Homo sapiens Protein: DNMT3A
Summary
InnateDB Protein IDBP-34447.6
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 ENSP00000264709
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:0003682 chromatin binding
GO:0003886 DNA (cytosine-5-)-methyltransferase activity
GO:0005515 protein binding
GO:0008168 methyltransferase activity
GO:0045322 unmethylated CpG binding
GO:0046872 metal ion binding
GO:0051718 DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates
Biological Process
GO:0000122 negative regulation of transcription from RNA polymerase II promoter
GO:0006306 DNA methylation
GO:0006346 methylation-dependent chromatin silencing
GO:0006349 regulation of gene expression by genetic imprinting
GO:0007283 spermatogenesis
GO:0010424 DNA methylation on cytosine within a CG sequence
GO:0043045 DNA methylation involved in embryo development
GO:0043046 DNA methylation involved in gamete generation
GO:0044027 hypermethylation of CpG island
GO:0046498 S-adenosylhomocysteine metabolic process
GO:0046499 S-adenosylmethioninamine metabolic process
GO:0071230 cellular response to amino acid stimulus
GO:0090116 C-5 methylation of cytosine
Cellular Component
GO:0000775 chromosome, centromeric region
GO:0000791 euchromatin
GO:0000792 heterochromatin
GO:0005634 nucleus
GO:0005720 nuclear heterochromatin
GO:0005737 cytoplasm
GO:0016363 nuclear matrix
Protein Structure and Domains
PDB ID
InterPro IPR000313 PWWP domain
IPR001525 C-5 cytosine methyltransferase
IPR011011 Zinc finger, FYVE/PHD-type
IPR029063 S-adenosyl-L-methionine-dependent methyltransferase-like
PFAM PF00855
PF00145
PRINTS PR00105
PIRSF
SMART SM00293
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q9Y6K1
PhosphoSite PhosphoSite-Q9Y6K1
TrEMBL Q8WVA9
UniProt Splice Variant
Entrez Gene 1788
UniGene Hs.602553
RefSeq NP_783328
HUGO HGNC:2978
OMIM 602769
CCDS CCDS33157
HPRD 04141
IMGT
EMBL AC012074 AF067972 AF331856 AF480163 BC018214 BC023612 BC032392 BC043617 BC051864 CH471053
GenPept AAD33084 AAH18214 AAH23612 AAH32392 AAH43617 AAH51864 AAL57039 AAN40037 AAY14761 EAX00727