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 PDB Ortholog search: PDBe RCSB List of PDB id codes 3OOI
Identifiers
Aliases	NSD1, ARA267, KMT3B, SOTOS, SOTOS1, STO, nuclear receptor binding SET domain protein 1
External IDs	OMIM: 606681; MGI: 1276545; HomoloGene: 32543; GeneCards: NSD1; OMA:NSD1 - orthologs
Gene location (Human) Chr. Chromosome 5 (human)[1] Band 5q35.3 Start 177,131,830 bp[1] End 177,300,213 bp[1]
Gene location (Mouse) Chr. Chromosome 13 (mouse)[2] Band 13|13 B1 Start 55,357,595 bp[2] End 55,466,138 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in sural nerve epithelium of colon Achilles tendon ventricular zone testicle ganglionic eminence monocyte sperm tonsil corpus callosum Top expressed in ascending aorta aortic valve genital tubercle tail of embryo Rostral migratory stream pineal gland supraoptic nucleus vas deferens ventricular zone mesenteric lymph nodes More reference expression data BioGPS n/a
Gene ontology Molecular function methyltransferase 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 binding Cellular component nucleoplasm chromosome nucleus chromatin Biological process regulation 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 organization Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 64324 18193 Ensembl ENSG00000165671 ENSMUSG00000021488 UniProt Q96L73 O88491 RefSeq (mRNA) NM_022455 NM_172349 NM_001365684 NM_008739 RefSeq (protein) NP_071900 NP_758859 NP_001352613 n/a Location (UCSC) Chr 5: 177.13 – 177.3 Mb Chr 13: 55.36 – 55.47 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/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. S2CID 205357840.
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.

External links

• GeneReviews/NCBI/NIH/UW entry on Sotos Syndrome
• NSD1 protein, human at the U.S. National Library of Medicine Medical Subject Headings (MeSH)
• NURSA C103