SAB4301635
Anti-NSD1
affinity isolated antibody
Synonym(s):
ARA267, KMT3B, SOTOS, SOTOS1, STO
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About This Item
NACRES:
NA.41
UNSPSC Code:
12352203
Conjugate:
unconjugated
Clone:
polyclonal
Application:
IHC
Citations:
7
biological source
rabbit
conjugate
unconjugated
antibody form
affinity isolated antibody
antibody product type
primary antibodies
clone
polyclonal
form
buffered aqueous glycerol solution
species reactivity
human
technique(s)
immunohistochemistry: 1:25-1:100
accession no.
NP_071900
UniProt accession no.
shipped in
wet ice
storage temp.
−20°C
target post-translational modification
unmodified
Gene Information
human ... NSD1(64324)
General description
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.
Immunogen
Synthetic peptide of human nuclear receptor binding SET domain protein 1
Biochem/physiol Actions
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.
Features and Benefits
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Physical form
Rabbit IgG in pH7.4 PBS, 0.05% NaN3, 40% Glycerol.
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Storage Class
10 - Combustible liquids
wgk
WGK 1
flash_point_f
Not applicable
flash_point_c
Not applicable
Regulatory Information
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The NSD1 and EZH2 overgrowth genes, similarities and differences
Tatton-Brown KA, et al.
American Journal of Medical Genetics, 163(2), 86-91 (2013)
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)
NUP98/NSD1 characterizes a novel poor prognostic group in acute myeloid leukaemia with a distinct HOX gene expression pattern
Hollink IH, et al.
Blood, 118, 3645-3656 (2011)
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)
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