WHSC1 blocking peptide
WHSC1 Antibody (C-term) Blocking Peptide
NCBI and Uniprot Product Information
NCBI Description
This gene encodes a protein that contains four domains present in other developmental proteins: a PWWP domain, an HMG box, a SET domain, and a PHD-type zinc finger. It is expressed ubiquitously in early development. Wolf-Hirschhorn syndrome (WHS) is a malformation syndrome associated with a hemizygous deletion of the distal short arm of chromosome 4. This gene maps to the 165 kb WHS critical region and has also been involved in the chromosomal translocation t(4;14)(p16.3;q32.3) in multiple myelomas. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms. Some transcript variants are nonsense-mediated mRNA (NMD) decay candidates, hence not represented as reference sequences. [provided by RefSeq, Jul 2008]
Uniprot Description
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: Oncoprotein; Methyltransferase; EC 2.1.1.43; Methyltransferase, protein lysine; Ubiquitin conjugating system; Amino Acid Metabolism - lysine degradation
Chromosomal Location of Human Ortholog: 4p16.3
Cellular Component: nucleoplasm; nucleus
Molecular Function: histone lysine N-methyltransferase activity (H4-K20 specific); histone-lysine N-methyltransferase activity; protein binding
Biological Process: anatomical structure morphogenesis; double-strand break repair via nonhomologous end joining
Disease: Wolf-hirschhorn Syndrome
Research Articles on WHSC1
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Product Notes
The WHSC1 whsc1 (Catalog #AAA9222249) is a Blocking Peptide and is intended for research purposes only. The product is available for immediate purchase. It is sometimes possible for the material contained within the vial of "WHSC1, Blocking Peptide" to become dispersed throughout the inside of the vial, particularly around the seal of said vial, during shipment and storage. We always suggest centrifuging these vials to consolidate all of the liquid away from the lid and to the bottom of the vial prior to opening. Please be advised that certain products may require dry ice for shipping and that, if this is the case, an additional dry ice fee may also be required.Precautions
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