Aliases for POLR1A Gene
External Ids for POLR1A Gene
Previous GeneCards Identifiers for POLR1A Gene
The protein encoded by this gene is the largest subunit of the RNA polymerase I complex. The encoded protein represents the catalytic subunit of the complex, which transcribes DNA into ribosomal RNA precursors. Defects in this gene are a cause of the Cincinnati type of acrofacial dysostosis. [provided by RefSeq, May 2016]
GeneCards Summary for POLR1A Gene
POLR1A (RNA Polymerase I Subunit A) is a Protein Coding gene. Diseases associated with POLR1A include Acrofacial Dysostosis, Cincinnati Type and Acrofacial Dysostosis. Among its related pathways are Pyrimidine metabolism (KEGG) and Gene Expression. Gene Ontology (GO) annotations related to this gene include DNA-directed 5-3 RNA polymerase activity and RNA polymerase I activity. An important paralog of this gene is POLR3A.
UniProtKB/Swiss-Prot for POLR1A Gene
DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Largest and catalytic core component of RNA polymerase I which synthesizes ribosomal RNA precursors. Forms the polymerase active center together with the second largest subunit. A single stranded DNA template strand of the promoter is positioned within the central active site cleft of Pol I. A bridging helix emanates from RPA1 and crosses the cleft near the catalytic site and is thought to promote translocation of Pol I by acting as a ratchet that moves the RNA-DNA hybrid through the active site by switching from straight to bent conformations at each step of nucleotide addition (By similarity).