Aliases for PES1 Gene
External Ids for PES1 Gene
Previous GeneCards Identifiers for PES1 Gene
This gene encodes a nuclear protein that contains a breast cancer associated gene 1 (BRCA1) C-terminal interaction domain. The encoded protein interacts with BOP1 and WDR12 to form the PeBoW complex, which plays a critical role in cell proliferation via pre-rRNA processing and 60S ribosomal subunit maturation. Expression of this gene may play an important role in breast cancer proliferation and tumorigenicity. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. Pseudogenes of this gene are located on the long arm of chromosome 4 and the short arm of chromosome 9. [provided by RefSeq, Aug 2011]
GeneCards Summary for PES1 Gene
PES1 (Pescadillo Ribosomal Biogenesis Factor 1) is a Protein Coding gene. Diseases associated with PES1 include Osgood-Schlatter's Disease and Motor Peripheral Neuropathy. Among its related pathways are rRNA processing in the nucleus and cytosol and Gene Expression. Gene Ontology (GO) annotations related to this gene include ribonucleoprotein complex binding.
UniProtKB/Swiss-Prot Summary for PES1 Gene
Component of the PeBoW complex, which is required for maturation of 28S and 5.8S ribosomal RNAs and formation of the 60S ribosome.