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Beschreibung

DNA replication complex GINS protein PSF1 (UniProt: Q14691, also known as GINS complex subunit 1) is encoded by the GINS1 (also known as KIAA0186, PSF1) gene (Gene ID: 9837) in human. GINS1 is a component of the GINS (Go-Ichi-Ni-San) complex, a heterotetramer of GINS1, 2, 3, and 4, that plays an essential role in the initiation of DNA replication and progression of DNA replication forks. GINS complex is highly conserved in mammalian species. Its each subunit is composed of two types of structural domains: an -helix rich (A) domain and a beta-strand rich (B) domain. GINS1 is highly expressed in undifferentiated cells and its deficiency in mice is shown to cause embryonic lethality by day 6.5. Its levels are significantly increased in several types of cancers, including lung, breast, and prostate cancers and several cancer cell lines. Mutations in GINS1 gene are known to cause immunodeficiency 5 (IMD55) that is characterized by chronic neutropenia, natural killer cell deficiency, and recurrent viral and bacterial infections, and most patients exhibit growth retardation. (Ref.: Hsieh, H-Y., et al. (2019). Cancer Sci. 111(7), 2400-2412, Aparicio, T., et al. (2009). Nucleic Acids Res. 37(7), 2087-2095).