SPRTN
proteinkodande gen hos arten Homo sapiens
Spartan er eit protein som hos menneske er koda for av genet SPRTN. Det høyrer til proteinfamilien med same namn.[5]
SPRTN | |||||||||||||||||||||||||
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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 | ||||||||||||||||||||||||
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Art | Menneske | Mus | |||||||||||||||||||||||
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Plassering (UCSC) | Chr 1: 231.34 – 231.36 Mb | Chr 8: 125.62 – 125.63 Mb | |||||||||||||||||||||||
PubMed-søk | [3] | [4] | |||||||||||||||||||||||
Wikidata | |||||||||||||||||||||||||
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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
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