SPRTN gene

SprT-like N-terminal domain

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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]

From UniProt:

Regulator of UV-induced DNA damage response: acts as a 'reader' of ubiquitinated PCNA that enhances RAD18-mediated PCNA ubiquitination and translesion DNA synthesis (TLS). Recruited to sites of UV damage and interacts with ubiquitinated PCNA and RAD18, the E3 ubiquitin ligase that monoubiquitinates PCNA. Facilitates chromatin association of RAD18 and is required for efficient PCNA monoubiquitination, promoting a feed-forward loop to enhance PCNA ubiquitination and translesion DNA synthesis. Acts as a regulator of TLS by recruiting VCP/p97 to sites of DNA damage, possibly leading to extraction of DNA polymerase eta (POLH) by VCP/p97 to prevent excessive translesion DNA synthesis and limit the incidence of mutations induced by DNA damage.

From NCBI Gene:

  • Ruijs-aalfs syndrome

From UniProt:

Ruijs-Aalfs syndrome (RJALS): A syndrome characterized by genomic instability, progeroid features, and susceptibility toward early onset hepatocellular carcinoma. [MIM:616200]

Cytogenetic Location: 1q42.12-q43, which is the long (q) arm of chromosome 1 between positions 42.12 and 43

Molecular Location: base pairs 231,337,936 to 231,355,029 on chromosome 1 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 1q42.12-q43, which is the long (q) arm of chromosome 1 between positions 42.12 and 43
  • C1orf124
  • DVC1
  • PRO4323
  • spartan