Human Gene TBP (uc003qxu.3) Description and Page Index
Description: Homo sapiens TATA box binding protein (TBP), transcript variant 1, mRNA. RefSeq Summary (NM_003194): 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 TBP, the TATA-binding protein. A distinctive feature of TBP is a long string of glutamines in the N-terminus. This region of the protein modulates the DNA binding activity of the C terminus, and modulation of DNA binding affects the rate of transcription complex formation and initiation of transcription. The number of CAG repeats encoding the polyglutamine tract is usually 25-42, and expansion of the number of repeats to 45-66 increases the length of the polyglutamine string and is associated with spinocerebellar ataxia 17, a neurodegenerative disorder classified as a polyglutamine disease. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2016]. Transcript (Including UTRs) Position: hg19 chr6:170,863,421-170,881,958 Size: 18,538 Total Exon Count: 8 Strand: + Coding Region Position: hg19 chr6:170,866,118-170,881,353 Size: 15,236 Coding Exon Count: 7
ID:TBP_HUMAN DESCRIPTION: RecName: Full=TATA-box-binding protein; AltName: Full=TATA sequence-binding protein; AltName: Full=TATA-binding factor; AltName: Full=TATA-box factor; AltName: Full=Transcription initiation factor TFIID TBP subunit; FUNCTION: General transcription factor that functions at the core of the DNA-binding multiprotein factor TFIID. Binding of TFIID to the TATA box is the initial transcriptional step of the pre- initiation complex (PIC), playing a role in the activation of eukaryotic genes transcribed by RNA polymerase II. Component of the transcription factor SL1/TIF-IB complex, which is involved in the assembly of the PIC (preinitiation complex) during RNA polymerase I-dependent transcription. The rate of PIC formation probably is primarily dependent on the rate of association of SL1 with the rDNA promoter. SL1 is involved in stabilization of nucleolar transcription factor 1/UBTF on rDNA. SUBUNIT: Binds DNA as monomer. Belongs to the TFIID complex together with the TBP-associated factors (TAFs). Component of the transcription factor SL1/TIF-IB complex, composed of TBP and at least TAF1A, TAF1B TAF1C and TAF1D. Association of TBP to form either TFIID or SL1/TIF-IB appears to be mutually exclusive. Interacts with TAF1A, TAF1B and TAF1C. Interacts with TFIIB, NCOA6, DRAP1, DR1 and ELF3. Interacts with SPIB, SNAPC1, SNAPC2 and SNAPC4. Interacts with UTF1. Interacts with BRF2. Interacts with UBTF. Interacts with GPBP1. Interacts with CITED2 (By similarity). Interacts with ATF7IP. Interacts with HIV-1 Tat. INTERACTION: O60869-1:EDF1; NbExp=2; IntAct=EBI-355371, EBI-781310; P52657:GTF2A2; NbExp=2; IntAct=EBI-355371, EBI-1045262; P20265:POU3F2; NbExp=2; IntAct=EBI-355371, EBI-1167176; P21675:TAF1; NbExp=5; IntAct=EBI-355371, EBI-491289; P04637:TP53; NbExp=2; IntAct=EBI-355371, EBI-366083; SUBCELLULAR LOCATION: Nucleus. TISSUE SPECIFICITY: Widely expressed, with levels highest in the testis and ovary. POLYMORPHISM: The poly-Gln region of TBP is highly polymorphic (25 to 42 repeats) in normal individuals and is expanded to about 47- 63 repeats in spinocerebellar ataxia 17 (SCA17) patients. DISEASE: Defects in TBP are the cause of spinocerebellar ataxia type 17 (SCA17) [MIM:607136]. Spinocerebellar ataxia is a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA17 is an autosomal dominant cerebellar ataxia (ADCA) characterized by widespread cerebral and cerebellar atrophy, dementia and extrapyramidal signs. The molecular defect in SCA17 is the expansion of a CAG repeat in the coding region of TBP. Longer expansions result in earlier onset and more severe clinical manifestations of the disease. SIMILARITY: Belongs to the TBP family. WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/TBP";
Genetic Association Studies of Complex Diseases and Disorders
Genetic Association Database (archive): TBP CDC HuGE Published Literature: TBP
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.
ModBase Predicted Comparative 3D Structure on P20226
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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.
Gene Ontology (GO) Annotations with Structured Vocabulary
Molecular Function: GO:0000978 RNA polymerase II core promoter proximal region sequence-specific DNA binding GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding GO:0000987 core promoter proximal region sequence-specific DNA binding GO:0001034 RNA polymerase III transcription factor activity, sequence-specific DNA binding GO:0001047 core promoter binding GO:0001093 TFIIB-class transcription factor binding GO:0001103 RNA polymerase II repressing transcription factor binding GO:0001129 RNA polymerase II transcription factor activity, TBP-class protein binding, involved in preinitiation complex assembly GO:0003677 DNA binding GO:0003700 transcription factor activity, sequence-specific DNA binding GO:0005515 protein binding GO:0008134 transcription factor binding GO:0017162 aryl hydrocarbon receptor binding GO:0019899 enzyme binding GO:0044212 transcription regulatory region DNA binding GO:0070491 repressing transcription factor binding
Biological Process: GO:0006351 transcription, DNA-templated GO:0006352 DNA-templated transcription, initiation GO:0006355 regulation of transcription, DNA-templated GO:0006357 regulation of transcription from RNA polymerase II promoter GO:0006359 regulation of transcription from RNA polymerase III promoter GO:0006361 transcription initiation from RNA polymerase I promoter GO:0006363 termination of RNA polymerase I transcription GO:0006366 transcription from RNA polymerase II promoter GO:0006367 transcription initiation from RNA polymerase II promoter GO:0006383 transcription from RNA polymerase III promoter GO:0007283 spermatogenesis GO:0016032 viral process GO:0042795 snRNA transcription from RNA polymerase II promoter GO:0045815 positive regulation of gene expression, epigenetic GO:0045893 positive regulation of transcription, DNA-templated GO:0051123 RNA polymerase II transcriptional preinitiation complex assembly GO:1901796 regulation of signal transduction by p53 class mediator
AK304648 - Homo sapiens cDNA FLJ51756 complete cds, highly similar to TATA-box-binding protein. AK315222 - Homo sapiens cDNA, FLJ96219. BC110341 - Homo sapiens TATA box binding protein, mRNA (cDNA clone MGC:117320 IMAGE:5761426), complete cds. Z22828 - H.sapiens transcription factor TFIID mRNA. AK298272 - Homo sapiens cDNA FLJ51920 complete cds, highly similar to TATA-box-binding protein. M55654 - Human TATA-binding protein mRNA, complete cds. BC109054 - Homo sapiens TATA box binding protein, mRNA (cDNA clone MGC:126055 IMAGE:40032493), complete cds. BC109053 - Homo sapiens TATA box binding protein, mRNA (cDNA clone MGC:126054 IMAGE:40032492), complete cds. JD503602 - Sequence 484626 from Patent EP1572962. JD348562 - Sequence 329586 from Patent EP1572962. JD199214 - Sequence 180238 from Patent EP1572962. X54993 - H.sapiens TFIID mRNA. FJ770048 - Homo sapiens TATA-box binding protein N-terminal domain splice variant mRNA, complete cds, alternatively spliced. JD106328 - Sequence 87352 from Patent EP1572962. EU831783 - Synthetic construct Homo sapiens clone HAIB:100066812; DKFZo008D0321 TATA box binding protein protein (TBP) gene, encodes complete protein. EU831861 - Synthetic construct Homo sapiens clone HAIB:100066890; DKFZo004D0322 TATA box binding protein protein (TBP) gene, encodes complete protein. EU832760 - Synthetic construct Homo sapiens clone HAIB:100067789; DKFZo008A0333 TATA box binding protein protein (TBP) gene, encodes complete protein. GQ129302 - Synthetic construct Homo sapiens clone HAIB:100068450; DKFZo004A0334 TATA box binding protein protein (TBP) gene, partial cds. KJ901779 - Synthetic construct Homo sapiens clone ccsbBroadEn_11173 TBP gene, encodes complete protein. BT019657 - Homo sapiens TATA box binding protein mRNA, complete cds. CR456776 - Homo sapiens full open reading frame cDNA clone RZPDo834F024D for gene TBP, TATA box binding protein; complete cds, incl. stopcodon. M34960 - Homo sapiens transcription factor IID mRNA, complete cds. LF340471 - JP 2014500723-A/147974: Polycomb-Associated Non-Coding RNAs. L37722 - Homo sapiens (clone 10) macronuclear mRNA. L37705 - Homo sapiens (clone 47) macronuclear mRNA. JD502823 - Sequence 483847 from Patent EP1572962. JD299066 - Sequence 280090 from Patent EP1572962. JD061656 - Sequence 42680 from Patent EP1572962. JD428186 - Sequence 409210 from Patent EP1572962. JD285068 - Sequence 266092 from Patent EP1572962. LF340472 - JP 2014500723-A/147975: Polycomb-Associated Non-Coding RNAs. JD521106 - Sequence 502130 from Patent EP1572962. JD219035 - Sequence 200059 from Patent EP1572962. JD245248 - Sequence 226272 from Patent EP1572962. JD189994 - Sequence 171018 from Patent EP1572962. MA576048 - JP 2018138019-A/147974: Polycomb-Associated Non-Coding RNAs. MA576049 - JP 2018138019-A/147975: Polycomb-Associated Non-Coding RNAs.
Biochemical and Signaling Pathways
KEGG - Kyoto Encyclopedia of Genes and Genomes hsa03022 - Basal transcription factors hsa05016 - Huntington's disease
BioCarta from NCI Cancer Genome Anatomy Project h_RNApol3Pathway - RNA polymerase III transcription h_rarrxrPathway - Nuclear receptors coordinate the activities of chromatin remodeling complexes and coactivators to facilitate initiation of transcription in carcinoma cells h_carm-erPathway - CARM1 and Regulation of the Estrogen Receptor h_hSWI-SNFpathway - Chromatin Remodeling by hSWI/SNF ATP-dependent Complexes
R-HSA-73729 Formation of SL1 R-HSA-6810234 General transcription factors bind SNAPc:POU2F1:ZNF143:snRNA gene R-HSA-9009533 TBP and TFIIA bind TATA box on ESR1:estrogen bound TFF1 gene promoter R-HSA-73736 Acetylation of SL1 R-HSA-5250947 B-WICH complex binds rDNA promoter R-HSA-5211239 SIRT1 deacetylates TAF1B in SL1 complex R-HSA-73739 Recruitment of Acetylated SL1 to phosUBF-1:rDNA Promoter R-HSA-83723 Binding of TFIIIB to TFIIIC:TFIIIA:Type I Promoter complex R-HSA-83790 Binding of TFIIIB to TFIIC: Type 2 Promoter Complex R-HSA-83793 Binding of TFIIIB to SNAPc:Oct-1:Staf:Type 3 Promoter Complex 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-6810238 RNA polymerase II binds initiation factors at promoter of snRNA gene (U1, U2, U4, U4atac, U5, U11, U12) R-HSA-9009526 CARM1 binds TBP:TFIIA:DDX5:ESR1:estrogen:TFF1 gene R-HSA-9023861 PRMT1 binds TBP:TFIIA:DDX5:ESR1:estrogen:TFF1 gene R-HSA-5250930 B-WICH recruits histone acetyltransferases R-HSA-73758 Recruitment of Active RNA Polymerase I to SL1:phos.UBF-1:rDNA Promoter R-HSA-74994 Polymerase I Transcription Complex/Nascent Pre rRNA Complex pauses at the TTF-I:Sal Box R-HSA-73769 Loss of Rrn3 from RNA Polymerase I promoter escape complex R-HSA-74992 Dissociation of PTRF:Polymerase I/Nascent Pre rRNA Complex:TTF-I:Sal Box R-HSA-76056 Recruitment of RNA polymerase III to TFIIIB:TFIIIC:TFIIIA:Type 1 Promoter Complex R-HSA-83805 Recruitment of RNA Polymerase III to the TFIIIB:TFIIIC: Type 2 Promoter Complex R-HSA-112055 RNA Polymerase III Abortive Initiation At Type 1 Open Promoters R-HSA-112153 RNA Polymerase III Simple Start Sequence Initiation At Type 1 Promoters R-HSA-76060 RNA Polymerase III Promoter Opening at Type 1 Promoters R-HSA-112149 RNA Polymerase III Abortive Initiation At Type 2 Open Promoters R-HSA-112155 RNA Polymerase III Simple Start Sequence Initiation At Type 2 Promoters R-HSA-112150 RNA Polymerase III Promoter Opening at Type 2 Promoters R-HSA-83803 Recruitment of RNA Polymerase III to TFIIIB:SNAPc:Type 3 Promoter Complex R-HSA-112054 RNA Polymerase III Abortive Initiation At Type 3 Open Promoters R-HSA-112156 RNA Polymerase III Simple Start Sequence Initiation At Type 3 Promoters R-HSA-112152 RNA Polymerase III Promoter Opening at Type 3 Promoters 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-6810235 RPAP2 binds RNA polymerase II phosphorylated at serine-7 residues of heptad repeats in the C-terminal domain R-HSA-6810233 CDK7 phosphorylates serine-5 and serine-7 of heptad repeats in C-terminal domain of RNA polymerase II at snRNA promoter R-HSA-6814885 CBCAP complex binds 7-methylguanosine cap of snRNA R-HSA-74993 PTRF Binds the Polymerase I Transcription Complex/Nascent Pre rRNA Complex paused at the TTF-I:Sal Box R-HSA-74986 Elongation of pre-rRNA transcript R-HSA-427366 Transcription of intergenic spacer of the rRNA gene R-HSA-109638 Recruitment of RNA Polymerase II Holoenzyme by TFIIF to the pol II promoter:TFIID:TFIIA:TFIIB complex R-HSA-9023860 Histone acetyltransferases are recruited to the TFF1 gene R-HSA-5250938 B-WICH:histone acetyltransferase acetylates histone H3 at lysine-9 R-HSA-75095 Binding of TFIIE to the growing preinitiation complex R-HSA-109639 Formation of the closed pre-initiation complex R-HSA-73762 RNA Polymerase I Transcription Initiation R-HSA-6807505 RNA polymerase II transcribes snRNA genes R-HSA-9018519 Estrogen-dependent gene expression R-HSA-5250924 B-WICH complex positively regulates rRNA expression R-HSA-427359 SIRT1 negatively regulates rRNA expression R-HSA-76061 RNA Polymerase III Transcription Initiation From Type 1 Promoter R-HSA-76066 RNA Polymerase III Transcription Initiation From Type 2 Promoter R-HSA-76071 RNA Polymerase III Transcription Initiation From Type 3 Promoter 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-73854 RNA Polymerase I Promoter Clearance R-HSA-73857 RNA Polymerase II Transcription R-HSA-8939211 ESR-mediated signaling R-HSA-5250913 Positive epigenetic regulation of rRNA expression R-HSA-5250941 Negative epigenetic regulation of rRNA expression R-HSA-73863 RNA Polymerase I Transcription Termination R-HSA-73772 RNA Polymerase I Promoter Escape R-HSA-749476 RNA Polymerase III Abortive And Retractive Initiation R-HSA-76046 RNA Polymerase III 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-6804756 Regulation of TP53 Activity through Phosphorylation R-HSA-73864 RNA Polymerase I Transcription R-HSA-74160 Gene expression (Transcription) R-HSA-9006931 Signaling by Nuclear Receptors R-HSA-212165 Epigenetic regulation of gene expression R-HSA-73777 RNA Polymerase I Chain Elongation R-HSA-427413 NoRC negatively regulates rRNA expression R-HSA-74158 RNA Polymerase III Transcription R-HSA-162599 Late Phase of HIV Life Cycle R-HSA-5633007 Regulation of TP53 Activity R-HSA-162582 Signal Transduction 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