SPRTN
Spartan (SPRTN) jest protein koji je kod ljudi kodiran genom SPRTN sa hromosoma 1. Uključen je u popravak DNK.[5][6][7]
Aminokiselinska sekvenca
Dužina polipeptidnog lanca je 489 aminokiselina, a molekulska težina 55.134 Da.[8]
| 10 | 20 | 30 | 40 | 50 | ||||
|---|---|---|---|---|---|---|---|---|
| MDDDLMLALR | LQEEWNLQEA | ERDHAQESLS | LVDASWELVD | PTPDLQALFV | ||||
| QFNDQFFWGQ | LEAVEVKWSV | RMTLCAGICS | YEGKGGMCSI | RLSEPLLKLR | ||||
| PRKDLVETLL | HEMIHAYLFV | TNNDKDREGH | GPEFCKHMHR | INSLTGANIT | ||||
| VYHTFHDEVD | EYRRHWWRCN | GPCQHRPPYY | GYVKRATNRE | PSAHDYWWAE | ||||
| HQKTCGGTYI | KIKEPENYSK | KGKGKAKLGK | EPVLAAENKD | KPNRGEAQLV | ||||
| IPFSGKGYVL | GETSNLPSPG | KLITSHAINK | TQDLLNQNHS | ANAVRPNSKI | ||||
| KVKFEQNGSS | KNSHLVSPAV | SNSHQNVLSN | YFPRVSFANQ | KAFRGVNGSP | ||||
| RISVTVGNIP | KNSVSSSSQR | RVSSSKISLR | NSSKVTESAS | VMPSQDVSGS | ||||
| EDTFPNKRPR | LEDKTVFDNF | FIKKEQIKSS | GNDPKYSTTT | AQNSSSSSSQ | ||||
| SKMVNCPVCQ | NEVLESQINE | HLDWCLEGDS | IKVKSEESL |
Funkcija
Kao posljedica mutacije u genu SPRTN, koji kodira metaloproteinazu za popravke prekida proteina, nastaje Ruijs-Aalfsov sindrom .[9] To je autosomno recesivni genetički poremećaj. Obilježja ovog poremećaja su znaci preuranjenog starenja, nestabilnost hromosoma i razvoj hepatoćelijskog karcinoma.[9]
Reference
- ^ a b c GRCh38: Ensembl release 89: ENSG00000010072 - Ensembl, maj 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000031986 - 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.
- ^ Strausberg RL, Feingold EA, Grouse LH, Derge JG, Klausner RD, Collins FS, et al. (decembar 2002). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proceedings of the National Academy of Sciences of the United States of America. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
- ^ "Entrez Gene: C1orf124 chromosome 1 open reading frame 124".
- ^ Juhasz S, Balogh D, Hajdu I, Burkovics P, Villamil MA, Zhuang Z, Haracska L (novembar 2012). "Characterization of human Spartan/C1orf124, an ubiquitin-PCNA interacting regulator of DNA damage tolerance". Nucleic Acids Research. 40 (21): 10795–808. doi:10.1093/nar/gks850. PMC 3510514. PMID 22987070.
- ^ "UniProt, Q9H040" (jezik: engleski). Pristupljeno 20. 12. 2020.
- ^ a b Abugable AA, Morris JLM, Palminha NM, Zaksauskaite R, Ray S, El-Khamisy SF. DNA repair and neurological disease: From molecular understanding to the development of diagnostics and model organisms. DNA Repair (Amst). 2019 Sep;81:102669. doi: 10.1016/j.dnarep.2019.102669. Epub 2019 Jul 8. Review. PMID 31331820
Dopunska literatura
- Hartley JL, Temple GF, Brasch MA (novembar 2000). "DNA cloning using in vitro site-specific recombination". Genome Research. 10 (11): 1788–95. doi:10.1101/gr.143000. PMC 310948. PMID 11076863.
- Wiemann S, Weil B, Wellenreuther R, Gassenhuber J, Glassl S, Ansorge W, Böcher M, Blöcker H, Bauersachs S, Blum H, Lauber J, Düsterhöft A, Beyer A, Köhrer K, Strack N, Mewes HW, Ottenwälder B, Obermaier B, Tampe J, Heubner D, Wambutt R, Korn B, Klein M, Poustka A (mart 2001). "Toward a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs". Genome Research. 11 (3): 422–35. doi:10.1101/gr.GR1547R. PMC 311072. PMID 11230166.
- Simpson JC, Wellenreuther R, Poustka A, Pepperkok R, Wiemann S (septembar 2000). "Systematic subcellular localization of novel proteins identified by large-scale cDNA sequencing". EMBO Reports. 1 (3): 287–92. doi:10.1093/embo-reports/kvd058. PMC 1083732. PMID 11256614.
- Clark HF, Gurney AL, Abaya E, Baker K, Baldwin D, Brush J, Chen J, Chow B, Chui C, Crowley C, Currell B, Deuel B, Dowd P, Eaton D, Foster J, Grimaldi C, Gu Q, Hass PE, Heldens S, Huang A, Kim HS, Klimowski L, Jin Y, Johnson S, Lee J, Lewis L, Liao D, Mark M, Robbie E, Sanchez C, Schoenfeld J, Seshagiri S, Simmons L, Singh J, Smith V, Stinson J, Vagts A, Vandlen R, Watanabe C, Wieand D, Woods K, Xie MH, Yansura D, Yi S, Yu G, Yuan J, Zhang M, Zhang Z, Goddard A, Wood WI, Godowski P, Gray A (oktobar 2003). "The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment". Genome Research. 13 (10): 2265–70. doi:10.1101/gr.1293003. PMC 403697. PMID 12975309.
- Colland F, Jacq X, Trouplin V, Mougin C, Groizeleau C, Hamburger A, Meil A, Wojcik J, Legrain P, Gauthier JM (juli 2004). "Functional proteomics mapping of a human signaling pathway". Genome Research. 14 (7): 1324–32. doi:10.1101/gr.2334104. PMC 442148. PMID 15231748.
- Wiemann S, Arlt D, Huber W, Wellenreuther R, Schleeger S, Mehrle A, Bechtel S, Sauermann M, Korf U, Pepperkok R, Sültmann H, Poustka A (oktobar 2004). "From ORFeome to biology: a functional genomics pipeline". Genome Research. 14 (10B): 2136–44. doi:10.1101/gr.2576704. PMC 528930. PMID 15489336.
- Rual JF, Venkatesan K, Hao T, Hirozane-Kishikawa T, Dricot A, Li N, Berriz GF, Gibbons FD, Dreze M, Ayivi-Guedehoussou N, Klitgord N, Simon C, Boxem M, Milstein S, Rosenberg J, Goldberg DS, Zhang LV, Wong SL, Franklin G, Li S, Albala JS, Lim J, Fraughton C, Llamosas E, Cevik S, Bex C, Lamesch P, Sikorski RS, Vandenhaute J, Zoghbi HY, Smolyar A, Bosak S, Sequerra R, Doucette-Stamm L, Cusick ME, Hill DE, Roth FP, Vidal M (oktobar 2005). "Towards a proteome-scale map of the human protein-protein interaction network". Nature. 437 (7062): 1173–8. Bibcode:2005Natur.437.1173R. doi:10.1038/nature04209. PMID 16189514. S2CID 4427026.
- Mehrle A, Rosenfelder H, Schupp I, del Val C, Arlt D, Hahne F, Bechtel S, Simpson J, Hofmann O, Hide W, Glatting KH, Huber W, Pepperkok R, Poustka A, Wiemann S (januar 2006). "The LIFEdb database in 2006". Nucleic Acids Research. 34 (Database issue): D415–8. doi:10.1093/nar/gkj139. PMC 1347501. PMID 16381901.
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