推荐产品
生物来源
rabbit
质量水平
抗体形式
affinity isolated antibody
抗体产品类型
primary antibodies
克隆
polyclonal
形式
buffered aqueous glycerol solution
种属反应性
human
技术
immunohistochemistry: 1:25-1:100
登记号
NP_071900
UniProt登记号
运输
wet ice
储存温度
−20°C
靶向翻译后修饰
unmodified
基因信息
human ... NSD1(64324)
一般描述
Nuclear receptor binding SET domain protein 1 (NSD1) is a SET (Su(var)3-9, Enhancer-of-zeste and Trithorax) domain containing histone methyltransferase. NSD1 is expressed in brain, kidney, skeletal muscle, spleen, and thymus. NSD1 has SET domain, SAC (SET associated cysteine rich) domain, plant homeodomain protein (PHD) finger, and proline-tryptophan- tryptophan -proline (PWWP) domain, two nuclear interacting domain (NID+L and NID-L), five zinc finger domain and one cysteine/histidine rich domains. In human chromosome, the gene NSD1 is localized on 5q35.3.
免疫原
Synthetic peptide of human nuclear receptor binding SET domain protein 1
生化/生理作用
Nuclear receptor binding SET domain protein 1 (NSD1) preferentially methylates nucleosomal histone 3 lysine 36 (H3K36). NSD1 also methylates histone 4 lysine 44 (H4K44) when histone octamer is used as a substrate. NSD1 is implicated as a tumour suppressor gene. Loss of function mutations in NSD1 causes Sotos syndrome, characterized by overgrowth of child, macrocephaly and mental retardation. Epigenetic inactivation of NSD1 promoter by CpG hypermethylation causes cancers like neuroblastoma and glioblastoma. Fusion of NSD1 with nucleoporin 98 (NUP98) results in hyperactivation of NSD1 and is implicated in acute myeloid leukaemia. Frameshift mutations in NSD1 is associated with gastric and colorectal cancer. Intragenic mutation in NSD1 is associated with Weaver syndrome.
特点和优势
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外形
Rabbit IgG in pH7.4 PBS, 0.05% NaN3, 40% Glycerol.
WGK
WGK 1
闪点(°F)
Not applicable
闪点(°C)
Not applicable
法规信息
新产品
Epigenetic inactivation of the Sotos overgrowth syndrome gene histone methyltransferase NSD1 in human neuroblastoma and glioma
Berdasco M, et al.
Proceedings of the National Academy of Sciences of the USA, 106(51), 21830-21835 (2009)
The NSD1 and EZH2 overgrowth genes, similarities and differences
Tatton-Brown KA, et al.
American Journal of Medical Genetics, 163(2), 86-91 (2013)
NSD1 encoding a histone methyltransferase exhibits frameshift mutations in colorectal cancers
Jo YS, et al.
Pathology, 48(3), 284-286 (2016)
NSD1 mutations are the major cause of Sotos syndrome and occur in some cases of Weaver syndrome but are rare in other overgrowth phenotypes
Douglas J, et al.
American Journal of Human Genetics, 72(1), 132-143 (2003)
Familial Sotos syndrome is caused by a novel 1 bp deletion of the NSD1 gene
Hoglund P, et al.
Journal of medical Genetics, 40(1), 51-54 (2003)
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