RPA1

replication protein A1

Summary

This gene encodes the largest subunit of the heterotrimeric Replication Protein A (RPA) complex, which binds to single-stranded DNA (ssDNA), forming a nucleoprotein complex that plays an important role in DNA metabolism, being involved in DNA replication, repair, recombination, telomere maintenance, and co-ordinating the cellular response to DNA damage through activation of the ataxia telangiectasia and Rad3-related protein (ATR) kinase. The nucleoprotein complex protects the single-stranded DNA from nucleases, prevents formation of secondary structures that would interfere with repair, and co-ordinates the recruitment and departure of different genome maintenance factors. This subunit contains four oligonucleotide/oligosaccharide-binding (OB) domains, though the majority of ssDNA binding occurs in two of these domains. The heterotrimeric complex has two different modes of ssDNA binding, a low-affinity and high-affinity mode, determined by which ssDNA binding domains are utilized. The different binding modes differ in the length of DNA bound and in the proteins with which it interacts, thereby playing a role in regulating different genomic maintenance pathways. [provided by RefSeq, Sep 2017]

Known Variants50 total

rsidPosition (GRCh37)AllelesClassClinVar
rs503074917:1,733,399A/G—benign
rs1733857217:1,746,092C/A—benign
rs191210837117:1,746,113G/C—uncertain significance
rs1733858617:1,747,246G/A—benign
rs74854300517:1,747,284C/G—uncertain significance
rs191218592217:1,747,879G/A—uncertain significance
rs141145704717:1,747,976G/A—uncertain significance
rs479082717:1,748,028A/G—benign
rs228732117:1,756,351G/A—benign
rs254365152817:1,756,396A/G—uncertain significance
rs77586788117:1,756,436C/G—uncertain significance
rs75089299917:1,756,458T/G—uncertain significance
rs254367516617:1,775,804T/G—uncertain significance
rs254367893117:1,778,969A/G—uncertain significance
rs13946289617:1,778,972G/A—uncertain significance
rs14984020117:1,778,973C/T—uncertain significance
rs18937402817:1,780,108G/Aintron variant—
rs191360783417:1,780,580T/A—uncertain significance
rs57004168917:1,780,598T/C—pathogenic
rs14988952017:1,781,187C/Tintron variant—
rs91664882917:1,782,314G/A—pathogenic
rs37071291917:1,782,327A/G—uncertain significance
rs215128695617:1,782,557A/G—uncertain significance
rs254368401917:1,782,590A/G—uncertain significance
rs76880100417:1,782,591A/G—uncertain significance
rs77868578317:1,782,620G/A—uncertain significance
rs78044038817:1,782,624A/G—likely benign
rs57292244417:1,782,660G/A—uncertain significance
rs254368469717:1,782,926C/T—uncertain significance
rs223093017:1,782,957C/T—benign
rs77940950417:1,782,970A/T—uncertain significance
rs227769417:1,783,812T/C—benign
rs191375221817:1,783,876A/G—uncertain significance
rs118178806817:1,783,903G/A—uncertain significance
rs75204323317:1,783,907G/C—uncertain significance
rs126168331617:1,783,946C/T—likely benign
rs807734617:1,786,133C/Tregulatory region variant—
rs254369152717:1,787,131G/A—uncertain significance
rs254369154017:1,787,135G/A—uncertain significance
rs75812126017:1,787,140T/G—uncertain significance
rs19972260017:1,787,177G/A—uncertain significance
rs77570836817:1,787,182A/G—uncertain significance
rs254369174417:1,787,199G/T—uncertain significance
rs165300770017:1,792,054A/G—uncertain significance
rs227041217:1,792,174G/A—benign
rs20169718217:1,795,142T/A—uncertain significance
rs223093117:1,795,180C/T—benign
rs127590491217:1,798,307A/G—uncertain significance
rs116915469717:1,798,370T/C—uncertain significance
rs57512454017:1,800,375G/T—uncertain significance

Gene information from NCBI Gene. Variant classifications from ClinVar.