Mouse nuclear receptor binding SET domain protein 1 ELISA Kit | NSD1 elisa kit
Mouse Histone-lysine N-methyltransferase, H3 lysine-36 and H4 lysine-20 specific, NSD1 ELISA Kit
NCBI and Uniprot Product Information
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: Methyltransferase; Transcription, coactivator/corepressor; Oncoprotein; Amino Acid Metabolism - lysine degradation; EC 2.1.1.43; Methyltransferase, protein lysine; Nuclear receptor co-regulator
Cellular Component: histone methyltransferase complex; nucleolus; chromosome; nucleus
Molecular Function: histone methyltransferase activity; methyltransferase activity; zinc ion binding; retinoic acid receptor binding; metal ion binding; transferase activity; retinoid X receptor binding; protein binding; androgen 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; histone lysine N-methyltransferase activity (H3-K36 specific)
Biological Process: histone methylation; methylation; regulation of transcription, DNA-dependent; transcription, DNA-dependent; positive regulation of transcription, DNA-dependent; multicellular organismal development; histone H3-K36 methylation; negative regulation of transcription from RNA polymerase II promoter; chromatin modification; gastrulation with mouth forming second; peptidyl-lysine methylation
Research Articles on NSD1
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Product Notes
The Mouse NSD1 nsd1 (Catalog #AAA9319496) is an ELISA Kit and is intended for research purposes only. The product is available for immediate purchase. The AAA9319496 ELISA Kit recognizes Mouse NSD1. It is sometimes possible for the material contained within the vial of "nuclear receptor binding SET domain protein 1, ELISA Kit" 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
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