Human Gene TAF1 (uc004dzt.4) Description and Page Index
Description: Homo sapiens TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa (TAF1), transcript variant 1, mRNA. RefSeq Summary (NM_004606): Initiation of transcription by RNA polymerase II requires the activities of more than 70 polypeptides. The protein that coordinates these activities is the basal transcription factor 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 the largest subunit of TFIID. This subunit binds to core promoter sequences encompassing the transcription start site. It also binds to activators and other transcriptional regulators, and these interactions affect the rate of transcription initiation. This subunit contains two independent protein kinase domains at the N- and C-terminals, but also possesses acetyltransferase activity and can act as a ubiquitin-activating/conjugating enzyme. Mutations in this gene result in Dystonia 3, torsion, X-linked, a dystonia-parkinsonism disorder. Alternative splicing of this gene results in multiple transcript variants. This gene is part of a complex transcription unit (TAF1/DYT3), wherein some transcript variants share exons with TAF1 as well as additional downstream DYT3 exons. [provided by RefSeq, Oct 2013]. Transcript (Including UTRs) Position: hg19 chrX:70,586,114-70,685,855 Size: 99,742 Total Exon Count: 38 Strand: + Coding Region Position: hg19 chrX:70,586,165-70,683,896 Size: 97,732 Coding Exon Count: 38
angina Brouwers, G. J. et al. 2003, Association between thrombin-activatable fibrinolysis inhibitor (TAFI) and clinical outcome in patients with unstable angina pectoris., Thrombosis and haemostasis. 2003 Jul;90(1):92-100.
In conclusion, in this study population plasma TAFI Ag levels are significantly correlated with refractiveness in patients with UAP. Furthermore, all three polymorphisms contribute independently to plasma TAFI Ag levels, but not to refractiveness.
atherosclerosis, coronary Segev, A. et al. 2004, Thr325Ile polymorphism of the TAFI gene is related to TAFI antigen plasma levels and angiographic restenosis after percutaneous coronary interventions., Thrombosis research. 2004 ;114(2):137-41.
These data suggest that plasma TAFI antigen levels are genetically controlled. The T/T Thr325Ile polymorphism of the TAFI gene is associated with lower plasma levels of TAFI antigen and lower restenosis rates after PCI.
Atherothrombosis Morange PE 2003, , Thrombosis and haemostasis. 2003 Mar;89(3):554-60.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
Protein Domain and Structure Information
Pfam Domains: PF00439 - Bromodomain PF09247 - TATA box-binding protein binding PF12157 - Protein of unknown function (DUF3591) PF15288 - Zinc knuckle
SCOP Domains: 47055 - TAF(II)230 TBP-binding fragment 47370 - Bromodomain
ModBase Predicted Comparative 3D Structure on P21675-2
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
R-HSA-109636 Recognition and Binding of Core Promoter Elements by TFIID R-HSA-73946 Abortive initiation R-HSA-75856 Abortive Initiation Before Second Transition R-HSA-75873 Addition of Nucleotides 5 through 9 on the growing Transcript R-HSA-167136 Addition of nucleotides 5 through 9 on the growing HIV-1 transcript R-HSA-167474 Abortive HIV-1 Initiation Before Second Transition R-HSA-167477 Abortive HIV-1 initiation after formation of the first phosphodiester bond R-HSA-75866 Nucleophillic Attack by 3'-hydroxyl Oxygen of nascent transcript on the Alpha Phosphate of NTP R-HSA-75861 NTP Binds Active Site of RNA Polymerase II R-HSA-75864 Newly Formed Phosphodiester Bond Stabilized and PPi Released R-HSA-109637 Binding of TFIIA and TFIIB to the pol II promoter:TFIID complex R-HSA-75862 Fall Back to Closed Pre-initiation Complex R-HSA-75949 RNA Polymerase II Promoter Opening: First Transition R-HSA-167134 Newly formed phosphodiester bond stabilized and PPi released R-HSA-167130 Nucleophillic attack by 3'-hydroxyl oxygen of nascent HIV-1 transcript on the Alpha phosphate of NTP R-HSA-167118 NTP binds active site of RNA Polymerase II in HIV-1 open pre-initiation complex R-HSA-167484 Fall Back to Closed Pre-initiation Complex R-HSA-167097 HIV Promoter Opening: First Transition R-HSA-6805399 TAF1 phosphorylates TP53 R-HSA-109638 Recruitment of RNA Polymerase II Holoenzyme by TFIIF to the pol II promoter:TFIID:TFIIA:TFIIB complex R-HSA-75095 Binding of TFIIE to the growing preinitiation complex R-HSA-109639 Formation of the closed pre-initiation complex R-HSA-73779 RNA Polymerase II Transcription Pre-Initiation And Promoter Opening R-HSA-674695 RNA Polymerase II Pre-transcription Events R-HSA-73776 RNA Polymerase II Promoter Escape R-HSA-167162 RNA Polymerase II HIV Promoter Escape R-HSA-167161 HIV Transcription Initiation R-HSA-75953 RNA Polymerase II Transcription Initiation R-HSA-76042 RNA Polymerase II Transcription Initiation And Promoter Clearance R-HSA-167172 Transcription of the HIV genome R-HSA-73857 RNA Polymerase II Transcription R-HSA-6804756 Regulation of TP53 Activity through Phosphorylation R-HSA-162599 Late Phase of HIV Life Cycle R-HSA-74160 Gene expression (Transcription) R-HSA-5633007 Regulation of TP53 Activity R-HSA-162587 HIV Life Cycle R-HSA-3700989 Transcriptional Regulation by TP53 R-HSA-162906 HIV Infection R-HSA-212436 Generic Transcription Pathway R-HSA-5663205 Infectious disease R-HSA-1643685 Disease