MED1

mediator complex subunit 1

Summary

The activation of gene transcription is a multistep process that is triggered by factors that recognize transcriptional enhancer sites in DNA. These factors work with co-activators to direct transcriptional initiation by the RNA polymerase II apparatus. The protein encoded by this gene is a subunit of the CRSP (cofactor required for SP1 activation) complex, which, along with TFIID, is required for efficient activation by SP1. This protein is also a component of other multisubunit complexes e.g. thyroid hormone receptor-(TR-) associated proteins which interact with TR and facilitate TR function on DNA templates in conjunction with initiation factors and cofactors. It also regulates p53-dependent apoptosis and it is essential for adipogenesis. This protein is known to have the ability to self-oligomerize. [provided by RefSeq, Jul 2008]

Known Variants62 total

rsidPosition (GRCh37)AllelesClassClinVar
rs98761709817:37,563,759T/C—uncertain significance
rs254426848317:37,563,766C/A—uncertain significance
rs76149507917:37,563,928G/A—uncertain significance
rs18757959317:37,563,969T/C—uncertain significance
rs76810242217:37,563,984T/A—uncertain significance
rs254427027817:37,564,344T/G—uncertain significance
rs13841707017:37,564,674G/A—uncertain significance
rs146030404517:37,564,684T/C—uncertain significance
rs36954102417:37,564,776T/C—uncertain significance
rs13859065117:37,564,785C/G—uncertain significance
rs14417889817:37,564,794G/A—likely benign
rs14675983017:37,564,849T/C—uncertain significance
rs254427201917:37,564,893G/A—uncertain significance
rs116313016517:37,564,904G/C—uncertain significance
rs136383578017:37,564,908G/T—uncertain significance
rs90792031017:37,565,028G/T—uncertain significance
rs120279419317:37,565,048C/A—uncertain significance
rs14079686417:37,565,058C/G—uncertain significance
rs74805218917:37,565,160G/A—uncertain significance
rs204832940217:37,565,163G/A—uncertain significance
rs254427325117:37,565,290T/G—uncertain significance
rs254427350017:37,565,373G/C—uncertain significance
rs14778537717:37,565,400C/T—uncertain significance
rs14692160117:37,565,523G/A—uncertain significance
rs36961208617:37,565,611C/T—likely benign
rs254427423017:37,565,622C/T—uncertain significance
rs76315127017:37,565,647G/C—uncertain significance
rs37352276517:37,565,655G/C—uncertain significance
rs104003429417:37,565,702G/T—uncertain significance
rs37292741917:37,565,746T/C—uncertain significance
rs254427484417:37,565,824C/G—uncertain significance
rs76185224917:37,565,908T/G—uncertain significance
rs254427510817:37,565,913G/A—uncertain significance
rs26760483117:37,565,929G/C—uncertain significance
rs78108033017:37,566,051C/T—uncertain significance
rs77547419717:37,566,054A/G—uncertain significance
rs20172984017:37,566,108T/G—uncertain significance
rs75878990717:37,566,270G/A—uncertain significance
rs118180163917:37,566,279G/A—likely benign
rs141963441117:37,566,369T/G—uncertain significance
rs14503266817:37,566,454C/T—uncertain significance
rs254427733617:37,566,696T/A—uncertain significance
rs76661362217:37,566,808G/T—uncertain significance
rs1294501517:37,570,879G/C——
rs13892078817:37,576,154C/A—uncertain significance
rs479536417:37,576,546G/Aintron variant—
rs7491818917:37,579,622G/A—benign
rs14283789817:37,579,956A/C—uncertain significance
rs14607356617:37,580,936C/T—likely benign
rs37614781417:37,580,952T/C—uncertain significance
rs204849829517:37,580,968C/T—likely benign
rs11701404317:37,580,974T/C—uncertain significance
rs123635292317:37,587,379G/A—likely benign
rs19392104917:37,587,385A/C—uncertain significance
rs37042666317:37,587,400C/G—uncertain significance
rs14829742317:37,587,413T/C—uncertain significance
rs36882117817:37,590,580G/A—likely benign
rs75041843717:37,596,646T/G—uncertain significance
rs136624309417:37,596,666T/G—uncertain significance
rs140872460417:37,596,919G/A—uncertain significance
rs254435900517:37,604,157T/C—uncertain significance
rs721286817:37,608,052C/T——

Gene information from NCBI Gene. Variant classifications from ClinVar.