InnateDB Protein
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IDBP-294785.5
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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DNMT3A
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Protein Name
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DNA (cytosine-5-)-methyltransferase 3 alpha
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Synonyms
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DNMT3A2; M.HsaIIIA; TBRS;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000384852
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InnateDB Gene
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IDBG-34441 (DNMT3A)
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Protein Structure
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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}.
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Subcellular Localization |
Nucleus {ECO:0000269PubMed:12145218}. Cytoplasm {ECO:0000269PubMed:12145218}. Note=Accumulates in the major satellite repeats at pericentric heterochromatin. {ECO:0000250}.
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Disease Associations |
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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}.
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Comments |
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Number of Interactions
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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]
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Protein-Protein |
86
[view]
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Protein-DNA |
4
[view]
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Predicted by orthology |
Total |
8 [view]
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Molecular Function |
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
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PFAM |
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PRINTS |
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PIRSF |
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SMART |
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TIGRFAMs |
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Modification |
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SwissProt |
Q9Y6K1
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PhosphoSite |
PhosphoSite-Q9Y6K1
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TrEMBL |
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UniProt Splice Variant |
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Entrez Gene |
1788
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UniGene |
Hs.602553
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RefSeq |
NP_783329
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HUGO |
HGNC:2978
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OMIM |
602769
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CCDS |
CCDS46232
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HPRD |
04141
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IMGT |
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EMBL |
AC012074
AF067972
AF331856
AF480163
BC032392
BC043617
BC051864
CH471053
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GenPept |
AAD33084
AAH32392
AAH43617
AAH51864
AAL57039
AAN40037
AAY14761
EAX00727
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