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NSD1

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NSD1
Dostupne strukture
PDBPretraga ortologa: PDBe RCSB
Spisak PDB ID kodova

3OOI

Identifikatori
AliasiNSD1
Vanjski ID-jeviOMIM: 606681 MGI: 1276545 HomoloGene: 32543 GeneCards: NSD1
Lokacija gena (čovjek)
Hromosom 5 (čovjek)
Hrom.Hromosom 5 (čovjek)[1]
Hromosom 5 (čovjek)
Genomska lokacija za NSD1
Genomska lokacija za NSD1
Bend5q35.3Početak177,131,830 bp[1]
Kraj177,300,213 bp[1]
Lokacija gena (miš)
Hromosom 13 (miš)
Hrom.Hromosom 13 (miš)[2]
Hromosom 13 (miš)
Genomska lokacija za NSD1
Genomska lokacija za NSD1
Bend13|13 B1Početak55,357,595 bp[2]
Kraj55,466,138 bp[2]
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
VrsteČovjekMiš
Entrez
Ensembl
UniProt
RefSeq (mRNK)

NM_022455
NM_172349
NM_001365684

NM_008739

RefSeq (bjelančevina)

NP_071900
NP_758859
NP_001352613

n/a

Lokacija (UCSC)Chr 5: 177.13 – 177.3 MbChr 13: 55.36 – 55.47 Mb
PubMed pretraga[3][4]
Wikipodaci
Pogledaj/uredi – čovjekPogledaj/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 NDS1 nalazi se u lokusu 5q.35 hromosoma 5. Sadrži 23 egzona

Protein

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Dijagram gena/proteina NDS1. Prema Tatton-Brown et al., 2007

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, PHDI–PHDV), 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

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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

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000165671 - Ensembl, maj 2017
  2. ^ a b c 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.
  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.
  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.
  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.
  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)
  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)
  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)

Vanjski linkovi

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