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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

DNMT1 Gene

protein-coding GIFtS: 73
GCID: GC19M010244

DNA (cytosine-5-)-methyltransferase 1

(Previous symbol: DNMT)

Explore 115 diseases affiliated with
DNMT1 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
DNA (Cytosine-5-)-Methyltransferase 1¹ ²		DNA MTase HsaI² ³
MCMT¹ ² ³ ⁵		EC 2.1.1.37³ ⁸
CXXC9¹ ² ³		HSN1E²
DNMT¹ ² ³		DNA (Cytosine-5)-Methyltransferase 1²
AIM² ³		M.HsaI³
CXXC-Type Zinc Finger Protein 9² ³		Dnmt1³
DNA Methyltransferase HsaI² ³		M.HsaI³

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:

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)

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:

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

(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000019.9 NC_018930.1 NT_011295.11

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the DNMT1 gene promoter:
AML1a
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: DNMT1 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 ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
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

Post-translational modifications:

Sumoylated; sumoylation increases activity¹

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 activity¹

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 stability¹

Methylation at Lys-142 by SETD7 promotes DNMT1 proteasomal degradation¹

Ubiquitinated by UHRF1; interaction with USP7 counteracts ubiquitination by UHRF1 by promoting deubiquitination and

preventing degradation by the proteasome (By similarity)¹

View modification sites using PhosphoSitePlus²

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 MOPED and PaxDb: About this image

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:

	Browse Purified and Recombinant Proteins at EMD Millipore
	Browse R&D Systems for human recombinant proteins
	Browse recombinant and purified proteins available from Enzo Life Sciences
	OriGene Purified Protein: DNMT1 Browse OriGene Protein Over-expression Lysates OriGene Custom Protein Services for DNMT1
	GenScript Custom Purified and Recombinant Proteins Services for DNMT1
	Novus Biologicals DNMT1 Protein
	Browse Sino Biological Recombinant Proteins
	Browse ProSpec Recombinant Proteins
	Uscn Proteins for DNMT1

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

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000792	heterochromatin	--	--
GO:0005634	nucleus	IEA	--
GO:0005657	replication fork	IEA	--
GO:0005721	centromeric heterochromatin	IEA	--

DNMT1 for ontologies About GeneDecksing

DNMT1 Antibody Products:

	EMD Millipore Mono- and Polyclonal Antibodies for the study of DNMT1
	R&D Systems Antibodies for DNMT1
	Cell Signaling Technology (CST) Antibodies for DNMT1
	OriGene Antibodies (see all 4): DNMT1 OriGene Custom Antibody Services for DNMT1
	GenScript Custom Superior Antibodies Services for DNMT1
	Novus Biologicals DNMT1 Antibodies
	Abcam antibodies for DNMT1
	Uscn Antibodies for DNMT1
	ThermoFisher Antibody for DNMT1

Assay Products for DNMT1:

	Browse Kits and Assays available from EMD Millipore
	OriGene Custom Immunoassay Development Browse OriGene Fluorogenic Cell Assay Kits
	Browse R&D Systems for biochemical assays
	GenScript Custom Assay Services for DNMT1
	Browse Enzo Life Sciences for kits & assays
	Uscn ELISAs and CLIAs for DNMT1

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

DNMT1 for domains About GeneDecksing

5/7 InterPro domains/families (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 families:

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

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

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

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

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)

		OriGene 3'-UTR Clone (see all 2): DNMT1 Browse MicroRNA Expression Plasmids
		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 plasmid: DNMT1 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for DNMT1 (see all 7) OriGene shRNA RFP: DNMT1 OriGene siRNA: DNMT1
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat DNMT1

Gene Editing
Products:

DNA2.0 Custom Protein Engineering Service for DNMT1

Clone Products:		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for DNMT1 (see all 5) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for DNMT1 (see all 3) OriGene custom cloning services � gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		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

Cell Line Products:		GenScript Custom overexpressing Cell Line Services for DNMT1
		Search LifeMap BioReagents cell lines for DNMT1

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DNMT1

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

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0003677	DNA binding	IDA	18754681
GO:0003723	RNA binding	IEA	--
GO:0003886	DNA (cytosine-5-)-methyltransferase activity	IDA	--
GO:0005515	protein binding	IPI	--
GO:0008134	transcription factor binding	IEA	--

DNMT1 for ontologies About GeneDecksing

2 GenomeRNAi human phenotypes for DNMT1:

Increased cell death HMECs cel

Upregulation of Wnt/beta-caten

Animal Models:
Mouse knock-outs for DNMT1: Dnmt1^tm1Jrc Dnmt1^tm1Enl Dnmt1^tm1Pwl Dnmt1^tm1Jae Dnmt1^tm2Enl
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

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways - 5/8 super-pathways (see all 8) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Methionine metabolism

Methionine metabolism

1.00

Methionine metabolism

1.00

Selected targets of Oct-3/4

Selected targets of Oct-3/4

1.00

One Carbon Metabolism

One Carbon Metabolism

1.00

Regulation of retinoblastoma protein

Regulation of retinoblastoma protein

1.00

DNA Methylation and Transcriptional Repression

DNA Methylation and Transcriptional Repression

1.00

Pathway sources
See GeneCards unified pathways
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

2 BioSystems Pathways for DNMT1

	One Carbon Metabolism
	Regulation of retinoblastoma protein

2 Kegg Pathways (Kegg details for DNMT1):

	Cysteine and methionine metabolism
	Metabolic pathways

DNMT1 for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for DNMT1

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

5/100 Interacting proteins for DNMT1 (P26358^{1, 2, 3} ENSP00000352516⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 100)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
UHRF1	Q96T88¹^,²^,³	EBI-719459,EBI-1548946 MINT-7296348 MINT-7296389 I2D: score=3
DNMT3A	Q9Y6K1²^,³, ENSP00000264709⁴	MINT-7296389 MINT-6178415 MINT-6178447 I2D: score=3 STRING: ENSP00000264709
NRIP1	P48552²^,³, ENSP00000327213⁴	MINT-6178415 MINT-6178447 MINT-6178395 I2D: score=1 STRING: ENSP00000327213
EED	O75530¹^,³, ENSP00000263360⁴	EBI-719459,EBI-1177693 I2D: score=4 STRING: ENSP00000263360
EZH2	Q15910¹^,³, ENSP00000320147⁴	EBI-719459,EBI-746496 I2D: score=4 STRING: ENSP00000320147

About this table

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

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000122	negative regulation of transcription from RNA polymerase II promoter	TAS	10888872
GO:0006306	DNA methylation	TAS	10888872
GO:0006351	transcription, DNA-dependent	IEA	--
GO:0010216	maintenance of DNA methylation	IDA	--
GO:0010468	regulation 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, 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

Compound	Action	CAS #
RG 108	Non-nucleoside DNA methyltransferase inhibitor	[48208-26-0]
Zebularine	DNA methyltransferase and cytidine deaminase inhibitor	[3690-10-6]
Decitabine	DNA methyltransferase inhibitor	[2353-33-5]
5-Azacytidine	DNA methyltransferase inhibitor	[320-67-2]

3 HMDB Compounds for DNMT1 About this table

Compound	Synonyms	CAS #	PubMed Ids
5-Methylcytosine	4-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

Compound	Synonyms	CAS #	Type	Actions	PubMed Ids
Azacitidine	5 AZC (see all 4)	320-67-2	target	inhibitor	14585280 17612710 16341239 12011120 18627335 11752352 2443243 11700387 15793220 20126405 19589026
Decitabine	5-aza-2'-deoxycytidine (see all 3)	2353-33-5	target	inhibitor	17023173 16015501 11352938 12907443 18425818 11688997 18398832 11259619 20072836 11752352 11069027
Flucytosine	5-FC (see all 8)	2022-85-7	target	other	8441637 17139284 17897676 17016423
Procainamide	--	51-06-9	target	other	15795105 2066944 16230360 15188362

10/96 Novoseek 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 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
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, 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

miRNA Products:		OriGene 3'-UTR Clone (see all 2): DNMT1 Browse OriGene MicroRNA Expression Plasmids
		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 plasmid: DNMT1 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for DNMT1 (see all 7) OriGene shRNA RFP: DNMT1 OriGene siRNA: DNMT1
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat DNMT1

Clone Products:		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for DNMT1 (see all 5) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for DNMT1 (see all 3) OriGene custom cloning services � gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector (see all 2): DNMT1 (NM_001379)
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for DNMT1
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DNMT1

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for DNMT1 Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT² qPCR Primer Assay in human, mouse, rat DNMT1
		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat DNMT1
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat DNMT1

Additional cDNA 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 BU732894 AW575686 BM746872 AW293021 BG250183 BU631933

AA283027 AW382349 H05948 BG774192 H05995 BX361944 BF304343 BE842932

AI625978 AA203133 AA380578 BX382549 AW407372 AA282974 AW602088 BE259936

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)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: AAGCTGTTGT

About this image
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:

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Amino Acid Metabolism I in human mouse rat

p53 Signaling Pathway in human mouse rat

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In Situ
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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 8/29 species (see all 29) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Dnmt1^{1 , 5}	DNA methyltransferase (cytosine-5) 1^{1, 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	--	73(a)	1 ↔ 1	GL343414.1(720981-769368)
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
honey bee (Apis mellifera)	Insecta	-- -- (see all 3)	--	53(a) 50(a) (see all 3)	many → 1 many → 1 (see all 3)	Group10.1(308402-314289) GroupUn.596(2212-7899)
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

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, 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

SNP ID	Valid	Clinical significance	Chr 19 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs13784^1,2	C	--	9824844(-)	`AGGTTC/TGCTTA`	2	--	ut3¹		3		MN NA	188
rs75515773^1,2		--	9824907(+)	`TGAACG/AGACAG`	2	--	ut3¹		1		WA	118
rs10423673^1,2	C,F,H,	--	9825179(+)	`GTTCAC/TGGAGA`	2	--	int¹		4		NS EA	420
rs73013012^1,2	C,F,	--	9825202(+)	`CAAACG/AGTCCC`	2	--	int¹		1		NA	120
rs76159732^1,2	F,	--	9825429(+)	`CGTGGG/ATAGGT`	2	--	int¹		1		WA	118
rs79999027^1,2	F,	--	9825725(+)	`AGGACA/TACCTG`	2	--	int¹		1		WA	118
rs72530524^1,2	C,	--	9826589(+)	`ATTCG-/CSSGGG`	2	--	int¹		0	--	--	--	--
rs73922327^1,2	C,	--	9826650(+)	`TGCGCG/ATGCCC`	2	--	int¹		2		WA	120
rs73922328^1,2	C,	--	9827234(+)	`CCGTCG/AGGGAC`	2	--	int¹		2		WA	120
rs62106217^1,2		--	9827815(+)	`GAGTGC/TAATGG`	2	--	int¹		1		NA	2

HapMap Linkage Disequilibrium report for DNMT1 (10244021 - 10341962 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for DNMT1
1 CNV: 5085
Human Gene Mutation Database (HGMD): DNMT1

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

DNMT1 for disorders About GeneDecksing

OMIM gene information: 126375 OMIM disorders: --

UniProtKB/Swiss-Prot: DNMT1_HUMAN, P26358

Defects in DNMT1 are the cause of hereditary sensory neuropathy type 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

20/115 diseases for DNMT1 (see all 115): About MalaCards

sensory neuropathy type 1 estrogen-receptor negative breast cancer hereditary sensory neuropathy familial adenomatous polyposis

mutagen sensitivity malignant pleural mesothelioma bladder transitional cell carcinoma sickle cell disease

transitional cell carcinoma lymphosarcoma spina bifida ataxia telangiectasia

squamous cell carcinoma lupus erythematosus barrett's esophagus carcinoma

myeloid leukemia adenoid cystic carcinoma oral squamous cell carcinoma oral leukoplakia

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

Cancer

10/89 Novoseek 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 1034):
(articles sorted by number of sources associating them with DNMT1)

Utopia: connect your pdf to the dynamic
world of online information

Isolation and characterization of the cDNA encoding human DNA methyltransferase. (PubMed id 1594447)^{1, 2, 3} Yen R.-W.C.... Baylin S.B. (1992)
CXXC domain of human DNMT1 is essential for enzymatic activity. (PubMed id 18754681)^{1, 2, 9} Pradhan M....Pradhan S. (2008)
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)
Characterization of the human DNA methyltransferase splice variant Dnmt1b. (PubMed id 10753866)^{1, 2, 9} Bonfils C.... MacLeod A.R. (2000)
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)
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)
The Polycomb group protein EZH2 directly controls DNA methylation. (PubMed id 16357870)^{1, 2, 9} Vire E.... Fuks F. (2006)
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)
The human DNA methyltransferases (DNMTs) 1, 3a and 3b: coordinate mRNA expression in normal tissues and overexpression in tumors. (PubMed id 10325416)^{1, 2, 9} Robertson K.D.... Jones P.A. (1999)
Dimerization of DNA methyltransferase 1 is mediated by its regulatory domain. (PubMed id 19173286)^{1, 2, 9} Fellinger K.... Leonhardt H. (2009)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
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

Name	Description
PharmGKB entry for DNMT1	Pharmacogenomics, SNPs, Pathways
ATLAS Chromosomes in Cancer entry for DNMT1	Genetics and Cytogenetics in Oncology and Haematology

Intellectual Property for DNMT1 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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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

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DNA (cytosine-5-)-methyltransferase 1

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