNMT1 interacts with RARB (RAR-beta-2) gene promoter sequences. 
    NP_001370.1 NP_000312.1 RB1    BIND  PubMed Rb interacts with hDnmt1. 
    P26358 P83916 CBX1    HPRD  PubMed  
    P26358 Q9UER7 DAXX    HPRD  PubMed  
    P26358 Q9NPF5 DMAP1    HPRD  PubMed  
    P26358 P26358 DNMT1    HPRD  PubMed  
    P26358 Q9Y6K1 DNMT3A    HPRD  PubMed  
    P26358 Q9UBC3 DNMT3B    HPRD  PubMed  
    P26358 P63167 DYNLL1    HPRD  PubMed  
    P26358 Embryonic ectoderm development EED    HPRD  PubMed  
    P26358 Q15910 EZH2    HPRD  PubMed  
    P26358 Q13547 HDAC1    HPRD  PubMed  
    P26358 Q92769 HDAC2    HPRD  PubMed  
    P26358 P09429 HMGB1    HPRD  PubMed  
    P26358 P12004 PCNA    HPRD  PubMed  
    P26358 P06400 RB1    HPRD  PubMed  
    P26358 O43463 SUV39H1    HPRD  PubMed  
    P26358 P14373 TRIM27    HPRD  PubMed  
    P26358 Q99816 TSG101    HPRD  PubMed  
    BioGRID:108123 BioGRID:106710 AKT1    BioGRID  PubMed Affinity Capture-Western; Biochemical Activity; Reconstituted Complex 
    BioGRID:108123 BioGRID:116346 BAZ2A    BioGRID  PubMed Reconstituted Complex 
    BioGRID:108123 BioGRID:116151 CBX1    BioGRID  PubMed Reconstituted Complex 
    BioGRID:108123 BioGRID:117030 CBX5    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:108123 BioGRID:107536 CHEK1    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:108123 BioGRID:107843 CSNK2B    BioGRID  PubMed Two-hybrid 
    BioGRID:108123 BioGRID:119045 CXXC1    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:108123 BioGRID:107985 DAXX    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:108123 BioGRID:121004 DMAP1    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex; Two-hybrid 
    BioGRID:108123 BioGRID:108125 DNMT3A    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex 
    BioGRID:108123 BioGRID:108126 DNMT3B    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex 
    BioGRID:108123 BioGRID:108201 E2F1    BioGRID  PubMed Co-fractionation 
    BioGRID:108123 BioGRID:114265 EED    BioGRID  PubMed Affinity Capture-Western; Co-localization 
    BioGRID:108123 BioGRID:116123 EHMT2    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:108123 BioGRID:108446 EZH2    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex 
    BioGRID:108123 BioGRID:108014 GADD45A    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:108123 BioGRID:109187 GSK3B    BioGRID  PubMed Two-hybrid 
    BioGRID:108123 BioGRID:109315 HDAC1    BioGRID  PubMed Affinity Capture-Western; Co-fractionation; Co-localization; Reconstituted Complex 
    BioGRID:108123 BioGRID:109316 HDAC2    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex; Two-hybrid 
    BioGRID:108123 BioGRID:109320 HELLS    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex 
    BioGRID:108123 BioGRID:32711 HHT1    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:108123 BioGRID:35796 HHT2    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:108123 BioGRID:109540 HSPA4    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:108123 BioGRID:109541 HSPA5    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:108123 BioGRID:115779 KAT5    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:108123 BioGRID:114445 MBD2    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:108123 BioGRID:110368 MECP2    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex 
    BioGRID:108123 BioGRID:111142 PCNA    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex 
    BioGRID:108123 BioGRID:111820 RAD9A    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:108123 BioGRID:111860 RB1    BioGRID  PubMed Affinity Capture-Western; Co-fractionation; Reconstituted Complex 
    BioGRID:108123 BioGRID:114987 RGS6    BioGRID  PubMed Reconstituted Complex 
    BioGRID:108123 BioGRID:118144 RPS6KA6    BioGRID  PubMed Two-hybrid 
    BioGRID:108123 BioGRID:123332 SETD7    BioGRID  PubMed Affinity Capture-Western; Biochemical Activity; Co-crystal Structure 
    BioGRID:108123 BioGRID:116983 SIRT1    BioGRID  PubMed Affinity Capture-Western; Biochemical Activity 
    BioGRID:108123 BioGRID:114045 SMARCA5    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:108123 BioGRID:112521 SNRPG    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:108123 BioGRID:112550 SP1    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:108123 BioGRID:112553 SP3    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:108123 BioGRID:112651 STAT3    BioGRID  PubMed Affinity Capture-Western; Co-localization 
    BioGRID:108123 BioGRID:112497 SUMO2    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:108123 BioGRID:112706 SUV39H1    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:108123 BioGRID:117059 SUZ12    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:108123 BioGRID:112791 TCF3    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:108123 BioGRID:113010 TP53    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:108123 BioGRID:111919 TRIM27    BioGRID  PubMed Two-hybrid 
    BioGRID:108123 BioGRID:115457 TRIM28    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:108123 BioGRID:113164 UBC    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:108123 BioGRID:118893 UHRF1    BioGRID  PubMed Affinity Capture-Western; Biochemical Activity; Co-localization; Reconstituted Complex; Two-hybrid 
    BioGRID:108123 BioGRID:125434 UHRF2    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:108123 BioGRID:113622 USP7    BioGRID  PubMed Affinity Capture-MS; Affinity Capture-Western; Biochemical Activity; Reconstituted Complex 
    BioGRID:108123 BioGRID:113327 WT1    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:108123 BioGRID:116168 YWHAQ    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:108123 BioGRID:131375 ZFP57    BioGRID  PubMed Affinity Capture-Western 

    General gene information

    Markers

    Homology

    Pathways from BioSystems

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    DNA (cytosine-5-)-methyltransferase activity IEA
    Inferred from Electronic Annotation
    more info
     
    DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    DNA-methyltransferase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    transcription factor binding IEA
    Inferred from Electronic Annotation
    more info
     
    transferase activity IEA
    Inferred from Electronic Annotation
    more info
     
    zinc ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    C-5 methylation of cytosine TAS
    Traceable Author Statement
    more info
    PubMed 
    DNA methylation TAS
    Traceable Author Statement
    more info
    PubMed 
    cellular response to amino acid stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    chromatin modification IEA
    Inferred from Electronic Annotation
    more info
     
    gene silencing IEA
    Inferred from Electronic Annotation
    more info
     
    maintenance of DNA methylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of histone H3-K9 methylation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of transcription from RNA polymerase II promoter TAS
    Traceable Author Statement
    more info
    PubMed 
    positive regulation of gene expression IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of histone H3-K4 methylation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    centromeric heterochromatin IEA
    Inferred from Electronic Annotation
    more info
     
    nucleus IEA
    Inferred from Electronic Annotation
    more info
     
    replication fork IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    DNA (cytosine-5)-methyltransferase 1
    Names
    DNA (cytosine-5)-methyltransferase 1
    m.HsaI
    DNA MTase HsaI
    CXXC finger protein 9
    DNA methyltransferase 1
    DNA methyltransferase HsaI
    CXXC-type zinc finger protein 9
    NP_001124295.1
    NP_001370.1

    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_028016.1 RefSeqGene

      Range
      5001..66734
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001130823.1NP_001124295.1  DNA (cytosine-5)-methyltransferase 1 isoform a

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a).
      Source sequence(s)
      BC092517, BC126227, DA653750, X63692
      Consensus CDS
      CCDS45958.1
      UniProtKB/Swiss-Prot
      P26358
      Related
      ENSP00000352516, ENST00000359526
      Conserved Domains (6) summary
      cd04711
      Location:9811117
      Blast Score: 666
      BAH_Dnmt1_II; BAH, or Bromo Adjacent Homology domain, second copy present in DNA (Cytosine-5)-methyltransferases from Bilateria, Dnmt1 and similar proteins. DNA methylation, or the covalent addition of a methyl group to cytosine within the context of the CpG ...
      cd04760
      Location:770893
      Blast Score: 550
      BAH_Dnmt1_I; BAH, or Bromo Adjacent Homology domain, first copy present in DNA (Cytosine-5)-methyltransferases from Bilateria, Dnmt1 and similar proteins. DNA methylation, or the covalent addition of a methyl group to cytosine within the context of the CpG ...
      pfam06464
      Location:16105
      Blast Score: 252
      DMAP_binding; DMAP1-binding Domain
      pfam02008
      Location:662707
      Blast Score: 209
      zf-CXXC; CXXC zinc finger domain
      pfam12047
      Location:415550
      Blast Score: 413
      DNMT1-RFD; Cytosine specific DNA methyltransferase replication foci domain
      cl16911
      Location:11551384
      Blast Score: 306
      AdoMet_MTases; S-adenosylmethionine-dependent methyltransferases (SAM or AdoMet-MTase), class I; AdoMet-MTases are enzymes that use S-adenosyl-L-methionine (SAM or AdoMet) as a substrate for methyltransfer, creating the product S-adenosyl-L-homocysteine (AdoHcy). ...
    2. NM_001379.2NP_001370.1  DNA (cytosine-5)-methyltransferase 1 isoform b

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (b) has the same N- and C-termini but is shorter compared to isoform a.
      Source sequence(s)
      BC092517, BC126227, DA653750, X63692
      Consensus CDS
      CCDS12228.1
      UniProtKB/Swiss-Prot
      P26358
      Related
      ENSP00000345739, ENST00000340748
      Conserved Domains (6) summary
      cd04711
      Location:9651101
      Blast Score: 666
      BAH_Dnmt1_II; BAH, or Bromo Adjacent Homology domain, second copy present in DNA (Cytosine-5)-methyltransferases from Bilateria, Dnmt1 and similar proteins. DNA methylation, or the covalent addition of a methyl group to cytosine within the context of the CpG ...
      cd04760
      Location:754877
      Blast Score: 550
      BAH_Dnmt1_I; BAH, or Bromo Adjacent Homology domain, first copy present in DNA (Cytosine-5)-methyltransferases from Bilateria, Dnmt1 and similar proteins. DNA methylation, or the covalent addition of a methyl group to cytosine within the context of the CpG ...
      pfam06464
      Location:16105
      Blast Score: 253
      DMAP_binding; DMAP1-binding Domain
      pfam02008
      Location:646691
      Blast Score: 209
      zf-CXXC; CXXC zinc finger domain
      pfam12047
      Location:399534
      Blast Score: 412
      DNMT1-RFD; Cytosine specific DNA methyltransferase replication foci domain
      cl16911
      Location:11391368
      Blast Score: 305
      AdoMet_MTases; S-adenosylmethionine-dependent methyltransferases (SAM or AdoMet-MTase), class I; AdoMet-MTases are enzymes that use S-adenosyl-L-methionine (SAM or AdoMet) as a substrate for methyltransfer, creating the product S-adenosyl-L-homocysteine (AdoHcy). ...

    RefSeqs of Annotated Genomes: Build 37.3

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh37.p5 Primary Assembly

    Genomic

    1. NC_000019.9 Reference GRCh37.p5 Primary Assembly

      Range
      10244022..10305755, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000151.1 Alternate HuRef

      Range
      9824670..9886268, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Related Sequences

    Nucleotide Protein
    Heading Accession and Version
    genomic AC010077.1 AAD54507.1
    genomic AC011511.12 (2962..9776) None
    genomic AC020931.6 (119296..129047) None
    genomic CH471106.1 EAW84079.1
      EAW84080.1
    mRNA AB209413.2 BAD92650.1
    mRNA AF180682.1 AAF23609.1
    mRNA AK122759.1 BAG53712.1
    mRNA AY927518.1 None
    mRNA BC092517.1 AAH92517.1
    mRNA BC126227.1 AAI26228.1
    mRNA BC144093.1 AAI44094.1
    mRNA DA653750.1 None
    mRNA X63692.1 CAA45219.1
    Protein Accession Links
    GenPept Link UniProtKB Link
    P26358.2 GenPept UniProtKB/Swiss-Prot:P26358
    Q59FP7 GenPept UniProtKB/TrEMBL:Q59FP7

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