Description

  • Product name

    Recombinant human KMT3B / NSD1 protein
  • Purity

    >= 76 % SDS-PAGE.

  • Expression system

    Escherichia coli
  • Accession

  • Protein length

    Protein fragment
  • Animal free

    No
  • Nature

    Recombinant
    • Species

      Human
    • Sequence

      KAQKELRQLQED RKNDKKPPPY KHIKVNRPIG RVQIFTADLS EIPRCNCKAT DENPCGIDSE CINRMLLYEC HPTVCPAGGR CQNQCFSKRQ YPEVEIFRTL QRGWGLRTKT DIKKGEFVNE YVGELIDEEE CRARIRYAQE HDITNFYMLT LDKDRIIDAG PKGNYARFMN HCCQPNCETQ KWSVNGDTRV GLFALSDIKA GTELTFNYNL ECLGNGKTVC KCGAPNCSGF LGVRPKNQPI ATEE
    • Predicted molecular weight

      54 kDa including tags
    • Amino acids

      1849 to 2094
    • Tags

      GST tag N-Terminus
    • Additional sequence information

      NM_022455.

Specifications

Our Abpromise guarantee covers the use of ab196419 in the following tested applications.

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

  • Applications

    Functional Studies

    SDS-PAGE

  • Form

    Liquid
  • Concentration information loading...

Preparation and Storage

  • Stability and Storage

    Shipped on Dry Ice. Store at -80°C. Avoid freeze / thaw cycle.

    pH: 8
    Constituents: 0.63% Tris HCl, 0.64% Sodium chloride, 0.02% Potassium chloride, 0.12% Glutathione, 20% Glycerol, 0.05% DTT

    This product is an active protein and may elicit a biological response in vivo, handle with caution.

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

  • SDS-PAGE of 3μg ab196419 (lane 1). Protein marker (lane 2).
    4-20% gradient gel, coomassie staining.

  • Activity assay of ab196419. Assay was performed using a NSD1 Chemiluminescent Assay Kit with 400 μM S-adenosyl- methionine on biotinylated H3 peptide coated plates overnight at room temperature.

References

ab196419 has not yet been referenced specifically in any publications.

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