NSUN2
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
Dužina polipeptidnog lanca je 767 aminokiselina, а molekulska težina 86.471 Da.[6]
| 10 | 20 | 30 | 40 | 50 | ||||
|---|---|---|---|---|---|---|---|---|
| MGRRSRGRRL | QQQQRPEDAE | DGAEGGGKRG | EAGWEGGYPE | IVKENKLFEH | ||||
| YYQELKIVPE | GEWGQFMDAL | REPLPATLRI | TGYKSHAKEI | LHCLKNKYFK | ||||
| ELEDLEVDGQ | KVEVPQPLSW | YPEELAWHTN | LSRKILRKSP | HLEKFHQFLV | ||||
| SETESGNISR | QEAVSMIPPL | LLNVRPHHKI | LDMCAAPGSK | TTQLIEMLHA | ||||
| DMNVPFPEGF | VIANDVDNKR | CYLLVHQAKR | LSSPCIMVVN | HDASSIPRLQ | ||||
| IDVDGRKEIL | FYDRILCDVP | CSGDGTMRKN | IDVWKKWTTL | NSLQLHGLQL | ||||
| RIATRGAEQL | AEGGRMVYST | CSLNPIEDEA | VIASLLEKSE | GALELADVSN | ||||
| ELPGLKWMPG | ITQWKVMTKD | GQWFTDWDAV | PHSRHTQIRP | TMFPPKDPEK | ||||
| LQAMHLERCL | RILPHHQNTG | GFFVAVLVKK | SSMPWNKRQP | KLQGKSAETR | ||||
| ESTQLSPADL | TEGKPTDPSK | LESPSFTGTG | DTEIAHATED | LENNGSKKDG | ||||
| VCGPPPSKKM | KLFGFKEDPF | VFIPEDDPLF | PPIEKFYALD | PSFPRMNLLT | ||||
| RTTEGKKRQL | YMVSKELRNV | LLNNSEKMKV | INTGIKVWCR | NNSGEEFDCA | ||||
| FRLAQEGIYT | LYPFINSRII | TVSMEDVKIL | LTQENPFFRK | LSSETYSQAK | ||||
| DLAKGSIVLK | YEPDSANPDA | LQCPIVLCGW | RGKASIRTFV | PKNERLHYLR | ||||
| MMGLEVLGEK | KKEGVILTNE | SAASTGQPDN | DVTEGQRAGE | PNSPDAEEAN | ||||
| SPDVTAGCDP | AGVHPPR |
Funkcija
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]
Klinički značaj
U ovom genu pronađene su mutacije povezane sa slučajevima koji liče na Dubowitzov sindrom.[9]
Reference
- ^ 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.
Dopunska literatura
- 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.
Vanjski linkovi
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