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Wolf Hirschhorn Syndrome Candidate 1 (WHSC1)

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MMSET; NSD2; REIIBP; TRX5; WHS; Multiple myeloma SET domain-containing protein; Nuclear SET domain-containing 2; Histone-lysine N-methyltransferase NSD2; Trithorax-5

Wolf Hirschhorn Syndrome Candidate 1 (WHSC1)
CCC L827
HGNC 12766
MGI 1276574
PubMed 23963300
RGD 1307955
UniProt O96028
WHSC1 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.

Organism species: Homo sapiens (Human)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Wolf Hirschhorn Syndrome Candidate 1 (WHSC1) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Wolf Hirschhorn Syndrome Candidate 1 (WHSC1) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Wolf Hirschhorn Syndrome Candidate 1 (WHSC1) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Wolf Hirschhorn Syndrome Candidate 1 (WHSC1) CLIA Kit Customized Service Offer
n/a ELISA Kit for Wolf Hirschhorn Syndrome Candidate 1 (WHSC1) ELISA Kit Customized Service Offer

Organism species: Mus musculus (Mouse)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Wolf Hirschhorn Syndrome Candidate 1 (WHSC1) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Wolf Hirschhorn Syndrome Candidate 1 (WHSC1) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Wolf Hirschhorn Syndrome Candidate 1 (WHSC1) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Wolf Hirschhorn Syndrome Candidate 1 (WHSC1) CLIA Kit Customized Service Offer
n/a ELISA Kit for Wolf Hirschhorn Syndrome Candidate 1 (WHSC1) ELISA Kit Customized Service Offer

Organism species: Rattus norvegicus (Rat)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Wolf Hirschhorn Syndrome Candidate 1 (WHSC1) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Wolf Hirschhorn Syndrome Candidate 1 (WHSC1) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Wolf Hirschhorn Syndrome Candidate 1 (WHSC1) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Wolf Hirschhorn Syndrome Candidate 1 (WHSC1) CLIA Kit Customized Service Offer
n/a ELISA Kit for Wolf Hirschhorn Syndrome Candidate 1 (WHSC1) ELISA Kit Customized Service Offer
  1. "The t(4;14) translocation in myeloma dysregulates both FGFR3 and a novel gene, MMSET, resulting in IgH/MMSET hybrid transcripts."Blood 92:3025-3034(1998) [PubMed] [Europe PMC] [Abstract]
  2. "WHSC1, a 90 kb SET domain-containing gene, expressed in early development and homologous to a Drosophila dysmorphy gene maps in the Wolf-Hirschhorn syndrome critical region and is fused to IgH in t(4;14) multiple myeloma."Hum. Mol. Genet. 7:1071-1082(1998) [PubMed] [Europe PMC] [Abstract]
  3. ErratumHum. Mol. Genet. 7:1527-1527(1998)
  4. "A unique mRNA initiated within a middle intron of WHSC1/MMSET encodes a DNA binding protein that suppresses human IL-5 transcription."Am. J. Respir. Cell Mol. Biol. 24:90-98(2001) [PubMed] [Europe PMC] [Abstract]
  5. "Overexpression of transcripts originating from the MMSET locus characterizes all t(4;14)(p16;q32)-positive multiple myeloma patients."Blood 105:4060-4069(2005) [PubMed] [Europe PMC] [Abstract]
  6. "Prediction of the coding sequences of unidentified human genes. XIV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro."DNA Res. 6:197-205(1999) [PubMed] [Europe PMC] [Abstract]
  7. "Complete sequencing and characterization of 21,243 full-length human cDNAs." Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
  8. "Generation and annotation of the DNA sequences of human chromosomes 2 and 4." Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract]
  9. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
  10. "Detection of t(4;14)(p16.3;q32) chromosomal translocation in multiple myeloma by reverse transcription-polymerase chain reaction analysis of IGH-MMSET fusion transcripts."Cancer Res. 60:4058-4061(2000) [PubMed] [Europe PMC] [Abstract]
  11. "Translocation T(4;14)(p16.3;q32) is a recurrent genetic lesion in primary amyloidosis."Am. J. Pathol. 158:1599-1603(2001) [PubMed] [Europe PMC] [Abstract]
  12. "A subset of multiple myeloma harboring the t(4;14)(p16;q32) translocation lacks FGFR3 expression but maintains an IGH/MMSET fusion transcript."Blood 101:2374-2376(2003) [PubMed] [Europe PMC] [Abstract]
  13. "Identification of a novel IGH-MMSET fusion transcript in a human myeloma cell line with the t(4;14)(p16.3;q32) chromosomal translocation."Br. J. Haematol. 126:437-439(2004) [PubMed] [Europe PMC] [Abstract]
  14. "Identification of ID-1 as a potential target gene of MMSET in multiple myeloma."Br. J. Haematol. 130:700-708(2005) [PubMed] [Europe PMC] [Abstract]
  15. "Transcription repression activity is associated with the type I isoform of the MMSET gene involved in t(4;14) in multiple myeloma."Br. J. Haematol. 131:214-218(2005) [PubMed] [Europe PMC] [Abstract]
  16. "The etiology of Wolf-Hirschhorn syndrome."Trends Genet. 21:188-195(2005) [PubMed] [Europe PMC] [Abstract]
  17. "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks."Cell 127:635-648(2006) [PubMed] [Europe PMC] [Abstract]
  18. "Multiple-myeloma-related WHSC1/MMSET isoform RE-IIBP is a histone methyltransferase with transcriptional repression activity."Mol. Cell. Biol. 28:2023-2034(2008) [PubMed] [Europe PMC] [Abstract]
  19. "A quantitative atlas of mitotic phosphorylation."Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed] [Europe PMC] [Abstract]
  20. "Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach."Anal. Chem. 81:4493-4501(2009) [PubMed] [Europe PMC] [Abstract]
  21. "Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions."Sci. Signal. 2:RA46-RA46(2009) [PubMed] [Europe PMC] [Abstract]
  22. "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis."Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract]