NSD3
Domain
The KIKL motif recognizes and binds the NET domain of BRD3.
Function
Histone methyltransferase. Preferentially dimethylates 'Lys-4' and 'Lys-27' of histone H3 forming H3K4me2 and H3K27me2. H3 'Lys-4' methylation represents a specific tag for epigenetic transcriptional activation, while 'Lys-27' is a mark for transcriptional repression.
Involvement in disease
Defects in NSD3 may be involved in non small cell lung carcinomas (NSCLC). Amplified or overexpressed in NSCLC.
A chromosomal aberration involving NSD3 is found in childhood acute myeloid leukemia. Translocation t(8;11)(p11.2;p15) with NUP98.
Sequence Similarities
Belongs to the class V-like SAM-binding methyltransferase superfamily. Histone-lysine methyltransferase family. SET2 subfamily.
Tissue Specificity
Highly expressed in brain, heart and skeletal muscle. Expressed at lower level in liver and lung.
Cellular localization
- Nucleus
- Chromosome
Alternative names
WHSC1L1, DC28, NSD3, Histone-lysine N-methyltransferase NSD3, Nuclear SET domain-containing protein 3, Protein whistle, WHSC1-like 1 isoform 9 with methyltransferase activity to lysine, Wolf-Hirschhorn syndrome candidate 1-like protein 1, WHSC1-like protein 1