Aliases for POP1 Gene
External Ids for POP1 Gene
Previous GeneCards Identifiers for POP1 Gene
This gene encodes the protein subunit of two different small nucleolar ribonucleoprotein complexes: the endoribonuclease for mitochondrial RNA processing complex and the ribonuclease P complex. The encoded protein is a ribonuclease that localizes to the nucleus and functions in pre-RNA processing. This protein is also an autoantigen in patients suffering from connective tissue diseases. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2009]
GeneCards Summary for POP1 Gene
POP1 (POP1 Homolog, Ribonuclease P/MRP Subunit) is a Protein Coding gene. Diseases associated with POP1 include Anauxetic Dysplasia 2 and Anauxetic Dysplasia 1. Among its related pathways are tRNA processing and Gene Expression. Gene Ontology (GO) annotations related to this gene include ribonuclease MRP activity. An important paralog of this gene is SERAC1.
UniProtKB/Swiss-Prot Summary for POP1 Gene
Component of ribonuclease P, a ribonucleoprotein complex that generates mature tRNA molecules by cleaving their 5'-ends (PubMed:8918471, PubMed:30454648). Also a component of the MRP ribonuclease complex, which cleaves pre-rRNA sequences (PubMed:28115465).