Endometriosis Knowledgebase

Search Result

Gene id

1786

Gene Summary Protein Summary Gene ontology KEGG pathways Diseases PubMed references

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. Methylation of DNA is an important component of mammalian epigenetic gene regulation. Aberrant methylation patterns are found in human tumors and associated with developmental abnormalities. Variation in this gene has been associated with cerebellar ataxia, deafness, and narcolepsy, and neuropathy, hereditary sensory, type IE. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]

OMIM

126375

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

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 exp

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)
Motifs	Nuclear localization(177-205)
Interpro:	IPR001025 IPR018117 IPR001525 IPR031303 IPR022702 IPR010506 IPR017198 IPR029063 IPR002857
Prosite:	PS51038 PS00094 PS00095 PS51679 PS51058
Pfam:	PF01426 PF06464 PF00145 PF12047 PF02008
PDB:	3EPZ 3PTA 3SWR 4WXX 4YOC 4Z96 4Z97
PDBsum:	3EPZ 3PTA 3SWR 4WXX 4YOC 4Z96 4Z97
DIP:	39693
MINT:	232346
STRING:	ENSP00000352516;

Other Databases

GeneCards: DNMT1; Malacards: DNMT1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000122	negative regulation of tr anscription from RNA poly merase II promoter	IEA	biological_process
GO:0003677	DNA binding	IDA	molecular_function
GO:0003690	double-stranded DNA bindi ng	IEA	molecular_function
GO:0003723	RNA binding	IEA	molecular_function
GO:0003886	DNA (cytosine-5-)-methylt ransferase 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 heterochromat in	IEA	cellular_component
GO:0005737	cytoplasm	IEA	cellular_component
GO:0006306	DNA methylation	TAS	biological_process
GO:0006351	transcription, DNA-templa ted	IEA	biological_process
GO:0007265	Ras protein signal transd uction	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 act ivity	IDA	molecular_function
GO:0009008	DNA-methyltransferase act ivity	TAS	molecular_function
GO:0009408	response to heat	IEA	biological_process
GO:0009636	response to toxic substan ce	IEA	biological_process
GO:0010212	response to ionizing radi ation	IEA	biological_process
GO:0010216	maintenance of DNA methyl ation	IDA	biological_process
GO:0010216	maintenance of DNA methyl ation	IDA	biological_process
GO:0010424	DNA methylation on cytosi ne within a CG sequence	IEA	biological_process
GO:0010628	positive regulation of ge ne expression	IMP	biological_process
GO:0014823	response to activity	IEA	biological_process
GO:0016458	gene silencing	IEA	biological_process
GO:0019904	protein domain specific b inding	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 lipopolysacch aride	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 plat elet-derived growth facto r stimulus	IEA	biological_process
GO:0036276	response to antidepressan t	IEA	biological_process
GO:0042127	regulation of cell prolif eration	IEA	biological_process
GO:0042826	histone deacetylase bindi ng	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 ge ne expression, epigenetic	TAS	biological_process
GO:0046498	S-adenosylhomocysteine me tabolic process	IEA	biological_process
GO:0046499	S-adenosylmethioninamine metabolic process	IEA	biological_process
GO:0046500	S-adenosylmethionine meta bolic process	IEA	biological_process
GO:0051571	positive regulation of hi stone H3-K4 methylation	IMP	biological_process
GO:0051573	negative regulation of hi stone H3-K9 methylation	IMP	biological_process
GO:0051718	DNA (cytosine-5-)-methylt ransferase activity, acti ng on CpG substrates	IEA	molecular_function
GO:0071230	cellular response to amin o acid stimulus	IEA	biological_process
GO:0071284	cellular response to lead ion	IEA	biological_process
GO:0071560	cellular response to tran sforming growth factor be ta stimulus	IEA	biological_process
GO:0090116	C-5 methylation of cytosi ne	IEA	biological_process
GO:0090309	positive regulation of me thylation-dependent chrom atin silencing	IMP	biological_process
GO:1990090	cellular response to nerv e growth factor stimulus	IEA	biological_process
GO:1990841	promoter-specific chromat in binding	IDA	molecular_function
GO:0000122	negative regulation of tr anscription from RNA poly merase II promoter	IEA	biological_process
GO:0000122	negative regulation of tr anscription from RNA poly merase 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 bindi ng	IEA	molecular_function
GO:0003723	RNA binding	IEA	molecular_function
GO:0003886	DNA (cytosine-5-)-methylt ransferase activity	IEA	molecular_function
GO:0003886	DNA (cytosine-5-)-methylt ransferase activity	IEA	molecular_function
GO:0003886	DNA (cytosine-5-)-methylt ransferase activity	IEA	molecular_function
GO:0003886	DNA (cytosine-5-)-methylt ransferase activity	IDA	molecular_function
GO:0003886	DNA (cytosine-5-)-methylt ransferase 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 heterochromat in	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-templa ted	IEA	biological_process
GO:0006355	regulation of transcripti on, DNA-templated	IEA	biological_process
GO:0007265	Ras protein signal transd uction	IMP	biological_process
GO:0007420	brain development	IEA	biological_process
GO:0007568	aging	IEA	biological_process
GO:0008168	methyltransferase activit y	IEA	molecular_function
GO:0008168	methyltransferase activit y	IEA	molecular_function
GO:0008168	methyltransferase activit y	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 act ivity	IDA	molecular_function
GO:0009008	DNA-methyltransferase act ivity	TAS	molecular_function
GO:0009408	response to heat	IEA	biological_process
GO:0009636	response to toxic substan ce	IEA	biological_process
GO:0010033	response to organic subst ance	IEA	biological_process
GO:0010212	response to ionizing radi ation	IEA	biological_process
GO:0010216	maintenance of DNA methyl ation	IEA	biological_process
GO:0010216	maintenance of DNA methyl ation	IDA	biological_process
GO:0010216	maintenance of DNA methyl ation	IDA	biological_process
GO:0010288	response to lead ion	IEA	biological_process
GO:0010424	DNA methylation on cytosi ne within a CG sequence	IEA	biological_process
GO:0010468	regulation of gene expres sion	IEA	biological_process
GO:0010628	positive regulation of ge ne 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 b inding	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 leve ls	IEA	biological_process
GO:0032259	methylation	IEA	biological_process
GO:0032355	response to estradiol	IEA	biological_process
GO:0032496	response to lipopolysacch aride	IEA	biological_process
GO:0032776	DNA methylation on cytosi ne	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 plat elet-derived growth facto r stimulus	IEA	biological_process
GO:0036276	response to antidepressan t	IEA	biological_process
GO:0042127	regulation of cell prolif eration	IEA	biological_process
GO:0042493	response to drug	IEA	biological_process
GO:0042826	histone deacetylase bindi ng	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 ge ne expression, epigenetic	TAS	biological_process
GO:0045892	negative regulation of tr anscription, DNA-template d	IEA	biological_process
GO:0046498	S-adenosylhomocysteine me tabolic process	IEA	biological_process
GO:0046499	S-adenosylmethioninamine metabolic process	IEA	biological_process
GO:0046500	S-adenosylmethionine meta bolic process	IEA	biological_process
GO:0046872	metal ion binding	IEA	molecular_function
GO:0051571	positive regulation of hi stone H3-K4 methylation	IMP	biological_process
GO:0051573	negative regulation of hi stone H3-K9 methylation	IMP	biological_process
GO:0051718	DNA (cytosine-5-)-methylt ransferase activity, acti ng on CpG substrates	IEA	molecular_function
GO:0071230	cellular response to amin o acid stimulus	IEA	biological_process
GO:0071284	cellular response to lead ion	IEA	biological_process
GO:0071560	cellular response to tran sforming growth factor be ta stimulus	IEA	biological_process
GO:0090116	C-5 methylation of cytosi ne	IEA	biological_process
GO:0090309	positive regulation of me thylation-dependent chrom atin silencing	IMP	biological_process
GO:1990090	cellular response to nerv e growth factor stimulus	IEA	biological_process
GO:1990841	promoter-specific chromat in binding	IDA	molecular_function
GO:0000122	negative regulation of tr anscription from RNA poly merase II promoter	TAS	biological_process
GO:0003677	DNA binding	IDA	molecular_function
GO:0003886	DNA (cytosine-5-)-methylt ransferase activity	IDA	molecular_function
GO:0003886	DNA (cytosine-5-)-methylt ransferase 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 transd uction	IMP	biological_process
GO:0009008	DNA-methyltransferase act ivity	IDA	molecular_function
GO:0009008	DNA-methyltransferase act ivity	TAS	molecular_function
GO:0010216	maintenance of DNA methyl ation	IDA	biological_process
GO:0010216	maintenance of DNA methyl ation	IDA	biological_process
GO:0010628	positive regulation of ge ne expression	IMP	biological_process
GO:0045814	negative regulation of ge ne expression, epigenetic	TAS	biological_process
GO:0051571	positive regulation of hi stone H3-K4 methylation	IMP	biological_process
GO:0051573	negative regulation of hi stone H3-K9 methylation	IMP	biological_process
GO:0090309	positive regulation of me thylation-dependent chrom atin silencing	IMP	biological_process
GO:1990841	promoter-specific chromat in binding	IDA	molecular_function

KEGG pathways

hsa01100  Metabolic pathways
hsa05206  MicroRNAs in cancer
hsa00270  Cysteine and methionine metabolism

Diseases

Associated diseases	References
Cancer	PMID: 19124506
Endometrial cancer	PMID: 27306462
Endometriosis	PMID: 22349384
Non-obstructive azoospermia (NOA)	PMID: 25739334
Oligospermia	PMID: 24631383
Endometriosis	INFBASE22349384
Spinal dysraphism	PMID: 19161160
Systemic lupus erythematosus	PMID: 15375672

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes	Abstract
22349384	Endometrio sis			40 (20 women wi th endometriosi s, the endometr ium in 20 women without endome triosis)		DNMT1 DNMT3a DNMT3b	Show abstract