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]
^ abcGRCh38: Ensembl release 89: ENSG00000165671 – Ensembl, May 2017
^ abcGRCm38: 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.
NSD1 (Nuclear receptor binding SET Domain Protein 1) is a transcription coregulator protein that encodes Histone Methyltransferase and is associated with...
containing the NSD1 gene. In other populations, small mutations within the NSD1 gene occur more frequently. Genetic changes involving the NSD1 gene prevent...
with mutations in the histone methyltransferase NSD1 gene on chromosome 5q35. The functions of NSD1 are not clearly known, but it is thought to act as...
begins during the later stages of pregnancy. Nevo syndrome is caused by a NSD1 deletion, which encodes for methyltransferase involved with chromatin regulation...
related protein NSA2 encoding protein TGF beta-inducible nuclear protein 1 NSD1: Transcription coregulator protein NSUN2: NOP2/Sun domain family, member...
2008. Buxbaum JD, Cai G, Nygren G, et al. (2007). "Mutation analysis of the NSD1 gene in patients with autism spectrum disorders and macrocephaly". BMC Med...