NSD1: Difference between revisions

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{{infobox protein
{{infobox gene}}
|Name=nuclear receptor binding SET domain protein 1
'''NSD1''' ([[Nuclear receptor]] binding [[SET domain|SET Domain]] Protein 1)<ref>{{cite web|title=NSD1 Gene|url=https://www.genecards.org/cgi-bin/carddisp.pl?gene=NSD1|website=GeneCards human gene database|publisher=Weizmann Institute of Science|accessdate=31 December 2017}}</ref>is a [[transcription coregulator]] [[protein]]<ref name="pmid9628876">{{cite journal | vauthors = Huang N, vom Baur E, Garnier JM, Lerouge T, Vonesch JL, Lutz Y, Chambon P, Losson R | title = Two distinct nuclear receptor interaction domains in NSD1, a novel SET protein that exhibits characteristics of both corepressors and coactivators | journal = EMBO J. | volume = 17 | issue = 12 | pages = 3398–412 |date=June 1998 | pmid = 9628876 | pmc = 1170677 | doi = 10.1093/emboj/17.12.3398 | url =  }}</ref> associated with [[Sotos syndrome]]<ref name="pmid11896389">{{cite journal | vauthors = 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 | title = Haploinsufficiency of NSD1 causes Sotos syndrome | journal = Nat. Genet. | volume = 30 | issue = 4 | pages = 365–6 |date=April 2002 | pmid = 11896389 | doi = 10.1038/ng863 | url =  }}</ref> and [[Weaver syndrome]].<ref name="pmid12464997">{{cite journal | vauthors = Douglas J, Hanks S, Temple IK, Davies S, Murray A, Upadhyaya M, Tomkins S, Hughes HE, Cole TR, Rahman N | title = NSD1 mutations are the major cause of Sotos syndrome and occur in some cases of Weaver syndrome but are rare in other overgrowth phenotypes | journal = Am. J. Hum. Genet. | volume = 72 | issue = 1 | pages = 132–43 |date=January 2003 | pmid = 12464997 | pmc = 378618 | doi = 10.1086/345647| url =  }}</ref>
|caption=
|image=
|width=
|HGNCid=14234
|Symbol=NSD1
|AltSymbols=STO
|EntrezGene=64324
|OMIM=606681
|RefSeq=NM_172349
|UniProt=Q96L73
|PDB=
|ECnumber=
|Chromosome=5
|Arm=q
|Band=35
|LocusSupplementaryData=
}}
'''NSD1''' is a [[transcription coregulator]] [[protein]]<ref name="pmid9628876">{{cite journal | vauthors = Huang N, vom Baur E, Garnier JM, Lerouge T, Vonesch JL, Lutz Y, Chambon P, Losson R | title = Two distinct nuclear receptor interaction domains in NSD1, a novel SET protein that exhibits characteristics of both corepressors and coactivators | journal = EMBO J. | volume = 17 | issue = 12 | pages = 3398–412 |date=June 1998 | pmid = 9628876 | pmc = 1170677 | doi = 10.1093/emboj/17.12.3398 | url =  }}</ref> associated with [[Sotos syndrome]]<ref name="pmid11896389">{{cite journal | vauthors = 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 | title = Haploinsufficiency of NSD1 causes Sotos syndrome | journal = Nat. Genet. | volume = 30 | issue = 4 | pages = 365–6 |date=April 2002 | pmid = 11896389 | doi = 10.1038/ng863 | url =  }}</ref> and [[Weaver syndrome]].<ref name="pmid12464997">{{cite journal | vauthors = Douglas J, Hanks S, Temple IK, Davies S, Murray A, Upadhyaya M, Tomkins S, Hughes HE, Cole TR, Rahman N | title = NSD1 mutations are the major cause of Sotos syndrome and occur in some cases of Weaver syndrome but are rare in other overgrowth phenotypes | journal = Am. J. Hum. Genet. | volume = 72 | issue = 1 | pages = 132–43 |date=January 2003 | pmid = 12464997 | pmc = 378618 | doi = 10.1086/345647| url =  }}</ref>


==References==
==References==

Latest revision as of 16:31, 8 April 2018

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Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez

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Ensembl

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UniProt

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RefSeq (mRNA)

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RefSeq (protein)

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Location (UCSC)n/an/a
PubMed searchn/an/a
Wikidata
View/Edit Human

NSD1 (Nuclear receptor binding SET Domain Protein 1)[1]is a transcription coregulator protein[2] associated with Sotos syndrome[3] and Weaver syndrome.[4]

References

  1. ↑ "NSD1 Gene". GeneCards human gene database. Weizmann Institute of Science. Retrieved 31 December 2017.
  2. ↑ 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.
  3. ↑ 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.
  4. ↑ 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


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