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DNMT1 DNA (cytosine-5-)-methyltransferase 1 [ Homo sapiens (human) ]

Gene ID: 1786, updated on 22-May-2013

Summary

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Official Symbol: DNMT1provided by HGNC
Official Full Name: DNA (cytosine-5-)-methyltransferase 1provided by HGNC
Primary source: HGNC:2976
See related: Ensembl:ENSG00000130816; HPRD:00532; MIM:126375; Vega:OTTHUMG00000180397
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: AIM; DNMT; MCMT; CXXC9; HSN1E
Summary: 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]

Genomic context

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Location :: 19p13.2

Sequence :: Chromosome: 19; NC_000019.9 (10244022..10305755, complement)

See DNMT1 in Epigenomics, MapViewer

Chromosome 19 - NC_000019.9 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

Bibliography

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GeneRIFs: Gene References Into Functions What's a GeneRIF?

results indicate DNMT1 is essential for maintenance of colon cancer stem-like cells/cancer-initiating cells and short-term suppression of DNMT1 might be sufficient to disrupt cancer stem-like cells/cancer-initiating cells
Title: DNA methyltransferase 1 is essential for initiation of the colon cancers.
DNMT1 mutations in patients presenting with familial frontotemporal dementia or primary memory decline may also have sensory neuropathy and hearing loss, or phenotype for narcolepsy.
Title: DNMT1 mutation hot spot causes varied phenotypes of HSAN1 with dementia and hearing loss.
Results suggested that SNPs of DNMT1 could be used as genotypic markers for predicting genetic susceptibilities to H.pylori infection and risks in gastric atrophy.
Title: Polymorphisms of the DNA methyltransferase 1 associated with reduced risks of Helicobacter pylori infection and increased risks of gastric atrophy.
HBP1 represses the DNMT1 gene through binding a high-affinity site in the DNMT1 promoter.
Title: HBP1-mediated transcriptional regulation of DNA methyltransferase 1 and its impact on cell senescence.
Upregulation of DNMT1 is associated with neoplastic transformation.
Title: MicroRNA-152 targets DNA methyltransferase 1 in NiS-transformed cells via a feedback mechanism.
Data suggest that LSD1 (lysine-specific demethylase 1) is critical in the regulation of cell proliferation, but not an absolute requirement for the stabilization of either p53 or DNMT1(DNA methyltransferase 1).
Title: Loss of LSD1 (lysine-specific demethylase 1) suppresses growth and alters gene expression of human colon cancer cells in a p53- and DNMT1(DNA methyltransferase 1)-independent manner.
The DNMT1+32204GG genotype correlates with DNA hypomethylation.
Title: Association of polymorphisms in DNMT1, DNMT3A, DNMT3B, MTHFR and MTRR genes with global DNA methylation levels and prognosis of autoimmune thyroid disease.
increased Dnmt1 expression in DDX20-deficient cells hypermethylated the promoters of metallothionein genes, resulting in decreased metallothionein expression leading to enhanced NF-kappaB activity
Title: MicroRNA-140 acts as a liver tumor suppressor by controlling NF-κB activity by directly targeting DNA methyltransferase 1 (Dnmt1) expression.
these data demonstrated for the first time that ERalpha could upregulate DNMT1 expression by directly binding to the DNMT1 promoter region in MFC-7(ER )/PTX cells.
Title: ERα positively regulated DNMT1 expression by binding to the gene promoter region in human breast cancer MCF-7 cells.
induction of DNMT1 expression in the chronically inflamed colon may release IL-6 signaling towards signal transducer and activator of transcription 3 from inhibition through SOCS3 increasing the propensity to malignant transformation.
Title: IL-6-induced DNMT1 activity mediates SOCS3 promoter hypermethylation in ulcerative colitis-related colorectal cancer.

Submit: New GeneRIF Correction See all (203)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

NEUROPATHY, HEREDITARY SENSORY, TYPE IE

MIM: 614116

Genetic Testing Registry

Summary from GeneReviews: Loeys-Dietz Syndrome

Loeys-Dietz syndrome (LDS) is characterized by vascular findings (cerebral, thoracic, and abdominal arterial aneurysms and/or dissections) and skeletal manifestations (pectus excavatum or pectus carinatum, scoliosis, joint laxity, arachnodactyly, talipes equinovarus). Approximately 75% of affected individuals have LDS type I with craniofacial manifestations (ocular hypertelorism, bifid uvula/cleft palate, craniosynostosis); approximately 25% have LDS type II with cutaneous manifestations (velvety and translucent skin; easy bruising; widened, atrophic scars). LDSI and LDSII form a clinical continuum. The natural history of LDS is characterized by aggressive arterial aneurysms (mean age at death 26.1 years) and high incidence of pregnancy-related complications including death and uterine rupture.

Diagnosis Testing

The diagnosis of LDS is based on characteristic clinical findings in the proband and family members and molecular genetic testing of TGFBR1 and TGFBR2, the only two genes known to be associated with LDS. Such testing is available on a clinical basis. No differences in phenotype are observed between individuals with mutations in TGFBR1 and TGFBR2.

Genetic Counseling

LDS is inherited in an autosomal dominant manner. Approximately 25% of individuals diagnosed with LDS have an affected parent; approximately 75% of probands have LDS as the result of a de novo gene mutation. Each child of an individual with LDS has a 50% chance of inheriting the mutation and the disorder. Prenatal diagnosis for pregnancies at increased risk for LDS is possible if the disease-causing mutation in the family is known.

References

PMID: 20301312

Summary from GeneReviews: DNMT1-Related Dementia, Deafness, and Sensory Neuropathy

Disease Characteristics

DNMT1-related dementia, deafness, and sensory neuropathy (HSAN IE) is a degenerative disorder of the central and peripheral nervous systems characterized by sensory impairment of the distal lower extremities, loss of sweating (sudomotor function) on the distal aspects of the upper and lower limbs, sensorineural hearing loss, and dementia. Affected persons are normal in their youth but begin to manifest progressive sensory neuropathy and moderate to severe progressive sensorineural deafness by age 20 to 35 years. The sensory alterations result in gait unsteadiness from sensory ataxia and mutilating ulcers and/or amputations of distal extremities in approximately 50% of affected persons. Dementia usually manifests by the fourth decade.

Diagnosis Testing

The diagnosis is based on clinical findings and molecular genetic testing of DNMT1, the only gene in which mutations are known to cause HSAN IE. Molecular genetic testing is available.

Genetic Counseling

HSAN IE is inherited in an autosomal dominant manner. The proportion of HSAN IE caused by de novo mutations is unknown. Each child of an individual with HSAN IE has a 50% chance of inheriting the disease-causing mutation. No laboratories offering prenatal diagnosis of HSAN IE are listed in the GeneTeststrade mark Laboratory Directory; however, such testing may be available through laboratories offering custom prenatal testing for families in which the disease-causing mutation has been identified.

References

PMID: 22338191

Interactions

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Products	Interactant	Other Gene	Source	Pubs	Description
NP_001370.1	NP_061973.1	DMAP1	BIND	PubMed	DNMT1 interacts with DMAP1.
NP_001370.1	NP_783328.1	DNMT3A	BIND	PubMed	hDNMT3a interacts with hDNMT1.
NP_001370.1	NP_008823.1	DNMT3B	BIND	PubMed	hDNMT3b interacts with hDNMT1.
NP_001370.1		DNMT3B	BIND	PubMed	DNMT3B interacts with DNMT1.
NP_001370.1	NP_001518.1	HDAC2	BIND	PubMed	DNMT1 interacts with HDAC2.
NP_001370.1	NP_002583.1	PCNA	BIND	PubMed	DNMT1 is a PCNA-binding protein
NP_001370.1	NC_000003.9	RARB	BIND	PubMed	DNMT1 interacts with RARB (RAR-beta-2) gene promoter sequences.
NP_001370.1	NP_000312.1	RB1	BIND	PubMed	Rb interacts with hDnmt1.
P26358	P83916	CBX1	HPRD	PubMed
P26358	Q9UER7	DAXX	HPRD	PubMed
P26358	Q9NPF5	DMAP1	HPRD	PubMed
P26358	P26358	DNMT1	HPRD	PubMed
P26358	Q9Y6K1	DNMT3A	HPRD	PubMed
P26358	Q9UBC3	DNMT3B	HPRD	PubMed
P26358	P63167	DYNLL1	HPRD	PubMed
P26358	Embryonic ectoderm development	EED	HPRD	PubMed
P26358	Q15910	EZH2	HPRD	PubMed
P26358	Q13547	HDAC1	HPRD	PubMed
P26358	Q92769	HDAC2	HPRD	PubMed
P26358	P09429	HMGB1	HPRD	PubMed
P26358	P12004	PCNA	HPRD	PubMed
P26358	P06400	RB1	HPRD	PubMed
P26358	O43463	SUV39H1	HPRD	PubMed
P26358	P14373	TRIM27	HPRD	PubMed
P26358	Q99816	TSG101	HPRD	PubMed
BioGRID:108123	BioGRID:106710	AKT1	BioGRID	PubMed	Affinity Capture-Western; Biochemical Activity; Reconstituted Complex
BioGRID:108123	BioGRID:116346	BAZ2A	BioGRID	PubMed	Reconstituted Complex
BioGRID:108123	BioGRID:116151	CBX1	BioGRID	PubMed	Reconstituted Complex
BioGRID:108123	BioGRID:117030	CBX5	BioGRID	PubMed	Affinity Capture-Western
BioGRID:108123	BioGRID:117028	CBX6	BioGRID	PubMed	Affinity Capture-MS
BioGRID:108123	BioGRID:107533	CHD4	BioGRID	PubMed	Affinity Capture-Western
BioGRID:108123	BioGRID:107536	CHEK1	BioGRID	PubMed	Affinity Capture-Western
BioGRID:108123	BioGRID:107843	CSNK2B	BioGRID	PubMed	Two-hybrid
BioGRID:108123	BioGRID:119045	CXXC1	BioGRID	PubMed	Affinity Capture-Western
BioGRID:108123	BioGRID:107985	DAXX	BioGRID	PubMed	Affinity Capture-Western
BioGRID:108123	BioGRID:121004	DMAP1	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex; Two-hybrid
BioGRID:108123	BioGRID:108123	DNMT1	BioGRID	PubMed	Affinity Capture-Western
BioGRID:108123	BioGRID:108125	DNMT3A	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex
BioGRID:108123	BioGRID:108126	DNMT3B	BioGRID	PubMed	Affinity Capture-Western; Phenotypic Suppression; Reconstituted Complex
BioGRID:108123	BioGRID:199230	Dlg4	BioGRID	PubMed	Protein-peptide
BioGRID:108123	BioGRID:108201	E2F1	BioGRID	PubMed	Co-fractionation
BioGRID:108123	BioGRID:114265	EED	BioGRID	PubMed	Affinity Capture-Western; Co-localization
BioGRID:108123	BioGRID:116123	EHMT2	BioGRID	PubMed	Affinity Capture-Western
BioGRID:108123	BioGRID:108446	EZH2	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex
BioGRID:108123	BioGRID:108014	GADD45A	BioGRID	PubMed	Affinity Capture-Western
BioGRID:108123	BioGRID:109187	GSK3B	BioGRID	PubMed	Two-hybrid
BioGRID:108123	BioGRID:109315	HDAC1	BioGRID	PubMed	Affinity Capture-Western; Co-fractionation; Co-localization; Reconstituted Complex
BioGRID:108123	BioGRID:109316	HDAC2	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex; Two-hybrid
BioGRID:108123	BioGRID:114368	HDAC3	BioGRID	PubMed	Affinity Capture-Western
BioGRID:108123	BioGRID:109320	HELLS	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex
BioGRID:108123	BioGRID:32711	HHT1	BioGRID	PubMed	Affinity Capture-Western
BioGRID:108123	BioGRID:35796	HHT2	BioGRID	PubMed	Affinity Capture-Western
BioGRID:108123	BioGRID:109540	HSPA4	BioGRID	PubMed	Affinity Capture-MS
BioGRID:108123	BioGRID:109541	HSPA5	BioGRID	PubMed	Affinity Capture-MS
BioGRID:108123	BioGRID:115779	KAT5	BioGRID	PubMed	Affinity Capture-Western
BioGRID:108123	BioGRID:116667	KDM1A	BioGRID	PubMed	Affinity Capture-Western
BioGRID:108123	BioGRID:115114	KIAA0101	BioGRID	PubMed	Affinity Capture-MS
BioGRID:108123	BioGRID:114445	MBD2	BioGRID	PubMed	Affinity Capture-Western
BioGRID:108123	BioGRID:119788	MBD3	BioGRID	PubMed	Affinity Capture-Western
BioGRID:108123	BioGRID:110368	MECP2	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex
BioGRID:108123	BioGRID:114562	MTA1	BioGRID	PubMed	Affinity Capture-Western
BioGRID:108123	BioGRID:114652	MTA2	BioGRID	PubMed	Affinity Capture-Western
BioGRID:108123	BioGRID:113033	NR2C1	BioGRID	PubMed	Affinity Capture-MS; Affinity Capture-Western
BioGRID:108123	BioGRID:113034	NR2C2	BioGRID	PubMed	Affinity Capture-Western
BioGRID:108123	BioGRID:111142	PCNA	BioGRID	PubMed	Affinity Capture-Western; Protein-peptide; Reconstituted Complex
BioGRID:108123	BioGRID:115940	POLD3	BioGRID	PubMed	Affinity Capture-Western
BioGRID:108123	BioGRID:111820	RAD9A	BioGRID	PubMed	Affinity Capture-Western
BioGRID:108123	BioGRID:111860	RB1	BioGRID	PubMed	Affinity Capture-Western; Co-fractionation; Reconstituted Complex
BioGRID:108123	BioGRID:111863	RBBP4	BioGRID	PubMed	Affinity Capture-Western
BioGRID:108123	BioGRID:114987	RGS6	BioGRID	PubMed	Reconstituted Complex
BioGRID:108123	BioGRID:118144	RPS6KA6	BioGRID	PubMed	Two-hybrid
BioGRID:108123	BioGRID:107309	RUNX1	BioGRID	PubMed	Affinity Capture-Western; Co-localization; Two-hybrid
BioGRID:108123	BioGRID:107310	RUNX1T1	BioGRID	PubMed	Affinity Capture-Western; Co-localization; Two-hybrid
BioGRID:108123	BioGRID:123332	SETD7	BioGRID	PubMed	Affinity Capture-Western; Biochemical Activity; Co-crystal Structure
BioGRID:108123	BioGRID:119029	SH3KBP1	BioGRID	PubMed	Affinity Capture-MS
BioGRID:108123	BioGRID:116983	SIRT1	BioGRID	PubMed	Affinity Capture-Western; Biochemical Activity
BioGRID:108123	BioGRID:119602	SIRT7	BioGRID	PubMed	Affinity Capture-MS
BioGRID:108123	BioGRID:114045	SMARCA5	BioGRID	PubMed	Affinity Capture-Western
BioGRID:108123	BioGRID:112521	SNRPG	BioGRID	PubMed	Affinity Capture-MS
BioGRID:108123	BioGRID:112550	SP1	BioGRID	PubMed	Affinity Capture-Western
BioGRID:108123	BioGRID:112553	SP3	BioGRID	PubMed	Affinity Capture-Western
BioGRID:108123	BioGRID:112651	STAT3	BioGRID	PubMed	Affinity Capture-Western; Co-localization
BioGRID:108123	BioGRID:112497	SUMO2	BioGRID	PubMed	Affinity Capture-MS
BioGRID:108123	BioGRID:112706	SUV39H1	BioGRID	PubMed	Affinity Capture-Western
BioGRID:108123	BioGRID:117059	SUZ12	BioGRID	PubMed	Affinity Capture-Western
BioGRID:108123	BioGRID:112791	TCF3	BioGRID	PubMed	Affinity Capture-Western
BioGRID:108123	BioGRID:113010	TP53	BioGRID	PubMed	Affinity Capture-Western
BioGRID:108123	BioGRID:111919	TRIM27	BioGRID	PubMed	Two-hybrid
BioGRID:108123	BioGRID:115457	TRIM28	BioGRID	PubMed	Affinity Capture-Western
BioGRID:108123	BioGRID:113164	UBC	BioGRID	PubMed	Affinity Capture-MS
BioGRID:108123	BioGRID:118893	UHRF1	BioGRID	PubMed	Affinity Capture-Western; Biochemical Activity; Co-localization; Reconstituted Complex; Two-hybrid
BioGRID:108123	BioGRID:125434	UHRF2	BioGRID	PubMed	Affinity Capture-Western
BioGRID:108123	BioGRID:113622	USP7	BioGRID	PubMed	Affinity Capture-MS; Affinity Capture-Western; Biochemical Activity; Reconstituted Complex
BioGRID:108123	BioGRID:113327	WT1	BioGRID	PubMed	Affinity Capture-Western
BioGRID:108123	BioGRID:116168	YWHAQ	BioGRID	PubMed	Affinity Capture-MS
BioGRID:108123	BioGRID:131375	ZFP57	BioGRID	PubMed	Affinity Capture-Western

Pathways from BioSystems

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Cysteine and methionine metabolism, organism-specific biosystem (from KEGG)
Cysteine and methionine metabolism, organism-specific biosystemCysteine and methionine are sulfur-containing amino acids. Cysteine is synthesized from serine through different pathways in different organism groups. In bacteria and plants, cysteine is converted f...
Cysteine and methionine metabolism, conserved biosystem (from KEGG)
Cysteine and methionine metabolism, conserved biosystemCysteine and methionine are sulfur-containing amino acids. Cysteine is synthesized from serine through different pathways in different organism groups. In bacteria and plants, cysteine is converted f...
Methionine degradation, organism-specific biosystem (from KEGG)
Methionine degradation, organism-specific biosystemPathway module; Nucleotide and amino acid metabolism; Cysteine and methionine metabolism
Methionine degradation, conserved biosystem (from KEGG)
Methionine degradation, conserved biosystemPathway module; Nucleotide and amino acid metabolism; Cysteine and methionine metabolism
One Carbon Metabolism, organism-specific biosystem (from WikiPathways)
One Carbon Metabolism, organism-specific biosystemThis one-carbon metabolism pathway is centered around folate. Folate has two key carbon-carbon double bonds. Saturating one of them yields dihydrofolate (DHF) and adding an additional molecule of hyd...
Regulation of retinoblastoma protein, organism-specific biosystem (from Pathway Interaction Database)
Regulation of retinoblastoma protein, organism-specific biosystem
Regulation of retinoblastoma protein
Trans-sulfuration pathway, organism-specific biosystem (from WikiPathways)
Trans-sulfuration pathway, organism-specific biosystemTrans-sulfuration pathway, the pathway of production of GSH from S-adenosylmethionine (SAMe). Evidences have been showed that this pathway was perturbed in liver toxicity studies.

General gene information

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Markers

RH18124 (e-PCR)
- UniSTS:42581

D19S830 (e-PCR)
- UniSTS:32498

Genotypes

See DNMT1 SNP Geneview Report
See DNMT1 SNP Genotype Report
See DNMT1 SNP Variation Viewer Report

Homology

Homologs of the DNMT1 gene: The DNMT1 gene is conserved in chimpanzee, dog, cow, mouse, rat, chicken, zebrafish, A.thaliana, and rice.
Map Viewer (Mouse, Rat)
OrthoDB: The Hierarchical Catalog of Eukaryotic Orthologs

Clone Names

FLJ16293, MGC104992

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
DNA (cytosine-5-)-methyltransferase activity	IDA Inferred from Direct Assay more info
DNA binding	IDA Inferred from Direct Assay more info	PubMed
DNA-methyltransferase activity	IDA Inferred from Direct Assay more info	PubMed
RNA binding	IEA Inferred from Electronic Annotation more info
methyl-CpG binding	IEA Inferred from Electronic Annotation more info
protein binding	IPI Inferred from Physical Interaction more info	PubMed
transcription factor binding	IEA Inferred from Electronic Annotation more info
zinc ion binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
DNA methylation	TAS Traceable Author Statement more info	PubMed
cellular response to amino acid stimulus	IEA Inferred from Electronic Annotation more info
chromatin modification	IEA Inferred from Electronic Annotation more info
gene silencing	IEA Inferred from Electronic Annotation more info
maintenance of DNA methylation	IDA Inferred from Direct Assay more info	PubMed
negative regulation of histone H3-K9 methylation	IMP Inferred from Mutant Phenotype more info	PubMed
negative regulation of transcription from RNA polymerase II promoter	TAS Traceable Author Statement more info	PubMed
positive regulation of gene expression	IMP Inferred from Mutant Phenotype more info	PubMed
positive regulation of histone H3-K4 methylation	IMP Inferred from Mutant Phenotype more info	PubMed
regulation of cell proliferation	IEA Inferred from Electronic Annotation more info
transcription, DNA-dependent	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
centromeric heterochromatin	IEA Inferred from Electronic Annotation more info
nucleus	IEA Inferred from Electronic Annotation more info
replication fork	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: DNA (cytosine-5)-methyltransferase 1

Names: DNA (cytosine-5)-methyltransferase 1; m.HsaI; DNA MTase HsaI; DNA methyltransferase HsaI; CXXC-type zinc finger protein 9

NP_001124295.1

EC 2.1.1.37

NP_001370.1

EC 2.1.1.37

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_028016.3 RefSeqGene

Range

41208..102941

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_362

mRNA and Protein(s)

NM_001130823.1 → NP_001124295.1 DNA (cytosine-5)-methyltransferase 1 isoform a

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a).

Source sequence(s)

BC092517, BC126227, DA653750, X63692

Consensus CDS

CCDS45958.1

UniProtKB/TrEMBL

I6L9H2

UniProtKB/Swiss-Prot

P26358

Related

ENSP00000352516, OTTHUMP00000264207, ENST00000359526, OTTHUMT00000451169

Conserved Domains (7) summary

COG0270
Location:1154 – 1385
Blast Score: 317

Dcm; Site-specific DNA methylase [DNA replication, recombination, and repair]

cd04711
Location:981 – 1117
Blast Score: 666

BAH_Dnmt1_II; BAH, or Bromo Adjacent Homology domain, second copy present in DNA (Cytosine-5)-methyltransferases from Bilateria, Dnmt1 and similar proteins. DNA methylation, or the covalent addition of a methyl group to cytosine within the context of the CpG ...

cd04760
Location:770 – 893
Blast Score: 550

BAH_Dnmt1_I; BAH, or Bromo Adjacent Homology domain, first copy present in DNA (Cytosine-5)-methyltransferases from Bilateria, Dnmt1 and similar proteins. DNA methylation, or the covalent addition of a methyl group to cytosine within the context of the CpG ...

pfam06464
Location:16 – 105
Blast Score: 252

DMAP_binding; DMAP1-binding Domain

pfam02008
Location:662 – 707
Blast Score: 209

zf-CXXC; CXXC zinc finger domain

pfam12047
Location:415 – 550
Blast Score: 413

DNMT1-RFD; Cytosine specific DNA methyltransferase replication foci domain

cl16911
Location:1155 – 1384
Blast Score: 306

AdoMet_MTases; S-adenosylmethionine-dependent methyltransferases (SAM or AdoMet-MTase), class I; AdoMet-MTases are enzymes that use S-adenosyl-L-methionine (SAM or AdoMet) as a substrate for methyltransfer, creating the product S-adenosyl-L-homocysteine (AdoHcy). ...
NM_001379.2 → NP_001370.1 DNA (cytosine-5)-methyltransferase 1 isoform b

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (b) has the same N- and C-termini but is shorter compared to isoform a.

Source sequence(s)

BC092517, BC126227, DA653750, X63692

Consensus CDS

CCDS12228.1

UniProtKB/TrEMBL

I6L9H2

UniProtKB/Swiss-Prot

P26358

Related

ENSP00000345739, OTTHUMP00000264205, ENST00000340748, OTTHUMT00000451166

Conserved Domains (7) summary

COG0270
Location:1138 – 1369
Blast Score: 317

Dcm; Site-specific DNA methylase [DNA replication, recombination, and repair]

cd04711
Location:965 – 1101
Blast Score: 666

BAH_Dnmt1_II; BAH, or Bromo Adjacent Homology domain, second copy present in DNA (Cytosine-5)-methyltransferases from Bilateria, Dnmt1 and similar proteins. DNA methylation, or the covalent addition of a methyl group to cytosine within the context of the CpG ...

cd04760
Location:754 – 877
Blast Score: 550

BAH_Dnmt1_I; BAH, or Bromo Adjacent Homology domain, first copy present in DNA (Cytosine-5)-methyltransferases from Bilateria, Dnmt1 and similar proteins. DNA methylation, or the covalent addition of a methyl group to cytosine within the context of the CpG ...

pfam06464
Location:16 – 105
Blast Score: 253

DMAP_binding; DMAP1-binding Domain

pfam02008
Location:646 – 691
Blast Score: 209

zf-CXXC; CXXC zinc finger domain

pfam12047
Location:399 – 534
Blast Score: 412

DNMT1-RFD; Cytosine specific DNA methyltransferase replication foci domain

cl16911
Location:1139 – 1368
Blast Score: 305

AdoMet_MTases; S-adenosylmethionine-dependent methyltransferases (SAM or AdoMet-MTase), class I; AdoMet-MTases are enzymes that use S-adenosyl-L-methionine (SAM or AdoMet) as a substrate for methyltransfer, creating the product S-adenosyl-L-homocysteine (AdoHcy). ...

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 104

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh37.p10 Primary Assembly

Genomic

NC_000019.9 Reference GRCh37.p10 Primary Assembly

Range

10244022..10305755, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000151.1 Alternate HuRef

Range

9824670..9886268, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.0

Genomic

NC_018930.1 Alternate CHM1_1.0

Range

10180344..10242078, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	ABBA01029946.1 (2942..18834)	None
genomic	ABBA01029947.1	None
genomic	AC010077.1	AAD54507.1
genomic	AC011511.12 (2963..9777)	None
genomic	AC020931.6 (119297..129048)	None
genomic	AMYH01009467.1 (81797..143531)	None
genomic	CH471106.1	EAW84079.1
		EAW84080.1
mRNA	AB209413.2	BAD92650.1
mRNA	AF180682.1	AAF23609.1
mRNA	AK122759.1	BAG53712.1
mRNA	AY927518.1	None
mRNA	BC092517.1	AAH92517.1
mRNA	BC126227.1	AAI26228.1
mRNA	BC144093.1	AAI44094.1
mRNA	DA653750.1	None
mRNA	X63692.1	CAA45219.1