DR1

down-regulator of transcription 1

Summary

This gene encodes a TBP- (TATA box-binding protein) associated phosphoprotein that represses both basal and activated levels of transcription. The encoded protein is phosphorylated in vivo and this phosphorylation affects its interaction with TBP. This protein contains a histone fold motif at the amino terminus, a TBP-binding domain, and a glutamine- and alanine-rich region. The binding of DR1 repressor complexes to TBP-promoter complexes may establish a mechanism in which an altered DNA conformation, together with the formation of higher order complexes, inhibits the assembly of the preinitiation complex and controls the rate of RNA polymerase II transcription. [provided by RefSeq, Jul 2008]

Known Variants12 total

rsidPosition (GRCh37)AllelesClassClinVar
rs3728705921:93,812,324A/Guncertain significance
rs37679621:93,814,411A/Gupstream gene variant
rs7714621:93,814,825T/C
rs37679641:93,815,490T/Cregulatory region variant
rs16669469861:93,819,488T/Cuncertain significance
rs66582571:93,820,684A/Gintron variant
rs7714581:93,822,349G/Cintron variant
rs15598281:93,825,638T/Aintron variant
rs12983475591:93,826,189A/Guncertain significance
rs48474121:93,829,248C/G3 prime UTR variant
rs75352141:93,832,565A/T3 prime UTR variant
rs66800221:93,833,537C/T3 prime UTR variant

Gene information from NCBI Gene. Variant classifications from ClinVar.