SPRTN

SPRTN
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	5IY4
Identifiers
Aliases	SPRTN , C1orf124, DDDL1880, DVC1, PRO4323, Spartan, dJ876B10.3, SprT-like N-terminal domain
External IDs	OMIM: 616086 MGI: 2685351 HomoloGene: 32764 GeneCards: SPRTN
Gene location (Human)
Chr.	Chromosome 1 (human)
End	231,355,023 bp
Gene location (Mouse)
Chr.	Chromosome 8 (mouse)
End	125,632,900 bp
RNA expression pattern
	Top expressed in
	testicle; ; Achilles tendon; ; corpus callosum; ; bone marrow; ; gastrocnemius muscle; ; kidney; ; lung; ; islet of Langerhans;
	More reference expression data
	n/a
Gene ontology
Molecular function	DNA binding ; K63-linked polyubiquitin modification-dependent protein binding ; GO:0001948 protein binding ; ubiquitin binding ; metal ion binding ;
Cellular component	nuclear speck ; nucleus ; nucleoplasm ; chromosome ;
Biological process	error-free translesion synthesis ; positive regulation of protein ubiquitination ; response to UV ; cellular response to DNA damage stimulus ; translesion synthesis ; DNA repair ;
	Sources:Amigo / QuickGO
Orthologs
	83932
	244666
	ENSG00000010072
	ENSMUSG00000031986
	Q9H040
	G3X912
	NM_001010984 ; NM_001261462 ; NM_032018
	NM_001111141
	NP_001010984 ; NP_001248391 ; NP_114407
	NP_001104611
	Wikidata
View/Edit Human	View/Edit Mouse

Last updated April 09, 2022

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]

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References

1 2 3 GRCh38: Ensembl release 89: ENSG00000010072 - Ensembl, May 2017
1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000031986 - Ensembl, May 2017
↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ 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.
↑ "Entrez Gene: C1orf124 chromosome 1 open reading frame 124".
↑ 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.
1 2 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

Hartley JL, Temple GF, Brasch MA (November 2000). "DNA cloning using in vitro site-specific recombination". Genome Research. 10 (11): 1788–95. doi:10.1101/gr.143000. PMC 310948 . PMID 11076863.
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Simpson JC, Wellenreuther R, Poustka A, Pepperkok R, Wiemann S (September 2000). "Systematic subcellular localization of novel proteins identified by large-scale cDNA sequencing". EMBO Reports. 1 (3): 287–92. doi:10.1093/embo-reports/kvd058. PMC 1083732 . PMID 11256614.
Clark HF, Gurney AL, Abaya E, Baker K, Baldwin D, Brush J, Chen J, Chow B, Chui C, Crowley C, Currell B, Deuel B, Dowd P, Eaton D, Foster J, Grimaldi C, Gu Q, Hass PE, Heldens S, Huang A, Kim HS, Klimowski L, Jin Y, Johnson S, Lee J, Lewis L, Liao D, Mark M, Robbie E, Sanchez C, Schoenfeld J, Seshagiri S, Simmons L, Singh J, Smith V, Stinson J, Vagts A, Vandlen R, Watanabe C, Wieand D, Woods K, Xie MH, Yansura D, Yi S, Yu G, Yuan J, Zhang M, Zhang Z, Goddard A, Wood WI, Godowski P, Gray A (October 2003). "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. doi:10.1101/gr.1293003. PMC 403697 . PMID 12975309.
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[refGRCh38Ensembl-1] 1 2 3 GRCh38: Ensembl release 89: ENSG00000010072 - Ensembl, May 2017

[refGRCm38Ensembl-2] 1 2 3 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.

[pmid12477932-5] 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.

[entrez-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.

[Abugable-8] 1 2 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

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SPRTN

Related Research Articles

References

Further reading