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NSD1
Dostupne strukture
PDB	Pretraga ortologa: PDBe RCSB
Spisak PDB ID kodova
	3OOI
Identifikatori
Aliasi	NSD1
Vanjski ID-jevi	OMIM: 606681 MGI: 1276545 HomoloGene: 32543 GeneCards: NSD1
Lokacija gena (čovjek)
Hrom.	Hromosom 5 (čovjek)
Kraj	177,300,213 bp
Lokacija gena (miš)
Hrom.	Hromosom 13 (miš)
Kraj	55,466,138 bp
Ontologija gena
Molekularna funkcija	• GO:0102674, GO:0102675 methyltransferase activity; • aktivnost sa transferazom; • histone methyltransferase activity (H4-K20 specific); • GO:0001106 transcription corepressor activity; • chromatin binding; • GO:0001104 transcription coregulator activity; • vezivanje iona metala; • 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); • vezivanje iona cinka; • GO:0001948, GO:0016582 vezivanje za proteine; • GO:0000980 RNA polymerase II cis-regulatory region sequence-specific DNA binding;
Ćelijska komponenta	• nukleoplazma; • hromosom; • jedro; • Hromatin;
Biološki proces	• GO:0009373 regulation of transcription, DNA-templated; • GO:1901227 negative regulation of transcription by RNA polymerase II; • transcription, DNA-templated; • GO:0060469, GO:0009371 positive regulation of transcription, DNA-templated; • Metilacija; • regulation of peptidyl-serine phosphorylation; • regulation of histone H3-K36 methylation; • histone lysine methylation; • Metilacija histona; • regulation of RNA polymerase II regulatory region sequence-specific DNA binding; • histone H3-K36 methylation; • histone H4-K20 methylation; • GO:0031497, GO:0006336, GO:0034724, GO:0001301, GO:0007580, GO:0034652, GO:0010847 chromatin organization;
	Izvori:Amigo / QuickGO
Ortolozi
	64324
	18193
	ENSG00000165671
	ENSMUSG00000021488
	Q96L73
	O88491
	NM_022455; NM_172349; NM_001365684
	NM_008739
	NP_071900; NP_758859; NP_001352613
	n/a
	Wikipodaci
Pogledaj/uredi – čovjek	Pogledaj/uredi – miš

NSD1 (eng. skr. od Nuclear receptor binding SET Domain protein 1 = protein 1 jedarnog receptora vezanog za domen SET)^[5] je transkripcijski koregulacijski protein^[6] koji kodira histon-metiltransferazu, pridruženu Sotosovom^[7] i Weaverovom sindromu.^[8]

Gen

Gen NDS1 nalazi se u lokusu 5q.35 hromosoma 5. Sadrži 23 egzona

Protein

Protein NSD1 sadrži niz funkcionalnih proteinskih domena, uključujući dva različita domena interakcije jedarnih receptora (NID): NID^+L i NID^–L, pet homeodomena koje sadrže motiv cinkovog prsta (biljni domeni biljaka cinkovih prstiju, PHD_I–PHD_V), dva domena Pro-Trp-Trp-Pro, domen SET (Su (var) 3–9 , pojačivač Zeste i Trithorax), prateći domen SET bogata cisteinom (SAC) i motiv C5HCH.

Do sada je funkcija proteina NSD1 u ćeliji relativno slabo razumljiva. Vjerojatno ima ulogu u regulaciji transkripcije specifičnom metilacijom histonskih lizina (ostaci H3-K36 i H4-K20, preko SET i SAC domena), vežući se za jedarne receptore putem NIDdomena^+L i NID^–L) i interakcije hromatin – hromatin posredovane PHD i C5HCH domenama ^[9].

Klinički značaj

Mutacije gena NSD1 pronađene su u više od 90% pacijenata sa Sotosovim sindromom.^[10] Mutacije ovog gena nađene su i kod nekih pacijenata sa Weaverovim sindromom.^[11].

Reference

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000165671 - Ensembl, maj 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000021488 - Ensembl, maj 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. Pristupljeno 31. 12. 2017.
^ Huang N, vom Baur E, Garnier JM, Lerouge T, Vonesch JL, Lutz Y, Chambon P, Losson R (juni 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 (januar 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.
^ Stec I, Nagl SB, van Ommen GJ, den Dunnen JT (2000). "The PWWP domain: a potential protein-protein interaction domain in nuclear proteins influencing differentiation?". FEBS Lett (473): 1–5. PMID 10802047.CS1 održavanje: više imena: authors list (link)
^ Tatton-Brown, K, Rahman, N (2007). "Sotos syndrome". European Journal of Human Genetics (15): 264–271. PMID 16969376.CS1 održavanje: više imena: authors list (link)
^ Douglas J, Hanks S, Temple IK, + (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. PMID 12464997.CS1 održavanje: više imena: authors list (link)

Vanjski linkovi

OMIM: {{{1}}}
GeneReviews/NCBI/NIH/UW entry on Sotos Syndrome
NSD1 protein, human na US National Library of Medicine Medical Subject Headings (MeSH)

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000165671 - Ensembl, maj 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000021488 - Ensembl, maj 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. Pristupljeno 31. 12. 2017.

[pmid9628876-6] Huang N, vom Baur E, Garnier JM, Lerouge T, Vonesch JL, Lutz Y, Chambon P, Losson R (juni 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 (januar 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.

[stec-9] Stec I, Nagl SB, van Ommen GJ, den Dunnen JT (2000). "The PWWP domain: a potential protein-protein interaction domain in nuclear proteins influencing differentiation?". FEBS Lett (473): 1–5. PMID 10802047.CS1 održavanje: više imena: authors list (link)

[tatton-10] Tatton-Brown, K, Rahman, N (2007). "Sotos syndrome". European Journal of Human Genetics (15): 264–271. PMID 16969376.CS1 održavanje: više imena: authors list (link)

[douglas-11] Douglas J, Hanks S, Temple IK, + (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. PMID 12464997.CS1 održavanje: više imena: authors list (link)

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