Biology:SPRTN
From HandWiki
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Spartan (SPRTN) is a protein that in humans is encoded by the SPRTN gene. It is involved in DNA repair.[1][2][3] Ruijs-Aalfs syndrome is an autosomal recessive genetic disorder. Characteristics of this disorder are features of premature aging, chromosome instability and development of hepatocellular carcinoma.[4] Ruijs-Aalfs syndrome arises as a result of mutations in the SPRTN gene that encodes a metalloproteinase employed in the repair of protein-linked DNA breaks.[4]
References
- ↑ "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. December 2002. doi:10.1073/pnas.242603899. PMID 12477932. Bibcode: 2002PNAS...9916899M.
- ↑ "Entrez Gene: C1orf124 chromosome 1 open reading frame 124". https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=83932.
- ↑ "Characterization of human Spartan/C1orf124, an ubiquitin-PCNA interacting regulator of DNA damage tolerance". Nucleic Acids Research 40 (21): 10795–808. November 2012. doi:10.1093/nar/gks850. PMID 22987070.
- ↑ 4.0 4.1 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
Further reading
- "DNA cloning using in vitro site-specific recombination". Genome Research 10 (11): 1788–95. November 2000. doi:10.1101/gr.143000. PMID 11076863.
- "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. March 2001. doi:10.1101/gr.GR1547R. PMID 11230166.
- "Systematic subcellular localization of novel proteins identified by large-scale cDNA sequencing". EMBO Reports 1 (3): 287–92. September 2000. doi:10.1093/embo-reports/kvd058. PMID 11256614.
- "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. October 2003. doi:10.1101/gr.1293003. PMID 12975309.
- "Functional proteomics mapping of a human signaling pathway". Genome Research 14 (7): 1324–32. July 2004. doi:10.1101/gr.2334104. PMID 15231748.
- "From ORFeome to biology: a functional genomics pipeline". Genome Research 14 (10B): 2136–44. October 2004. doi:10.1101/gr.2576704. PMID 15489336.
- "Towards a proteome-scale map of the human protein-protein interaction network". Nature 437 (7062): 1173–8. October 2005. doi:10.1038/nature04209. PMID 16189514. Bibcode: 2005Natur.437.1173R.
- "The LIFEdb database in 2006". Nucleic Acids Research 34 (Database issue): D415–8. January 2006. doi:10.1093/nar/gkj139. PMID 16381901.
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