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[1] Band 1q42.2 Byrjing 231,337,104 bp[1] Ende 231,355,023 bp[1]
Genplassering (mus) Kromosom Musekromosom 8[2] Band 8|8 E2 Byrjing 125,624,625 bp[2] Ende 125,632,900 bp[2]
RNA-uttrykksmønster Bgee Top expressed in oocyte secondary oocyte kjønnskjertel akillessene stromal cell of endometrium musculus gastrocnemius testikkel lårmuskel Dei langerhanske øyane ventricular zone Meir referanseuttrykksdata BioGPS 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
Art	Menneske	Mus
Entrez	83932	244666
Ensembl	ENSG00000010072	ENSMUSG00000031986
UniProt	Q9H040	G3X912
RefSeq (mRNA)	NM_001010984 NM_001261462 NM_032018	NM_001111141
RefSeq (protein)	NP_001010984 NP_001248391 NP_114407	NP_001104611
Plassering (UCSC)	Chr 1: 231.34 – 231.36 Mb	Chr 8: 125.62 – 125.63 Mb
PubMed-søk	[3]	[4]
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

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

1. GRCh38: Ensembl release 89: ENSG00000010072 - Ensembl, May 2017
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. 
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. 
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. 
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. 
9. 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.  CS1 maint: Multiple names: authors list (link)
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.  CS1 maint: Multiple names: authors list (link)
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.  CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
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.  CS1 maint: Multiple names: authors list (link)

Bakgrunnsstoff

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