WHSC1 Antibody – Rabbit

WHSC1: a SET domain-containing protein lysine methyltransferase that is expressed normally in early development. Catalyzes the dimethylation of H3K36; H3K36me2 is associated with regions that are transcriptionally active. Maps in the Wolf-Hirschhorn syndrome critical region and is fused to IgH in about 15% of t(4;14) multiple myeloma cases. Patients with the t(4;14) chromosomal translocation comprise one of the worst prognostic subgroups of multiple myeloma. The t(4;14) translocation results in overexpression of WHSC1 and of FGFR3 due to the placement of the strong immunoglobulin H intronic Emu enhancer and 3-prime enhancer in the promoter regions of WHSC1 and FGFR3 genes, respectively. 100% of t(4;14) patients retain overexpression of WHSC1, while 30% have lost expression of FGFR3, suggesting that WHSC1 and not FGFR3 may the primary driver of the disease. Seven alternatively spliced isoforms of the human protein have been reported.

Protein type: Methyltransferase, protein lysine; EC 2.1.1.43; Oncoprotein; Amino Acid Metabolism - lysine degradation; Ubiquitin conjugating system; Methyltransferase

Chromosomal Location of Human Ortholog: 4p16.3

Cellular Component: nucleoplasm; cytoplasm; chromosome; nucleus

Molecular Function: protein binding; zinc ion binding; sequence-specific DNA binding; chromatin binding; histone-lysine N-methyltransferase activity

Biological Process: anatomical structure morphogenesis; establishment and/or maintenance of chromatin architecture; transcription, DNA-dependent; histone H3-K36 methylation; negative regulation of transcription from RNA polymerase II promoter; positive regulation of isotype switching to IgA isotypes

Disease: Wolf-hirschhorn Syndrome