SPRTN

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]

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
Orthologs
SpeciesHumanMouse
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

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

References

  1. GRCh38: Ensembl release 89: ENSG00000010072 - Ensembl, May 2017
  2. GRCm38: Ensembl release 89: ENSMUSG00000031986 - Ensembl, 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. 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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