POLDIP3
Description
The POLDIP3 (DNA polymerase delta interacting protein 3) is a protein-coding gene located on chromosome 22.
POLDIP3 (Polymerase delta-interacting protein 3) is an enzyme encoded by the POLDIP3 gene in humans. The protein interacts with the DNA polymerase delta p50 subunit and is a specific target of S6 kinase 1. It regulates cell growth. Two transcript variants have been identified, encoding different protein isoforms. POLDIP3 has been shown to interact with P70-S6 Kinase 1.
POLDIP3 plays a role in regulating translation. It preferentially binds to spliced mRNA-protein complexes during the initial round of mRNA translation. This binding enhances the efficiency of translation for spliced mRNAs compared to unspliced ones. POLDIP3 also recruits activated ribosomal protein S6 kinase beta-1 (RPS6KB1) to newly synthesized mRNA. It is involved in nuclear mRNA export, likely through its association with the TREX complex.
POLDIP3 is also known as PDIP3, PDIP46, SKAR.
Associated Diseases
- craniosynostosis-anal anomalies-porokeratosis syndrome
- Lisch epithelial corneal dystrophy
- keratoconus 1
- corneal endothelial dystrophy
- Schnyder corneal dystrophy
- X-linked endothelial corneal dystrophy
- corneal dystrophy, punctiform and polychromatic pre-descemet
- keratoconus
- X-linked corneal dermoid
- autosomal dominant keratitis
- granular corneal dystrophy type I
- epithelial basement membrane dystrophy
- corneal dystrophy, Fuchs endothelial, 3
- corneal dystrophy, Fuchs endothelial, 4
- cataract
