Hmdb loader
Survey
Identification
HMDB Protein ID HMDBP05712
Secondary Accession Numbers
  • 11311
Name DNA (cytosine-5)-methyltransferase 1
Synonyms
  1. CXXC-type zinc finger protein 9
  2. DNA MTase HsaI
  3. DNA methyltransferase HsaI
  4. Dnmt1
  5. M.HsaI
  6. MCMT
Gene Name DNMT1
Protein Type Unknown
Biological Properties
General Function Involved in DNA binding
Specific 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.
Pathways
  • Cystathionine Beta-Synthase Deficiency
  • Cysteine and methionine metabolism
  • Glycine N-methyltransferase Deficiency
  • Homocystinuria-megaloblastic anemia due to defect in cobalamin metabolism, cblG complementation type
  • Hypermethioninemia
  • Methionine Adenosyltransferase Deficiency
  • Methionine Metabolism
  • Methylenetetrahydrofolate Reductase Deficiency (MTHFRD)
  • S-Adenosylhomocysteine (SAH) Hydrolase Deficiency
Reactions
S-Adenosylmethionine + DNA → S-Adenosylhomocysteine + DNA containing 5-methylcytosine details
S-Adenosylmethionine + DNA cytosine → S-Adenosylhomocysteine + DNA 5-methylcytosine details
GO Classification
Biological Process
regulation of cell proliferation
negative regulation of histone H3-K9 methylation
positive regulation of histone H3-K4 methylation
gene silencing
maintenance of DNA methylation
cellular response to amino acid stimulus
chromatin modification
negative regulation of transcription from RNA polymerase II promoter
positive regulation of gene expression
transcription, DNA-dependent
Cellular Component
nucleus
centromeric heterochromatin
replication fork
Component
organelle
membrane-bounded organelle
intracellular membrane-bounded organelle
nucleus
Function
ion binding
cation binding
metal ion binding
binding
catalytic activity
transition metal ion binding
zinc ion binding
transferase activity
protein binding
transcription factor binding
nucleic acid binding
dna binding
s-adenosylmethionine-dependent methyltransferase activity
transferase activity, transferring one-carbon groups
methyltransferase activity
dna (cytosine-5-)-methyltransferase activity
Molecular Function
metal ion binding
DNA (cytosine-5-)-methyltransferase activity
methyl-CpG binding
zinc ion binding
RNA binding
DNA binding
Process
metabolic process
macromolecule metabolic process
cellular macromolecule metabolic process
dna metabolic process
dna modification
dna alkylation
dna methylation
Cellular Location
  1. Nucleus
Gene Properties
Chromosome Location 19
Locus 19p13.2
SNPs DNMT1
Gene Sequence
>4851 bp
ATGCCGGCGCGTACCGCCCCAGCCCGGGTGCCCACACTGGCCGTCCCGGCCATCTCGCTG
CCCGACGATGTCCGCAGGCGGCTCAAAGATTTGGAAAGAGACAGCTTAACAGAAAAGGAA
TGTGTGAAGGAGAAATTGAATCTCTTGCACGAATTTCTGCAAACAGAAATAAAGAATCAG
TTATGTGACTTGGAAACCAAATTACGTAAAGAAGAATTATCCGAGGAGGGCTACCTGGCT
AAAGTCAAATCCCTTTTAAATAAAGATTTGTCCTTGGAGAACGGTGCTCATGCTTACAAC
CGGGAAGTGAATGGACGTCTAGAAAACGGGAACCAAGCAAGAAGTGAAGCCCGTAGAGTG
GGAATGGCAGATGCCAACAGCCCCCCCAAACCCCTTTCCAAACCTCGCACGCCCAGGAGG
AGCAAGTCCGATGGAGAGGCTAAGCCTGAACCTTCACCTAGCCCCAGGATTACAAGGAAA
AGCACCAGGCAAACCACCATCACATCTCATTTTGCAAAGGGCCCTGCCAAACGGAAACCT
CAGGAAGAGTCTGAAAGAGCCAAATCGGATGAGTCCATCAAGGAAGAAGACAAAGACCAG
GATGAGAAGAGACGTAGAGTTACATCCAGAGAACGAGTTGCTAGACCGCTTCCTGCAGAA
GAACCTGAAAGAGCAAAATCAGGAACGCGCACTGAAAAGGAAGAAGAAAGAGATGAAAAA
GAAGAAAAGAGACTCCGAAGTCAAACCAAAGAACCAACACCCAAACAGAAACTGAAGGAG
GAGCCGGACAGAGAAGCCAGGGCAGGCGTGCAGGCTGACGAGGACGAAGATGGAGACGAG
AAAGATGAGAAGAAGCACAGAAGTCAACCCAAAGATCTAGCTGCCAAACGGAGGCCCGAA
GAAAAAGAACCTGAAAAAGTAAATCCACAGATTTCTGATGAAAAAGACGAGGATGAAAAG
GAGGAGAAGAGACGCAAAACGACCCCCAAAGAACCAACGGAGAAAAAAATGGCTCGCGCC
AAAACAGTCATGAACTCCAAGACCCACCCTCCCAAGTGCATTCAGTGCGGGCAGTACCTG
GACGACCCTGACCTCAAATATGGGCAGCACCCACCAGACGCGGTGGATGAGCCACAGATG
CTGACAAATGAGAAGCTGTCCATCTTTGATGCCAACGAGTCTGGCTTTGAGAGTTATGAG
GCGCTTCCCCAGCACAAACTGACCTGCTTCAGTGTGTACTGTAAGCACGGTCACCTGTGT
CCCATCGACACCGGCCTCATCGAGAAGAATATCGAACTCTTCTTTTCTGGTTCAGCAAAA
CCAATCTATGATGATGACCCGTCTCTTGAAGGTGGTGTTAATGGCAAAAATCTTGGCCCC
ATAAATGAATGGTGGATCACTGGCTTTGATGGAGGTGAAAAGGCCCTCATCGGCTTCAGC
ACCTCATTTGCCGAATACATTCTGATGGATCCCAGTCCCGAGTATGCGCCCATATTTGGG
CTGATGCAGGAGAAGATCTACATCAGCAAGATTGTGGTGGAGTTCCTGCAGAGCAATTCC
GACTCGACCTATGAGGACCTGATCAACAAGATCGAGACCACGGTTCCTCCTTCTGGCCTC
AACTTGAACCGCTTCACAGAGGACTCCCTCCTGCGACACGCGCAGTTTGTGGTGGAGCAG
GTGGAGAGTTATGACGAGGCCGGGGACAGTGATGAGCAGCCCATCTTCCTGACGCCCTGC
ATGCGGGACCTGATCAAGCTGGCTGGGGTCACGCTGGGACAGAGGCGAGCCCAGGCGAGG
CGGCAGACCATCAGGCATTCTACCAGGGAGAAGGACAGGGGACCCACGAAAGCCACCACC
ACCAAGCTGGTCTACCAGATCTTCGATACTTTCTTCGCAGAGCAAATTGAAAAGGATGAC
AGAGAAGACAAGGAGAACGCCTTTAAGCGCCGGCGATGTGGCGTCTGTGAGGTGTGTCAG
CAGCCTGAGTGTGGGAAATGTAAAGCCTGCAAGGACATGGTTAAATTTGGTGGCAGTGGA
CGGAGCAAGCAGGCTTGCCAAGAGCGGAGGTGTCCCAATATGGCCATGAAGGAGGCAGAT
GACGATGAGGAAGTCGATGATAACATCCCAGAGATGCCGTCACCCAAAAAAATGCACCAG
GGGAAGAAGAAGAAACAGAACAAGAATCGCATCTCTTGGGTCGGAGAAGCCGTCAAGACT
GATGGGAAGAAGAGTTACTATAAGAAGGTGTGCATTGATGCGGAAACCCTGGAAGTGGGG
GACTGTGTCTCTGTTATTCCAGATGATTCCTCAAAACCGCTGTATCTAGCAAGGGTCACG
GCGCTGTGGGAGGACAGCAGCAACGGGCAGATGTTTCACGCCCACTGGTTCTGCGCTGGG
ACAGACACAGTCCTCGGGGCCACGTCGGACCCTCTGGAGCTGTTCTTGGTGGATGAATGT
GAGGACATGCAGCTTTCATATATCCACAGCAAAGTGAAAGTCATCTACAAAGCCCCCTCC
GAAAACTGGGCCATGGAGGGAGGCATGGATCCCGAGTCCCTGCTGGAGGGGGACGACGGG
AAGACCTACTTCTACCAGCTGTGGTATGATCAAGACTACGCGAGATTCGAGTCCCCTCCA
AAAACCCAGCCAACAGAGGACAACAAGTTCAAATTCTGTGTGAGCTGTGCCCGTCTGGCT
GAGATGAGGCAAAAAGAAATCCCCAGGGTCCTGGAGCAGCTCGAGGACCTGGATAGCCGG
GTCCTCTACTACTCAGCCACCAAGAACGGCATCCTGTACCGAGTTGGTGATGGTGTGTAC
CTGCCCCCTGAGGCCTTCACGTTCAACATCAAGCTGTCCAGTCCCGTGAAACGCCCACGG
AAGGAGCCCGTGGATGAGGACCTGTACCCAGAGCACTACCGGAAATACTCCGACTACATC
AAAGGCAGCAACCTGGATGCCCCTGAGCCCTACCGAATTGGCCGGATCAAAGAGATCTTC
TGTCCCAAGAAGAGCAACGGCAGGCCCAATGAGACTGACATCAAAATCCGGGTCAACAAG
TTCTACAGGCCTGAGAACACCCACAAGTCCACTCCAGCGAGCTACCACGCAGACATCAAC
CTGCTCTACTGGAGCGACGAGGAGGCCGTGGTGGACTTCAAGGCTGTGCAGGGCCGCTGC
ACCGTGGAGTATGGGGAGGACCTGCCCGAGTGCGTCCAGGTGTACTCCATGGGCGGCCCC
AACCGCTTCTACTTCCTCGAGGCCTATAATGCAAAGAGCAAAAGCTTTGAAGATCCTCCC
AACCATGCCCGTAGCCCTGGAAACAAAGGGAAGGGCAAGGGAAAAGGGAAGGGCAAGCCC
AAGTCCCAAGCCTGTGAGCCGAGCGAGCCAGAGATAGAGATCAAGCTGCCCAAGCTGCGG
ACCCTGGATGTGTTTTCTGGCTGCGGGGGGTTGTCGGAGGGATTCCACCAAGCAGGCATC
TCTGACACGCTGTGGGCCATCGAGATGTGGGACCCTGCGGCCCAGGCGTTCCGGCTGAAC
AACCCCGGCTCCACAGTGTTCACAGAGGACTGCAACATCCTGCTGAAGCTGGTCATGGCT
GGGGAGACCACCAACTCCCGCGGCCAGCGGCTGCCCCAGAAGGGAGACGTGGAGATGCTG
TGCGGCGGGCCGCCCTGCCAGGGCTTCAGCGGCATGAACCGCTTCAATTCGCGCACCTAC
TCCAAGTTCAAAAACTCTCTGGTGGTTTCCTTCCTCAGCTACTGCGACTACTACCGGCCC
CGGTTCTTCCTCCTGGAGAATGTCAGGAACTTTGTCTCCTTCAAGCGCTCCATGGTCCTG
AAGCTCACCCTCCGCTGCCTGGTCCGCATGGGCTATCAGTGCACCTTCGGCGTGCTGCAG
GCCGGTCAGTACGGCGTGGCCCAGACTAGGAGGCGGGCCATCATCCTGGCCGCGGCCCCT
GGAGAGAAGCTCCCTCTGTTCCCGGAGCCACTGCACGTGTTTGCTCCCCGGGCCTGCCAG
CTGAGCGTGGTGGTGGATGACAAGAAGTTTGTGAGCAACATAACCAGGTTGAGCTCGGGT
CCTTTCCGGACCATCACGGTGCGAGACACGATGTCCGACCTGCCGGAGGTGCGGAATGGA
GCCTCGGCACTGGAGATCTCCTACAACGGGGAGCCTCAGTCCTGGTTCCAGAGGCAGCTC
CGGGGCGCACAGTACCAGCCCATCCTCAGGGACCACATCTGTAAGGACATGAGTGCATTG
GTGGCTGCCCGCATGCGGCACATCCCCTTGGCCCCAGGGTCAGACTGGCGCGATCTGCCC
AACATCGAGGTGCGGCTCTCAGACGGCACCATGGCCAGGAAGCTGCGGTATACCCACCAT
GACAGGAAGAACGGCCGCAGCAGCTCTGGGGCCCTCCGTGGGGTCTGCTCCTGCGTGGAA
GCCGGCAAAGCCTGCGACCCCGCAGCCAGGCAGTTCAACACCCTCATCCCCTGGTGCCTG
CCCCACACCGGGAACCGGCACAACCACTGGGCTGGCCTCTATGGAAGGCTCGAGTGGGAC
GGCTTCTTCAGCACAACCGTCACCAACCCCGAGCCCATGGGCAAGCAGGGCCGCGTGCTC
CACCCAGAGCAGCACCGTGTGGTGAGCGTGCGGGAGTGTGCCCGCTCCCAGGGCTTCCCT
GACACCTACCGGCTCTTCGGCAACATCCTGGACAAGCACCGGCAGGTGGGCAATGCCGTG
CCACCGCCCCTGGCCAAAGCCATTGGCTTGGAGATCAAGCTTTGTATGTTGGCCAAAGCC
CGAGAGAGTGCCTCAGCTAAAATAAAGGAGGAGGAAGCTGCTAAGGACTAG
Protein Properties
Number of Residues 1616
Molecular Weight 184817.425
Theoretical pI 7.859
Pfam Domain Function
Signals Not Available
Transmembrane Regions Not Available
Protein Sequence
>DNA (cytosine-5)-methyltransferase 1
MPARTAPARVPTLAVPAISLPDDVRRRLKDLERDSLTEKECVKEKLNLLHEFLQTEIKNQ
LCDLETKLRKEELSEEGYLAKVKSLLNKDLSLENGAHAYNREVNGRLENGNQARSEARRV
GMADANSPPKPLSKPRTPRRSKSDGEAKPEPSPSPRITRKSTRQTTITSHFAKGPAKRKP
QEESERAKSDESIKEEDKDQDEKRRRVTSRERVARPLPAEEPERAKSGTRTEKEEERDEK
EEKRLRSQTKEPTPKQKLKEEPDREARAGVQADEDEDGDEKDEKKHRSQPKDLAAKRRPE
EKEPEKVNPQISDEKDEDEKEEKRRKTTPKEPTEKKMARAKTVMNSKTHPPKCIQCGQYL
DDPDLKYGQHPPDAVDEPQMLTNEKLSIFDANESGFESYEALPQHKLTCFSVYCKHGHLC
PIDTGLIEKNIELFFSGSAKPIYDDDPSLEGGVNGKNLGPINEWWITGFDGGEKALIGFS
TSFAEYILMDPSPEYAPIFGLMQEKIYISKIVVEFLQSNSDSTYEDLINKIETTVPPSGL
NLNRFTEDSLLRHAQFVVEQVESYDEAGDSDEQPIFLTPCMRDLIKLAGVTLGQRRAQAR
RQTIRHSTREKDRGPTKATTTKLVYQIFDTFFAEQIEKDDREDKENAFKRRRCGVCEVCQ
QPECGKCKACKDMVKFGGSGRSKQACQERRCPNMAMKEADDDEEVDDNIPEMPSPKKMHQ
GKKKKQNKNRISWVGEAVKTDGKKSYYKKVCIDAETLEVGDCVSVIPDDSSKPLYLARVT
ALWEDSSNGQMFHAHWFCAGTDTVLGATSDPLELFLVDECEDMQLSYIHSKVKVIYKAPS
ENWAMEGGMDPESLLEGDDGKTYFYQLWYDQDYARFESPPKTQPTEDNKFKFCVSCARLA
EMRQKEIPRVLEQLEDLDSRVLYYSATKNGILYRVGDGVYLPPEAFTFNIKLSSPVKRPR
KEPVDEDLYPEHYRKYSDYIKGSNLDAPEPYRIGRIKEIFCPKKSNGRPNETDIKIRVNK
FYRPENTHKSTPASYHADINLLYWSDEEAVVDFKAVQGRCTVEYGEDLPECVQVYSMGGP
NRFYFLEAYNAKSKSFEDPPNHARSPGNKGKGKGKGKGKPKSQACEPSEPEIEIKLPKLR
TLDVFSGCGGLSEGFHQAGISDTLWAIEMWDPAAQAFRLNNPGSTVFTEDCNILLKLVMA
GETTNSRGQRLPQKGDVEMLCGGPPCQGFSGMNRFNSRTYSKFKNSLVVSFLSYCDYYRP
RFFLLENVRNFVSFKRSMVLKLTLRCLVRMGYQCTFGVLQAGQYGVAQTRRRAIILAAAP
GEKLPLFPEPLHVFAPRACQLSVVVDDKKFVSNITRLSSGPFRTITVRDTMSDLPEVRNG
ASALEISYNGEPQSWFQRQLRGAQYQPILRDHICKDMSALVAARMRHIPLAPGSDWRDLP
NIEVRLSDGTMARKLRYTHHDRKNGRSSSGALRGVCSCVEAGKACDPAARQFNTLIPWCL
PHTGNRHNHWAGLYGRLEWDGFFSTTVTNPEPMGKQGRVLHPEQHRVVSVRECARSQGFP
DTYRLFGNILDKHRQVGNAVPPPLAKAIGLEIKLCMLAKARESASAKIKEEEAAKD
GenBank ID Protein 1632819
UniProtKB/Swiss-Prot ID P26358
UniProtKB/Swiss-Prot Entry Name DNMT1_HUMAN
PDB IDs
GenBank Gene ID X63692
GeneCard ID DNMT1
GenAtlas ID DNMT1
HGNC ID HGNC:2976
References
General References
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  25. Rountree MR, Bachman KE, Baylin SB: DNMT1 binds HDAC2 and a new co-repressor, DMAP1, to form a complex at replication foci. Nat Genet. 2000 Jul;25(3):269-77. [PubMed:10888872 ]
  26. Robertson KD, Ait-Si-Ali S, Yokochi T, Wade PA, Jones PL, Wolffe AP: DNMT1 forms a complex with Rb, E2F1 and HDAC1 and represses transcription from E2F-responsive promoters. Nat Genet. 2000 Jul;25(3):338-42. [PubMed:10888886 ]
  27. Pradhan M, Esteve PO, Chin HG, Samaranayke M, Kim GD, Pradhan S: CXXC domain of human DNMT1 is essential for enzymatic activity. Biochemistry. 2008 Sep 23;47(38):10000-9. doi: 10.1021/bi8011725. Epub 2008 Aug 29. [PubMed:18754681 ]
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