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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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