Human Gene DNMT1 (uc010xlc.2)
Description: Homo sapiens DNA (cytosine-5-)-methyltransferase 1 (DNMT1), transcript variant 1, mRNA.
RefSeq Summary (NM_001130823): 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].
Transcript (Including UTRs)
Position: hg19 chr19:10,244,022-10,305,755 Size: 61,734 Total Exon Count: 41 Strand: -
Coding Region
Position: hg19 chr19:10,244,343-10,305,575 Size: 61,233 Coding Exon Count: 41
Data last updated at UCSC: 2013-06-14
Sequence and Links to Tools and Databases
Primer design for this transcript
Genetic Association Studies of Complex Diseases and Disorders
Genetic Association Database (archive): DNMT1
CDC HuGE Published Literature: DNMT1
MalaCards Disease Associations
MalaCards Gene Search: DNMT1
Diseases sorted by gene-association score: neuropathy, hereditary sensory, type ie * (1669), cerebellar ataxia, deafness, and narcolepsy, autosomal dominant * (1587), dnmt1-related dementia, deafness, and sensory neuropathy * (500), hereditary sensory and autonomic neuropathy type 1e * (283), narcolepsy (24), cerebellar ataxia (18), systemic lupus erythematosus 15 (13), immunodeficiency-centromeric instability-facial anomalies syndrome (11), neuropathy (8), ataxia (5), colorectal cancer (5), mutagen sensitivity (5), myelodysplastic syndrome (4), ectopic cushing syndrome (4), bipolar disorder (4), lung cancer (3), hematologic cancer (3), nasopharyngeal carcinoma (3), hepatocellular carcinoma (2), mood disorder (2), testicular germ cell tumor (2), schizophrenia (1), leukemia, acute myeloid (1)* = Manually curated disease association
Comparative Toxicogenomics Database (CTD)
Common Gene Haplotype Alleles
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RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
Microarray Expression Data
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mRNA Secondary Structure of 3' and 5' UTRs
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
Protein Domain and Structure Information
Pfam Domains: PF00145 - C-5 cytosine-specific DNA methylase
PF01426 - BAH domain
PF02008 - CXXC zinc finger domain
PF06464 - DMAP1-binding Domain
PF12047 - Cytosine specific DNA methyltransferase replication foci domain
SCOP Domains: 53335 - S-adenosyl-L-methionine-dependent methyltransferases
ModBase Predicted Comparative 3D Structure on P26358-2
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.
Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Descriptions from all associated GenBank mRNAs
AK122759 - Homo sapiens cDNA FLJ16293 fis, clone OCBBF2021518, highly similar to DNA (cytosine-5)-methyltransferase 1 (EC 2.1.1.37).BC092517 - Homo sapiens DNA (cytosine-5-)-methyltransferase 1, mRNA (cDNA clone MGC:104992 IMAGE:3077831), complete cds.LF384518 - JP 2014500723-A/192021: Polycomb-Associated Non-Coding RNAs.AF180682 - Homo sapiens DNA (cytosine-5)-methyltransferase mRNA, complete cds.X63692 - H.sapiens mRNA for DNA (cytosin-5)-methyltransferase.AB209413 - Homo sapiens mRNA for DNA (cytosine-5-)-methyltransferase 1 variant, partial cds.JD500579 - Sequence 481603 from Patent EP1572962.JD283861 - Sequence 264885 from Patent EP1572962.BC126227 - Homo sapiens DNA (cytosine-5-)-methyltransferase 1, mRNA (cDNA clone MGC:161505 IMAGE:8991943), complete cds.BC144093 - Homo sapiens DNA (cytosine-5-)-methyltransferase 1, mRNA (cDNA clone MGC:177630 IMAGE:9052613), complete cds.JD324054 - Sequence 305078 from Patent EP1572962.AB384943 - Synthetic construct DNA, clone: pF1KB4396, Homo sapiens DNMT1 gene for DNA (cytosine-5)-methyltransferase 1, complete cds, without stop codon, in Flexi system.LF375726 - JP 2014500723-A/183229: Polycomb-Associated Non-Coding RNAs.LF375727 - JP 2014500723-A/183230: Polycomb-Associated Non-Coding RNAs.LF375728 - JP 2014500723-A/183231: Polycomb-Associated Non-Coding RNAs.LF375729 - JP 2014500723-A/183232: Polycomb-Associated Non-Coding RNAs.LF375731 - JP 2014500723-A/183234: Polycomb-Associated Non-Coding RNAs.LF375732 - JP 2014500723-A/183235: Polycomb-Associated Non-Coding RNAs.LF375733 - JP 2014500723-A/183236: Polycomb-Associated Non-Coding RNAs.LF375734 - JP 2014500723-A/183237: Polycomb-Associated Non-Coding RNAs.LF375735 - JP 2014500723-A/183238: Polycomb-Associated Non-Coding RNAs.LF375736 - JP 2014500723-A/183239: Polycomb-Associated Non-Coding RNAs.LF375737 - JP 2014500723-A/183240: Polycomb-Associated Non-Coding RNAs.LF375738 - JP 2014500723-A/183241: Polycomb-Associated Non-Coding RNAs.LF375739 - JP 2014500723-A/183242: Polycomb-Associated Non-Coding RNAs.LF375740 - JP 2014500723-A/183243: Polycomb-Associated Non-Coding RNAs.LF375741 - JP 2014500723-A/183244: Polycomb-Associated Non-Coding RNAs.LF375742 - JP 2014500723-A/183245: Polycomb-Associated Non-Coding RNAs.LF375743 - JP 2014500723-A/183246: Polycomb-Associated Non-Coding RNAs.LF375745 - JP 2014500723-A/183248: Polycomb-Associated Non-Coding RNAs.LF375746 - JP 2014500723-A/183249: Polycomb-Associated Non-Coding RNAs.AY927518 - Homo sapiens mRNA sequence.LF375748 - JP 2014500723-A/183251: Polycomb-Associated Non-Coding RNAs.LF375750 - JP 2014500723-A/183253: Polycomb-Associated Non-Coding RNAs.LF375751 - JP 2014500723-A/183254: Polycomb-Associated Non-Coding RNAs.LF375752 - JP 2014500723-A/183255: Polycomb-Associated Non-Coding RNAs.LF375753 - JP 2014500723-A/183256: Polycomb-Associated Non-Coding RNAs.AF290894 - Homo sapiens DNA (cytosine-5) methyltransferase isoform 1C (DNMT1) mRNA, partial sequence, alternatively spliced.LF375754 - JP 2014500723-A/183257: Polycomb-Associated Non-Coding RNAs.LF375755 - JP 2014500723-A/183258: Polycomb-Associated Non-Coding RNAs.LF375756 - JP 2014500723-A/183259: Polycomb-Associated Non-Coding RNAs.JD129472 - Sequence 110496 from Patent EP1572962.MA620095 - JP 2018138019-A/192021: Polycomb-Associated Non-Coding RNAs.MA611303 - JP 2018138019-A/183229: Polycomb-Associated Non-Coding RNAs.MA611304 - JP 2018138019-A/183230: Polycomb-Associated Non-Coding RNAs.MA611305 - JP 2018138019-A/183231: Polycomb-Associated Non-Coding RNAs.MA611306 - JP 2018138019-A/183232: Polycomb-Associated Non-Coding RNAs.MA611308 - JP 2018138019-A/183234: Polycomb-Associated Non-Coding RNAs.MA611309 - JP 2018138019-A/183235: Polycomb-Associated Non-Coding RNAs.MA611310 - JP 2018138019-A/183236: Polycomb-Associated Non-Coding RNAs.MA611311 - JP 2018138019-A/183237: Polycomb-Associated Non-Coding RNAs.MA611312 - JP 2018138019-A/183238: Polycomb-Associated Non-Coding RNAs.MA611313 - JP 2018138019-A/183239: Polycomb-Associated Non-Coding RNAs.MA611314 - JP 2018138019-A/183240: Polycomb-Associated Non-Coding RNAs.MA611315 - JP 2018138019-A/183241: Polycomb-Associated Non-Coding RNAs.MA611316 - JP 2018138019-A/183242: Polycomb-Associated Non-Coding RNAs.MA611317 - JP 2018138019-A/183243: Polycomb-Associated Non-Coding RNAs.MA611318 - JP 2018138019-A/183244: Polycomb-Associated Non-Coding RNAs.MA611319 - JP 2018138019-A/183245: Polycomb-Associated Non-Coding RNAs.MA611320 - JP 2018138019-A/183246: Polycomb-Associated Non-Coding RNAs.MA611322 - JP 2018138019-A/183248: Polycomb-Associated Non-Coding RNAs.MA611323 - JP 2018138019-A/183249: Polycomb-Associated Non-Coding RNAs.MA611325 - JP 2018138019-A/183251: Polycomb-Associated Non-Coding RNAs.MA611327 - JP 2018138019-A/183253: Polycomb-Associated Non-Coding RNAs.MA611328 - JP 2018138019-A/183254: Polycomb-Associated Non-Coding RNAs.MA611329 - JP 2018138019-A/183255: Polycomb-Associated Non-Coding RNAs.MA611330 - JP 2018138019-A/183256: Polycomb-Associated Non-Coding RNAs.MA611331 - JP 2018138019-A/183257: Polycomb-Associated Non-Coding RNAs.MA611332 - JP 2018138019-A/183258: Polycomb-Associated Non-Coding RNAs.MA611333 - JP 2018138019-A/183259: Polycomb-Associated Non-Coding RNAs.
Biochemical and Signaling Pathways
Other Names for This Gene
GeneReviews for This Gene
GeneReviews article(s) related to gene DNMT1:dnmt1-ddsn (DNMT1-Related Disorder)
Gene Model Information
category:
coding
nonsense-mediated-decay:
no
RNA accession:
NM_001130823.1
exon count:
41 CDS single in 3' UTR:
no
RNA size:
5425
ORF size:
4899 CDS single in intron:
no
Alignment % ID:
100.00
txCdsPredict score:
9432.00 frame shift in genome:
no
% Coverage:
99.54
has start codon:
yes
stop codon in genome:
no
# of Alignments:
1
has end codon:
yes
retained intron:
no
# AT/AC introns
0
selenocysteine:
no
end bleed into intron:
0 # strange splices:
0
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Methods, Credits, and Use Restrictions
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for details on how this gene model was made and data restrictions if any.