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SPRTN

From Wikipedia, the free encyclopedia
SPRTN
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesSPRTN, C1orf124, DDDL1880, DVC1, PRO4323, Spartan, dJ876B10.3, SprT-like N-terminal domain
External IDsOMIM: 616086; MGI: 2685351; HomoloGene: 32764; GeneCards: SPRTN; OMA:SPRTN - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001010984
NM_001261462
NM_032018

NM_001111141

RefSeq (protein)

NP_001010984
NP_001248391
NP_114407

NP_001104611

Location (UCSC)Chr 1: 231.34 – 231.36 MbChr 8: 125.62 – 125.63 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Spartan (SPRTN) is a protein that in humans is encoded by the SPRTN gene. It is involved in DNA repair.[5][6][7] 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.[8] 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.[8]

References

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000010072Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000031986Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ Strausberg RL, Feingold EA, Grouse LH, Derge JG, Klausner RD, Collins FS, et al. (December 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.
  6. ^ "Entrez Gene: C1orf124 chromosome 1 open reading frame 124".
  7. ^ 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. doi:10.1093/nar/gks850. PMC 3510514. PMID 22987070.
  8. ^ 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

Further reading

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