KPNA7 (karyopherin subunit alpha 7) is a nuclear import receptor that recognizes and binds nuclear localization signals (NLSs) in cargo proteins to facilitate their transport from the cytoplasm to the nucleus 1. As a member of the importin-α family, KPNA7 forms complexes with importin-β to mediate protein translocation 2. The protein functions as an oocyte-specific maternal factor with epigenetic regulation via DNA methylation at the promoter and miRNA-1296-mediated degradation during embryonic development 3. Clinically, KPNA7 mutations contribute to preimplantation embryo arrest (PREMBA), a major cause of female infertility. Loss-of-function variants reduce KPNA7 protein levels and impair nuclear transport capacity, particularly affecting transport of substrate proteins like RSL1D1 4. The E344Q mutation associated with pediatric epilepsy reduces NLS binding affinity and nuclear import of neuronal cargo proteins including hnRNP R and hnRNP U 2. Additionally, KPNA7 is overexpressed in pancreatic cancer cell lines, where it promotes malignant properties through p21-mediated cell cycle regulation 5. Identified cargo proteins MVP and ZNF414 mediate KPNA7's role in pancreatic cancer cell growth 1. KPNA7 also shows potential involvement in inflammatory bowel disease through IL27 gene-gene interactions affecting NF-κB signaling 6.
No tissue expression data available for this gene.