PROM1 gene

The PROM1 gene (PROM1 stands for: Prominin 1) is a protein-coding gene located on chromosome 4p15.32. Several transcript variants encoding different isoforms have been found for this gene. An important paralog of this gene is PROM2.

The PROM1 gene encodes a transmembrane pentaspan glycoprotein (Promin-1/CD133). The protein is localized to membrane protrusions and is frequently expressed on adult stem cells, where it is thought to maintain stem cell properties by suppressing differentiation.

Mutations in this gene have been shown to lead to retinitis pigmentosa and Stargardt's disease. The expression of this gene is also associated with various types of cancer. Associative actions associated with the encoded CD133 include cadherin binding and actinin binding.

The glycoprotein Promin-1 may play a role in cell differentiation, proliferation and apoptosis (Mak AB et al. 2014). It binds cholesterol in cholesterol-containing plasma membrane microdomains and may play a role in the organization of the apical plasma membrane in epithelial cells. Promin-1 acts as a key regulator of optic disc morphogenesis during early retinal development and is involved in the regulation of MAPK and Akt signaling pathways. Furthermore, it suppresses cell differentiation in neuroblastoma cells, such as neurite outgrowth, in a RET-dependent manner (Takenobu H et al. 2011)

Prominin-1 is expressed on some tumor cells of both solid and hematopoietic tumors. CD133-positive tumor cells have been shown to exhibit higher proliferation activity, greater chemo- and radioresistance and increased tumorigenicity compared to CD133-negative cells. For this reason, CD133 is considered a potential prognostic biomarker in oncology (Gisina A et al. 2023).

1. Gisina A et al. (2023) Can CD133 Be Regarded as a Prognostic Biomarker in Oncology: Pros and Cons. Int J Mol Sci 24:17398.
2. Mak AB et al. (2014) Post-translational regulation of CD133 by ATase1/ATase2-mediated lysine acetylation. J Mol Biol 426:2175-2182
3. Takenobu H et al. (2011) CD133 suppresses neuroblastoma cell differentiation via signal pathway modification. Oncogene 30:97-105.