NSUN2

NSUN2
Identifikatori
Aliasi	NSUN2
Vanjski ID-jevi	OMIM: 610916 MGI: 107252 HomoloGene: 9817 GeneCards: NSUN2
Lokacija gena (čovjek)
Hrom.	Hromosom 5 (čovjek)
Kraj	6,633,291 bp
Lokacija gena (miš)
Hrom.	Hromosom 13 (miš)
Kraj	69,783,899 bp
Ontologija gena
Molekularna funkcija	• GO:0102674, GO:0102675 methyltransferase activity; • aktivnost sa transferazom; • tRNA binding; • tRNA (cytosine-5-)-methyltransferase activity; • vezivanje sa RNK;
Ćelijska komponenta	• citoplazma; • chromatoid body; • Diobeno vreteno; • nukleoplazma; • Jedarce; • citoskelet; • jedro;
Biološki proces	• tRNA methylation; • meiotic cell cycle checkpoint signaling; • Ćelijska dioba; • tRNA modification; • Metilacija; • spermatid development; • ćelijski ciklus; • tRNA processing; • hair follicle maturation;
	Izvori:Amigo / QuickGO
Ortolozi
	54888
	28114
	ENSG00000037474
	ENSMUSG00000021595
	Q08J23
	Q1HFZ0
	NM_001193455; NM_017755
	NM_145354
	NP_001180384; NP_060225
	NP_663329
	Wikipodaci
Pogledaj/uredi – čovjek	Pogledaj/uredi – miš

Član 2 domenske porodice NOP2/Sun jest protein/enzim koji je kod ljudi kodiran genom NSUN2 sa hromosoma 5.^[5] Za ovaj gen zabilježene su alternativno prerađene varijante transkripta koje kodiraju različite izoforme.

Aminokiselinska sekvenca

Protein je metiltransferaza koja katalizira metilaciju citozina u 5-metilcitozin (m5C) na poziciji 34. prekursora tRNK (Leu) (CAA) koji sadrže introne. Ova je izmjena neophodna za stabilizaciju uparivanja antikodon-kodon i pravilno prevođenje iRNK.^[5] NSUN2 je također lokaliziran na mitohondrijama i sposoban je uvesti posttranskripcijske modifikacije u mitohondrijskoj tRNK.^[7]^[8]

U ovom genu pronađene su mutacije povezane sa slučajevima koji liče na Dubowitzov sindrom.^[9]

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000037474 - Ensembl, maj 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000021595 - 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.
^ ^a ^b "NOP2/Sun domain family, member 2". Pristupljeno 4. 12. 2011.
^ "UniProt, Q08J23" (jezik: engleski). Pristupljeno 18. 10. 2021.
^ Shinoda S, Kitagawa S, Nakagawa S, Wei FY, Tomizawa K, Araki K, et al. (juli 2019). "Mammalian NSUN2 introduces 5-methylcytidines into mitochondrial tRNAs". Nucleic Acids Research. 47 (16): 8734–8745. doi:10.1093/nar/gkz575. PMC 6895283. PMID 31287866.
^ Van Haute L, Lee SY, McCann BJ, Powell CA, Bansal D, Vasiliauskaitė L, et al. (juli 2019). "NSUN2 introduces 5-methylcytosines in mammalian mitochondrial tRNAs". Nucleic Acids Research. 47 (16): 8720–8733. doi:10.1093/nar/gkz559. PMC 6822013. PMID 31276587.
^ Martinez FJ, Lee JH, Lee JE, Blanco S, Nickerson E, Gabriel S, et al. (juni 2012). "Whole exome sequencing identifies a splicing mutation in NSUN2 as a cause of a Dubowitz-like syndrome". Journal of Medical Genetics. 49 (6): 380–5. doi:10.1136/jmedgenet-2011-100686. PMC 4771841. PMID 22577224.

Frye M, Dragoni I, Chin SF, Spiteri I, Kurowski A, Provenzano E, et al. (mart 2010). "Genomic gain of 5p15 leads to over-expression of Misu (NSUN2) in breast cancer". Cancer Letters. 289 (1): 71–80. doi:10.1016/j.canlet.2009.08.004. PMID 19740597.
Hussain S, Benavente SB, Nascimento E, Dragoni I, Kurowski A, Gillich A, et al. (juli 2009). "The nucleolar RNA methyltransferase Misu (NSun2) is required for mitotic spindle stability". The Journal of Cell Biology. 186 (1): 27–40. doi:10.1083/jcb.200810180. PMC 2712989. PMID 19596847.
Sakita-Suto S, Kanda A, Suzuki F, Sato S, Takata T, Tatsuka M (mart 2007). "Aurora-B regulates RNA methyltransferase NSUN2". Molecular Biology of the Cell. 18 (3): 1107–17. doi:10.1091/mbc.E06-11-1021. PMC 1805108. PMID 17215513.