InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: DNMT1

Summary

InnateDB Protein

IDBP-26539.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

DNMT1

Protein Name

DNA (cytosine-5-)-methyltransferase 1

Synonyms

ADCADN; AIM; CXXC9; DNMT; HSN1E; MCMT;

Species

Homo sapiens

Ensembl Protein

ENSP00000352516

InnateDB Gene

IDBG-26537 (DNMT1)

Protein Structure

UniProt Annotation

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. {ECO:0000269PubMed:16357870, ECO:0000269PubMed:18413740, ECO:0000269PubMed:18754681}.

Subcellular Localization

Nucleus {ECO:0000269PubMed:12145218}.

Disease Associations

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:0000269PubMed: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:0000269PubMed:22328086}. Note=The disease is caused by mutations affecting the gene represented in this entry.

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. {ECO:0000269PubMed:10325416}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 122 experimentally validated interaction(s) in this database.
They are also associated with 14 interaction(s) predicted by orthology.

Experimentally validated
Total	125 [view]
Protein-Protein	111 [view]
Protein-DNA	13 [view]
Protein-RNA	0
DNA-DNA	1 [view]
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	14 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003677	DNA binding
GO:0003682	chromatin binding
GO:0003723	RNA binding
GO:0003886	DNA (cytosine-5-)-methyltransferase activity
GO:0005515	protein binding
GO:0008134	transcription factor binding
GO:0008168	methyltransferase activity
GO:0008270	zinc ion binding
GO:0008327	methyl-CpG binding
GO:0009008	DNA-methyltransferase activity

Biological Process

GO:0000122	negative regulation of transcription from RNA polymerase II promoter
GO:0006306	DNA methylation
GO:0006351	transcription, DNA-templated
GO:0010216	maintenance of DNA methylation
GO:0010468	regulation of gene expression
GO:0010628	positive regulation of gene expression
GO:0016458	gene silencing
GO:0016568	chromatin modification
GO:0042127	regulation of cell proliferation
GO:0045892	negative regulation of transcription, DNA-templated
GO:0051571	positive regulation of histone H3-K4 methylation
GO:0051573	negative regulation of histone H3-K9 methylation
GO:0071230	cellular response to amino acid stimulus
GO:0090116	C-5 methylation of cytosine

Cellular Component

GO:0000792	heterochromatin
GO:0005634	nucleus
GO:0005657	replication fork
GO:0005721	centromeric heterochromatin

Protein Structure and Domains

PDB ID

InterPro

IPR001025 Bromo adjacent homology (BAH) domain
IPR001525 C-5 cytosine methyltransferase
IPR002857 Zinc finger, CXXC-type
IPR010506 DMAP1-binding
IPR017198 DNA (cytosine-5)-methyltransferase 1, eukaryote
IPR022702 DNA (cytosine-5)-methyltransferase 1, replication foci domain
IPR029063 S-adenosyl-L-methionine-dependent methyltransferase-like

PFAM

PF01426
PF00145
PF02008
PF06464
PF12047

PRINTS

PR00105

PIRSF

PIRSF037404

SMART

SM00439

TIGRFAMs

Post-translational Modifications

Modification

Cross-References