TAF5
TATA-box binding protein associated factor 5
Summary
Initiation of transcription by RNA polymerase II requires the activities of more than 70 polypeptides. The protein that coordinates these activities is transcription factor IID (TFIID), which binds to the core promoter to position the polymerase properly, serves as the scaffold for assembly of the remainder of the transcription complex, and acts as a channel for regulatory signals. TFIID is composed of the TATA-binding protein (TBP) and a group of evolutionarily conserved proteins known as TBP-associated factors or TAFs. TAFs may participate in basal transcription, serve as coactivators, function in promoter recognition or modify general transcription factors (GTFs) to facilitate complex assembly and transcription initiation. This gene encodes an integral subunit of TFIID associated with all transcriptionally competent forms of that complex. This subunit interacts strongly with two TFIID subunits that show similarity to histones H3 and H4, and it may participate in forming a nucleosome-like core in the TFIID complex. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]
Known Variants37 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs12776544 | 10:105,126,028 | C/T | upstream gene variant | — |
| rs1005397843 | 10:105,127,759 | G/A | — | uncertain significance |
| rs1035145538 | 10:105,127,772 | C/T | — | uncertain significance |
| rs759573716 | 10:105,127,961 | C/T | — | uncertain significance |
| rs369610870 | 10:105,128,003 | C/T | — | uncertain significance |
| rs755773467 | 10:105,128,009 | C/T | — | uncertain significance |
| rs1385582047 | 10:105,128,060 | G/A | — | uncertain significance |
| rs10883859 | 10:105,128,134 | T/G | missense variant | — |
| rs371215535 | 10:105,128,164 | G/A | — | uncertain significance |
| rs2133619410 | 10:105,128,174 | T/G | — | uncertain significance |
| rs1422208815 | 10:105,128,212 | C/T | — | uncertain significance |
| rs768662518 | 10:105,128,225 | C/T | — | uncertain significance |
| rs374495196 | 10:105,128,296 | C/T | — | uncertain significance |
| rs11191667 | 10:105,128,898 | G/A | intron variant | — |
| rs76118965 | 10:105,133,686 | A/G | intron variant | — |
| rs149227762 | 10:105,138,041 | T/A | — | uncertain significance |
| rs142451092 | 10:105,139,477 | G/A | — | not provided |
| rs781225604 | 10:105,139,659 | G/C | — | uncertain significance |
| rs143908412 | 10:105,141,492 | G/C | — | benign |
| rs2540603582 | 10:105,141,497 | T/A | — | uncertain significance |
| rs371845219 | 10:105,141,572 | A/G | — | uncertain significance |
| rs745466825 | 10:105,141,578 | G/A | — | uncertain significance |
| rs1269703205 | 10:105,141,581 | G/A | — | uncertain significance |
| rs2540604857 | 10:105,143,081 | G/C | — | uncertain significance |
| rs2540604891 | 10:105,143,096 | G/C | — | uncertain significance |
| rs373652183 | 10:105,143,097 | T/C | — | uncertain significance |
| rs758942294 | 10:105,143,118 | C/T | — | uncertain significance |
| rs757728240 | 10:105,145,087 | T/C | — | uncertain significance |
| rs2540608882 | 10:105,147,000 | C/T | — | uncertain significance |
| rs756663736 | 10:105,147,042 | C/G | — | uncertain significance |
| rs201595351 | 10:105,147,068 | G/T | — | uncertain significance |
| rs2540609006 | 10:105,147,078 | G/T | — | uncertain significance |
| rs367867892 | 10:105,147,289 | T/A | — | uncertain significance |
| rs999114321 | 10:105,147,408 | C/T | — | uncertain significance |
| rs756564047 | 10:105,147,784 | G/A | — | uncertain significance |
| rs1304521180 | 10:105,147,835 | C/A | — | uncertain significance |
| rs57707166 | 10:105,148,650 | A/C | downstream gene variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.