Recombinant Human KMT3B / NSD1 protein (ab163817)

Overview

Description

  • Nature
    Recombinant
  • Source
    Wheat germ
  • Amino Acid Sequence
    • Accession
    • Species
      Human
    • Sequence
      DQTCELPRRNCLLPFSNPVNLDAPEDKDSPFGNGQSNFSEPLNGCTMQLS TVSGTSQNAYGQDSPSCYIPLRRLQDLASMINVEYLNGSADGSESFQDPE KSDSRAQT
    • Amino acids
      2 to 109
    • Tags
      proprietary tag N-Terminus

Specifications

Our Abpromise guarantee covers the use of ab163817 in the following tested applications.

The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.

  • Applications

    Western blot

    ELISA

  • Form
    Liquid
  • Additional notes
    Protein concentration is above or equal to 0.05 mg/ml.
  • Concentration information loading...

Preparation and Storage

  • Stability and Storage

    Shipped on dry ice. Upon delivery aliquot and store at -80ºC. Avoid freeze / thaw cycles.

    pH: 8.00
    Constituents: 0.31% Glutathione, 0.79% Tris HCl

General Info

  • Alternative names
    • Androgen receptor coactivator 267 kDa protein
    • Androgen receptor-associated protein of 267 kDa
    • ARA267
    • H3 K36 HMTase
    • H3-K36-HMTase
    • H4 K20 HMTase
    • H4-K20-HMTase
    • Histone-lysine N-methyltransferase, H3 lysine-36 and H4 lysine-20 specific
    • KMT3B
    • Lysine N-methyltransferase 3B
    • NR binding SET domain containing protein
    • NR-binding SET domain-containing protein
    • Nsd1
    • NSD1_HUMAN
    • Nuclear receptor binding SET domain containing protein 1
    • Nuclear receptor binding SET domain protein 1
    • Nuclear receptor-binding SET domain-containing protein 1
    see all
  • Function
    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.
  • Tissue specificity
    Expressed in the fetal/adult brain, kidney, skeletal muscle, spleen, and the thymus, and faintly in the lung.
  • Involvement in disease
    Defects in NSD1 are the cause of Sotos syndrome (SOTOSS) [MIM:117550]; 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 (WES) [MIM:277590]. WES is a syndrome of accelerated growth and osseous maturation, unusual craniofacial appearance, hoarse and low-pitched cry, and hypertonia with camptodactyly.
    Defects in NSD1 are a cause of Beckwith-Wiedemann syndrome (BWS) [MIM:130650]. 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.
    Note=A chromosomal aberration involving NSD1 is found in childhood acute myeloid leukemia. Translocation t(5;11)(q35;p15.5) with NUP98.
    Note=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.
  • Sequence similarities
    Belongs to the histone-lysine methyltransferase family.
    Contains 1 AWS domain.
    Contains 4 PHD-type zinc fingers.
    Contains 1 post-SET domain.
    Contains 2 PWWP domains.
    Contains 1 SET domain.
  • Cellular localization
    Nucleus. Chromosome.
  • Information by UniProt

Images

  • ab163817 on a 12.5% SDS-PAGE stained with Coomassie Blue.

References

ab163817 has not yet been referenced specifically in any publications.

Customer reviews and Q&As

There are currently no Customer reviews or Questions for ab163817.
Please use the links above to contact us or submit feedback about this product.

Please note: All products are "FOR RESEARCH USE ONLY AND ARE NOT INTENDED FOR DIAGNOSTIC OR THERAPEUTIC USE"

Sign up