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Merck
모든 사진(1)

Key Documents

SAB4301635

Sigma-Aldrich

Anti-NSD1

affinity isolated antibody

동의어(들):

ARA267, KMT3B, SOTOS, SOTOS1, STO

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About This Item

UNSPSC 코드:
12352203
NACRES:
NA.41

생물학적 소스

rabbit

Quality Level

항체 형태

affinity isolated antibody

항체 생산 유형

primary antibodies

클론

polyclonal

형태

buffered aqueous glycerol solution

종 반응성

human

기술

immunohistochemistry: 1:25-1:100

수납 번호(accession number)

NP_071900

UniProt 수납 번호

배송 상태

wet ice

저장 온도

−20°C

타겟 번역 후 변형

unmodified

유전자 정보

human ... NSD1(64324)

관련 카테고리

일반 설명

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.

면역원

Synthetic peptide of human nuclear receptor binding SET domain protein 1

생화학적/생리학적 작용

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.

특징 및 장점

Evaluate our antibodies with complete peace of mind. If the antibody does not perform in your application, we will issue a full credit or replacement antibody. Learn more.

물리적 형태

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


시험 성적서(COA)

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문서 라이브러리 방문

The NSD1 and EZH2 overgrowth genes, similarities and differences
Tatton-Brown KA, et al.
American Journal of Medical Genetics, 163(2), 86-91 (2013)
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)
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)
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)
NSD1 encoding a histone methyltransferase exhibits frameshift mutations in colorectal cancers
Jo YS, et al.
Pathology, 48(3), 284-286 (2016)

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