Histone-Lysine N-Methyltransferase, H3 Lysine-36 and H4 Lysine-20 Specific (NSD

For Research Use Only. Not for use in diagnostic procedures.

Store all reagents at 2-8 degree C

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Small volumes of NSD1 elisa kit vial(s) may occasionally become entrapped in the seal of the product vial during shipment and storage. If necessary, briefly centrifuge the vial on a tabletop centrifuge to dislodge any liquid in the container`s cap. Certain products may require to ship with dry ice and additional dry ice fee may apply.

MBS9900761 is a ready-to-use microwell, strip plate ELISA (enzyme-linked immunosorbent assay) Kit for analyzing the presence of the Histone-Lysine N-Methyltransferase, H3 Lysine-36 and H4 Lysine-20 Specific (NSD1) ELISA Kit target analytes in biological samples. The concentration gradients of the kit standards or positive controls render a theoretical kit detection range in biological research samples containing NSD1. The ELISA analytical biochemical technique of the MBS9900761 kit is based on NSD1 antibody-NSD1 antigen interactions (immunosorbency) and an HRP colorimetric detection system to detect NSD1 antigen targets in samples. The ELISA Kit is designed to detect native, not recombinant, NSD1. Appropriate sample types may include undiluted body fluids and/or tissue homogenates, secretions. Quality control assays assessing reproducibility identified the intra-assay CV (%) and inter-assay CV(%).

284,264 Da

nuclear receptor binding SET domain protein 1

histone-lysine N-methyltransferase, H3 lysine-36 and H4 lysine-20 specific

Histone-lysine N-methyltransferase, H3 lysine-36 and H4 lysine-20 specific

ARA267; KMT3B; NR-binding SET domain-containing protein  [Similar Products]

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, Jul 2008]

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 ***** 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: Amino Acid Metabolism - lysine degradation; EC 2.1.1.43; Methyltransferase; Methyltransferase, protein lysine; Nuclear receptor co-regulator; Oncoprotein; Transcription, coactivator/corepressor

Chromosomal Location of Human Ortholog: 5q35.3

Cellular Component: chromosome; nucleoplasm

Molecular Function: androgen receptor binding; chromatin binding; estrogen receptor binding; histone lysine N-methyltransferase activity (H4-K20 specific); histone methyltransferase activity (H3-K36 specific); histone-lysine N-methyltransferase activity; retinoic acid receptor binding; retinoid X receptor binding; thyroid hormone receptor binding; transcription cofactor activity; transcription corepressor activity; zinc ion binding

Biological Process: histone H3-K36 methylation; histone methylation; negative regulation of transcription from RNA polymerase II promoter; positive regulation of transcription, DNA-templated; regulation of histone H3-K36 methylation; regulation of peptidyl-serine phosphorylation; transcription, DNA-dependent

Disease: Beckwith-wiedemann Syndrome; Sotos Syndrome 1

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