Mouse anti-Human NSD1 Monoclonal Antibody | anti-NSD1 antibody
NSD1 (NSD-1, Nuclear Receptor Binding SET Domain Protein 1, ARA267, ARA-267, Androgen Receptor-associated Coregulator 267, STO, SOTOS, Sotos Syndrome, FLJ22263)
Purified by Protein G affinity chromatography.
Purified by Protein G affinity chromatography.
NCBI and Uniprot Product Information
NCBI Description
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 isoforms have been identified for this gene. [provided by RefSeq]
Uniprot Description
NSD1: Histone methyltransferase. Preferentially methylates 'Lys-36' of histone H3 and 'Lys-20' of histone H4 (in vitro). Transcriptional intermediary factor capable of both negatively or positively influencing transcription, depending on the cellular context. Defects in NSD1 are the cause of Sotos syndrome type 1 (SOTOS1); 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. Defects in NSD1 are the cause of Weaver syndrome type 1 (WVS1). A syndrome of accelerated growth and osseous maturation, unusual craniofacial appearance, hoarse and low- pitched cry, and hypertonia with camptodactyly. Distinguishing features of Weaver syndrome include broad forehead and face, ocular hypertelorism, prominent wide philtrum, micrognathia, deep horizontal chin groove, and deep-set nails. In addition, carpal bone development is advanced over the rest of the hand. Defects in NSD1 are a cause of Beckwith-Wiedemann syndrome (BWS). 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. A chromosomal aberration involving NSD1 is found in childhood acute myeloid leukemia. Translocation t(5;11)(q35;p15.5) with NUP98. 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. Belongs to the histone-lysine methyltransferase family. 3 isoforms of the human protein are produced by alternative splicing.
Protein type: Transcription, coactivator/corepressor; Methyltransferase; EC 2.1.1.43; Oncoprotein; Methyltransferase, protein lysine; Nuclear receptor co-regulator; Amino Acid Metabolism - lysine degradation
Chromosomal Location of Human Ortholog: 5q35
Cellular Component: nucleoplasm; nucleolus; chromosome; nucleus
Molecular Function: retinoid X receptor binding; androgen receptor binding; zinc ion binding; retinoic acid receptor binding; histone lysine N-methyltransferase activity (H4-K20 specific); transcription cofactor activity; estrogen receptor binding; chromatin binding; thyroid hormone receptor binding; transcription corepressor activity; histone lysine N-methyltransferase activity (H3-K36 specific)
Biological Process: histone methylation; establishment and/or maintenance of chromatin architecture; transcription, DNA-dependent; positive regulation of transcription, DNA-dependent; histone H3-K36 methylation; negative regulation of transcription from RNA polymerase II promoter; gastrulation with mouth forming second
Disease: Sotos Syndrome 1; Beckwith-wiedemann Syndrome
Research Articles on NSD1
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Product Notes
The NSD1 dkfzp666c163 (Catalog #AAA604142) is an Antibody produced from Mouse and is intended for research purposes only. The product is available for immediate purchase. The NSD1 (NSD-1, Nuclear Receptor Binding SET Domain Protein 1, ARA267, ARA-267, Androgen Receptor-associated Coregulator 267, STO, SOTOS, Sotos Syndrome, FLJ22263) reacts with Human and may cross-react with other species as described in the data sheet. AAA Biotech's NSD1 can be used in a range of immunoassay formats including, but not limited to, Western Blot (WB), Gel Shift Assay (GS/EMSA). Suitable for use in Dot Blot and Western Blot. Researchers should empirically determine the suitability of the NSD1 dkfzp666c163 for an application not listed in the data sheet. Researchers commonly develop new applications and it is an integral, important part of the investigative research process. It is sometimes possible for the material contained within the vial of "NSD1, Monoclonal Antibody" to become dispersed throughout the inside of the vial, particularly around the seal of said vial, during shipment and storage. We always suggest centrifuging these vials to consolidate all of the liquid away from the lid and to the bottom of the vial prior to opening. Please be advised that certain products may require dry ice for shipping and that, if this is the case, an additional dry ice fee may also be required.Precautions
All products in the AAA Biotech catalog are strictly for research-use only, and are absolutely not suitable for use in any sort of medical, therapeutic, prophylactic, in-vivo, or diagnostic capacity. By purchasing a product from AAA Biotech, you are explicitly certifying that said products will be properly tested and used in line with industry standard. AAA Biotech and its authorized distribution partners reserve the right to refuse to fulfill any order if we have any indication that a purchaser may be intending to use a product outside of our accepted criteria.Disclaimer
Though we do strive to guarantee the information represented in this datasheet, AAA Biotech cannot be held responsible for any oversights or imprecisions. AAA Biotech reserves the right to adjust any aspect of this datasheet at any time and without notice. It is the responsibility of the customer to inform AAA Biotech of any product performance issues observed or experienced within 30 days of receipt of said product. To see additional details on this or any of our other policies, please see our Terms & Conditions page.Item has been added to Shopping Cart
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