SPRTN

Also known as C1orf124, DDDL1880, DVC1, PRO4323, Spartan, dJ876B10.3, SprT-like N-terminal domain

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.

Gene data

SPRTN

Name: SprT-like N-terminal domain
Type: protein-coding
Position: 231,337,104–231,355,023 (+)
Aliases: C1orf124, DVC1, PRO4323, spartan
Ensembl: ENSG00000010072
RefSeq RNA: NM_001010984.4, NM_001261462.3, NM_032018.7, XM_006711818.4, XM_054339011.1
RefSeq protein: NP_001010984.1, NP_001248391.1, NP_114407.3, XP_006711881.1, XP_054194986.1

The protein encoded by this gene may play a role in DNA repair during replication of damaged DNA. This protein recruits valosin containing protein (p97) to stalled DNA replication forks where it may prevent excessive translesional DNA synthesis and limit the number of DNA-damage induced mutations. It may also be involved in replication-related G2/M-checkpoint regulation. Deficiency of a similar protein in mouse causes chromosomal instability and progeroid phenotypes. Mutations in this gene have been associated with Ruijs-Aalfs syndrome (RJALS). Alternatively spliced transcript variants have been identified. [provided by RefSeq, Mar 2015].