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Key Documents

SAB4301635

Sigma-Aldrich

Anti-NSD1

affinity isolated antibody

Synonym(s):

ARA267, KMT3B, SOTOS, SOTOS1, STO

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About This Item

UNSPSC Code:
12352203
NACRES:
NA.41

biological source

rabbit

Quality Level

100

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.

Q96L73

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 Code

10 - Combustible liquids

WGK

WGK 1

Flash Point(F)

Not applicable

Flash Point(C)

Not applicable

Certificates of Analysis (COA)

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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)
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)
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)
The structure of NSD1 reveals an autoregulatory mechanism underlying histone H3K36 methylation
Qiao Q, et al.
The Journal of Biological Chemistry, 286(10), 8361-8368 (2011)
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