LMPD Database

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LMP004502

UniProt Annotations

Entry Information
Gene Namenuclear receptor binding SET domain protein 1
Protein EntryNSD1_HUMAN
UniProt IDQ96L73
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=3; Name=1; Synonyms=ARA267-beta; IsoId=Q96L73-1; Sequence=Displayed; Name=2; Synonyms=ARA267-alpha; IsoId=Q96L73-2; Sequence=VSP_007682, VSP_007683; Name=3; IsoId=Q96L73-3; Sequence=VSP_007684;
Catalytic ActivityS-adenosyl-L-methionine + L-lysine-[histone] = S-adenosyl-L-homocysteine + N(6)-methyl-L-lysine-[histone].
DiseaseBeckwith-Wiedemann syndrome (BWS) [MIM
DiseaseNote=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.
DiseaseNote=A chromosomal aberration involving NSD1 is found in childhood acute myeloid leukemia. Translocation t(5;11)(q35;p15.5) with NUP98.
DiseaseSotos syndrome 1 (SOTOS1) [MIM
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.
SimilarityBelongs to the class V-like SAM-binding methyltransferase superfamily. {ECO
SimilarityContains 1 AWS domain. {ECO
SimilarityContains 1 post-SET domain. {ECO
SimilarityContains 1 SET domain. {ECO
SimilarityContains 2 PWWP domains. {ECO
SimilarityContains 4 PHD-type zinc fingers.
Subcellular LocationNucleus. Chromosome .
SubunitInteracts with the ligand-binding domains of RARA and THRA in the absence of ligand; in the presence of ligand the interaction is severely disrupted but some binding still occurs. Interacts with the ligand-binding domains of RXRA and ESRRA only in the presence of ligand. Interacts with ZNF496 (By similarity). Interacts with AR DNA- and ligand-binding domains. {ECO
Tissue SpecificityExpressed in the fetal/adult brain, kidney, skeletal muscle, spleen, and the thymus, and faintly in the lung.
Web ResourceName=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/NSD1ID356.html";