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NSD1 - nuclear receptor binding SET domain protein 1
Entrez Gene Name: nuclear receptor binding SET domain protein 1
Entrez GeneID: Human(64324)
, Mouse(18193), Rat(306764)
, Mouse(18193), Rat(306764) Synonyms: AI528500, ARA267, DKFZp666C163, FLJ10684, FLJ22263, FLJ44628, KMT3B, LOC202347, NSD1, SOTOS, STO
Gene Summary
- Human (64324): This gene encodes a protein containing a SET domain, 2 LXXLL motifs, 3 nuclear translocation signals (NLSs), 4 plant homeodomain (PHD) finger regions, and a proline-rich region. The encoded protein enhances androgen receptor (AR) transactivation, and this enhancement can be increased further in the presence of other androgen receptor associated coregulators. This protein may act as a nucleus-localized, basic transcriptional factor and also as a bifunctional transcriptional regulator. Mutations of this gene have been associated with Sotos syndrome and Weaver syndrome. One version of childhood acute myeloid leukemia is the result of a cryptic translocation with the breakpoints occurring within nuclear receptor-binding Su-var, enhancer of zeste, and trithorax domain protein 1 on chromosome 5 and nucleoporin, 98-kd on chromosome 11. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
Molecular Functions | Biological Process | Cellular Components | Protein Domains | Subcellular Locations | Pathways | Literature References | IPA Extras
Cell Regulation
Biological Process
chromatin modification, gastrulation with mouth forming second, histone H3-K36 methylation, histone H4-K20 methylation, histone methylation, methylation, negative regulation of transcription from RNA polymerase II promoter, peptidyl-lysine methylation, positive regulation of transcription, DNA-dependent, regulation of transcription, DNA-dependent
Literature References
- 12805229Rayasam GV, Wendling O, Angrand PO, Mark M, Niederreither K, Song L, Lerouge T, Hager GL, Chambon P, Losson R. NSD1 is essential for early post-implantation development and has a catalytically active SET domain.EMBO J 2003 Jun 16;22(12):3153-3163
- 9628876Huang N, vom Baur E, Garnier JM, Lerouge T, Vonesch JL, Lutz Y, Chambon P, Losson R. Two distinct nuclear receptor interaction domains in NSD1, a novel SET protein that exhibits characteristics of both corepressors and coactivators.EMBO J 1998 Jun 15;17(12):3398-412
- 20837538Lucio-Eterovic AK, Singh MM, Gardner JE, Veerappan CS, Rice JC, Carpenter PB. Role for the nuclear receptor-binding SET domain protein 1 (NSD1) methyltransferase in coordinating lysine 36 methylation at histone 3 with RNA polymerase II function.Proc Natl Acad Sci U S A 2010 Sep 28;107(39):16952-7
Molecular Functions
androgen receptor binding, chromatin binding, estrogen receptor binding, histone methyltransferase activity, histone methyltransferase activity (H3-K36 specific), histone methyltransferase activity (H4-K20 specific), histone-lysine N-methyltransferase activity, ligand-dependent nuclear receptor binding, metal ion binding, methyltransferase activity, protein binding, receptor activity, retinoic acid receptor binding, retinoid X receptor binding, thyroid hormone receptor binding, transcription cofactor activity, transcription corepressor activity, transferase activity, zinc ion binding
Protein Domains
androgen receptor binding, associated with SET domains, chromatin binding, estrogen receptor binding, histone lysine N-methyltransferase activity (H3-K36 specific), histone lysine N-methyltransferase activity (H4-K20 specific), histone methyltransferase, histone-lysine N-methyltransferase, ligand-dependent nuclear receptor interactor, LXXLL motif, nuclear localization sequence, nuclear receptor domain, protein binding, PWWP, retinoic acid receptor binding, retinoid X receptor binding, RING, SET domain, thyroid hormone receptor binding, transcription co-repressor, transcription cofactor, transcription regulator, zinc ion binding