UBTF

upstream binding transcription factor

Summary

This gene encodes a member of the HMG-box DNA-binding protein family. The encoded protein plays a critical role in ribosomal RNA transcription as a key component of the pre-initiation complex, mediating the recruitment of RNA polymerase I to rDNA promoter regions. The encoded protein may also play important roles in chromatin remodeling and pre-rRNA processing, and its activity is regulated by both phosphorylation and acetylation. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. Pseudogenes of this gene are located on the short arm of chromosomes 3, 11 and X and the long arm of chromosome 11. [provided by RefSeq, Aug 2011]

Known Variants67 total

rsidPosition (GRCh37)AllelesClassClinVar
rs77622301017:42,284,614T/G—uncertain significance
rs205630467317:42,284,669C/T—uncertain significance
rs205630755317:42,284,692T/C—uncertain significance
rs14543619417:42,284,709G/T—likely benign
rs37402469317:42,284,742G/A—likely benign
rs48335270317:42,284,827C/A—uncertain significance
rs105467051017:42,284,848C/T—uncertain significance
rs14877009817:42,284,870G/A—likely benign
rs105102804017:42,284,892C/T—uncertain significance
rs14242619017:42,284,930G/A—likely benign
rs155557726517:42,285,078G/A—likely pathogenic
rs205635103517:42,285,103G/C—uncertain significance
rs20145946917:42,285,229C/T—likely benign
rs250992480117:42,285,237A/T—uncertain significance
rs159821437517:42,285,260C/T—uncertain significance
rs250992485117:42,285,264C/G—uncertain significance
rs139241180017:42,286,754T/C—uncertain significance
rs14044521617:42,286,789C/T—benign
rs143924624017:42,286,850G/A—uncertain significance
rs250992813017:42,287,019G/A—uncertain significance
rs250992904317:42,287,495A/G—likely benign
rs207116717:42,287,519C/T—benign
rs250992909017:42,287,531C/T—uncertain significance
rs36973089317:42,287,677C/T—likely benign
rs37325192717:42,287,695G/A—likely benign
rs3448587717:42,287,700G/A—benign
rs250992936217:42,287,707G/A—uncertain significance
rs53280576217:42,287,766C/T—uncertain significance
rs14886536917:42,287,787C/T—likely benign
rs94692965617:42,287,814G/A—uncertain significance
rs3426958117:42,287,836C/T—benign
rs252601117:42,288,128G/T—benign
rs95692689017:42,288,210G/C—uncertain significance
rs131724600817:42,288,411C/A—uncertain significance
rs37465711217:42,288,439C/T—uncertain significance
rs222819617:42,288,661G/A—benign
rs250993144717:42,288,681C/T—uncertain significance
rs14388551217:42,288,685G/A—benign
rs123640553517:42,288,973C/T—likely pathogenic
rs156779746617:42,289,097G/C—likely pathogenic
rs37127275717:42,289,118A/T—uncertain significance
rs7949701017:42,289,214G/A—benign
rs250993242517:42,289,245G/T—uncertain significance
rs250993256417:42,289,319C/A—uncertain significance
rs37090219817:42,289,826C/T—likely benign
rs285581817:42,290,015G/A—benign
rs205678303417:42,290,198C/T—uncertain significance
rs155558206517:42,290,219C/T—pathogenic
rs142663204017:42,290,628T/C—uncertain significance
rs7398395917:42,290,779C/T—benign
rs250993702017:42,293,017C/A—uncertain significance
rs250993704817:42,293,054T/C—uncertain significance
rs11518301217:42,293,245C/T—benign
rs250993733317:42,293,321C/G—uncertain significance
rs7605200817:42,293,383G/C—benign
rs135398350317:42,293,946T/C—uncertain significance
rs214455228917:42,293,965C/A—uncertain significance
rs250993848817:42,293,972C/G—uncertain significance
rs126056580517:42,293,983C/T—uncertain significance
rs250993853517:42,294,009T/C—uncertain significance
rs214455242417:42,294,050C/T—uncertain significance
rs226990817:42,294,198G/C—benign
rs226990717:42,294,215G/A—benign
rs250994008717:42,295,584G/C—uncertain significance
rs57183361017:42,295,665C/G—uncertain significance
rs7821687617:42,295,825C/G—benign
rs18265724817:42,296,626C/Aregulatory region variant—

Gene information from NCBI Gene. Variant classifications from ClinVar.