NSD1

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)
End	177,300,213 bp
Gene location (Mouse)
Chr.	Chromosome 13 (mouse)
End	55,466,138 bp
RNA expression pattern
	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
	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
	64324
	18193
	ENSG00000165671
	ENSMUSG00000021488
	Q96L73
	O88491
	NM_022455 ; NM_172349 ; NM_001365684
	NM_008739
	NP_071900 ; NP_758859 ; NP_001352613
	n/a
	Wikidata
View/Edit Human	View/Edit Mouse

Last updated July 18, 2025

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]

References

1 2 3 GRCh38: Ensembl release 89: ENSG00000165671 – Ensembl, May 2017
1 2 3 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

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

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[refGRCh38Ensembl-1] 1 2 3 GRCh38: Ensembl release 89: ENSG00000165671 – Ensembl, May 2017

[refGRCm38Ensembl-2] 1 2 3 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.

[pmid9628876-6] 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.

[pmid11896389-7] 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.

[pmid12464997-8] 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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