DNMT1 Gene (Protein Coding)

DNA Methyltransferase 1

GC19M010133
GIFtS:
50
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 i... See more...

Aliases for DNMT1 Gene

Aliases for DNMT1 Gene

  • DNA Methyltransferase 1 2 3 5
  • CXXC9 2 3 4
  • MCMT 2 3 4
  • DNA (Cytosine-5-)-Methyltransferase 1 2 3
  • DNA (Cytosine-5)-Methyltransferase 1 3 4
  • CXXC-Type Zinc Finger Protein 9 3 4
  • DNA Methyltransferase HsaI 3 4
  • DNA MTase HsaI 3 4
  • EC 2.1.1.37 4 51
  • M.HsaI 3 4
  • DNMT 3 4
  • AIM 3 4
  • ADCADN 3
  • HSN1E 3
  • DNMT1 5
  • Dnmt1 4

External Ids for DNMT1 Gene

Previous HGNC Symbols for DNMT1 Gene

  • DNMT

Previous GeneCards Identifiers for DNMT1 Gene

  • GC19M010365
  • GC19M010466
  • GC19M010089
  • GC19M010105
  • GC19M010244
  • GC19M009824

Summaries for DNMT1 Gene

Entrez Gene Summary for DNMT1 Gene

  • 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]

CIViC Summary for DNMT1 Gene

GeneCards Summary for DNMT1 Gene

DNMT1 (DNA Methyltransferase 1) is a Protein Coding gene. Diseases associated with DNMT1 include Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant and Neuropathy, Hereditary Sensory, Type Ie. Among its related pathways are One carbon pool by folate and Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3. Gene Ontology (GO) annotations related to this gene include RNA binding and transcription factor binding. An important paralog of this gene is TRDMT1.

UniProtKB/Swiss-Prot Summary for DNMT1 Gene

  • 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. Probably forms a corepressor complex required for activated KRAS-mediated promoter hypermethylation and transcriptional silencing of tumor suppressor genes (TSGs) or other tumor-related genes in colorectal cancer (CRC) cells (PubMed:24623306). Also required to maintain a transcriptionally repressive state of genes in undifferentiated embryonic stem cells (ESCs) (PubMed:24623306). Associates at promoter regions of tumor suppressor genes (TSGs) leading to their gene silencing (PubMed:24623306). Promotes tumor growth (PubMed:24623306).

Tocris Summary for DNMT1 Gene

  • Protein arginine methyltransferases are enyzmes that catalyze the transfer of methyl groups from S-adenosylmethionine (SAM) to the arginine residues on histones and other proteins. The dysregulation of this methylation is critical in the development of certain cancers.

Gene Wiki entry for DNMT1 Gene

Additional gene information for DNMT1 Gene

No data available for PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for DNMT1 Gene

Genomics for DNMT1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for DNMT1 Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH19J010224 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 617.9 +2.9 2886 7.9 SP1 HNRNPL CREB1 CTCF ATF7 PRDM10 ZNF629 IKZF1 KDM1A ZNF692 DNMT1 ILF3 KRI1 PPAN ZNF699 LOC100419831 ZNF266 TIMM29 ZNF561 ZNF426
GH19J010192 Promoter/Enhancer 2.2 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas 617.5 +37.0 36977 3.4 BRCA1 SP1 HNRNPL CREB1 GATAD2A ATF7 PRDM10 ZNF629 SIX5 IKZF1 DNMT1 PPAN ILF3 ENSG00000270614 ENSG00000267510 ZNF559 ANGPTL6 PPAN-P2RY11 ZNF699 KRI1
GH19J010180 Promoter 0.4 EPDnew 600.2 +50.9 50892 0.1 ZNF121 piR-43105-318 DNMT1 hsa-miR-5095-263 EIF3G
GH19J010166 Promoter 0.3 EPDnew 600.2 +64.6 64634 0.1 DNMT1 hsa-miR-5095-263 lnc-EIF3G-4 EIF3G
GH19J010415 Promoter/Enhancer 2.1 EPDnew FANTOM5 Ensembl ENCODE 81.4 -189.6 -189630 10.6 ZNF221 BRCA1 RNF2 ARHGAP35 SP1 HNRNPL CREB1 GATAD2A CTCF ATF7 PDE4A CDC37 ILF3 ZNF266 KRI1 LOC100419831 DNMT1 RAVER1 FBXL12 PPAN
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around DNMT1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for DNMT1

Top Transcription factor binding sites by QIAGEN in the DNMT1 gene promoter:
  • AML1a

Genomic Locations for DNMT1 Gene

Genomic Locations for DNMT1 Gene
chr19:10,133,345-10,231,286
(GRCh38/hg38)
Size:
97,942 bases
Orientation:
Minus strand
chr19:10,244,021-10,341,962
(GRCh37/hg19)
Size:
97,942 bases
Orientation:
Minus strand

Genomic View for DNMT1 Gene

Genes around DNMT1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DNMT1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DNMT1 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for DNMT1 Gene

Proteins for DNMT1 Gene

Products:

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  • Protein details for DNMT1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P26358-DNMT1_HUMAN
    Recommended name:
    DNA (cytosine-5)-methyltransferase 1
    Protein Accession:
    P26358
    Secondary Accessions:
    • A0AV63
    • B7ZLW6
    • Q9UHG5
    • Q9ULA2
    • Q9UMZ6

    Protein attributes for DNMT1 Gene

    Size:
    1616 amino acids
    Molecular mass:
    183165 Da
    Quaternary structure:
    • Homodimer (PubMed:19173286). Forms a stable complex with E2F1, BB1 and HDAC1 (PubMed:10888886). Forms a complex with DMAP1 and HDAC2, with direct interaction (PubMed:10888872). Interacts with the PRC2/EED-EZH2 complex (PubMed:16357870). Probably part of a corepressor complex containing ZNF304, TRIM28, SETDB1 and DNMT1 (PubMed:24623306). Interacts with UHRF1; promoting its recruitment to hemimethylated DNA (PubMed:21745816). Interacts with USP7, promoting its deubiquitination (PubMed:21745816). Interacts with PCNA (PubMed:9302295). Interacts with MBD2 and MBD3 (PubMed:10947852). Interacts with DNMT3A and DNMT3B (PubMed:12145218). Interacts with UBC9 (PubMed:19450230). Interacts with CSNK1D (By similarity). Interacts with HDAC1 (By similarity). Interacts with BAZ2A/TIP5 (By similarity). Interacts with SIRT7 (By similarity).
    SequenceCaution:
    • Sequence=AAD54507.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for DNMT1 Gene

    Alternative splice isoforms for DNMT1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for DNMT1 Gene

Protein Expression for DNMT1 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Selected DME Specific Peptides for DNMT1 Gene

P26358:
  • NRFTEDSLLRHAQFVV
  • TVFTEDCN
  • EMPSPKK
  • TLIPWCLPHTGNRHN
  • SKIVVEFLQ
  • RMGYQCTFG
  • GNAVPPPLA
  • FSGCGGL
  • LLKLVMAGE
  • KFYRPENTH
  • RTITVRDTMSDLP
  • LDDPDLK
  • YIKGSNLDAP
  • GGPPCQG
  • PGSDWRDLPNI
  • YSKFKNSL
  • FPEPLHVFAPRACQLSVVVDDKKFVSNITR
  • YQPILRDHICKDMS

Post-translational modifications for DNMT1 Gene

  • Sumoylated; sumoylation increases activity.
  • 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 activity.
  • 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 stability.
  • Methylation at Lys-142 by SETD7 promotes DNMT1 proteasomal degradation.
  • Ubiquitinated by UHRF1; interaction with USP7 counteracts ubiquitination by UHRF1 by promoting deubiquitination and preventing degradation by the proteasome.
  • Ubiquitination at Lys58, Lys88, Lys134, Lys586, Lys666, Lys928, Lys961, Lys981, Lys997, Lys1323, Lys1415, Lys1483, and Lys1572
  • Modification sites at PhosphoSitePlus

Other Protein References for DNMT1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for DNMT1 Gene

Gene Families for DNMT1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • FDA approved drug targets
  • Plasma proteins
  • Predicted intracellular proteins
  • Transcription factors

Protein Domains for DNMT1 Gene

InterPro:
Blocks:
  • Bromo adjacent region
  • C-5 cytosine-specific DNA methylase
  • Zn-finger, CXXC type
  • DMAP1-binding
ProtoNet:

Suggested Antigen Peptide Sequences for DNMT1 Gene

GenScript: Design optimal peptide antigens:
  • MCMT (DNMT1_HUMAN)
  • Cytosine-specific methyltransferase (F5GX68_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P26358

UniProtKB/Swiss-Prot:

DNMT1_HUMAN :
  • The N-terminal part is required for homodimerization and acts as a regulatory domain.
  • Belongs to the class I-like SAM-binding methyltransferase superfamily. C5-methyltransferase family.
Domain:
  • The N-terminal part is required for homodimerization and acts as a regulatory 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.
Family:
  • Belongs to the class I-like SAM-binding methyltransferase superfamily. C5-methyltransferase family.
genes like me logo Genes that share domains with DNMT1: view

Function for DNMT1 Gene

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  6. Cell Line

Molecular function for DNMT1 Gene

UniProtKB/Swiss-Prot 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. Probably forms a corepressor complex required for activated KRAS-mediated promoter hypermethylation and transcriptional silencing of tumor suppressor genes (TSGs) or other tumor-related genes in colorectal cancer (CRC) cells (PubMed:24623306). Also required to maintain a transcriptionally repressive state of genes in undifferentiated embryonic stem cells (ESCs) (PubMed:24623306). Associates at promoter regions of tumor suppressor genes (TSGs) leading to their gene silencing (PubMed:24623306). Promotes tumor growth (PubMed:24623306).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=a 2'-deoxycytidine in DNA + S-adenosyl-L-methionine = a 5-methyl-2'-deoxycytidine in DNA + H(+) + S-adenosyl-L-homocysteine; Xref=Rhea:RHEA:13681, Rhea:RHEA-COMP:11369, Rhea:RHEA-COMP:11370, ChEBI:CHEBI:15378, ChEBI:CHEBI:57856, ChEBI:CHEBI:59789, ChEBI:CHEBI:85452, ChEBI:CHEBI:85454; EC=2.1.1.37; Evidence={ECO:0000255|PROSITE-ProRule:PRU10018};.
UniProtKB/Swiss-Prot 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:
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 Numbers (IUBMB) for DNMT1 Gene

Phenotypes From GWAS Catalog for DNMT1 Gene

Gene Ontology (GO) - Molecular Function for DNMT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding IBA,IDA 18754681
GO:0003682 chromatin binding IEA --
GO:0003723 RNA binding IEA --
GO:0003886 DNA (cytosine-5-)-methyltransferase activity TAS,IDA 21745816
GO:0005515 protein binding IPI 16357870
genes like me logo Genes that share ontologies with DNMT1: view
genes like me logo Genes that share phenotypes with DNMT1: view

Human Phenotype Ontology for DNMT1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for DNMT1 Gene

MGI Knock Outs for DNMT1:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DNMT1

Clone Products

  • Addgene plasmids for DNMT1

No data available for Transcription Factor Targets and HOMER Transcription for DNMT1 Gene

Localization for DNMT1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DNMT1 Gene

Nucleus.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for DNMT1 gene
Compartment Confidence
nucleus 5
extracellular 3
mitochondrion 3
cytosol 3
plasma membrane 2
cytoskeleton 2
endoplasmic reticulum 2
lysosome 2
peroxisome 1
endosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for DNMT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000792 heterochromatin IEA --
GO:0005634 nucleus TAS,IBA 21873635
GO:0005654 nucleoplasm TAS --
GO:0005657 replication fork IEA --
GO:0005721 pericentric heterochromatin IEA --
genes like me logo Genes that share ontologies with DNMT1: view

Pathways & Interactions for DNMT1 Gene

genes like me logo Genes that share pathways with DNMT1: view

Pathways by source for DNMT1 Gene

1 GeneGo (Thomson Reuters) pathway for DNMT1 Gene
  • Methionine metabolism
1 Qiagen pathway for DNMT1 Gene
  • DNA Methylation and Transcriptional Repression
1 Cell Signaling Technology pathway for DNMT1 Gene

SIGNOR curated interactions for DNMT1 Gene

Activates:
Inactivates:
Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for DNMT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription by RNA polymerase II IEA --
GO:0006306 DNA methylation IEA,TAS 10888872
GO:0006325 chromatin organization IEA --
GO:0007265 Ras protein signal transduction IMP 24623306
GO:0010216 maintenance of DNA methylation IBA,IDA 18754681
genes like me logo Genes that share ontologies with DNMT1: view

Drugs & Compounds for DNMT1 Gene

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  1. Drug

(62) Drugs for DNMT1 Gene - From: DrugBank, ApexBio, DGIdb, HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Decitabine Approved, Investigational Pharma Target, inhibitor DNA methyltransferase inhibitor 388
Azacitidine Approved, Investigational Pharma Target, inhibitor 555
Procainamide Approved Pharma Target, other 14
Flucytosine Approved, Investigational Pharma Target, other 37
Procaine Approved, Investigational, Vet_approved Pharma Channel blocker, Target, inhibitor 52

(46) Additional Compounds for DNMT1 Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
s-adenosylmethionine
  • (3S)-5'-[(3-amino-3-Carboxypropyl)methylsulfonio]-5'-deoxyadenosine, inner salt
  • [1-(Adenin-9-yl)-1,5-dideoxy-beta-D-ribofuranos-5-yl][(3S)-3-amino-3-carboxypropyl](methyl)sulfonium
  • Acylcarnitine
  • AdoMet
  • S-(5'-Deoxyadenosin-5'-yl)-L-methionine
 485-80-3

(5) Tocris Compounds for DNMT1 Gene

Compound Action Cas Number
5-Azacytidine DNA methyltransferase inhibitor 320-67-2
Decitabine DNA methyltransferase inhibitor 2353-33-5
Lomeguatrib MGMT inhibitor 192441-08-0
RG 108 Non-nucleoside DNA methyltransferase inhibitor 48208-26-0
Zebularine DNA methyltransferase and cytidine deaminase inhibitor 3690-10-6

(7) ApexBio Compounds for DNMT1 Gene

Compound Action Cas Number
5-Azacytidine DNA methyltransferase inhibitor. 320-67-2
Decitabine (NSC127716, 5AZA-CdR) Deoxycytidine analog and cellular diifferentiation inducer 2353-33-5
Lomeguatrib MGMT inhibitor 192441-08-0
RG 108 DNA methyltransferase inhibitor 48208-26-0
SGI-1027 DNMT inhibitor 1020149-73-8
Thioguanine Purine antimetabolite 154-42-7
Zebularine DNA methylation inhibitor 3690-10-6
genes like me logo Genes that share compounds with DNMT1: view

Drug Products

Transcripts for DNMT1 Gene

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  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for DNMT1 Gene

4 REFSEQ mRNAs :
12 NCBI additional mRNA sequence :
28 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DNMT1

Clone Products

  • Addgene plasmids for DNMT1

Alternative Splicing Database (ASD) splice patterns (SP) for DNMT1 Gene

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:
SP6:
SP7:
SP8:
SP9:
SP10: -
SP11:
SP12:
SP13:
SP14:
SP15:
SP16:
SP17:
SP18:
SP19:
SP20:
SP21:
SP22:
SP23:

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:
SP6: -
SP7: - - - - - -
SP8:
SP9:
SP10:
SP11:
SP12: - -
SP13: - - - -
SP14: - - - -
SP15:
SP16:
SP17: - -
SP18: - -
SP19:
SP20:
SP21:
SP22:
SP23:

ExUns: 33a · 33b · 33c · 33d ^ 34 ^ 35a · 35b ^ 36 ^ 37 ^ 38
SP1: - - -
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:
SP15:
SP16: - -
SP17:
SP18:
SP19:
SP20: -
SP21:
SP22:
SP23: - - -

Relevant External Links for DNMT1 Gene

GeneLoc Exon Structure for
DNMT1

Expression for DNMT1 Gene

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  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for DNMT1 Gene

mRNA expression in normal human tissues for DNMT1 Gene
mRNA expression by GTEx for DNMT1 GenemRNA expression by BioGPS for DNMT1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for DNMT1 Gene

This gene is overexpressed in Nasal epithelium (10.3), Bone marrow mesenchymal stem cell (8.4), Lymph node (7.6), and Peripheral blood mononuclear cells (7.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for DNMT1 Gene



Protein tissue co-expression partners for DNMT1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for DNMT1

SOURCE GeneReport for Unigene cluster for DNMT1 Gene:

Hs.202672

mRNA Expression by UniProt/SwissProt for DNMT1 Gene:

P26358-DNMT1_HUMAN
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.

Evidence on tissue expression from TISSUES for DNMT1 Gene

  • Liver(4.6)
  • Nervous system(4.4)
  • Intestine(3.5)
  • Bone marrow(3.4)
  • Lymph node(3.4)
  • Blood(3.3)
  • Skin(3.2)
  • Lung(3)
  • Heart(2.9)
  • Kidney(2.9)
  • Spleen(2.8)
  • Stomach(2.8)
  • Muscle(2.8)
  • Pancreas(2.6)
  • Adrenal gland(2.4)
  • Thyroid gland(2.4)
  • Eye(2.4)

Phenotype-based relationships between genes and organs from Gene ORGANizer for DNMT1 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • immune
  • lymphatic
  • nervous
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cerebellum
  • head
  • jaw
  • mandible
  • maxilla
  • mouth
  • neck
  • skull
Thorax:
  • chest wall
  • clavicle
  • rib
  • rib cage
  • scapula
  • sternum
Pelvis:
  • pelvis
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • bone marrow
  • peripheral nerve
  • peripheral nervous system
  • spinal column
  • spinal cord
  • vertebrae
genes like me logo Genes that share expression patterns with DNMT1: view

No data available for mRNA differential expression in normal tissues for DNMT1 Gene

Orthologs for DNMT1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for DNMT1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia DNMT1 30 31
  • 99.37 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia DNMT1 30 31
  • 87.56 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia DNMT1 30 31
  • 86.55 (n)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia -- 31
  • 83 (a)
 OneToMany
-- 31
  • 43 (a)
 OneToMany
Rat
(Rattus norvegicus)
 Mammalia Dnmt1 30
  • 79.13 (n)
Mouse
(Mus musculus)
 Mammalia Dnmt1 30 17 31
  • 78.77 (n)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia DNMT1 31
  • 71 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves DNMT1 30 31
  • 75.16 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia DNMT1 31
  • 71 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia dnmt1 30
  • 70.64 (n)
Str.1757 30
Zebrafish
(Danio rerio)
 Actinopterygii dnmt1 30 31
  • 68.1 (n)
 OneToOne
Rainbow Trout
(Oncorhynchus mykiss)
 Actinopterygii Omy.1220 30
Thale Cress
(Arabidopsis thaliana)
 eudicotyledons MET1 30
  • 47.82 (n)
Rice
(Oryza sativa)
 Liliopsida Os03g0798300 30
  • 57.91 (n)
Os.30977 30
Barley
(Hordeum vulgare)
 Liliopsida Hv.11558 30
Wheat
(Triticum aestivum)
 Liliopsida Ta.9261 30
Corn
(Zea mays)
 Liliopsida Zm.16993 30
Sea Squirt
(Ciona savignyi)
 Ascidiacea -- 31
  • 56 (a)
 OneToOne
Sea Vase
(Ciona intestinalis)
 Ascidiacea Cin.12055 30
Species where no ortholog for DNMT1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Worm (Caenorhabditis elegans)

Evolution for DNMT1 Gene

ENSEMBL:
Gene Tree for DNMT1 (if available)
TreeFam:
Gene Tree for DNMT1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for DNMT1: view image

Paralogs for DNMT1 Gene

Paralogs for DNMT1 Gene

(51) SIMAP similar genes for DNMT1 Gene using alignment to 13 proteins:

  • DNMT1_HUMAN
  • F5GX68_HUMAN
  • I6L9H2_HUMAN
  • K7EIZ6_HUMAN
  • K7EJL0_HUMAN
  • K7EKC3_HUMAN
  • K7ELB1_HUMAN
  • K7EMU8_HUMAN
  • K7ENQ6_HUMAN
  • K7ENW7_HUMAN
  • K7EP77_HUMAN
  • K7ER10_HUMAN
  • K7ERQ1_HUMAN
genes like me logo Genes that share paralogs with DNMT1: view

Variants for DNMT1 Gene

Products:

  1. SNP Genotyping and Copy Number Assay

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for DNMT1 Gene

SNP ID Clinical significance and condition Chr 19 pos Variation AA Info Type
637074 Uncertain Significance: Charcot-Marie-Tooth disease 10,155,029(-) G/C MISSENSE_VARIANT
637075 Uncertain Significance: Charcot-Marie-Tooth disease 10,154,984(-) ATCT/A INFRAME_DELETION
637076 Uncertain Significance: Charcot-Marie-Tooth disease 10,154,712(-) T/C MISSENSE_VARIANT
638986 Uncertain Significance: Hereditary sensory neuropathy type IE 10,154,325(-) C/T MISSENSE_VARIANT
639423 Uncertain Significance: Hereditary sensory neuropathy type IE 10,146,409(-) C/A MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for DNMT1 Gene

Structural Variations from Database of Genomic Variants (DGV) for DNMT1 Gene

Variant ID Type Subtype PubMed ID
esv1001261 CNV deletion 20482838
esv2718168 CNV deletion 23290073
nsv833743 CNV loss 17160897

Variation tolerance for DNMT1 Gene

Residual Variation Intolerance Score: 0.97% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.24; 52.60% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for DNMT1 Gene

Human Gene Mutation Database (HGMD)
DNMT1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
DNMT1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DNMT1 Gene

Disorders for DNMT1 Gene

MalaCards: The human disease database

(63) MalaCards diseases for DNMT1 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search DNMT1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

DNMT1_HUMAN
  • Neuropathy, hereditary sensory, 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. {ECO:0000269 PubMed:21532572}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant (ADCADN) [MIM:604121]: An autosomal dominant neurologic disorder characterized by adult onset of progressive cerebellar ataxia, narcolepsy, cataplexy, sensorineural deafness, and dementia. More variable features include optic atrophy, sensory neuropathy, psychosis, and depression. {ECO:0000269 PubMed:22328086}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for DNMT1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with DNMT1: view

No data available for Genatlas for DNMT1 Gene

Publications for DNMT1 Gene

  1. Dimerization of DNA methyltransferase 1 is mediated by its regulatory domain. (PMID: 19173286) Fellinger K … Leonhardt H (Journal of cellular biochemistry 2009) 3 4 23
  2. A systematic search for DNA methyltransferase polymorphisms reveals a rare DNMT3L variant associated with subtelomeric hypomethylation. (PMID: 19246518) El-Maarri O … Chédin F (Human molecular genetics 2009) 3 23 41
  3. DNA methyltransferase 1 and 3B activate BAG-1 expression via recruitment of CTCFL/BORIS and modulation of promoter histone methylation. (PMID: 18413740) Sun L … Gius D (Cancer research 2008) 3 4 23
  4. CXXC domain of human DNMT1 is essential for enzymatic activity. (PMID: 18754681) Pradhan M … Pradhan S (Biochemistry 2008) 3 4 23
  5. The Polycomb group protein EZH2 directly controls DNA methylation. (PMID: 16357870) Viré E … Fuks F (Nature 2006) 3 4 23

ExternalLinks

View latest publications for DNMT1 gene in Mastermind

Products for DNMT1 Gene