^ abcGRCh38: Ensembl release 89: ENSG00000165671 – Ensembl, May 2017
^ abcGRCm38: Ensembl release 89: ENSMUSG00000021488 – Ensembl, May 2017
^"Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^"Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^"NSD1 Gene". GeneCards human gene database. Weizmann Institute of Science. Retrieved 31 December 2017.
^Huang N, vom Baur E, Garnier JM, Lerouge T, Vonesch JL, Lutz Y, Chambon P, Losson R (June 1998). "Two distinct nuclear receptor interaction domains in NSD1, a novel SET protein that exhibits characteristics of both corepressors and coactivators". EMBO J. 17 (12): 3398–412. doi:10.1093/emboj/17.12.3398. PMC1170677. PMID 9628876.
^Kurotaki N, Imaizumi K, Harada N, Masuno M, Kondoh T, Nagai T, Ohashi H, Naritomi K, Tsukahara M, Makita Y, Sugimoto T, Sonoda T, Hasegawa T, Chinen Y, Tomita Ha HA, Kinoshita A, Mizuguchi T, Yoshiura Ki K, Ohta T, Kishino T, Fukushima Y, Niikawa N, Matsumoto N (April 2002). "Haploinsufficiency of NSD1 causes Sotos syndrome". Nat. Genet. 30 (4): 365–6. doi:10.1038/ng863. PMID 11896389. S2CID 205357840.
^Douglas J, Hanks S, Temple IK, Davies S, Murray A, Upadhyaya M, Tomkins S, Hughes HE, Cole TR, Rahman N (January 2003). "NSD1 mutations are the major cause of Sotos syndrome and occur in some cases of Weaver syndrome but are rare in other overgrowth phenotypes". Am. J. Hum. Genet. 72 (1): 132–43. doi:10.1086/345647. PMC378618. PMID 12464997.
nsd1, nuclear, receptor, binding, domain, protein, transcription, coregulator, protein, that, encodes, histone, methyltransferase, associated, with, sotos, syndrome, weaver, syndrome, available, structurespdbortholog, search, pdbe, rcsblist, codes3ooiidentifie. NSD1 Nuclear receptor binding SET Domain Protein 1 5 is a transcription coregulator protein 6 that encodes Histone Methyltransferase and is associated with Sotos syndrome 7 and Weaver syndrome 8 NSD1Available structuresPDBOrtholog search PDBe RCSBList of PDB id codes3OOIIdentifiersAliasesNSD1 ARA267 KMT3B SOTOS SOTOS1 STO nuclear receptor binding SET domain protein 1External IDsOMIM 606681 MGI 1276545 HomoloGene 32543 GeneCards NSD1Gene location Human Chr Chromosome 5 human 1 Band5q35 3Start177 131 830 bp 1 End177 300 213 bp 1 Gene location Mouse Chr Chromosome 13 mouse 2 Band13 13 B1Start55 357 595 bp 2 End55 466 138 bp 2 RNA expression patternBgeeHumanMouse ortholog Top expressed insural nerveAchilles tendonganglionic eminencemonocytespermthymuscorpus callosumstromal cell of endometriumcerebellar vermisislet of LangerhansTop expressed inascending aortaaortic valvepineal glandsupraoptic nucleusvas deferensyolk sacsecondary oocyteganglionic eminencecumulus celllacrimal glandMore reference expression dataBioGPSn aGene ontologyMolecular functionmethyltransferase activity transferase activity histone methyltransferase activity H4 K20 specific transcription corepressor activity chromatin binding transcription coregulator activity metal ion binding retinoid X receptor binding thyroid hormone receptor binding androgen receptor binding retinoic acid receptor binding estrogen receptor binding histone lysine N methyltransferase activity histone methyltransferase activity H3 K36 specific zinc ion binding protein binding RNA polymerase II cis regulatory region sequence specific DNA bindingCellular componentnucleoplasm chromosome nucleus chromatinBiological processregulation of transcription DNA templated negative regulation of transcription by RNA polymerase II transcription DNA templated positive regulation of transcription DNA templated methylation regulation of peptidyl serine phosphorylation regulation of histone H3 K36 methylation histone lysine methylation histone methylation regulation of RNA polymerase II regulatory region sequence specific DNA binding histone H3 K36 methylation histone H4 K20 methylation chromatin organizationSources Amigo QuickGOOrthologsSpeciesHumanMouseEntrez6432418193EnsemblENSG00000165671ENSMUSG00000021488UniProtQ96L73O88491RefSeq mRNA NM 022455NM 172349NM 001365684NM 008739RefSeq protein NP 071900NP 758859NP 001352613n aLocation UCSC Chr 5 177 13 177 3 MbChr 13 55 36 55 47 MbPubMed search 3 4 WikidataView Edit HumanView Edit MouseReferences edit a b c GRCh38 Ensembl release 89 ENSG00000165671 Ensembl May 2017 a b c GRCm38 Ensembl release 89 ENSMUSG00000021488 Ensembl May 2017 Human PubMed Reference National Center for Biotechnology Information U S National Library of Medicine Mouse PubMed Reference National Center for Biotechnology Information U S National Library of Medicine NSD1 Gene GeneCards human gene database Weizmann Institute of Science Retrieved 31 December 2017 Huang N vom Baur E Garnier JM Lerouge T Vonesch JL Lutz Y Chambon P Losson R June 1998 Two distinct nuclear receptor interaction domains in NSD1 a novel SET protein that exhibits characteristics of both corepressors and coactivators EMBO J 17 12 3398 412 doi 10 1093 emboj 17 12 3398 PMC 1170677 PMID 9628876 Kurotaki N Imaizumi K Harada N Masuno M Kondoh T Nagai T Ohashi H Naritomi K Tsukahara M Makita Y Sugimoto T Sonoda T Hasegawa T Chinen Y Tomita Ha HA Kinoshita A Mizuguchi T Yoshiura Ki K Ohta T Kishino T Fukushima Y Niikawa N Matsumoto N April 2002 Haploinsufficiency of NSD1 causes Sotos syndrome Nat Genet 30 4 365 6 doi 10 1038 ng863 PMID 11896389 S2CID 205357840 Douglas J Hanks S Temple IK Davies S Murray A Upadhyaya M Tomkins S Hughes HE Cole TR Rahman N January 2003 NSD1 mutations are the major cause of Sotos syndrome and occur in some cases of Weaver syndrome but are rare in other overgrowth phenotypes Am J Hum Genet 72 1 132 43 doi 10 1086 345647 PMC 378618 PMID 12464997 External links editGeneReviews NCBI NIH UW entry on Sotos Syndrome NSD1 protein human at the U S National Library of Medicine Medical Subject Headings MeSH NURSA C103 nbsp This article on a gene on human chromosome 5 is a stub You can help Wikipedia by expanding it vte Retrieved from https en wikipedia org w index php title NSD1 amp oldid 1116588721, wikipedia, wiki, book, books, library,
