Human Gene TBP (ENST00000392092.7_9) from GENCODE V47lift37
  Description: TATA-box binding protein, transcript variant 1 (from RefSeq NM_003194.5)
Gencode Transcript: ENST00000392092.7_9
Gencode Gene: ENSG00000112592.15_18
Transcript (Including UTRs)
   Position: hg19 chr6:170,863,457-170,881,947 Size: 18,491 Total Exon Count: 8 Strand: +
Coding Region
   Position: hg19 chr6:170,866,118-170,881,353 Size: 15,236 Coding Exon Count: 7 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesGeneReviewsModel Information
Methods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr6:170,863,457-170,881,947)mRNA (may differ from genome)Protein (339 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
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HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  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";

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: TBP
Diseases sorted by gene-association score: spinocerebellar ataxia 17* (946), parkinson disease, late-onset* (260), spinocerebellar ataxia type17* (100), dentatorubro-pallidoluysian atrophy (25), autosomal dominant cerebellar ataxia (23), gastrointestinal tuberculosis (18), tuberculous peritonitis (13), abdominal tuberculosis (13), herpes simplex (12), pericardial tuberculosis (11), huntington disease (11), granuloma inguinale (11), blount's disease (9), focal dystonia (7), ataxia (7), squamous cell papilloma (6), pleural tuberculosis (6), choreatic disease (6), spinocerebellar ataxia 12 (5), retinitis pigmentosa, y-linked (5), cerebellar ataxia (4), hereditary ataxia (4)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 26.19 RPKM in Testis
Total median expression: 379.52 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -87.00243-0.358 Picture PostScript Text
3' UTR -152.10594-0.256 Picture PostScript Text

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
  InterPro Domains: Graphical view of domain structure
IPR011989 - ARM-like
IPR012295 - Beta2_adaptin/TBP_C_dom
IPR000814 - TBP

Pfam Domains:
PF00352 - Transcription factor TFIID (or TATA-binding protein, TBP)

SCOP Domains:
52540 - P-loop containing nucleoside triphosphate hydrolases
55945 - TATA-box binding protein-like

Protein Data Bank (PDB) 3-D Structure
MuPIT help
1C9B - X-ray MuPIT 1CDW - X-ray MuPIT 1JFI - X-ray 1NVP - X-ray MuPIT 1TGH - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on P20226
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  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.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
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-  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

Cellular Component:
GO:0000790 nuclear chromatin
GO:0001939 female pronucleus
GO:0001940 male pronucleus
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005669 transcription factor TFIID complex
GO:0005672 transcription factor TFIIA complex
GO:0005719 nuclear euchromatin
GO:0005737 cytoplasm
GO:0032991 macromolecular complex
GO:0045120 pronucleus
GO:0097550 transcriptional preinitiation complex


-  Descriptions from all associated GenBank mRNAs
  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
  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

Reactome (by CSHL, EBI, and GO)

Protein P20226 (Reactome details) participates in the following event(s):

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

-  Other Names for This Gene
  Alternate Gene Symbols: B4E3B3, ENST00000392092.1, ENST00000392092.2, ENST00000392092.3, ENST00000392092.4, ENST00000392092.5, ENST00000392092.6, F5H869, GTF2D1, NM_003194, P20226, Q16845, Q6IBM6, Q9UC02, TBP_HUMAN, TF2D, TFIID , uc318uvk.1, uc318uvk.2
UCSC ID: ENST00000392092.7_9
RefSeq Accession: NM_003194.5
Protein: P20226 (aka TBP_HUMAN)

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene TBP:
ataxias (Hereditary Ataxia Overview)
sca17 (Spinocerebellar Ataxia Type 17)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.