Aliases for POLR2A Gene
- RNA Polymerase II Subunit A 2 3 5
- RNA Polymerase II Subunit B1 2 3 4
- DNA-Directed RNA Polymerase II Largest Subunit, RNA Polymerase II 220 Kd Subunit 2 3
- Polymerase (RNA) II (DNA Directed) Polypeptide A, 220kDa 2 3
- DNA-Directed RNA Polymerase III Largest Subunit 3 4
- DNA-Directed RNA Polymerase II Subunit RPB1 3 4
- RNA-Directed RNA Polymerase II Subunit RPB1 3 4
- DNA-Directed RNA Polymerase II Subunit A 3 4
- EC 22.214.171.124 4 51
- POLR2 3 4
- POLRA 2 3
External Ids for POLR2A Gene
Previous HGNC Symbols for POLR2A Gene
Previous GeneCards Identifiers for POLR2A Gene
This gene encodes the largest subunit of RNA polymerase II, the polymerase responsible for synthesizing messenger RNA in eukaryotes. The product of this gene contains a carboxy terminal domain composed of heptapeptide repeats that are essential for polymerase activity. These repeats contain serine and threonine residues that are phosphorylated in actively transcribing RNA polymerase. In addition, this subunit, in combination with several other polymerase subunits, forms the DNA binding domain of the polymerase, a groove in which the DNA template is transcribed into RNA. [provided by RefSeq, Jul 2008]
GeneCards Summary for POLR2A Gene
POLR2A (RNA Polymerase II Subunit A) is a Protein Coding gene. Diseases associated with POLR2A include Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities and Hypotonia. Among its related pathways are RNA Polymerase II Transcription Initiation And Promoter Clearance and Transcription-Coupled Nucleotide Excision Repair (TC-NER). Gene Ontology (GO) annotations related to this gene include DNA-directed 5'-3' RNA polymerase activity. An important paralog of this gene is POLR3A.
UniProtKB/Swiss-Prot Summary for POLR2A Gene
DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Largest and catalytic component of RNA polymerase II which synthesizes mRNA precursors and many functional non-coding RNAs. Forms the polymerase active center together with the second largest subunit. Pol II is the central component of the basal RNA polymerase II transcription machinery. It is composed of mobile elements that move relative to each other. RPB1 is part of the core element with the central large cleft, the clamp element that moves to open and close the cleft and the jaws that are thought to grab the incoming DNA template. At the start of transcription, a single-stranded DNA template strand of the promoter is positioned within the central active site cleft of Pol II. A bridging helix emanates from RPB1 and crosses the cleft near the catalytic site and is thought to promote translocation of Pol II 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. During transcription elongation, Pol II moves on the template as the transcript elongates. Elongation is influenced by the phosphorylation status of the C-terminal domain (CTD) of Pol II largest subunit (RPB1), which serves as a platform for assembly of factors that regulate transcription initiation, elongation, termination and mRNA processing. Regulation of gene expression levels depends on the balance between methylation and acetylation levels of tha CTD-lysines (By similarity). Initiation or early elongation steps of transcription of growth-factors-induced immediate early genes are regulated by the acetylation status of the CTD (PubMed:24207025). Methylation and dimethylation have a repressive effect on target genes expression (By similarity).
(Microbial infection) Acts as an RNA-dependent RNA polymerase when associated with small delta antigen of Hepatitis delta virus, acting both as a replicate and transcriptase for the viral RNA circular genome.