TBP Gene
protein-coding GIFtS: 69
GCID: GC06P170863
|
|
TATA box binding protein
(Previous symbols: GTF2D1, SCA17)
| |
Aliases
for TBP gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| TATA Box Binding Protein1 2 | | HDL42 5 | | GTF2D11 2 3 | | GTF2D2 | | TFIID1 2 3 | | TATA-Box Binding Protein N-Terminal Domain2 | | SCA171 2 5 | | TATA-Box-Binding Protein2 | | Transcription Initiation Factor TFIID TBP Subunit2 3 | | TF2D3 | | TATA Sequence-Binding Protein2 3 | | TATA-Binding Factor3 | | TATA-Box Factor2 3 | | |
Export aliases for TBP gene to outside databasesPrevious GC identifers: GC06P170058 GC06P170479 GC06P170719 GC06P170781 GC06P170705 GC06P168368 |
Summaries
for TBP gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
Entrez Gene summary for TBP:
Initiation of transcription by RNA polymerase II requires the activities of more than 70 polypeptides. The protein thatcoordinates these activities is transcription factor IID (TFIID), which binds to the core promoter to position thepolymerase properly, serves as the scaffold for assembly of the remainder of the transcription complex, and acts as achannel for regulatory signals. TFIID is composed of the TATA-binding protein (TBP) and a group of evolutionarilyconserved proteins known as TBP-associated factors or TAFs. TAFs may participate in basal transcription, serve ascoactivators, function in promoter recognition or modify general transcription factors (GTFs) to facilitate complexassembly and transcription initiation. This gene encodes TBP, the TATA-binding protein. A distinctive feature of TBPis a long string of glutamines in the N-terminus. This region of the protein modulates the DNA binding activity of theC terminus, and modulation of DNA binding affects the rate of transcription complex formation and initiation oftranscription. The number of CAG repeats encoding the polyglutamine tract is usually 32-39, and expansion of thenumber of repeats increases the length of the polyglutamine string and is associated with spinocerebellar ataxia 17, aneurodegenerative disorder classified as a polyglutamine disease. Two transcript variants encoding different isoformshave been found for this gene. (provided by RefSeq, Feb 2010)
UniProtKB/Swiss-Prot: TBP_HUMAN, P20226Function: General transcription factor that functions at the core of the DNA-binding multiprotein factor TFIID. Bindingof TFIID to the TATA box is the initial transcriptional step of the pre-initiation complex (PIC), playing a role inthe activation of eukaryotic genes transcribed by RNA polymerase II. Component of the transcription factor SL1/TIF-IBcomplex, which is involved in the assembly of the PIC (preinitiation complex) during RNA polymerase I-dependenttranscription. The rate of PIC formation probably is primarily dependent on the rate of association of SL1 with therDNA promoter. SL1 is involved in stabilization of nucleolar transcription factor 1/UBTF on rDNA
Gene Wiki entry for TBP (TATA-binding protein)
|
Genomic Views
for TBP gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000006.11 NC_018917.1 NT_025741.15
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the TBP gene promoter:
E2F-4 E2F-3a TBP E2F-5 E2F-2 CREB E2F E2F-1 deltaCREB
Other transcription factors
Search SABiosciences Chromatin IP Primers for TBP
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat TBP |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 6q27 Ensembl cytogenetic band: 6q27 HGNC cytogenetic band: 6q27TBP Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 6 GeneLoc Exon Structure GeneLoc location for GC06P170863: view genomic region
(about GC identifiers)
Start:
|
170,863,390 bp from pter |
End:
|
170,881,958 bp from pter |
Size:
|
18,569 bases |
Orientation:
|
plus strand |
|
Proteins
for TBP gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
UniProtKB/Swiss-Prot: TBP_HUMAN, P20226 (See
protein sequence)Recommended Name: TATA-box-binding protein Size: 339 amino acids; 37698 Da
Subunit: Binds DNA as monomer. Belongs to the TFIID complex together with the TBP-associated factors (TAFs). Componentof the transcription factor SL1/TIF-IB complex, composed of TBP and at least TAF1A, TAF1B TAF1C and TAF1D. Associationof 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 withATF7IP. Interacts with HIV-1 Tat
Subcellular location: Nucleus
5 PDB 3D structures from  and Proteopedia  for TBP:1C9B (3D)
1CDW (3D)
1JFI (3D)
1NVP (3D)
1TGH (3D)
Secondary accessions: B4E3B3 F5H869 Q16845 Q6IBM6 Q9UC02Alternative splicing: 2 isoforms: P20226-1 P20226-2 (No experimental confirmation available)Explore the universe of human proteins at neXtProt for TBP: NX_P20226
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_P20226
TBP Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins (2 alternative transcripts):
NP_001165556.1 NP_003185.1
ENSEMBL proteins: ENSP00000400008 ENSP00000230354 ENSP00000416482 ENSP00000404905 ENSP00000375942 ENSP00000442132 Reactome Protein details: P20226
Human Recombinant Protein Products:
Gene Ontology (GO): 5/9 cellular component terms (GO ID links to tree view) (see all 9): About this table
TBP for ontologies About GeneDecksing
TBP Antibody Products:
Assay Products for TBP: |
Protein
Domains /
Families
for TBP gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
TBP for domains About GeneDecksing
3 InterPro domains/families:Graphical View of Domain Structure for InterPro Entry P20226ProtoNet protein and cluster: P20226 1 Blocks protein family: IPB000814 Transcription factor TFIID
UniProtKB/Swiss-Prot: TBP_HUMAN, P20226Similarity: Belongs to the TBP family |
Function
for TBP gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Function Summary:
UniProtKB/Swiss-Prot: TBP_HUMAN, P20226Function: General transcription factor that functions at the core of the DNA-binding multiprotein factor TFIID. Bindingof TFIID to the TATA box is the initial transcriptional step of the pre-initiation complex (PIC), playing a role inthe activation of eukaryotic genes transcribed by RNA polymerase II. Component of the transcription factor SL1/TIF-IBcomplex, which is involved in the assembly of the PIC (preinitiation complex) during RNA polymerase I-dependenttranscription. The rate of PIC formation probably is primarily dependent on the rate of association of SL1 with therDNA promoter. SL1 is involved in stabilization of nucleolar transcription factor 1/UBTF on rDNA Genatlas biochemistry entry for TBP:TATA-box binding protein.component of the multisubunit complex TFIID,with a stretch of polyglutamine,ubiquitouslyexpressed. Interacting with MYC
Clone
Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for TBP (see all 4)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for TBP (see all 3)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript Custom all cDNA clones Services for TBP | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for TBP | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TBP |
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TBP |
Gene Ontology (GO): 5/7 molecular function terms (GO ID links to tree view) (see all 7): About this table
TBP for ontologies About GeneDecksing
3 GenomeRNAi human phenotypes for TBP:
Animal Models:
Mouse knock-out Tbptm1Idvd for TBP
6 MGI mutant phenotypes (inferred from 3 alleles ) (MGI details for Tbp):
TBP for phenotypes About GeneDecksing
|
Pathways & Interactions
for TBP gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
|
Unified GeneCards pathways - 5/26 super-pathways (see all 26) About this table
See pathways by source
| Super-pathway | contained gene-specific pathways |
|---|
| 1 | Formation of RNA Pol II elongation complex | | | 2 | RNA Polymerase III Transcription Initiation | | | 3 | Assembly of RNA Polymerase-II Initiation Complex | | | 4 | HIV Infection | | | 5 | Late Phase of HIV Life Cycle | |
Pathway sources
See GeneCards unified pathways
Show all pathways
1 EMD Millipore Pathway for TBP
5/17 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for TBP (see all 17)
1 
Cell Signaling Technology (CST) Pathway for TBP
1  GeneGo (Thomson Reuters) Pathway for TBP
5/7  BioSystems Pathways for TBP (see all 7)
5/26 
Reactome Pathways for TBP (see all 26)
1  PharmGKB Pathway for TBP
2 
Kegg Pathways (Kegg details for TBP):
TBP for pathways About GeneDecksing
Interactions:
SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for TBP
STRING Interaction
Network Preview (showing 5 interactants - click image to see 25)
5/316 Interacting proteins for TBP (P202261, 2, 3 ENSP000002303544) via UniProtKB, MINT, STRING, and/or I2D (see all 316)About this table
Gene Ontology (GO): 5/13 biological process terms (GO ID links to tree view) (see all 13): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0006351 | transcription, DNA-dependent |
-- | -- | | GO:0006355 | regulation of transcription, DNA-dependent |
-- | -- | | GO:0006366 | transcription from RNA polymerase II promoter |
TAS | -- | | GO:0006367 | transcription initiation from RNA polymerase II promoter |
TAS | -- | | GO:0006368 | transcription elongation from RNA polymerase II promoter |
TAS | -- |
TBP for ontologies About GeneDecksing
|
Drugs & Compounds
for TBP gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
TBP for compounds About GeneDecksing
 Browse Tocris compounds for TBP
10/51 Novoseek chemical compound relationships for TBP gene (see all 51) About this table
| Compound |
-log (P-Val) |
Hits |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| s-napc |
85.3 |
16 |
8339931 (3), 9027316 (2), 8524284 (1), 9003788 (1) (see all 9) |
| tbps |
83.7 |
16 |
8253078 (4), 10471284 (2), 8444340 (1), 8264641 (1) (see all 9) |
| actb |
79.7 |
15 |
16777070 (2), 18684503 (2), 15720708 (2), 19573231 (2) (see all 11) |
| pluramycin |
62.1 |
6 |
9383448 (3), 8877797 (2) |
| phosphocellulose |
53.6 |
9 |
7678250 (1), 1454534 (1), 1458533 (1) |
| glutamine |
45.6 |
33 |
12891385 (3), 15916858 (3), 11448935 (2), 17994014 (1) (see all 21) |
| gal 1 |
34.3 |
6 |
16977311 (2), 19407817 (1), 17620414 (1) |
| tmao |
32 |
1 |
15641800 (1) |
| glyceraldehyde 3-phosphate |
31.4 |
5 |
16777070 (1), 18976469 (1), 15720708 (1), 18460208 (1) (see all 5) |
| alpha-amanitin |
26 |
2 |
16427078 (2) |
Search CenterWatch for drugs/clinical trials and news about TBP
|
Transcripts
for TBP gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
REFSEQ mRNAs for TBP gene (2 alternative transcripts): NM_001172085.1 NM_003194.4 Unigene Cluster for TBP: TATA box binding protein Hs.590872 [show with all ESTs]Unigene Representative Sequence: NM_0031946 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000421512(uc011ehg.1) ENST00000230354 ENST00000423353 ENST00000446829
ENST00000392092(uc003qxu.3 uc003qxt.3) ENST00000540980(uc011ehf.2)
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for TBP (see all 4)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for TBP (see all 3)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript Custom all cDNA clones Services for TBP | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for TBP | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TBP |
Additional cDNA sequence: AK298272.1 AK304648.1 AK315222.1 BC109053.1 BC109054.1 BC110341.1 BT019657.1 CR456776.1 FJ770048.1 L37705.1 M34960.1 M55654.1 X54993.1 9 DOTS entries: DT.455604 DT.91985371 DT.92429891 DT.100785709 DT.102831354 DT.75176692 DT.91922046 DT.92429892 DT.95169578 24/177 AceView cDNA sequences (see all 177): AA318015 CR590323 CR618783 CD364374 CA488374 CR612496 AI718505 L37705 BM671954 M55654 BP366582 CR456776 AU128885 BX391734 AI280254 AW949722 N21431 AA121464 BU632431 M34960 BP376628 BU932925 AI475730 BG054757
GeneLoc Exon Structure
5 Alternative Splicing Database (ASD) splice patterns (SP) for TBP About this scheme
| ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5a | · | 5b | ^ | 6 | ^ | 7 | ^ | 8a | · | 8b | · | 8c | ^ | 9 | ^ | 10 |
|---|
|
| SP1: | | | | | - | | | | | | - | | | | | | | | - | | | | - | | | | | | |
| SP2: | | | | | | | | | | | | | | | | | | | - | | | | | | | | | | |
| SP3: | | | | | | | | | | | | | | | | | | | | | | | - | | | | | | |
| SP4: | | | | | - | | | | | | | | | | | | | | | | | | | | | | | | |
| SP5: | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
ECgene alternative splicing isoforms for TBP
|
Expression
for TBP gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| TBP expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: AACCACAGTT
About this image
See TBP Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for TBP
SOURCE GeneReport for Unigene cluster: Hs.590872
UniProtKB/Swiss-Prot: TBP_HUMAN, P20226Tissue specificity: Widely expressed, with levels highest in the testis and ovary
SABiosciences Expression via Pathway-Focused PCR Arrays including TBP:
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for TBP
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat TBP | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat TBP | | | Search QIAGEN QuantiFast Probe-based Assays in human, mouse, rat TBP | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TBP |
Orthologs
for TBP gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
|
This gene was present in the common ancestor of eukaryotes.
Orthologs for TBP gene from 9/41 species (see all 41) About this table
| Organism |
Taxonomic
classification |
Gene |
Description |
Human
Similarity |
Orthology
Type |
Details |
chicken
(Gallus gallus) |
Aves |
TBP1 |
TATA box binding protein |
84.11(n)
98.34(a) |
|
395995 NM_205103.1 NP_990434.1 |
lizard
(Anolis carolinensis) |
Reptilia |
TBP6 |
-- |
95(a) |
1 ↔ 1 |
1(223185493-223192488) |
African clawed frog
(Xenopus laevis) |
Amphibia |
Xl.66672 |
X.laevis mRNA for transcription factor |
78.25(n) |
|
X66033.1 |
zebrafish
(Danio rerio) |
Actinopterygii |
sizc101n13.22 |
sizc101n13.2 |
78.78(n) |
|
368882 BC055549.1 |
fruit fly
(Drosophila melanogaster) |
Insecta |
Tbp1 , 3 |
transcription initiation from Pol II
promoter more3
TATA binding protein1 |
87(a)
(best of 2)3
61.22(n)1
68.37(a)1 |
|
57F83
374761 NM_079081.31 NP_523805.11 |
worm
(Caenorhabditis elegans) |
Secernentea |
tbp-11 , 3 |
Protein TBP-11 |
80(a)3
55.56(n)1
59.52(a)1 |
|
III(7455781-7457524)3
1760541 NM_066234.41 NP_498635.11 |
baker's yeast
(Saccharomyces cerevisiae) |
Saccharomycetes |
SPT15(YER148W)4
SPT151 |
TATA-binding protein, general transcription factor more4
Spt15p1 |
67.9(n)1
79.37(a)1 |
|
5(465303-466025)4
8568911, 4 NP_011075.31 NP_011075.14 |
thale cress
(Arabidopsis thaliana) |
eudicotyledons |
TBP26TFIID-16 |
TATA-box-binding protein 1 |
61(a)60(a) |
many ↔ manymany ↔ many |
1(20725726-20728091) 3(4379793-4382224) |
rice
(Oryza sativa) |
Liliopsida |
Os.185082 |
Oryza sativa TATA-binding protein TBP2 (TBP2) mRNA, more |
74.7(n) |
|
AK061103.1 |
ENSEMBL Gene Tree for TBP (if available)
TreeFam Gene Tree for TBP (if available) |
Paralogs
for TBP gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for TBP gene
- TBPL12 TBPL22
2 SIMAP similar genes for TBP using alignment to 8 protein entries: TBP_HUMAN (see all proteins):TBPL2 TBPL1
TBP for paralogs About GeneDecksing
|
Genomic Variants
for TBP gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
UniProtKB/Swiss-Prot: TBP_HUMAN, P20226Polymorphism: The poly-Gln region of TBP is highly polymorphic (25 to 42 repeats) in normal individuals and is expandedto about 47-63 repeats in spinocerebellar ataxia 17 (SCA17) patients
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 6 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for TBP (170863390 - 170881958 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for TBP
1 CNV: 3658
Human Gene Mutation Database (HGMD): TBP
| SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing TBP |
|
Disorders
/ Diseases
for TBP gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database, Novoseek,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
TBP for disorders About GeneDecksing
OMIM gene information: 600075
OMIM disorders: 607136 168600
UniProtKB/Swiss-Prot: TBP_HUMAN, P20226
Defects in TBP are the cause of spinocerebellar ataxia type 17 (SCA17) [MIM:607136]. Spinocerebellar ataxia isa clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination ofgait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum withvariable 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 defectin SCA17 is the expansion of a CAG repeat in the coding region of TBP. Longer expansions result in earlier onset andmore severe clinical manifestations of the disease
20/60  diseases for TBP (see all 60): About MalaCardsspinocerebellar ataxia machado-joseph disease variant creutzfeldt-jakob disease spinocerebellar ataxia type 17
ataxia spinocerebellar ataxia type17 end stage renal failure xeroderma pigmentosum
huntington disease-like restless legs syndrome focal dystonia bipolar affective disorder
tuberculous peritonitis herpes simplex lupus erythematosus haemophilus influenzae
pleuropneumonia parkinson's disease multiple system atrophy huntington's disease
4 diseases from the University of Copenhagen DISEASES database for TBP:Spinocerebellar ataxia dentatorubral-pallidoluysian atrophy Tuberculosis Huntington's disease 10/33 Novoseek disease relationships for TBP gene (see all 33) About this table
| Disease |
-log (P-Val) |
Hits |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| sca17 |
93.6 |
73 |
15148151 (4), 12891385 (4), 12758065 (3), 15521976 (2) (see all 33) |
| spinocerebellar ataxias |
79.9 |
19 |
19581089 (2), 15521976 (1), 17149738 (1), 15365789 (1) (see all 15) |
| drpla |
68.2 |
14 |
15148151 (1), 11563629 (1), 19235102 (1), 17420317 (1) (see all 9) |
| sca12 |
59 |
11 |
15148151 (4), 19235102 (1), 17420317 (1) |
| huntington disease |
40.3 |
3 |
18651325 (2), 12805114 (1) |
| ataxias hereditary |
38.7 |
4 |
15148151 (1), 17420317 (1) |
| neurodegenerative diseases |
38.5 |
9 |
17994014 (1), 12891385 (1), 15989694 (1), 18418687 (1) (see all 8) |
| machado-joseph disease |
33.4 |
3 |
17420317 (1), 11211058 (1) |
| retinoblastoma |
32 |
7 |
8434021 (2), 7935440 (1), 7690963 (1), 10197586 (1) (see all 6) |
| herpes simplex |
20.9 |
3 |
8798634 (1), 7479838 (1), 15081896 (1) |
GeneTests: TBP
Spinocerebellar Ataxia Type17
Genetic Association Database (GAD): TBP
Human Genome Epidemiology (HuGE) Navigator: TBP (19 documents)
Export disorders for TBP gene to outside databases
|
Publications
for TBP gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
About This Section
|
PubMed articles for TBP gene, integrated from 9 sources (see all 796):
(articles sorted by number of sources associating them with TBP) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- SCA17, a novel autosomal dominant cerebellar ataxia caused by an expanded polyglutamine in TATA-binding protein. (PubMed id 11448935)1, 2, 3, 9 Nakamura K.... Kanazawa I. (2001)
- Cloning of a transcriptionally active human TATA binding factor. (PubMed id 2194289)1, 2, 3, 9 Kao C.C.... Berk A.J. (1990)
- Reconstitution of transcription factor SL1: exclusive binding of TBP by SL1 or TFIID subunits. (PubMed id 7801123)1, 2, 9 Comai L....Tjian R. (1994)
- The small nuclear RNA-activating protein 190 Myb DNA binding domain stimulates TATA box-binding protein-TATA box recognition. (PubMed id 12621023)1, 2, 9 Hinkley C.S.... Henry R.W. (2003)
- Evidence for functional interaction between the HIV-1 Tat transactivator and the TATA box binding protein in vivo. (PubMed id 7608968)1, 2, 9 Veschambre P.... Jalinot P. (1995)
- BRFU, a TFIIB-like factor, is directly recruited to the TATA-box of polymerase III small nuclear RNA gene promoters through its interaction with TATA-binding protein. (PubMed id 11564744)1, 2, 9 Cabart P. and Murphy S. (2001)
- Analysis of polyglutamine-coding repeats in the TATA-binding protein in different neurodegenerative diseases. (PubMed id 15365789)1, 4, 9 Wu Y.R....Chen C.M. (2005)
- Huntington's disease-like phenotype due to trinucleotide repeat expansions in the TBP and JPH3 genes. (PubMed id 12805114)1, 4, 9 Stevanin G....Durr A. (2003)
- Trinucleotide repeats in 202 families with ataxia: a small expanded (CAG)n allele at the SCA17 locus. (PubMed id 11939898)1, 2, 9 Silveira I.... Sequeiros J. (2002)
- The TFIID components human TAFII140 and Drosophila BIP2 (TAFII155) are novel metazoan homologues of yeast TAFII47 containing a histone fold and a PHD finger. (PubMed id 11438666)1, 2, 9 Gangloff Y.G.... Davidson I. (2001)
|
External Searches for TBP gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing TBP gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing TBP gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing TBP gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
|
| Name | Description |
| PharmGKB entry for TBP | Pharmacogenomics, SNPs, Pathways | | ATLAS Chromosomes in Cancer entry for TBP | Genetics and Cytogenetics in Oncology and Haematology | | GeneReviews | http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/TBP |
|
| | |
About This Section
| Patent Information for TBP gene:
Search GeneIP for patents involving TBP
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for TBP gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
About This Section
|
 | |
 | |
 |
| | |  | OriGene Antibodies for TBP | | OriGene shRNA RFP for TBP | | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for TBP | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for TBP | | | OriGene Protein Over-expression Lysate for TBP | | Browse OriGene Fluorogenic Cell Assay Kits | | | OriGene siRNA for TBP | | OriGene 3'-UTR Clone for TBP | | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for TBP | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for TBP | | | Browse OriGene GFP tagged cDNA clones in CMV expression vector | | Browse OriGene MicroRNA Expression Plasmids | | | Browse OriGene basic RS shRNAs | | Browse OriGene validated miRNA SYBR primer pairs | | | Browse OriGene full length recombinant human proteins expressed in human HEK293 cells | | OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling | | | OriGene Custom Antibody Services for TBP | | OriGene Custom Protein Services for TBP | | | OriGene Custom Immunoassay Development | | |
| |
 |
 |
| | | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat TBP | | | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing TBP | | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat TBP | | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat TBP | | | Search QIAGEN QuantiFast Probe-based Assays in human, mouse, rat TBP | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat TBP |
| |
 |  |  |  | |
| | Antibodies & Assays for TBP |
| | | | Search Tocris compounds for TBP |
| |  |  |  |  | | | | |
 |
 |
 |
 | | | TBP Proteins, Antibodies, CLIAs, and ELISAs |
| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TBP |
|  |  |  | | | | ThermoFisher Antibodies for TBP |
| | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TBP |
|
|
|
|
