nuclear receptor binding SET domain containing protein 1; histone-lysine N-methyltransferase, H3 Lys36 & H4 Lys20 specific; H3-K36-HMTase; H4-K20-HMTase; NR-binding SET domain containing protein; androgen receptor-associated coregulator 267 (NSD1, ARA267)

Function

• histone N-methyltransferase
• preferentially methylates Lys-36 of histone H3 & Lys-20 of histone H4 (in vitro)
• negatively & positively influences transcription
• interacts with RARA, THRA, RXRA, ESRRA, androgen receptor (ligand-binding domains)

Compartment

nucleus

Expression

• expressed in fetal/adult brain, kidney, skeletal muscle, spleen, thymus, lung (minimal)

Pathology

• defects in NSD1 are the cause of Sotos syndrome
• defects in NSD1 are the cause of Weaver syndrome
• defects in NSD1 are a cause of Beckwith-Wiedemann syndrome
• translocation t(5;11)(q35;p15.5) with NUP98 found in childhood acute myeloid leukemia
• translocation t(5;11)(q35;p15.5) with NUP98 found in myelodysplastic syndrome, generating a NUP98-NSD1 fusion product

More general terms

• histone N-methyltransferase
• nuclear protein
• zinc finger protein
• SET domain-containing protein

Component of

• ASC-2/NCOA6 complex (MLL2/MLL3 complex, ASCOM complex)

Database

• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=64324
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:64324
• OMIM: https://mirror.omim.org/entry/117550
• OMIM: https://mirror.omim.org/entry/130650
• OMIM: https://mirror.omim.org/entry/277590
• OMIM: https://mirror.omim.org/entry/606681
• UniProt: http://www.uniprot.org/uniprot/Q96L73.html