DNMT3A
entrez
1788
canonical
uniprot
Q9Y6K1
canonical
ensembl
ENSG00000119772
resolver
ensp
ENSP00000264709
resolver
ensp
ENSP00000324375
resolver
ensp
ENSP00000370122
resolver
ensp
ENSP00000370132
resolver
ensp
ENSP00000384237
resolver
ensp
ENSP00000384852
resolver
ensp
ENSP00000507765
resolver
ensp
ENSP00000531294
resolver
ensp
ENSP00000671839
resolver
enst
ENST00000380756
resolver
enst
ENST00000402667
resolver
enst
ENST00000683760
resolver
genesymbol
DNMT3A
resolver
hgnc
HGNC:2978
resolver
uniprot
A0A0C4DG02
resolver
uniprot
E9PEB8
resolver
uniprot
F8WE91
resolver
uniprot
Q59HC6
resolver
uniprot
Q86TE8
resolver
uniprot
Q86XF5
resolver
uniprot
Q8IZV0
resolver
uniprot
Q8WXU9
resolver
uniprot_entry
A0A0C4DG02_HUMAN
resolver
uniprot_entry
DNM3A_HUMAN
resolver
uniprot_entry
F8WE91_HUMAN
resolver
uniprot_entry
Q59HC6_HUMAN
resolver
uniprot_sec
E9PEB8
resolver
uniprot_sec
Q86TE8
resolver
uniprot_sec
Q86XF5
resolver
uniprot_sec
Q8IZV0
resolver
uniprot_sec
Q8WXU9
resolver
activity_regulation
ACTIVITY REGULATION: Activated by binding to the regulatory factor DNMT3L. Auto-methylation at Cys-710 in absence of DNA inactivates the DNA methyltransferase activity. {ECO:0000250|UniProtKB:O88508}.
uniprot
proteins
amino_acid_sequence
MPAMPSSGPGDTSSSAAEREEDRKDGEEQEEPRGKEERQEPSTTARKVGRPGRKRKHPPVESGDTPKDPAVISKSPSMAQDSGASELLPNGDLEKRSEPQPEEGSPAGGQKGGAPAEGEGAAETLPEASRAVENGCCTPKEGRGAPAEAGKEQKETNIESMKMEGSRGRLRGGLGWESSLRQRPMPRLTFQAGDPYYISKRKRDEWLARWKREAEKKAKVIAGMNAVEENQGPGESQKVEEASPPAVQQPTDPASPTVATTPEPVGSDAGDKNATKAGDDEPEYEDGRGFGIGELVWGKLRGFSWWPGRIVSWWMTGRSRAAEGTRWVMWFGDGKFSVVCVEKLMPLSSFCSAFHQATYNKQPMYRKAIYEVLQVASSRAGKLFPVCHDSDESDTAKAVEVQNKPMIEWALGGFQPSGPKGLEPPEEEKNPYKEVYTDMWVEPEAAAYAPPPPAKKPRKSTAEKPKVKEIIDERTRERLVYEVRQKCRNIEDICISCGSLNVTLEHPLFVGGMCQNCKNCFLECAYQYDDDGYQSYCTICCGGREVLMCGNNNCCRCFCVECVDLLVGPGAAQAAIKEDPWNCYMCGHKGTYGLLRRREDWPSRLQMFFANNHDQEFDPPKVYPPVPAEKRKPIRVLSLFDGIATGLLVLKDLGIQVDRYIASEVCEDSITVGMVRHQGKIMYVGDVRSVTQKHIQEWGPFDLVIGGSPCNDLSIVNPARKGLYEGTGRLFFEFYRLLHDARPKEGDDRPFFWLFENVVAMGVSDKRDISRFLESNPVMIDAKEVSAAHRARYFWGNLPGMNRPLASTVNDKLELQECLEHGRIAKFSKVRTITTRSNSIKQGKDQHFPVFMNEKEDILWCTEMERVFGFPVHYTDVSNMSRLARQRLLGRSWSVPVIRHLFAPLKEYFACV
uniprot
proteins
disease_involvement
DISEASE: Tatton-Brown-Rahman syndrome (TBRS) [MIM:615879]: An overgrowth syndrome characterized by a distinctive facial appearance, tall stature and intellectual disability. Facial gestalt is characterized by a round face, heavy horizontal eyebrows and narrow palpebral fissures. Less common features include atrial septal defects, seizures, umbilical hernia, and scoliosis. {ECO:0000269|PubMed:24614070, ECO:0000269|PubMed:27317772, ECO:0000269|PubMed:27701732, ECO:0000269|PubMed:27991732, ECO:0000269|PubMed:28432085, ECO:0000269|PubMed:28941052}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Leukemia, acute myelogenous (AML) [MIM:601626]: A subtype of acute leukemia, a cancer of the white blood cells. AML is a malignant disease of bone marrow characterized by maturational arrest of hematopoietic precursors at an early stage of development. Clonal expansion of myeloid blasts occurs in bone marrow, blood, and other tissue. Myelogenous leukemias develop from changes in cells that normally produce neutrophils, basophils, eosinophils and monocytes. {ECO:0000269|PubMed:21067377}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Heyn-Sproul-Jackson syndrome (HESJAS) [MIM:618724]: An autosomal dominant form of microcephalic dwarfism. Affected individuals have intrauterine growth retardation, postnatal growth restrictions, proportionate short stature, microcephaly, severe developmental delay and impaired intellectual development. More variable features include sparse hair, short broad metacarpals and phalanges, and mild recurrent infections. {ECO:0000269|PubMed:30478443}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
2.1.1.-
uniprot
proteins
ec_number
2.1.1.37
uniprot
proteins
function
FUNCTION: Required for genome-wide de novo methylation and is essential for the establishment of DNA methylation patterns during development (PubMed:12138111, PubMed:16357870, PubMed:30478443). DNA methylation is coordinated with methylation of histones (PubMed:12138111, PubMed:16357870, PubMed:30478443). It modifies DNA in a non-processive manner and also methylates non-CpG sites (PubMed:12138111, PubMed:16357870, PubMed:30478443). May preferentially methylate DNA linker between 2 nucleosomal cores and is inhibited by histone H1 (By similarity). Plays a role in paternal and maternal imprinting (By similarity). Required for methylation of most imprinted loci in germ cells (By similarity). Acts as a transcriptional corepressor for ZBTB18 (By similarity). Recruited to trimethylated 'Lys-36' of histone H3 (H3K36me3) sites (By similarity). Can actively repress transcription through the recruitment of HDAC activity (By similarity). Also has weak auto-methylation activity on Cys-710 in absence of DNA (By similarity). {ECO:0000250|UniProtKB:O88508, ECO:0000269|PubMed:12138111, ECO:0000269|PubMed:16357870, ECO:0000269|PubMed:30478443}.
uniprot
proteins
mass_dalton
101858
uniprot
proteins
mutagenesis
MUTAGEN 732; /note="F->A: Loss of activity due to the incapacity to bind the regulatory subunit DNMT3L."; /evidence="ECO:0000269|PubMed:17713477
uniprot
proteins
post_translational_modification
PTM: Sumoylated; sumoylation disrupts the ability to interact with histone deacetylases (HDAC1 and HDAC2) and repress transcription. {ECO:0000250|UniProtKB:O88508}.; PTM: Auto-methylated at Cys-710: auto-methylation takes place in absence of DNA substrate and inactivates the DNA methyltransferase activity. Inactivation by auto-methylation may be used to inactivate unused DNA methyltransferases in the cell. {ECO:0000250|UniProtKB:O88508}.
uniprot
proteins
protein_family
C5-methyltransferase family
uniprot
proteins
protein_family
Class I-like SAM-binding methyltransferase superfamily
uniprot
proteins
pubmed
10325416
uniprot
proteins
pubmed
10433969
uniprot
proteins
pubmed
12138111
uniprot
proteins
pubmed
12145218
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15815621
uniprot
proteins
pubmed
16357870
uniprot
proteins
pubmed
16682412
uniprot
proteins
pubmed
17081983
uniprot
proteins
pubmed
17200670
uniprot
proteins
pubmed
17713477
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
19834512
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
20871592
uniprot
proteins
pubmed
21067377
uniprot
proteins
pubmed
21406692
uniprot
proteins
pubmed
21720545
uniprot
proteins
pubmed
21828135
uniprot
proteins
pubmed
22086334
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24614070
uniprot
proteins
pubmed
27317772
uniprot
proteins
pubmed
27701732
uniprot
proteins
pubmed
27991732
uniprot
proteins
pubmed
28112733
uniprot
proteins
pubmed
28432085
uniprot
proteins
pubmed
28941052
uniprot
proteins
pubmed
30478443
uniprot
proteins
pubmed
32051553
uniprot
proteins
sequence_length
912
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:12138111, ECO:0000269|PubMed:12145218}. Chromosome {ECO:0000269|PubMed:12138111}. Cytoplasm {ECO:0000269|PubMed:12145218}. Note=Accumulates in the major satellite repeats at pericentric heterochromatin. {ECO:0000250|UniProtKB:O88508}.
uniprot
proteins