Version 5.4
Homo sapiens Protein: DNMT3A
Summary
InnateDB Protein IDBP-294785.5
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol DNMT3A
Protein Name DNA (cytosine-5-)-methyltransferase 3 alpha
Synonyms DNMT3A2; M.HsaIIIA; TBRS;
Species Homo sapiens
Ensembl Protein ENSP00000384852
InnateDB Gene IDBG-34441 (DNMT3A)
Protein Structure
UniProt Annotation
Function Required for genome-wide de novo methylation and is essential for the establishment of DNA methylation patterns during development. DNA methylation is coordinated with methylation of histones. It modifies DNA in a non-processive manner and also methylates non-CpG sites. May preferentially methylate DNA linker between 2 nucleosomal cores and is inhibited by histone H1. Plays a role in paternal and maternal imprinting. Required for methylation of most imprinted loci in germ cells. Acts as a transcriptional corepressor for ZBTB18. Recruited to trimethylated 'Lys-36' of histone H3 (H3K36me3) sites. Can actively repress transcription through the recruitment of HDAC activity. {ECO:0000269PubMed:16357870}.
Subcellular Localization Nucleus {ECO:0000269PubMed:12145218}. Cytoplasm {ECO:0000269PubMed:12145218}. Note=Accumulates in the major satellite repeats at pericentric heterochromatin. {ECO:0000250}.
Disease Associations
Tissue Specificity Highly expressed in fetal tissues, skeletal muscle, heart, peripheral blood mononuclear cells, kidney, and at lower levels in placenta, brain, liver, colon, spleen, small intestine and lung. {ECO:0000269PubMed:10325416}.
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 90 experimentally validated interaction(s) in this database.
They are also associated with 8 interaction(s) predicted by orthology.
Experimentally validated
Total 90 [view]
Protein-Protein 86 [view]
Protein-DNA 4 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 8 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0003677 DNA binding
GO:0003886 DNA (cytosine-5-)-methyltransferase activity
GO:0005515 protein binding
GO:0046872 metal ion binding
Biological Process
GO:0006306 DNA methylation
GO:0006349 regulation of gene expression by genetic imprinting
GO:0090116 C-5 methylation of cytosine
Cellular Component
GO:0000791 euchromatin
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0016363 nuclear matrix
Protein Structure and Domains
PDB ID
InterPro
PFAM
PRINTS
PIRSF
SMART
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q9Y6K1
PhosphoSite PhosphoSite-Q9Y6K1
TrEMBL
UniProt Splice Variant
Entrez Gene 1788
UniGene Hs.602553
RefSeq NP_783329
HUGO HGNC:2978
OMIM 602769
CCDS CCDS46232
HPRD 04141
IMGT
EMBL AC012074 AF067972 AF331856 AF480163 BC032392 BC043617 BC051864 CH471053
GenPept AAD33084 AAH32392 AAH43617 AAH51864 AAL57039 AAN40037 AAY14761 EAX00727

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca