NSD1

Mammalian protein found in Homo sapiens

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]
Band	5q35.3	End	177,300,213 bp^[1]

Gene location (Mouse)

Chr.	Chromosome 13 (mouse)^[2]

Band	13\|13 B1	Start	55,357,595 bp^[2]
Band	13\|13 B1	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

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

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000165671 – Ensembl, May 2017
^ ^a ^b ^c 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.