Aliases for POLA1 Gene
External Ids for POLA1 Gene
Previous HGNC Symbols for POLA1 Gene
Previous GeneCards Identifiers for POLA1 Gene
This gene encodes the catalytic subunit of DNA polymerase, which together with a regulatory and two primase subunits, forms the DNA polymerase alpha complex. The catalytic subunit plays an essential role in the initiation of DNA replication. [provided by RefSeq, Mar 2010]
GeneCards Summary for POLA1 Gene
POLA1 (DNA Polymerase Alpha 1, Catalytic Subunit) is a Protein Coding gene. Diseases associated with POLA1 include Van Esch-O'driscoll Syndrome and Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked. Among its related pathways are Nucleotide Metabolism and E2F mediated regulation of DNA replication. Gene Ontology (GO) annotations related to this gene include nucleic acid binding and nucleotide binding. An important paralog of this gene is REV3L.
UniProtKB/Swiss-Prot Summary for POLA1 Gene
Catalytic subunit of the DNA polymerase alpha complex (also known as the alpha DNA polymerase-primase complex) which plays an essential role in the initiation of DNA synthesis. During the S phase of the cell cycle, the DNA polymerase alpha complex (composed of a catalytic subunit POLA1, a regulatory subunit POLA2 and two primase subunits PRIM1 and PRIM2) is recruited to DNA at the replicative forks via direct interactions with MCM10 and WDHD1. The primase subunit of the polymerase alpha complex initiates DNA synthesis by oligomerising short RNA primers on both leading and lagging strands. These primers are initially extended by the polymerase alpha catalytic subunit and subsequently transferred to polymerase delta and polymerase epsilon for processive synthesis on the lagging and leading strand, respectively. The reason this transfer occurs is because the polymerase alpha has limited processivity and lacks intrinsic 3' exonuclease activity for proofreading error, and therefore is not well suited for replicating long complexes. In the cytosol, responsible for a substantial proportion of the physiological concentration of cytosolic RNA:DNA hybrids, which are necessary to prevent spontaneous activation of type I interferon responses (PubMed:27019227).