ITM1065
ITM1065
- Catalog: ITM1065
- Gene/Protein: NSD1
- Product Description: Immunotag™ NSD1 Monoclonal Antibody
504.0000
Price in reward points: 504
| Antibody Specification | |
| Datasheet | 
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| Target Protein | NSD1 |
| Clonality | Monoclonal |
| Storage/Stability | -20°C/1 year |
| Application | WB |
| Recommended Dilution | Western Blot: 1/1000 - 1/2000. Not yet tested in other applications. |
| Concentration | 1 mg/ml |
| Reactive Species | Human |
| Host Species | Mouse |
| Immunogen | Purified recombinant human NSD1 protein fragments expressed in E.coli. |
| Specificity | NSD1 Monoclonal Antibody detects endogenous levels of NSD1 protein. |
| Purification | Affinity purification |
| Form | Purified mouse monoclonal in buffer containing 0.1M Tris-Glycine (pH 7.4, 150 mM NaCl) with 0.2% sodium azide, 50% glycerol. |
| Gene Name | NSD1 |
| Accession No. | Q96L73 O88491 |
| Alternate Names | NSD1; ARA267; KMT3B; Histone-lysine N-methyltransferase; H3 lysine-36 and H4 lysine-20 specific; Androgen receptor coactivator 267 kDa protein; Androgen receptor-associated protein of 267 kDa; H3-K36-HMTase; H4-K20-HMTase; Lysine N-methyltr |
| Description | nuclear receptor binding SET domain protein 1(NSD1) Homo sapiens This gene encodes a protein containing a SET domain, 2 LXXLL motifs, 3 nuclear translocation signals (NLSs), 4 plant homeodomain (PHD) finger regions, and a proline-rich region. The encoded protein enhances androgen receptor (AR) transactivation, and this enhancement can be increased further in the presence of other androgen receptor associated coregulators. This protein may act as a nucleus-localized, basic transcriptional factor and also as a bifunctional transcriptional regulator. Mutations of this gene have been associated with Sotos syndrome and Weaver syndrome. One version of childhood acute myeloid leukemia is the result of a cryptic translocation with the breakpoints occurring within nuclear receptor-binding Su-var, enhancer of zeste, and trithorax domain protein 1 on chromosome 5 and nucleoporin, 98-kd on chromosome 11. Two transcript variants encoding distinct isofo |
| Cell Pathway/ Category | Lysine degradation, |
| Protein Expression | Brain,Stomach,Tongue,Uterus, |
| Subcellular Localization | nucleus,nucleoplasm,chromosome, |
| Protein Function | catalytic activity:S-adenosyl-L-methionine + histone L-lysine = S-adenosyl-L-homocysteine + histone N(6)-methyl-L-lysine.,disease:A chromosomal aberration involving NSD1 is found in an adult form of myelodysplastic syndrome (MDS). Insertion of NUP98 into NSD1 generates a NUP98-NSD1 fusion product.,disease:A chromosomal aberration involving NSD1 is found in childhood acute myeloid leukemia. Translocation t(5;11)(q35;p15.5) with NUP98.,disease:Defects in NSD1 are a cause of Beckwith-Wiedemann syndrome (BWS) [MIM:130650]. BWS is a genetically heterogeneous disorder characterized by anterior abdominal wall defects including exomphalos (omphalocele), pre- and postnatal overgrowth, and macroglossia. Additional less frequent complications include specific developmental defects and a predisposition to embryonal tumors.,disease:Defects in NSD1 are the cause of Sotos syndrome [MIM:117550]; also known as cerebral gigantism. It is a disorder characterized by excessively rapid growth, acromegalic features, and a nonprogressive cerebral disorder with mental retardation. High-arched palate and prominent jaw are noted in several patients. Most cases of Sotos syndrome are sporadic and may represent new dominant mutation.,disease:Defects in NSD1 are the cause of Weaver syndrome (WES) [MIM:277590]. WES is a syndrome of accelerated growth and osseous maturation, unusual craniofacial appearance, hoarse and low-pitched cry, and hypertonia with camptodactyly.,function:Histone methyltransferase. Preferentially methylates 'Lys-36' of histone H3 and 'Lys-20' of histone H4 (in vitro) (By similarity). Transcriptional intermediary factor capable of both negatively or positively influencing transcription, depending on the cellular context.,similarity:Belongs to the histone-lysine methyltransferase family.,similarity:Contains 1 AWS domain.,similarity:Contains 1 post-SET domain.,similarity:Contains 1 SET domain.,similarity:Contains 2 PWWP domains.,similarity:Contains 4 PHD-type zinc fingers.,subunit:Interacts with the ligand-binding domains of RARA and THRA in the absence of ligand; in the presence of ligand the interaction is severely disrupted but some binding still occurs. Interacts with the ligand-binding domains of RXRA and ESRRA only in the presence of ligand (By similarity). Interacts with AR DNA-and ligand-binding domains.,tissue specificity:Expressed in the fetal/adult brain, kidney, skeletal muscle, spleen, and the thymus, and faintly in the lung., |
| Usage | For Research Use Only! Not for diagnostic or therapeutic procedures. |
| Material Safety Data Sheet | |
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