Product nameRecombinant Human KMT3B / NSD1 protein
See all KMT3B / NSD1 proteins and peptides
Protein lengthProtein fragment
Amino Acid Sequence
SequenceDQTCELPRRNCLLPFSNPVNLDAPEDKDSPFGNGQSNFSEPLNGCTMQLS TVSGTSQNAYGQDSPSCYIPLRRLQDLASMINVEYLNGSADGSESFQDPE KSDSRAQT
Amino acids2 to 109
Tagsproprietary tag N-Terminus
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.
Additional notesProtein 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.
Constituents: 0.31% Glutathione, 0.79% Tris HCl
- Androgen receptor coactivator 267 kDa protein
- Androgen receptor-associated protein of 267 kDa
FunctionHistone 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 specificityExpressed in the fetal/adult brain, kidney, skeletal muscle, spleen, and the thymus, and faintly in the lung.
Involvement in diseaseDefects 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 similaritiesBelongs 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 localizationNucleus. Chromosome.
- Information by UniProt
ab163817 has not yet been referenced specifically in any publications.