Aliases for PROM1 Gene
External Ids for PROM1 Gene
Previous HGNC Symbols for PROM1 Gene
Previous GeneCards Identifiers for PROM1 Gene
This gene encodes a pentaspan transmembrane glycoprotein. The protein localizes to membrane protrusions and is often expressed on adult stem cells, where it is thought to function in maintaining stem cell properties by suppressing differentiation. Mutations in this gene have been shown to result in retinitis pigmentosa and Stargardt disease. Expression of this gene is also associated with several types of cancer. This gene is expressed from at least five alternative promoters that are expressed in a tissue-dependent manner. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]
GeneCards Summary for PROM1 Gene
PROM1 (Prominin 1) is a Protein Coding gene. Diseases associated with PROM1 include Macular Dystrophy, Retinal, 2 and Stargardt Disease 4. Among its related pathways are Transcriptional misregulation in cancer and Embryonic and Induced Pluripotent Stem Cells and Lineage-specific Markers. Gene Ontology (GO) annotations related to this gene include cadherin binding and actinin binding. An important paralog of this gene is PROM2.
UniProtKB/Swiss-Prot Summary for PROM1 Gene
May play a role in cell differentiation, proliferation and apoptosis (PubMed:24556617). Binds cholesterol in cholesterol-containing plasma membrane microdomains and may play a role in the organization of the apical plasma membrane in epithelial cells. During early retinal development acts as a key regulator of disk morphogenesis. Involved in regulation of MAPK and Akt signaling pathways. In neuroblastoma cells suppresses cell differentiation such as neurite outgrowth in a RET-dependent manner (PubMed:20818439).