추천 제품
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)
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
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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)
제품의 로트/배치 번호를 입력하여 시험 성적서(COA)을 검색하십시오. 로트 및 배치 번호는 제품 라벨에 있는 ‘로트’ 또는 ‘배치’라는 용어 뒤에서 찾을 수 있습니다.
NSD1 encoding a histone methyltransferase exhibits frameshift mutations in colorectal cancers
Jo YS, et al.
Pathology, 48(3), 284-286 (2016)
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 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)
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)
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