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DNA (cytosine-5)-methyltransferase 3B (DNA methyltransferase-3B) or DNA methyltransferase HsaIIIB
Function:
- responsible for genome wide de novo methylation in mammals
- essential for the establishment of DNA methylation patterns during development
- may preferentially methylate nucleosomal DNA within the nucleosome core region
- may function as transcriptional co-repressor by associating with CBX4
- seems to be involved in gene silencing
- involved in activation of BAG1 gene expression by modulating dimethylation of promoter histone H3 at H3K4 & H3K9 (DNMT1 & CTCFL/BORIS may be involved)
- isoforms 4 & 5 are probably not functional due to the deletion of two conserved methyltransferase motifs
- activated by binding to the regulatory factor DNMT3L (putative)
- sumoylated
- interacts with BAZ2A/TIP5, SUV39H1 & CBX4
- interacts with SETDB1, UBL1 & UBE2I9
- interacts with DNMT1 & DNMT3A
- interacts with the PRC2/EED-EZH2 complex
S-adenosyl-L-methionine + DNA = S-adenosyl-L-homocysteine + DNA containing 5-methylcytosine
Structure:
- the PWWP domain is essential for targeting to pericentric heterochromatin
- belongs to the C5-methyltransferase family
- contains 1 ADD-type Zn+2 finger
- contains 1 PWWP domain
Compartment: nucleus
Alternative splicing: named isoforms=6
Expression:
- ubiquitous
- highly expressed in fetal liver, heart, kidney, placenta
- lower levels in spleen, colon, brain, liver, small intestine, lung, peripheral blood mononuclear cells, & skeletal muscle
- isoform 1 is expressed in all tissues except brain, skeletal muscle & PBMC
- isoform 3 is ubiquitous
- isoform 4 is expressed in all tissues except brain, skeletal muscle, lung & prostate
- isoform 5 is detectable in testis & at very low level in brain & prostate
Pathology:
- defects associated with immunodeficiency centromeric instability-facial anomalies (ICF) syndrome.
General
DNA (cytosine-5)-methyltransferase
Properties
SIZE: entity length = 853 aa
MW = 96 kD
COMPARTMENT: cell nucleus
MOTIF: DNMT1,DNMT3A interaction {1-298}
MOTIF: PWWP domain {225-283}
Zinc finger
NAME: Zinc finger
SITE: 435-527
EFFECTOR-BOUND: Zn+2
MOTIF: PRC2/EED-EZH2 interaction {435-527}
cysteine residue {C651}
Database Correlations
OMIM correlations
MORBIDMAP 602900
UniProt Q9UBC3
PFAM correlations
Entrez Gene 1789
Kegg hsa:1789
ENZYME 2.1.1.37
References
- UniProt :accession Q9UBC3
- DNMT3Bbase; Note: DNMT3B mutation db
http://bioinf.uta.fi/DNMT3Bbase/
Component-of
nucleolar remodeling complex (NoRC complex)