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SPRTN
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For Research Use Only. Not For Clinical Use.
Background
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]
Protein class
Disease related genes, Human disease related genes
Predicted location
Intracellular
Single cell type specificity
Cell type enhanced (Cone photoreceptor cells, Rod photoreceptor cells)
Immune cell specificity
Low immune cell specificity
Cell line specificity
Low cell line specificity
Interaction
Homodimer (PubMed:30893605). Interacts (VIA PIP-box) with PCNA (when ubiquitinated) (PubMed:22894931, PubMed:22902628, PubMed:22681887, PubMed:23042605, PubMed:23042607, PubMed:22987070, PubMed:27084448). Interacts (via its SHP-box) with VCP/p97 (PubMed:22902628, PubMed:23042605, PubMed:23042607). Interacts with RAD18 (PubMed:22681887). Interacts with KCTD13 and POLD3 (PubMed:22902628).
Molecular function
Hydrolase, Metalloprotease, Protease
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