Gene Symbol |
DNMT3A
|
Entrez Gene |
1788
|
Alt Symbol |
DNMT3A2, M.HsaIIIA, TBRS
|
Species |
Human
|
Gene Type |
protein-coding
|
Description |
DNA (cytosine-5-)-methyltransferase 3 alpha
|
Other Description |
DNA (cytosine-5)-methyltransferase 3A|DNA MTase HsaIIIA|DNA cytosine methyltransferase 3A2
|
Swissprots |
Q86TE8 Q8WXU9 Q8IZV0 Q86XF5 E9PEB8 Q9Y6K1
|
Accessions |
AAY14761 EAX00727 EAX00728 Q9Y6K1 AB208833 BAD92070 AF067972 AAD33084 AF331856 AAL57039 AF480163 AAN40037 AI376254 AK025230 BC018214 AAH18214 BC023612 AAH23612 BC032392 AAH32392 BC043617 AAH43617 BC051864 AAH51864 BM470515 CB852889 EU446951 ABZ92480 W76111 XM_005264175 XP_005264232 XM_005264177 XP_005264234 XM_006711957 XP_006712020 XM_006711958 XP_006712021 XM_011532662 XP_011530964 XM_011532663 XP_011530965 XM_011532664 XP_011530966 XM_011532665 XP_011530967 XM_011532666 XP_011530968 XM_011532667 XP_011530969 XM_011532668 XP_011530970 NM_022552 NP_072046 NM_153759 NP_715640 NM_175629 NP_783328 NM_175630 NP_783329
|
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:0000269|PubMed:16357870}.
|
Subcellular Location |
Nucleus {ECO:0000269|PubMed:12145218}. Cytoplasm {ECO:0000269|PubMed:12145218}. Note=Accumulates in the major satellite repeats at pericentric heterochromatin. {ECO:0000250}.
|
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:0000269|PubMed:10325416}.
|
Top Pathways |
Cysteine and methionine metabolism, MicroRNAs in cancer
|