SPRTN

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]

Description

SprT-like N-terminal domain

Tissue specificity

Low tissue specificity

Subcell location

Nucleoplasm

Predicted location

Intracellular

Protein family

Disease related genes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Predicted intracellular proteins

Chromosome

1 (231337104 - 231355023)

Ensembl ID

ENSG00000010072  (ver. 103.38)

Orthologs

Mouse Sprtn: ENSMUSG00000031986

UniProt

Q9H040

neXtProt

NX_Q9H040

Human splice variants
Mouse splice variants

Protein structure