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; OMA:SPRTN - orthologs
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
	oocyte; ; secondary oocyte; ; gonad; ; Achilles tendon; ; stromal cell of endometrium; ; gastrocnemius muscle; ; testicle; ; muscle of thigh; ; islet of Langerhans; ; ventricular zone;
	Top expressed in
	spermatocyte; ; seminiferous tubule; ; secondary oocyte; ; primary oocyte; ; spermatid; ; renal corpuscle; ; medullary collecting duct; ; zygote; ; condyle; ; conjunctival fornix;
	More reference expression data
	n/a
Gene ontology
Molecular function	DNA binding; K63-linked polyubiquitin modification-dependent protein binding; 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

Spartan (SPRTN) is a protein that in humans is encoded by the SPRTN gene. It is involved in DNA repair. 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. 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.