NSD1

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]

NSD1
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesNSD1, ARA267, KMT3B, SOTOS, SOTOS1, STO, nuclear receptor binding SET domain protein 1
External IDsOMIM: 606681 MGI: 1276545 HomoloGene: 32543 GeneCards: NSD1
Gene location (Human)
Chr.Chromosome 5 (human)[1]
Band5q35.3Start177,133,025 bp[1]
End177,300,215 bp[1]
Orthologs
SpeciesHumanMouse
Entrez

64324

18193

Ensembl

ENSG00000165671

ENSMUSG00000021488

UniProt

Q96L73

O88491

RefSeq (mRNA)

NM_022455
NM_172349

NM_008739

RefSeq (protein)

NP_071900
NP_758859
NP_001352613

n/a

Location (UCSC)Chr 5: 177.13 – 177.3 MbChr 13: 55.21 – 55.32 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

References

  1. GRCh38: Ensembl release 89: ENSG00000165671 - Ensembl, May 2017
  2. GRCm38: Ensembl release 89: ENSMUSG00000021488 - Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. "NSD1 Gene". GeneCards human gene database. Weizmann Institute of Science. Retrieved 31 December 2017.
  6. 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.
  7. 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.
  8. 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.


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