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]

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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)[1] Band 1q42.2 Start 231,337,104 bp[1] End 231,355,023 bp[1]
Gene location (Mouse) Chr. Chromosome 8 (mouse)[2] Band 8|8 E2 Start 125,624,625 bp[2] End 125,632,900 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) 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 BioGPS 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 Species Human Mouse 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 Mb Chr 8: 125.62 – 125.63 Mb PubMed search [3] [4]
Wikidata
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