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Aliases for DNMT1 Gene

Aliases for DNMT1 Gene

  • DNA Methyltransferase 1 2 3 5
  • DNA (Cytosine-5-)-Methyltransferase 1 2 3
  • CXXC-Type Zinc Finger Protein 9 3 4
  • DNA Methyltransferase HsaI 3 4
  • DNA MTase HsaI 3 4
  • EC 2.1.1.37 4 61
  • M.HsaI 3 4
  • CXXC9 3 4
  • DNMT 3 4
  • MCMT 3 4
  • AIM 3 4
  • DNA (Cytosine-5)-Methyltransferase 1 3
  • ADCADN 3
  • HSN1E 3
  • 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 Neuropathy, Hereditary Sensory, Type Ie and Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant. Among its related pathways are Regulation of retinoblastoma protein and Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3. GO annotations related to this gene include RNA binding and transcription factor binding.

UniProtKB/Swiss-Prot 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

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DNMT1 Gene

Genomics for DNMT1 Gene

Regulatory Elements for DNMT1 Gene

Enhancers for DNMT1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH19G010875 1.9 FANTOM5 Ensembl ENCODE dbSUPER 5.2 -646.8 -646787 4.9 HDGF PKNOX1 FOXA2 MLX CREB3L1 ARNT WRNIP1 ARID4B DMAP1 YY1 ZNF627 C19orf38 HNRNPA1P10 SMARCA4 ZNF439 ZNF823 DNMT1 CARM1 PIR43209
GH19G010241 0.6 FANTOM5 2.3 -10.6 -10594 0.4 CTCF POLR2A SMAD5 SP2 RBBP5 ZBTB33 RDH8 COL5A3 MRPL4 RAVER1 PPAN DNMT1 ILF3 KRI1 S1PR2
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around DNMT1 on UCSC Golden Path with GeneCards custom track

Promoters for DNMT1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000106973 386 1801 ATF1 AGO1 WRNIP1 ARID4B BRCA1 GLIS2 KDM4B ZNF263 SP3 SP5

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

Genomic Location for DNMT1 Gene

Chromosome:
19
Start:
10,133,345 bp from pter
End:
10,231,286 bp from pter
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 StructureGene Density

RefSeq DNA sequence for DNMT1 Gene

Proteins for DNMT1 Gene

  • 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).
    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

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

  • 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.
  • Methylation at Lys-142 by SETD7 promotes DNMT1 proteasomal degradation.
  • 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.
  • Sumoylated; sumoylation increases activity.
  • Ubiquitinated by UHRF1; interaction with USP7 counteracts ubiquitination by UHRF1 by promoting deubiquitination and preventing degradation by the proteasome.
  • Ubiquitination at isoforms=258, isoforms=288, Lys134, Lys586, Lys666, Lys928, isoforms=2, 3961, Lys981, isoforms=2, 3997, Lys1323, Lys1415, Lys1483, and isoforms=2, 31572
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for DNMT1 (DNMT1)
  • Abcam antibodies for DNMT1

Domains & Families for DNMT1 Gene

Suggested Antigen Peptide Sequences for DNMT1 Gene

GenScript: Design optimal peptide antigens:

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

Molecular function for DNMT1 Gene

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
UniProtKB/Swiss-Prot CatalyticActivity:
S-adenosyl-L-methionine + DNA = S-adenosyl-L-homocysteine + DNA containing 5-methylcytosine.
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 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.

Enzyme Numbers (IUBMB) for DNMT1 Gene

Gene Ontology (GO) - Molecular Function for DNMT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding 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

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

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 2
mitochondrion 2
cytosol 2
cytoskeleton 1

Gene Ontology (GO) - Cellular Components for DNMT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000792 heterochromatin IEA --
GO:0005634 nucleus IDA,TAS 16791210
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

SIGNOR curated interactions for DNMT1 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for DNMT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription from RNA polymerase II promoter IEA --
GO:0006306 DNA methylation TAS 10888872
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0007265 Ras protein signal transduction IMP 24623306
genes like me logo Genes that share ontologies with DNMT1: view

Drugs & Compounds for DNMT1 Gene

(59) 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 inhibitor, Target DNA methyltransferase inhibitor 244
Azacitidine Approved, Investigational Pharma inhibitor, Target 529
Procainamide Approved Pharma Target, other 12
Flucytosine Approved Pharma Target, other 25
S-Adenosylmethionine Approved Nutra 0

(49) Additional Compounds for DNMT1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs

(5) Tocris Compounds for DNMT1 Gene

Compound Action Cas Number
5-Azacytidine DNA methyltransferase inhibitor 320-67-2
5-Iodotubercidin Potent adenosine kinase inhibitor; also inhibits nucleoside transporters and a range of other kinases 24386-93-4
Decitabine DNA methyltransferase inhibitor 2353-33-5
RG 108 Non-nucleoside DNA methyltransferase inhibitor 48208-26-0
Zebularine DNA methyltransferase and cytidine deaminase inhibitor 3690-10-6

(8) 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
SGI-110 DNA methyltransferases inhibitor,potent 929901-49-5
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

mRNA/cDNA for DNMT1 Gene

(4) REFSEQ mRNAs :
(7) Additional mRNA sequences :
(1) Selected AceView cDNA sequences:
(29) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for DNMT1 Gene

DNA (cytosine-5-)-methyltransferase 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

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
ECgene alternative splicing isoforms for
DNMT1

Expression for DNMT1 Gene

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



Protein tissue co-expression partners for DNMT1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of DNMT1 Gene:

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(4.5)
  • Nervous system(4.1)
  • Intestine(3)
  • Bone marrow(2.8)
  • Blood(2.6)
  • Lymph node(2.6)
  • Lung(2.5)
  • Skin(2.2)
  • Stomach(2.1)

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

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • immune
  • lymphatic
  • nervous
  • skeletal muscle
  • skeleton
Organs:
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

Primer Products

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 34 35
  • 99.37 (n)
dog
(Canis familiaris)
Mammalia DNMT1 34 35
  • 87.56 (n)
cow
(Bos Taurus)
Mammalia DNMT1 34 35
  • 86.55 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 83 (a)
OneToMany
-- 35
  • 43 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Dnmt1 34
  • 79.13 (n)
mouse
(Mus musculus)
Mammalia Dnmt1 34 16 35
  • 78.77 (n)
oppossum
(Monodelphis domestica)
Mammalia DNMT1 35
  • 71 (a)
OneToOne
chicken
(Gallus gallus)
Aves DNMT1 34 35
  • 75.16 (n)
lizard
(Anolis carolinensis)
Reptilia DNMT1 35
  • 71 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia dnmt1 34
  • 70.64 (n)
Str.1757 34
zebrafish
(Danio rerio)
Actinopterygii dnmt1 34 35
  • 68.1 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.1220 34
thale cress
(Arabidopsis thaliana)
eudicotyledons MET1 34
  • 47.82 (n)
rice
(Oryza sativa)
Liliopsida Os03g0798300 34
  • 57.91 (n)
Os.30977 34
barley
(Hordeum vulgare)
Liliopsida Hv.11558 34
wheat
(Triticum aestivum)
Liliopsida Ta.9261 34
corn
(Zea mays)
Liliopsida Zm.16993 34
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 56 (a)
OneToOne
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.12055 34
Species where no ortholog for DNMT1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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)

Paralogs for DNMT1 Gene

No data available for Paralogs for DNMT1 Gene

Variants for DNMT1 Gene

Sequence variations from dbSNP and Humsavar for DNMT1 Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type
rs199473690 Pathogenic, Neuropathy, hereditary sensory, 1E (HSN1E) [MIM:614116] 10,155,017(-) CGAGT(A/G)TGCGC reference, missense
rs397509391 Pathogenic, Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant (ADCADN) [MIM:604121] 10,154,602(-) CTGGG(G/T)TCACG reference, missense
rs397509392 Pathogenic, Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant (ADCADN) [MIM:604121] 10,154,709(-) ACACG(C/G/T)GCAGT reference, missense
rs397509393 Pathogenic, Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant (ADCADN) [MIM:604121] 10,154,604(-) GGCTG(C/G)GGTCA reference, missense
rs199473692 Pathogenic 10,155,018(-) CCGAG(C/T)ATGCG reference, missense

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)

Relevant External Links for DNMT1 Gene

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

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

Disorders for DNMT1 Gene

MalaCards: The human disease database

(18) MalaCards diseases for DNMT1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
neuropathy, hereditary sensory, type ie
  • hereditary sensory neuropathy type 1
cerebellar ataxia, deafness, and narcolepsy, autosomal dominant
  • autosomal dominant cerebellar ataxia, deafness and narcolepsy
dnmt1-related dementia, deafness, and sensory neuropathy
  • hereditary sensoryautonomic neuropathy type 1 with dementiahearing loss
cerebellar ataxia
  • hemosiderosis, systemic, due to aceruloplasminemia
narcolepsy
  • narcolepsy, without cataplexy
- 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
  • 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.
  • 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.

Relevant External Links for DNMT1

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

No data available for Genatlas for DNMT1 Gene

Publications for DNMT1 Gene

  1. CXXC domain of human DNMT1 is essential for enzymatic activity. (PMID: 18754681) Pradhan M. … Pradhan S. (Biochemistry 2008) 3 4 22 64
  2. Association analyses of DNA methyltransferase-1 (DNMT1) polymorphisms with systemic lupus erythematosus. (PMID: 15375672) Park B.L. … Bae S.C. (J. Hum. Genet. 2004) 3 22 46 64
  3. Characterization of the human DNA methyltransferase splice variant Dnmt1b. (PMID: 10753866) Bonfils C. … MacLeod A.R. (J. Biol. Chem. 2000) 3 4 22 64
  4. Isolation and characterization of the cDNA encoding human DNA methyltransferase. (PMID: 1594447) Yen R.-W.C. … Baylin S.B. (Nucleic Acids Res. 1992) 2 3 4 64
  5. A KRAS-directed transcriptional silencing pathway that mediates the CpG island methylator phenotype. (PMID: 24623306) Serra R.W. … Green M.R. (Elife 2014) 3 4 64

Products for DNMT1 Gene

  • Addgene plasmids for DNMT1

Sources for DNMT1 Gene

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