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

NSD1 (Nuclear receptor binding SET Domain Protein 1) is a transcription coregulator protein that encodes Histone Methyltransferase and is associated with Sotos syndrome and Weaver syndrome.