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Mouse Anti-NSD1 Recombinant Antibody (CBWJN-0325) (CBMAB-N3645-WJ)


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Summary

Host Animal
Mouse
Specificity
Human
Clone
CBWJN-0325
Antibody Isotype
IgG2b
Application
Dot, WB

Basic Information

Specificity
Human
Antibody Isotype
IgG2b
Clonality
Monoclonal
Application Notes
The COA includes recommended starting dilutions, optimal dilutions should be determined by the end user.

Formulations & Storage [For reference only, actual COA shall prevail!]

Format
Liquid
Buffer
PBS, pH 7.2, 1% BSA
Preservative
0.05% sodium azide
Concentration
0.1 mg/mL
Storage
Store at +4°C short term (1-2 weeks). Aliquot and store at -20°C long term. Avoid repeated freeze/thaw cycles.

Target

Full Name
nuclear receptor binding SET domain protein 1
Introduction
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]
Entrez Gene ID
64324
UniProt ID
Q96L73
Alternative Names
Nuclear Receptor Binding SET Domain Protein 1; Nuclear Receptor-Binding SET Domain-Containing Protein 1; Androgen Receptor-Associated Protein Of 267 KDa; Androgen Receptor Coactivator 267 KDa Protein; NR-Binding SET Domain-Containing Protein; Lysine N-Methyltransferase 3B; H3-K36-HMTase; H4-K20-HMTase; EC 2.1.1.43;
Function
Histone methyltransferase that dimethylates Lys-36 of histone H3 (H3K36me2). Transcriptional intermediary factor capable of both negatively or positively influencing transcription, depending on the cellular context.
Biological Process
Chromatin organizationIEA:UniProtKB-KW
Histone methylationISS:UniProtKB
Negative regulation of transcription by RNA polymerase IIISS:UniProtKB
Positive regulation of transcription, DNA-templatedManual Assertion Based On ExperimentIDA:UniProtKB
Regulation of histone H3-K36 methylationManual Assertion Based On ExperimentIMP:MGI
Regulation of peptidyl-serine phosphorylationManual Assertion Based On ExperimentIMP:MGI
Regulation of RNA polymerase II regulatory region sequence-specific DNA bindingManual Assertion Based On ExperimentIMP:MGI
Regulation of transcription, DNA-templatedManual Assertion Based On ExperimentIBA:GO_Central
Cellular Location
Nucleus
Chromosome
Involvement in disease
Sotos syndrome 1 (SOTOS1):
A childhood overgrowth syndrome characterized by pre- and postnatal overgrowth, developmental delay, mental retardation, advanced bone age, and abnormal craniofacial morphology including macrodolichocephaly with frontal bossing, frontoparietal sparseness of hair, apparent hypertelorism, downslanting palpebral fissures, and facial flushing. Common oral findings include: premature eruption of teeth; high, arched palate; pointed chin and, more rarely, prognathism.
Beckwith-Wiedemann syndrome (BWS):
A 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.
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For research use only. Not intended for any clinical use.

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We also offer labeled antibodies developed using our catalog antibody products and nonfluorescent conjugates (HRP, AP, Biotin, etc.) or fluorescent conjugates (Alexa Fluor, FITC, TRITC, Rhodamine, Texas Red, R-PE, APC, Qdot Probes, Pacific Dyes, etc.).

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