SPRTN

SPRTN
Tilgjengelege strukturar
PDB	Ortologsøk: PDBe RCSB
Liste over PDB-ID-kodar
	5IY4
Identifikatorar
Andre namn	SPRTN, C1orf124, DDDL1880, DVC1, PRO4323, Spartan, dJ876B10.3, SprT-like N-terminal domain
Eksterne ID-ar	OMIM: 616086 MGI: 2685351 HomoloGene: 32764 GeneCards: SPRTN
Genplassering (menneske)
Kromosom	Menneskekromosom 1
Ende	231,355,023 bp
Genplassering (mus)
Kromosom	Musekromosom 8
Ende	125,632,900 bp
RNA-uttrykksmønster
	Top expressed in
	oocyte; ; secondary oocyte; ; akillessene; ; stromal cell of endometrium; ; musculus gastrocnemius; ; Dei langerhanske øyane; ; monocytt; ; glatt muskulatur; ; bone marrow cells; ; ganglionic eminence;
	Meir referanseuttrykksdata
	n/a
Genontologi
Molekylær funksjon	DNA-binding; K63-linked polyubiquitin modification-dependent protein binding; GO:0001948, GO:0016582 proteinbinding; ubikvitinbinding; metallionebinding;
Sellekomponent	nuclear speck; cellekjerne; nukleoplasma; kromosom;
Biologisk prosess	error-free translesion synthesis; positive regulation of protein ubiquitination; respons på UV; cellular response to DNA damage stimulus; translesion synthesis; GO:0100026 DNA-reparasjon;
	Kjelder:Amigo / QuickGO
Ortologar
	83932
	244666
	ENSG00000010072
	ENSMUSG00000031986
	Q9H040
	G3X912
	NM_001010984; NM_001261462; NM_032018
	NM_001111141
	NP_001010984; NP_001248391; NP_114407
	NP_001104611
	Wikidata
sjå/endra menneske	sjå/endra mus

Spartan er eit protein som hos menneske er koda for av genet SPRTN. Det høyrer til proteinfamilien med same namn.^[5]

Proteinet tek del i DNA-reparasjon gjennom aktiv regulering av translesjonssyntese^[6]^[7]^[8]^[9] og gjer mogleg bytet frå replikativ DNA-polymerase til TLS-polymerase langs opphaldne replikasjonsgaflar, slik at det kan fare forbi DNA-lesjonar.^[9] Det er bygd opp av 489 aminosyrer og er kjenneteikna ved eit N-terminalt SprT-likt domene, ein PIP-boks i midten og eit C-terminalt ubikvitin-bindande sinkfingerdomene.^[10]

Homozygote eller samansett heterozygote mutasjonar i genet er knytt til Ruijs-Aalfs syndrom.^[11]^[12]

Kjelder endre

Denne artikkelen bygger på «SPRTN» frå Wikipedia på engelsk, den 1. juli 2017.

↑ ^1,0 ^1,1 ^1,2 GRCh38: Ensembl release 89: ENSG00000010072 - Ensembl, May 2017
↑ ^2,0 ^2,1 ^2,2 GRCm38: Ensembl release 89: ENSMUSG00000031986 - Ensembl, May 2017
↑ «PubMed-kjelde for menneske:». National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ «PubMed-kjelde for mus:». National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ «SprT-like domain-containing protein Spartan». The Universal Protein Resource (UniProt). European Bioinformatics Institute (EMBL-EBI), SIB Swiss Institute of Bioinformatics, Protein Information Resource (PIR). Henta 16. juli 2017.
↑ Strausberg RL, Feingold EA, Grouse LH, Derge JG, Klausner RD, Collins FS, et al. (Desember 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. PMC 139241. PMID 12477932. doi:10.1073/pnas.242603899.
↑ «SPRTN SprT-like N-terminal domain [ Homo sapiens (human) ]». Gene. National Center for Biotechnology Information. 6. juni 2017. Henta 2. juli 2017.
↑ Juhasz S, Balogh D, Hajdu I, Burkovics P, Villamil MA, Zhuang Z, Haracska L (November 2012). «Characterization of human Spartan/C1orf124, an ubiquitin-PCNA interacting regulator of DNA damage tolerance». Nucleic Acids Research 40 (21): 10795–808. PMC 3510514. PMID 22987070. doi:10.1093/nar/gks850.
↑ ^9,0 ^9,1 Ghosal G, Leung JW, Nair BC, Fong KW, Chen J (2012). «Proliferating cell nuclear antigen (PCNA)-binding protein C1orf124 is a regulator of translesion synthesis.». J Biol Chem 287 (41): 34225–33. PMC 3464530. PMID 22902628. doi:10.1074/jbc.M112.400135.
↑ Centore RC, Yazinski SA, Tse A, Zou L (2012). «Spartan/C1orf124, a reader of PCNA ubiquitylation and a regulator of UV-induced DNA damage response.». Mol Cell 46 (5): 625–35. PMC 3575090. PMID 22681887. doi:10.1016/j.molcel.2012.05.020.
↑ Lessel D, Vaz B, Halder S, Lockhart PJ, Marinovic-Terzic I, Lopez-Mosqueda J; et al. (2014). «Mutations in SPRTN cause early onset hepatocellular carcinoma, genomic instability and progeroid features.». Nat Genet 46 (11): 1239–44. PMC 4343211. PMID 25261934. doi:10.1038/ng.3103.
↑ Ruijs MW, van Andel RN, Oshima J, Madan K, Nieuwint AW, Aalfs CM (2003). «Atypical progeroid syndrome: an unknown helicase gene defect?». Am J Med Genet A 116A (3): 295–9. PMID 12503110. doi:10.1002/ajmg.a.10730.

Bakgrunnsstoff endre

Hartley JL, Temple GF, Brasch MA (November 2000). «DNA cloning using in vitro site-specific recombination». Genome Research 10 (11): 1788–95. PMC 310948. PMID 11076863. doi:10.1101/gr.143000.
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 (March 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. PMC 311072. PMID 11230166. doi:10.1101/gr.GR1547R.
Simpson JC, Wellenreuther R, Poustka A, Pepperkok R, Wiemann S (September 2000). «Systematic subcellular localization of novel proteins identified by large-scale cDNA sequencing». EMBO Reports 1 (3): 287–92. PMC 1083732. PMID 11256614. doi:10.1093/embo-reports/kvd058.
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 (October 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. PMC 403697. PMID 12975309. doi:10.1101/gr.1293003.
Colland F, Jacq X, Trouplin V, Mougin C, Groizeleau C, Hamburger A, Meil A, Wojcik J, Legrain P, Gauthier JM (July 2004). «Functional proteomics mapping of a human signaling pathway». Genome Research 14 (7): 1324–32. PMC 442148. PMID 15231748. doi:10.1101/gr.2334104.
Wiemann S, Arlt D, Huber W, Wellenreuther R, Schleeger S, Mehrle A, Bechtel S, Sauermann M, Korf U, Pepperkok R, Sültmann H, Poustka A (October 2004). «From ORFeome to biology: a functional genomics pipeline». Genome Research 14 (10B): 2136–44. PMC 528930. PMID 15489336. doi:10.1101/gr.2576704.
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 (October 2005). «Towards a proteome-scale map of the human protein-protein interaction network». Nature 437 (7062): 1173–8. PMID 16189514. doi:10.1038/nature04209.
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 (January 2006). «The LIFEdb database in 2006». Nucleic Acids Research 34 (Database issue): D415–8. PMC 1347501. PMID 16381901. doi:10.1093/nar/gkj139.

[refGRCh38Ensembl-1] 1,0 ^1,1 ^1,2 GRCh38: Ensembl release 89: ENSG00000010072 - Ensembl, May 2017

[refGRCm38Ensembl-2] 2,0 ^2,1 ^2,2 GRCm38: Ensembl release 89: ENSMUSG00000031986 - Ensembl, May 2017

[3] «PubMed-kjelde for menneske:». National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] «PubMed-kjelde for mus:». National Center for Biotechnology Information, U.S. National Library of Medicine.

[up-sprtn-5] «SprT-like domain-containing protein Spartan». The Universal Protein Resource (UniProt). European Bioinformatics Institute (EMBL-EBI), SIB Swiss Institute of Bioinformatics, Protein Information Resource (PIR). Henta 16. juli 2017.

[pmid12477932-6] Strausberg RL, Feingold EA, Grouse LH, Derge JG, Klausner RD, Collins FS, et al. (Desember 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. PMC 139241. PMID 12477932. doi:10.1073/pnas.242603899.

[gene-sprtn-7] «SPRTN SprT-like N-terminal domain [ Homo sapiens (human) ]». Gene. National Center for Biotechnology Information. 6. juni 2017. Henta 2. juli 2017.

[8] Juhasz S, Balogh D, Hajdu I, Burkovics P, Villamil MA, Zhuang Z, Haracska L (November 2012). «Characterization of human Spartan/C1orf124, an ubiquitin-PCNA interacting regulator of DNA damage tolerance». Nucleic Acids Research 40 (21): 10795–808. PMC 3510514. PMID 22987070. doi:10.1093/nar/gks850.

[pmid22902628-9] 9,0 ^9,1 Ghosal G, Leung JW, Nair BC, Fong KW, Chen J (2012). «Proliferating cell nuclear antigen (PCNA)-binding protein C1orf124 is a regulator of translesion synthesis.». J Biol Chem 287 (41): 34225–33. PMC 3464530. PMID 22902628. doi:10.1074/jbc.M112.400135.

[pmid22681887-10] Centore RC, Yazinski SA, Tse A, Zou L (2012). «Spartan/C1orf124, a reader of PCNA ubiquitylation and a regulator of UV-induced DNA damage response.». Mol Cell 46 (5): 625–35. PMC 3575090. PMID 22681887. doi:10.1016/j.molcel.2012.05.020.

[pmid25261934-11] Lessel D, Vaz B, Halder S, Lockhart PJ, Marinovic-Terzic I, Lopez-Mosqueda J; et al. (2014). «Mutations in SPRTN cause early onset hepatocellular carcinoma, genomic instability and progeroid features.». Nat Genet 46 (11): 1239–44. PMC 4343211. PMID 25261934. doi:10.1038/ng.3103.

[pmid12503110-12] Ruijs MW, van Andel RN, Oshima J, Madan K, Nieuwint AW, Aalfs CM (2003). «Atypical progeroid syndrome: an unknown helicase gene defect?». Am J Med Genet A 116A (3): 295–9. PMID 12503110. doi:10.1002/ajmg.a.10730.

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