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


RefSeq Accession Definition Sequence Price Select
NM_001379 Homo sapiens DNA (cytosine-5-)-methyltransferase 1 (DNMT1), transcript variant 2, mRNA. Full Length $2419.65
ORF Sequence $1697.85
NM_001130823 Homo sapiens DNA (cytosine-5-)-methyltransferase 1 (DNMT1), transcript variant 1, mRNA. Full Length $2441.25
ORF Sequence $1714.65


Gene Symbol DNMT1
Entrez Gene ID 1786
Full Name DNA (cytosine-5-)-methyltransferase 1
Synonyms AIM, CXXC9, DNMT, FLJ16293, MCMT, MGC104992
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

19

19p13.2

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].
Disorder

MIM: 126375

mRNA NM_001379, 195546895
Protein NP_001370, 4503351
Product DNA (cytosine-5)-methyltransferase 1 isoform b
RefSeq Status REVIEWED
mRNA NM_001130823, 195927036
Protein NP_001124295, 195927037
Product DNA (cytosine-5)-methyltransferase 1 isoform a
RefSeq Status REVIEWED
KEGG
hsa01100Metabolic pathways
hsa00270Cysteine and methionine metabolism
WikiPathways
WP241One Carbon Metabolism
Pathway Interaction Database
rb_1pathwayRegulation of retinoblastoma protein
Homo sapiens (human)DNMT1NP_001124295.1
Pan troglodytes (chimpanzee)DNMT1XP_001163764.1
Canis lupus familiaris (dog)DNMT1XP_533919.2
Bos taurus (cattle)DNMT1NP_872592.1
Mus musculus (house mouse)Dnmt1NP_034196.3
Rattus norvegicus (Norway rat)Dnmt1NP_445806.1
Process
IDNameEvidence
GO:0000122negative regulation of transcription from RNA polymerase II promoterTAS
GO:0006306DNA methylationTAS
GO:0010216maintenance of DNA methylationIDA
GO:0010628positive regulation of gene expressionIMP
GO:0016458gene silencingIEA
GO:0016568chromatin modificationIEA
GO:0042127regulation of cell proliferationIEA
GO:0051571positive regulation of histone H3-K4 methylationIMP
GO:0051573negative regulation of histone H3-K9 methylationIMP
GO:0090116C-5 methylation of cytosineTAS
Component
IDNameEvidence
GO:0005634nucleusIEA
GO:0005657replication forkIEA
GO:0005721centromeric heterochromatinIEA
Function
IDNameEvidence
GO:0003677DNA bindingIDA
GO:0003886DNA (cytosine-5-)-methyltransferase activityIEA
GO:0005515protein bindingIPI
GO:0008134transcription factor bindingIEA
GO:0008270zinc ion bindingIEA
GO:0009008DNA-methyltransferase activityIDA
GO:0016740transferase activityIEA
GO:0046872metal ion bindingIEA
GeneCards DNMT1
PDB 3EPZ, 3PTA
UniProt P26358
MIM 126375
Ensembl ENSG00000130816
HGNC 2976
HPRD 00532

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