• Gene id: 1786

Gene Summary

• Gene Symbol: DNMT1   Gene   UCSC   Ensembl
• Aliases: ADCADN, AIM, CXXC9, DNMT, HSN1E, MCMT, m.HsaI
• Gene name: DNA methyltransferase 1
• Alternate names: DNA (cytosine-5)-methyltransferase 1, CXXC-type zinc finger protein 9, DNA (cytosine-5-)-methyltransferase 1, DNA MTase HsaI, DNA methyltransferase HsaI,
• Gene location: 19p13.2 (10195134: 10133343)     Exons: 41     NC_000019.10
• Gene summary(Entrez): This gene encodes an enzyme that transfers methyl groups to cytosine nucleotides of genomic DNA. This protein is the major enzyme responsible for maintaining methylation patterns following DNA replication and shows a preference for hemi-methylated DNA. Me
• OMIM: 126375

SNPs

rs4804490

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000019.10   g.10156335C>A
NC_000019.9   g.10267011C>A
NG_028016.3   g.79952G>T|SEQ=[C/A]|GENE=DNMT1

rs16999593

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000019.10   g.10180505T>C
NC_000019.9   g.10291181T>C
NG_028016.3   g.55782A>G
NM_001379.4   c.290A>G
NM_001379.3   c.290A>G
NM_001379.2   c.290A>G
NM_001130823.3   c.290A>G
NM_001130823.2   c.290A>G
NM_001130823.1   c.290A>G
NM_001318730.2   c.290A>G
NM_001318730.1  

rs2228612

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000019.10   g.10162696T>A
NC_000019.10   g.10162696T>C
NC_000019.10   g.10162696T>G
NC_000019.9   g.10273372T>A
NC_000019.9   g.10273372T>C
NC_000019.9   g.10273372T>G
NG_028016.3   g.73591A>T
NG_028016.3   g.73591A>G
NG_028016.3   g.73591A>C
NM_001379.4   c.931A>T
N  

rs2228611

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000019.10   g.10156401T>A
NC_000019.10   g.10156401T>C
NC_000019.9   g.10267077T>A
NC_000019.9   g.10267077T>C
NG_028016.3   g.79886A>T
NG_028016.3   g.79886A>G
NM_001379.4   c.1341A>T
NM_001379.4   c.1341A>G
NM_001379.3   c.1341A>T
NM_001379.3   c.1341A>G
NM_001379.  

Protein Summary

• Protein general information: P26358  
  • Name: DNA (cytosine 5) methyltransferase 1 (Dnmt1) (EC 2.1.1.37) (CXXC type zinc finger protein 9) (DNA methyltransferase HsaI) (DNA MTase HsaI) (M.HsaI) (MCMT)
  • Length: 1616  
  • Mass: 183,165
• Sequence:

  MPARTAPARVPTLAVPAISLPDDVRRRLKDLERDSLTEKECVKEKLNLLHEFLQTEIKNQLCDLETKLRKEELSE
  EGYLAKVKSLLNKDLSLENGAHAYNREVNGRLENGNQARSEARRVGMADANSPPKPLSKPRTPRRSKSDGEAKPE
  PSPSPRITRKSTRQTTITSHFAKGPAKRKPQEESERAKSDESIKEEDKDQDEKRRRVTSRERVARPLPAEEPERA
  KSGTRTEKEEERDEKEEKRLRSQTKEPTPKQKLKEEPDREARAGVQADEDEDGDEKDEKKHRSQPKDLAAKRRPE
  EKEPEKVNPQISDEKDEDEKEEKRRKTTPKEPTEKKMARAKTVMNSKTHPPKCIQCGQYLDDPDLKYGQHPPDAV
  DEPQMLTNEKLSIFDANESGFESYEALPQHKLTCFSVYCKHGHLCPIDTGLIEKNIELFFSGSAKPIYDDDPSLE
  GGVNGKNLGPINEWWITGFDGGEKALIGFSTSFAEYILMDPSPEYAPIFGLMQEKIYISKIVVEFLQSNSDSTYE
  DLINKIETTVPPSGLNLNRFTEDSLLRHAQFVVEQVESYDEAGDSDEQPIFLTPCMRDLIKLAGVTLGQRRAQAR
  RQTIRHSTREKDRGPTKATTTKLVYQIFDTFFAEQIEKDDREDKENAFKRRRCGVCEVCQQPECGKCKACKDMVK
  FGGSGRSKQACQERRCPNMAMKEADDDEEVDDNIPEMPSPKKMHQGKKKKQNKNRISWVGEAVKTDGKKSYYKKV
  CIDAETLEVGDCVSVIPDDSSKPLYLARVTALWEDSSNGQMFHAHWFCAGTDTVLGATSDPLELFLVDECEDMQL
  SYIHSKVKVIYKAPSENWAMEGGMDPESLLEGDDGKTYFYQLWYDQDYARFESPPKTQPTEDNKFKFCVSCARLA
  EMRQKEIPRVLEQLEDLDSRVLYYSATKNGILYRVGDGVYLPPEAFTFNIKLSSPVKRPRKEPVDEDLYPEHYRK
  YSDYIKGSNLDAPEPYRIGRIKEIFCPKKSNGRPNETDIKIRVNKFYRPENTHKSTPASYHADINLLYWSDEEAV
  VDFKAVQGRCTVEYGEDLPECVQVYSMGGPNRFYFLEAYNAKSKSFEDPPNHARSPGNKGKGKGKGKGKPKSQAC
  EPSEPEIEIKLPKLRTLDVFSGCGGLSEGFHQAGISDTLWAIEMWDPAAQAFRLNNPGSTVFTEDCNILLKLVMA
  GETTNSRGQRLPQKGDVEMLCGGPPCQGFSGMNRFNSRTYSKFKNSLVVSFLSYCDYYRPRFFLLENVRNFVSFK
  RSMVLKLTLRCLVRMGYQCTFGVLQAGQYGVAQTRRRAIILAAAPGEKLPLFPEPLHVFAPRACQLSVVVDDKKF
  VSNITRLSSGPFRTITVRDTMSDLPEVRNGASALEISYNGEPQSWFQRQLRGAQYQPILRDHICKDMSALVAARM
  RHIPLAPGSDWRDLPNIEVRLSDGTMARKLRYTHHDRKNGRSSSGALRGVCSCVEAGKACDPAARQFNTLIPWCL
  PHTGNRHNHWAGLYGRLEWDGFFSTTVTNPEPMGKQGRVLHPEQHRVVSVRECARSQGFPDTYRLFGNILDKHRQ
  VGNAVPPPLAKAIGLEIKLCMLAKARESASAKIKEEEAAKD

• Structural information:
  • Protein Domains: DMAP-interaction (18-103)
    BAH (755-880)
    BAH (972-1100)
    SAM-dependent (1139-1599)
  • Interpro: IPR001025  IPR018117  IPR001525  IPR031303  IPR022702   IPR010506  IPR017198  IPR029063  IPR002857  
  • Prosite: PS51038 PS00094 PS00095 PS51679 PS51058
  • PDB: 3EPZ 3PTA 3SWR 4WXX 4YOC 4Z96 4Z97 5WVO
  • PDBsum: 3EPZ 3PTA 3SWR 4WXX 4YOC 4Z96 4Z97 5WVO
  • DIP: 39693
  • STRING: ENSP00000352516
• Other Databases: GeneCards:  DNMT1  Malacards:  DNMT1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000122	negative regulation of transcription from RNA polymerase II promoter	IEA	biological process
GO:0003677	DNA binding	IDA	molecular function
GO:0003690	double-stranded DNA binding	IEA	molecular function
GO:0003723	RNA binding	IEA	molecular function
GO:0003886	DNA (cytosine-5-)-methyltransferase activity	IDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IDA	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005657	replication fork	IEA	cellular component
GO:0005721	pericentric heterochromatin	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0006306	DNA methylation	TAS	biological process
GO:0006351	transcription, DNA-templated	IEA	biological process
GO:0007265	Ras protein signal transduction	IMP	biological process
GO:0007420	brain development	IEA	biological process
GO:0007568	aging	IEA	biological process
GO:0008270	zinc ion binding	IEA	molecular function
GO:0008327	methyl-CpG binding	IEA	molecular function
GO:0009008	DNA-methyltransferase activity	IDA	molecular function
GO:0009008	DNA-methyltransferase activity	TAS	molecular function
GO:0009408	response to heat	IEA	biological process
GO:0009636	response to toxic substance	IEA	biological process
GO:0010212	response to ionizing radiation	IEA	biological process
GO:0010216	maintenance of DNA methylation	IDA	biological process
GO:0010216	maintenance of DNA methylation	IDA	biological process
GO:0010424	DNA methylation on cytosine within a CG sequence	IEA	biological process
GO:0010628	positive regulation of gene expression	IMP	biological process
GO:0014823	response to activity	IEA	biological process
GO:0016458	gene silencing	IEA	biological process
GO:0019904	protein domain specific binding	IEA	molecular function
GO:0030182	neuron differentiation	IEA	biological process
GO:0030331	estrogen receptor binding	IEA	molecular function
GO:0031000	response to caffeine	IEA	biological process
GO:0032355	response to estradiol	IEA	biological process
GO:0032496	response to lipopolysaccharide	IEA	biological process
GO:0033189	response to vitamin A	IEA	biological process
GO:0033574	response to testosterone	IEA	biological process
GO:0036120	cellular response to platelet-derived growth factor stimulus	IEA	biological process
GO:0036276	response to antidepressant	IEA	biological process
GO:0042127	regulation of cell proliferation	IEA	biological process
GO:0042826	histone deacetylase binding	IEA	molecular function
GO:0043025	neuronal cell body	IEA	cellular component
GO:0043234	protein complex	IEA	cellular component
GO:0044026	DNA hypermethylation	IEA	biological process
GO:0045322	unmethylated CpG binding	IEA	molecular function
GO:0045471	response to ethanol	IEA	biological process
GO:0045814	negative regulation of gene expression, epigenetic	TAS	biological process
GO:0046498	S-adenosylhomocysteine metabolic process	IEA	biological process
GO:0046499	S-adenosylmethioninamine metabolic process	IEA	biological process
GO:0046500	S-adenosylmethionine metabolic process	IEA	biological process
GO:0051571	positive regulation of histone H3-K4 methylation	IMP	biological process
GO:0051573	negative regulation of histone H3-K9 methylation	IMP	biological process
GO:0051718	DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates	IEA	molecular function
GO:0071230	cellular response to amino acid stimulus	IEA	biological process
GO:0071284	cellular response to lead ion	IEA	biological process
GO:0071560	cellular response to transforming growth factor beta stimulus	IEA	biological process
GO:0090116	C-5 methylation of cytosine	IEA	biological process
GO:0090309	positive regulation of methylation-dependent chromatin silencing	IMP	biological process
GO:1990090	cellular response to nerve growth factor stimulus	IEA	biological process
GO:1990841	promoter-specific chromatin binding	IDA	molecular function
GO:0000122	negative regulation of transcription from RNA polymerase II promoter	IEA	biological process
GO:0000122	negative regulation of transcription from RNA polymerase II promoter	TAS	biological process
GO:0000792	heterochromatin	IEA	cellular component
GO:0003677	DNA binding	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0003677	DNA binding	IDA	molecular function
GO:0003682	chromatin binding	IEA	molecular function
GO:0003682	chromatin binding	IEA	molecular function
GO:0003690	double-stranded DNA binding	IEA	molecular function
GO:0003723	RNA binding	IEA	molecular function
GO:0003886	DNA (cytosine-5-)-methyltransferase activity	IEA	molecular function
GO:0003886	DNA (cytosine-5-)-methyltransferase activity	IEA	molecular function
GO:0003886	DNA (cytosine-5-)-methyltransferase activity	IEA	molecular function
GO:0003886	DNA (cytosine-5-)-methyltransferase activity	IDA	molecular function
GO:0003886	DNA (cytosine-5-)-methyltransferase activity	TAS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005657	replication fork	IEA	cellular component
GO:0005721	pericentric heterochromatin	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0006306	DNA methylation	IEA	biological process
GO:0006306	DNA methylation	TAS	biological process
GO:0006351	transcription, DNA-templated	IEA	biological process
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0007265	Ras protein signal transduction	IMP	biological process
GO:0007420	brain development	IEA	biological process
GO:0007568	aging	IEA	biological process
GO:0008168	methyltransferase activity	IEA	molecular function
GO:0008168	methyltransferase activity	IEA	molecular function
GO:0008168	methyltransferase activity	IEA	molecular function
GO:0008270	zinc ion binding	IEA	molecular function
GO:0008270	zinc ion binding	IEA	molecular function
GO:0008327	methyl-CpG binding	IEA	molecular function
GO:0009008	DNA-methyltransferase activity	IDA	molecular function
GO:0009008	DNA-methyltransferase activity	TAS	molecular function
GO:0009408	response to heat	IEA	biological process
GO:0009636	response to toxic substance	IEA	biological process
GO:0010033	response to organic substance	IEA	biological process
GO:0010212	response to ionizing radiation	IEA	biological process
GO:0010216	maintenance of DNA methylation	IEA	biological process
GO:0010216	maintenance of DNA methylation	IDA	biological process
GO:0010216	maintenance of DNA methylation	IDA	biological process
GO:0010288	response to lead ion	IEA	biological process
GO:0010424	DNA methylation on cytosine within a CG sequence	IEA	biological process
GO:0010468	regulation of gene expression	IEA	biological process
GO:0010628	positive regulation of gene expression	IMP	biological process
GO:0014823	response to activity	IEA	biological process
GO:0016458	gene silencing	IEA	biological process
GO:0016740	transferase activity	IEA	molecular function
GO:0019904	protein domain specific binding	IEA	molecular function
GO:0030182	neuron differentiation	IEA	biological process
GO:0030331	estrogen receptor binding	IEA	molecular function
GO:0031000	response to caffeine	IEA	biological process
GO:0031667	response to nutrient levels	IEA	biological process
GO:0032259	methylation	IEA	biological process
GO:0032355	response to estradiol	IEA	biological process
GO:0032496	response to lipopolysaccharide	IEA	biological process
GO:0032776	DNA methylation on cytosine	IEA	biological process
GO:0033189	response to vitamin A	IEA	biological process
GO:0033574	response to testosterone	IEA	biological process
GO:0036120	cellular response to platelet-derived growth factor stimulus	IEA	biological process
GO:0036276	response to antidepressant	IEA	biological process
GO:0042127	regulation of cell proliferation	IEA	biological process
GO:0042493	response to drug	IEA	biological process
GO:0042826	histone deacetylase binding	IEA	molecular function
GO:0043025	neuronal cell body	IEA	cellular component
GO:0043234	protein complex	IEA	cellular component
GO:0044026	DNA hypermethylation	IEA	biological process
GO:0045322	unmethylated CpG binding	IEA	molecular function
GO:0045471	response to ethanol	IEA	biological process
GO:0045814	negative regulation of gene expression, epigenetic	TAS	biological process
GO:0045892	negative regulation of transcription, DNA-templated	IEA	biological process
GO:0046498	S-adenosylhomocysteine metabolic process	IEA	biological process
GO:0046499	S-adenosylmethioninamine metabolic process	IEA	biological process
GO:0046500	S-adenosylmethionine metabolic process	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0051571	positive regulation of histone H3-K4 methylation	IMP	biological process
GO:0051573	negative regulation of histone H3-K9 methylation	IMP	biological process
GO:0051718	DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates	IEA	molecular function
GO:0071230	cellular response to amino acid stimulus	IEA	biological process
GO:0071284	cellular response to lead ion	IEA	biological process
GO:0071560	cellular response to transforming growth factor beta stimulus	IEA	biological process
GO:0090116	C-5 methylation of cytosine	IEA	biological process
GO:0090309	positive regulation of methylation-dependent chromatin silencing	IMP	biological process
GO:1990090	cellular response to nerve growth factor stimulus	IEA	biological process
GO:1990841	promoter-specific chromatin binding	IDA	molecular function
GO:0000122	negative regulation of transcription from RNA polymerase II promoter	TAS	biological process
GO:0003677	DNA binding	IDA	molecular function
GO:0003886	DNA (cytosine-5-)-methyltransferase activity	IDA	molecular function
GO:0003886	DNA (cytosine-5-)-methyltransferase activity	TAS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0006306	DNA methylation	TAS	biological process
GO:0007265	Ras protein signal transduction	IMP	biological process
GO:0009008	DNA-methyltransferase activity	IDA	molecular function
GO:0009008	DNA-methyltransferase activity	TAS	molecular function
GO:0010216	maintenance of DNA methylation	IDA	biological process
GO:0010216	maintenance of DNA methylation	IDA	biological process
GO:0010628	positive regulation of gene expression	IMP	biological process
GO:0045814	negative regulation of gene expression, epigenetic	TAS	biological process
GO:0051571	positive regulation of histone H3-K4 methylation	IMP	biological process
GO:0051573	negative regulation of histone H3-K9 methylation	IMP	biological process
GO:0090309	positive regulation of methylation-dependent chromatin silencing	IMP	biological process
GO:1990841	promoter-specific chromatin binding	IDA	molecular function

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa05206	MicroRNAs in cancer

Diseases

Associated diseases	References
Cancer (epithelial ovarian)	GAD: 19064572
Cancer (colorectal)	GAD: 19936946
Cancer	GAD: 19124506
Cancer (stomach)	GAD: 20192608
Cancer (breast)	GAD: 19124506
Spinal dysraphism	GAD: 19161160
Spinal dysraphism	GAD: 19161160
Systemic lupus erythematosus (SLE)	GAD: 15375672
Systemic lupus erythematosus (SLE)	GAD: 15375672
Endometriosis	INFBASE: 22349384
Male factor infertility	MIK: 24631383
Oligozoospermia	MIK: 24631383
Oligozoospermia	MIK: 24631383
Non obstructive azoospermia	MIK: 25739334
Associated with spermatogenesis and epigenetic regulation	MIK: 21674046
Cryptorchidism	MIK: 28606200
Non-obstructive azoospermia	MIK: 25739334
Oligospermia	MIK: 24631383
Role in spermatogenesis	MIK: 8064134
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
25739334	Non-obstructive azoospermia			1466 (757 NOA patients, 709 fertile males)	Male infertility	BRWD1 DNMT1 DNMT3B RNF17 UBR2 USP1 USP26 BRDT and MTHFR
24631383	Oligospermia	rs16999593, rs2228612 and rs2228611 in DNMT1	Chinese	574 (342 infertile patients with idiopathic azoospermia or oligospermia, 232 fertile controls)	Male infertility
8064134	Role in spermatogenesis				Male infertility
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Associated with spermatogenesis and epigenetic regulation			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq