DNMT3B
entrez
1789
canonical
uniprot
Q9UBC3
canonical
ensembl
ENSG00000088305
resolver
ensp
ENSP00000201963
resolver
ensp
ENSP00000313397
resolver
ensp
ENSP00000328547
resolver
ensp
ENSP00000337764
resolver
ensp
ENSP00000403169
resolver
ensp
ENSP00000412305
resolver
ensp
ENSP00000512498
resolver
enst
ENST00000696232
resolver
genesymbol
DNMT3B
resolver
hgnc
HGNC:2979
resolver
uniprot
A0A8Q3SIG2
resolver
uniprot
A2A2E2
resolver
uniprot
B4DSM8
resolver
uniprot
B4DSU1
resolver
uniprot
E1P5M6
resolver
uniprot
E1P5M7
resolver
uniprot
E7EN63
resolver
uniprot
E9PBF2
resolver
uniprot
Q9UBD4
resolver
uniprot
Q9UJQ5
resolver
uniprot
Q9UKA6
resolver
uniprot
Q9UNE5
resolver
uniprot
Q9Y5R9
resolver
uniprot
Q9Y5S0
resolver
uniprot_entry
A0A8Q3SIG2_HUMAN
resolver
uniprot_entry
DNM3B_HUMAN
resolver
uniprot_sec
A2A2E2
resolver
uniprot_sec
B4DSM8
resolver
uniprot_sec
B4DSU1
resolver
uniprot_sec
E1P5M6
resolver
uniprot_sec
E1P5M7
resolver
uniprot_sec
E7EN63
resolver
uniprot_sec
E9PBF2
resolver
uniprot_sec
Q9UBD4
resolver
uniprot_sec
Q9UJQ5
resolver
uniprot_sec
Q9UKA6
resolver
uniprot_sec
Q9UNE5
resolver
uniprot_sec
Q9Y5R9
resolver
uniprot_sec
Q9Y5S0
resolver
activity_regulation
ACTIVITY REGULATION: Activated by binding to the regulatory factor DNMT3L. {ECO:0000250}.
uniprot
proteins
amino_acid_sequence
MKGDTRHLNGEEDAGGREDSILVNGACSDQSSDSPPILEAIRTPEIRGRRSSSRLSKREVSSLLSYTQDLTGDGDGEDGDGSDTPVMPKLFRETRTRSESPAVRTRNNNSVSSRERHRPSPRSTRGRQGRNHVDESPVEFPATRSLRRRATASAGTPWPSPPSSYLTIDLTDDTEDTHGTPQSSSTPYARLAQDSQQGGMESPQVEADSGDGDSSEYQDGKEFGIGDLVWGKIKGFSWWPAMVVSWKATSKRQAMSGMRWVQWFGDGKFSEVSADKLVALGLFSQHFNLATFNKLVSYRKAMYHALEKARVRAGKTFPSSPGDSLEDQLKPMLEWAHGGFKPTGIEGLKPNNTQPVVNKSKVRRAGSRKLESRKYENKTRRRTADDSATSDYCPAPKRLKTNCYNNGKDRGDEDQSREQMASDVANNKSSLEDGCLSCGRKNPVSFHPLFEGGLCQTCRDRFLELFYMYDDDGYQSYCTVCCEGRELLLCSNTSCCRCFCVECLEVLVGTGTAAEAKLQEPWSCYMCLPQRCHGVLRRRKDWNVRLQAFFTSDTGLEYEAPKLYPAIPAARRRPIRVLSLFDGIATGYLVLKELGIKVGKYVASEVCEESIAVGTVKHEGNIKYVNDVRNITKKNIEEWGPFDLVIGGSPCNDLSNVNPARKGLYEGTGRLFFEFYHLLNYSRPKEGDDRPFFWMFENVVAMKVGDKRDISRFLECNPVMIDAIKVSAAHRARYFWGNLPGMNRPVIASKNDKLELQDCLEYNRIAKLKKVQTITTKSNSIKQGKNQLFPVVMNGKEDVLWCTELERIFGFPVHYTDVSNMGRGARQKLLGRSWSVPVIRHLFAPLKDYFACE
uniprot
proteins
disease_involvement
DISEASE: Immunodeficiency-centromeric instability-facial anomalies syndrome 1 (ICF1) [MIM:242860]: A rare disorder characterized by a variable immunodeficiency resulting in recurrent infections, facial anomalies, and branching of chromosomes 1, 9, and 16. Other variable symptoms include growth retardation, failure to thrive, and psychomotor retardation. Laboratory studies show limited hypomethylation of DNA in a small fraction of the genome in some, but not all, patients. {ECO:0000269|PubMed:10555141, ECO:0000269|PubMed:10588719, ECO:0000269|PubMed:10647011, ECO:0000269|PubMed:11102980, ECO:0000269|PubMed:15580563, ECO:0000269|PubMed:21120685, ECO:0000269|PubMed:27734333}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Facioscapulohumeral muscular dystrophy 4, digenic (FSHD4) [MIM:619478]: A digenic form of facioscapulohumeral muscular dystrophy, a degenerative muscle disease characterized by slowly progressive weakness of the muscles of the face, upper-arm, and shoulder girdle. With disease progression, other muscles may also become affected. There is significant clinical variability and incomplete penetrance. {ECO:0000269|PubMed:27153398}. Note=The disease is caused by variants affecting distinct genetic loci, including the gene represented in this entry. DNMT3B mutations lead to DUX4 expression in somatic tissues, including muscle cells, when a haplotype on chromosome 4 is permissive for DUX4 expression. Ectopic expression of DUX4 in skeletal muscle activates the expression of stem cell and germline genes, and, when overexpressed in somatic cells, DUX4 can ultimately lead to cell death. {ECO:0000269|PubMed:27153398}.
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. DNA methylation is coordinated with methylation of histones. May preferentially methylates nucleosomal DNA within the nucleosome core region. May function as transcriptional co-repressor by associating with CBX4 and independently of DNA methylation. Seems to be involved in gene silencing (By similarity). In association with DNMT1 and via the recruitment of CTCFL/BORIS, involved in activation of BAG1 gene expression by modulating dimethylation of promoter histone H3 at H3K4 and H3K9. Isoforms 4 and 5 are probably not functional due to the deletion of two conserved methyltransferase motifs. Functions as a transcriptional corepressor by associating with ZHX1. Required for DUX4 silencing in somatic cells (PubMed:27153398). {ECO:0000250, ECO:0000269|PubMed:16357870, ECO:0000269|PubMed:17303076, ECO:0000269|PubMed:18413740, ECO:0000269|PubMed:18567530, ECO:0000269|PubMed:27153398}.
uniprot
proteins
mass_dalton
95751
uniprot
proteins
post_translational_modification
PTM: Sumoylated. {ECO:0000269|PubMed:11735126}.; PTM: Citrullinated by PADI4. {ECO:0000250}.
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
10555141
uniprot
proteins
pubmed
10588719
uniprot
proteins
pubmed
10647011
uniprot
proteins
pubmed
11102980
uniprot
proteins
pubmed
11735126
uniprot
proteins
pubmed
11780052
uniprot
proteins
pubmed
12145218
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15580563
uniprot
proteins
pubmed
16357870
uniprot
proteins
pubmed
16682412
uniprot
proteins
pubmed
17200670
uniprot
proteins
pubmed
17303076
uniprot
proteins
pubmed
18413740
uniprot
proteins
pubmed
18567530
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
21120685
uniprot
proteins
pubmed
21406692
uniprot
proteins
pubmed
21720545
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
27153398
uniprot
proteins
pubmed
27734333
uniprot
proteins
pubmed
28112733
uniprot
proteins
sequence_length
853
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:11735126, ECO:0000269|PubMed:12145218}.
uniprot
proteins