Anti -NSD1 (NSD-1, Nuclear Receptor Binding SET Domain Protein 1, ARA267, ARA-267, Androgen Receptor-associated Coregulator 267, STO, SOTOS, Sotos Syndrome, FLJ22263)

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

Chromosome: 5; NC_000005.9 (176560080..176727214). Location: 5q35

Monoclonal

IgG2b

8J131

Mouse

Recognizes human NSD1.

Affinity Purified
Purified by Protein G affinity chromatography.

Supplied as a liquid in PBS, 1% BSA, 0.05% sodium azide.

May be stored at 4 degree C for short-term only. Aliquot to avoid repeated freezing and thawing. Store at -20 degree C. Aliquots are stable for at least 12 months. For maximum recovery of product, centrifuge the original vial after thawing and prior to removing the cap.?

Small volumes of anti-NSD1 antibody 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.

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 nucleuslocalized, 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 receptorbinding Su-var, enhancer of zeste, and trithorax domain protein 1 on chromosome 5 and nucleoporin, 98kD on chromosome 11. Two transcript variants encoding distinct isoforms have been identified for this gene.

Antibodies; Abs to Disease Markers

Western Blot (WB), Gel Shift Assay (GS/EMSA)

Suitable for use in Dot Blot and Western Blot.

96,178 Da[Similar Products]

nuclear receptor binding SET domain protein 1

histone-lysine N-methyltransferase, H3 lysine-36 and H4 lysine-20 specific; H3-K36-HMTase; H4-K20-HMTase; OTTHUMP00000161431; OTTHUMP00000161432; lysine N-methyltransferase 3B; NR-binding SET domain-containing protein; androgen receptor-associated coregulator 267; androgen receptor coactivator 267 kDa protein; androgen receptor-associated protein of 267 kDa; nuclear receptor-binding SET domain-containing protein 1

Putative uncharacterized protein DKFZp666C163

Q658U6_HUMAN

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]

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: 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

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