Epigenetics & Nuclear Signaling Antibodies 4
Anti-WHSC1 Antibody (CAB7938)
- SKU:
- CAB7938
- Product Type:
- Antibody
- Reactivity:
- Human
- Reactivity:
- Mouse
- Host Species:
- Rabbit
- Isotype:
- IgG
- Antibody Type:
- Polyclonal Antibody
- Research Area:
- Epigenetics and Nuclear Signaling
Description
Antibody Name: | Anti-WHSC1 Antibody |
Antibody SKU: | CAB7938 |
Antibody Size: | 20uL, 50uL, 100uL |
Application: | WB IHC |
Reactivity: | Human, Mouse |
Host Species: | Rabbit |
Immunogen: | Recombinant fusion protein containing a sequence corresponding to amino acids 1-240 of human WHSC1 (NP_579877.1). |
Application: | WB IHC |
Recommended Dilution: | WB 1:500 - 1:2000 IHC 1:50 - 1:200 |
Reactivity: | Human, Mouse |
Positive Samples: | HeLa, HepG2, SW620, Mouse brain, Mouse spleen |
Immunogen: | Recombinant fusion protein containing a sequence corresponding to amino acids 1-240 of human WHSC1 (NP_579877.1). |
Purification Method: | Affinity purification |
Storage Buffer: | Store at -20'C. Avoid freeze / thaw cycles. Buffer: PBS with 0.02% sodium azide, 50% glycerol, pH7.3. |
Isotype: | IgG |
Sequence: | MEFS IKQS PLSV QSVV KCIK MKQA PEIL GSAN GKTP SCEV NREC SVFL SKAQ LSSS LQEG VMQK FNGH DALP FIPA DKLK DLTS RVFN GEPG AHDA KLRF ESQE MKGI GTPP NTTP IKNG SPEI KLKI TKTY MNGK PLFE SSIC GDSA ADVS QSEE NGQK PENK ARRN RKRS IKYD SLLE QGLV EAAL VSKI SSPS DKKI PAKK ESCP NTGR DKDH LLKY NVGD LVWS KVSG YPWW PCMV |
Gene ID: | 7468 |
Uniprot: | O96028 |
Cellular Location: | Chromosome, Cytoplasm, Nucleus |
Calculated MW: | 30kDa/53kDa/66kDa/69kDa/71kDa/80kDa/152kDa |
Observed MW: | 80kDa, 152kDa |
Synonyms: | NSD2, KMT3F, KMT3G, MMSET, REIIBP, TRX5, WHS, WHSC1 |
Background: | 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. |
UniProt Protein Function: | 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. |
UniProt Protein Details: | 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 |
NCBI Summary: | 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 Code: | O96028 |
NCBI GenInfo Identifier: | 74706096 |
NCBI Gene ID: | 7468 |
NCBI Accession: | O96028.1 |
UniProt Secondary Accession: | O96028,O96031, Q4VBY8, Q672J1, Q6IS00, Q86V01, Q9BZB4 A2A2T2, A2A2T3, A2A2T4, A7MCZ1, D3DVQ2, |
UniProt Related Accession: | O96028 |
Molecular Weight: | 30,199 Da |
NCBI Full Name: | Histone-lysine N-methyltransferase NSD2 |
NCBI Synonym Full Names: | Wolf-Hirschhorn syndrome candidate 1 |
NCBI Official Symbol: | WHSC1 |
NCBI Official Synonym Symbols: | WHS; NSD2; TRX5; MMSET; REIIBP |
NCBI Protein Information: | histone-lysine N-methyltransferase NSD2 |
UniProt Protein Name: | Histone-lysine N-methyltransferase NSD2 |
UniProt Synonym Protein Names: | Multiple myeloma SET domain-containing protein; MMSET; Nuclear SET domain-containing protein 2; NSD2; Protein trithorax-5; Wolf-Hirschhorn syndrome candidate 1 protein; WHSC1 |
Protein Family: | Histone-lysine N-methyltransferase |
UniProt Gene Name: | WHSC1 |
UniProt Entry Name: | NSD2_HUMAN |
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