Bovine Histone-Lysine N-Methyltransferase, H3 Lysine-36 and H4 Lysine-20 Specific (NSD1) ELISA Kit | NSD1 elisa kit

Bovine Histone-Lysine N-Methyltransferase, H3 Lysine-36 and H4 Lysine-20 Specific (NSD1) ELISA Kit

Cat. Num. AAA9900749

• Gene Names: NSD1; STO; KMT3B; SOTOS; ARA267; SOTOS1
• Reactivity: Bovine
• Synonyms: Histone-Lysine N-Methyltransferase; H3 Lysine-36 and H4 Lysine-20 Specific (NSD1); Bovine Histone-Lysine N-Methyltransferase; H3 Lysine-36 and H4 Lysine-20 Specific (NSD1) ELISA Kit; NSD1 elisa kit

• Reactivity: Bovine
• Sequence Length: 2427

• Preparation and Storage: Store all reagents at 2-8 degree C

NCBI and Uniprot Product Information

• NCBI GI #: 27477095
• NCBI GeneID: 64324
• NCBI Accession #: NP_758859.1
• NCBI GenBank Nucleotide #: NM_172349.2
• UniProt Accession #: Q96L73; Q96PD8; Q96RN7
• Molecular Weight: 284,264 Da
• NCBI Official Full Name: histone-lysine N-methyltransferase, H3 lysine-36 and H4 lysine-20 specific isoform a
• NCBI Official Synonym Full Names: nuclear receptor binding SET domain protein 1
• NCBI Official Symbol: NSD1
• NCBI Official Synonym Symbols: STO; KMT3B; SOTOS; ARA267; SOTOS1
• NCBI Protein Information: histone-lysine N-methyltransferase, H3 lysine-36 and H4 lysine-20 specific
• UniProt Protein Name: Histone-lysine N-methyltransferase, H3 lysine-36 and H4 lysine-20 specific
• Protein Family: Histone-lysine N-methyltransferase
• UniProt Gene Name: NSD1
• UniProt Synonym Gene Names: ARA267; KMT3B; NR-binding SET domain-containing protein

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, Jul 2008]

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: 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