蛋白名称
Histone-lysine N-methyltransferase H3 lysine-36 and H4 lysine-20 specific
免疫原
Purified recombinant human NSD1 protein fragments expressed in E.coli.
特异性
NSD1 Monoclonal Antibody detects endogenous levels of NSD1 protein.
组成
Purified mouse monoclonal in buffer containing 0.1M Tris-Glycine (pH 7.4, 150 mM NaCl) with 0.2% sodium azide, 50% glycerol.
稀释比例
Western Blot: 1/1000 - 1/2000. Not yet tested in other applications.
纯化工艺
Affinity purification
其他名称
NSD1; ARA267; KMT3B; Histone-lysine N-methyltransferase; H3 lysine-36 and H4 lysine-20 specific; Androgen receptor coactivator 267 kDa protein; Androgen receptor-associated protein of 267 kDa; H3-K36-HMTase; H4-K20-HMTase; Lysine N-methyltr
背景
This gene encodes a protein containing a SET domain, 2 LXXLL motifs, 3 nuclear translocation signals (NLSs), 4 plant homeodomain (PHD) finger regions, and a proline-rich region. The encoded protein enhances androgen receptor (AR) transactivation, and this enhancement can be increased further in the presence of other androgen receptor associated coregulators. This protein may act as a nucleus-localized, basic transcriptional factor and also as a bifunctional transcriptional regulator. Mutations of this gene have been associated with Sotos syndrome and Weaver syndrome. One version of childhood acute myeloid leukemia is the result of a cryptic translocation with the breakpoints occurring within nuclear receptor-binding Su-var, enhancer of zeste, and trithorax domain protein 1 on chromosome 5 and nucleoporin, 98-kd on chromosome 11. Two transcript variants encoding distinct isofo
功能
catalytic activity:S-adenosyl-L-methionine + histone L-lysine = S-adenosyl-L-homocysteine + histone N(6)-methyl-L-lysine.,disease:A chromosomal aberration involving NSD1 is found in an adult form of myelodysplastic syndrome (MDS). Insertion of NUP98 into NSD1 generates a NUP98-NSD1 fusion product.,disease:A chromosomal aberration involving NSD1 is found in childhood acute myeloid leukemia. Translocation t(5;11)(q35;p15.5) with NUP98.,disease:Defects in NSD1 are a cause of Beckwith-Wiedemann syndrome (BWS) [MIM:130650]. BWS is a genetically heterogeneous disorder characterized by anterior abdominal wall defects including exomphalos (omphalocele), pre- and postnatal overgrowth, and macroglossia. Additional less frequent complications include specific developmental defects and a predisposition to embryonal tumors.,disease:Defects in NSD1 are the cause of Sotos syndrome [MIM:117550]; also kn
