Free for academic non-profit institutions. Other users need a Commercial license

Aliases for TBP Gene

Aliases for TBP Gene

  • TATA-Box Binding Protein 2 3 5
  • Transcription Initiation Factor TFIID TBP Subunit 3 4
  • TATA Sequence-Binding Protein 3 4
  • TATA-Box Factor 3 4
  • GTF2D1 3 4
  • TFIID 3 4
  • TATA-Box Binding Protein N-Terminal Domain 3
  • TATA Box Binding Protein 3
  • TATA-Binding Factor 4
  • GTF2D 3
  • SCA17 3
  • HDL4 3
  • TF2D 4

External Ids for TBP Gene

Previous HGNC Symbols for TBP Gene

  • GTF2D1
  • SCA17

Previous GeneCards Identifiers for TBP Gene

  • GC06P170058
  • GC06P170479
  • GC06P170719
  • GC06P170781
  • GC06P170705
  • GC06P168368
  • GC06P170863

Summaries for TBP Gene

Entrez Gene Summary for TBP Gene

  • 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 32-39, and expansion of the number of repeats 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, Feb 2010]

GeneCards Summary for TBP Gene

TBP (TATA-Box Binding Protein) is a Protein Coding gene. Diseases associated with TBP include Spinocerebellar Ataxia 17 and Parkinson Disease, Late-Onset. Among its related pathways are RNA Polymerase III Transcription Initiation and HTLV-I infection. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding and transcription factor binding. An important paralog of this gene is TBPL1.

UniProtKB/Swiss-Prot for TBP Gene

  • 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.

Gene Wiki entry for TBP Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TBP Gene

Genomics for TBP Gene

Regulatory Elements for TBP Gene

Enhancers for TBP Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around TBP on UCSC Golden Path with GeneCards custom track

Genomic Location for TBP Gene

Chromosome:
6
Start:
170,554,302 bp from pter
End:
170,572,870 bp from pter
Size:
18,569 bases
Orientation:
Plus strand

Genomic View for TBP Gene

Genes around TBP on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TBP Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TBP Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TBP Gene

Proteins for TBP Gene

  • Protein details for TBP Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P20226-TBP_HUMAN
    Recommended name:
    TATA-box-binding protein
    Protein Accession:
    P20226
    Secondary Accessions:
    • B4E3B3
    • F5H869
    • Q16845
    • Q6IBM6
    • Q9UC02

    Protein attributes for TBP Gene

    Size:
    339 amino acids
    Molecular mass:
    37698 Da
    Quaternary structure:
    • 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. Interacts with herpes simplex virus 1 ICP4. Interacts with human adenovirus E1A protein; this interaction probably disrupts the TBP-TATA complex.

    Three dimensional structures from OCA and Proteopedia for TBP Gene

    Alternative splice isoforms for TBP Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TBP Gene

Proteomics data for TBP Gene at MOPED

Post-translational modifications for TBP Gene

  • Ubiquitination at Lys 181 and Lys 243
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for TBP Gene

Domains & Families for TBP Gene

Gene Families for TBP Gene

Protein Domains for TBP Gene

Graphical View of Domain Structure for InterPro Entry

P20226

UniProtKB/Swiss-Prot:

TBP_HUMAN :
  • Belongs to the TBP family.
Family:
  • Belongs to the TBP family.
genes like me logo Genes that share domains with TBP: view

Function for TBP Gene

Molecular function for TBP Gene

GENATLAS Biochemistry:
TATA-box binding protein.component of the multisubunit complex TFIID,with a stretch of polyglutamine,ubiquitously expressed. Interacting with MYC
UniProtKB/Swiss-Prot 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.

Gene Ontology (GO) - Molecular Function for TBP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000978 RNA polymerase II core promoter proximal region sequence-specific DNA binding IEA --
GO:0000979 RNA polymerase II core promoter sequence-specific DNA binding IEA --
GO:0003677 DNA binding IEA --
GO:0005515 protein binding IPI 1465435
genes like me logo Genes that share ontologies with TBP: view
genes like me logo Genes that share phenotypes with TBP: view

Human Phenotype Ontology for TBP Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for TBP Gene

MGI Knock Outs for TBP:

Animal Model Products

miRNA for TBP Gene

miRTarBase miRNAs that target TBP

Transcription Factor Targets for TBP Gene

Selected GeneGlobe predicted Target genes for TBP
Targeted motifs for TBP Gene
HOMER Transcription Factor Regulatory Elements motif TBP
  • Consensus sequence: CCTTTTATAGCC Submotif: canonical Cell Type: NA

No data available for Enzyme Numbers (IUBMB) for TBP Gene

Localization for TBP Gene

Subcellular locations from UniProtKB/Swiss-Prot for TBP Gene

Nucleus.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for TBP Gene COMPARTMENTS Subcellular localization image for TBP gene
Compartment Confidence
nucleus 5
cytosol 3
cytoskeleton 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for TBP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005672 transcription factor TFIIA complex IDA 7724559
GO:0005737 cytoplasm IEA --
genes like me logo Genes that share ontologies with TBP: view

Pathways & Interactions for TBP Gene

SuperPathways for TBP Gene

Superpath Contained pathways
1 RNA Polymerase II Transcription Initiation And Promoter Clearance
2 Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3
3 RNA Polymerase III Transcription Initiation
4 Assembly of RNA Polymerase-II Initiation Complex
5 Infectious disease
.48
genes like me logo Genes that share pathways with TBP: view

Gene Ontology (GO) - Biological Process for TBP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006361 transcription initiation from RNA polymerase I promoter TAS --
GO:0006362 transcription elongation from RNA polymerase I promoter TAS --
GO:0006366 transcription from RNA polymerase II promoter IEA,TAS --
GO:0006383 transcription from RNA polymerase III promoter IEA,IDA 9027316
GO:0007283 spermatogenesis IEA --
genes like me logo Genes that share ontologies with TBP: view

No data available for SIGNOR curated interactions for TBP Gene

Drugs & Compounds for TBP Gene

(27) Drugs for TBP Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(24) Additional Compounds for TBP Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with TBP: view

Transcripts for TBP Gene

Unigene Clusters for TBP Gene

TATA box binding protein:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for TBP Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8a · 8b · 8c ^ 9 ^ 10
SP1: - - - -
SP2: -
SP3: -
SP4: -
SP5:

Relevant External Links for TBP Gene

GeneLoc Exon Structure for
TBP
ECgene alternative splicing isoforms for
TBP

Expression for TBP Gene

mRNA expression in normal human tissues for TBP Gene

Protein differential expression in normal tissues from HIPED for TBP Gene

This gene is overexpressed in Pancreas (20.8), Islet of Langerhans (14.8), Blymphocyte (13.4), Ovary (10.6), and Placenta (9.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for TBP Gene



SOURCE GeneReport for Unigene cluster for TBP Gene Hs.590872

mRNA Expression by UniProt/SwissProt for TBP Gene

P20226-TBP_HUMAN
Tissue specificity: Widely expressed, with levels highest in the testis and ovary.
genes like me logo Genes that share expression patterns with TBP: view

Protein tissue co-expression partners for TBP Gene

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for TBP Gene

Orthologs for TBP Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for TBP Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia TBP 35
  • 90.6 (n)
  • 95.92 (a)
TBP 36
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TBP 35
  • 88.68 (n)
  • 95.06 (a)
TBP 36
  • 97 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Tbp 35
  • 86.5 (n)
  • 94.94 (a)
Tbp 16
Tbp 36
  • 97 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia TBP 35
  • 95.14 (n)
  • 95.54 (a)
TBP 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Tbp 35
  • 86.06 (n)
  • 94.65 (a)
oppossum
(Monodelphis domestica)
Mammalia TBP 36
  • 96 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TBP 36
  • 86 (a)
OneToOne
chicken
(Gallus gallus)
Aves TBP 35
  • 83 (n)
  • 96.36 (a)
TBP 36
  • 98 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TBP 36
  • 95 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.6374 35
tbp 35
  • 79.14 (n)
  • 96.04 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.6667 35
zebrafish
(Danio rerio)
Actinopterygii sizc101n13.2 35
tbp 35
  • 79.74 (n)
  • 93.83 (a)
tbp 36
  • 89 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Tbp 37
  • 87 (a)
Trf 37
  • 62 (a)
Tbp 36
  • 54 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea tbp-1 37
  • 80 (a)
tbp-1 36
  • 52 (a)
OneToMany
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AGR134W 35
  • 66.11 (n)
  • 80.56 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0E10099g 35
  • 68.28 (n)
  • 78.49 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SPT15 35
  • 67.9 (n)
  • 79.37 (a)
SPT15 36
  • 63 (a)
OneToMany
SPT15 38
soybean
(Glycine max)
eudicotyledons Gma.4412 35
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.2191 35
barley
(Hordeum vulgare)
Liliopsida Hv.10645 35
rice
(Oryza sativa)
Liliopsida Os.18508 35
Os10g0432300 35
  • 66.84 (n)
  • 79.26 (a)
wheat
(Triticum aestivum)
Liliopsida Ta.15 35
corn
(Zea mays)
Liliopsida Zm.93 35
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.14174 35
bread mold
(Neurospora crassa)
Ascomycetes NCU04770 35
  • 64.1 (n)
  • 78.46 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes tbp1 35
  • 60.45 (n)
  • 70 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10479 36
  • 58 (a)
OneToMany
Species with no ortholog for TBP:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for TBP Gene

ENSEMBL:
Gene Tree for TBP (if available)
TreeFam:
Gene Tree for TBP (if available)

Paralogs for TBP Gene

Paralogs for TBP Gene

(2) SIMAP similar genes for TBP Gene using alignment to 8 proteins:

genes like me logo Genes that share paralogs with TBP: view

Variants for TBP Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for TBP Gene

TBP_HUMAN-P20226
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.

Sequence variations from dbSNP and Humsavar for TBP Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type
rs1042327 -- 170,569,705(+) CAGAA(C/T)ATGGT reference, synonymous-codon
rs6456230 -- 170,558,488(+) CCcac(C/T)tcact intron-variant
rs6456231 -- 170,558,775(+) tgcaa(A/C)ctcca intron-variant
rs6911104 -- 170,558,022(+) ccagt(A/G)tactg intron-variant
rs6916281 -- 170,566,564(+) AGCTA(C/T)AGTCA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for TBP Gene

Variant ID Type Subtype PubMed ID
esv344 CNV CNV 17122850
nsv428158 CNV Gain 18775914
dgv2041e1 CNV Complex 17122850
nsv830874 CNV Loss 17160897

Variation tolerance for TBP Gene

Residual Variation Intolerance Score: 33.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.24; 5.39% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TBP Gene

Human Gene Mutation Database (HGMD)
TBP

Disorders for TBP Gene

MalaCards: The human disease database

(22) MalaCards diseases for TBP Gene - From: OMIM, ClinVar, GeneTests, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
spinocerebellar ataxia 17
  • spinocerebellar ataxia type 17
parkinson disease, late-onset
  • parkinson disease
spinocerebellar ataxia type17
  • spinocerebellar ataxia 17
autosomal dominant cerebellar ataxia
  • cardiac arrest
dentatorubro-pallidoluysian atrophy
  • dentatorubral-pallidoluysian atrophy
- elite association - COSMIC cancer census association via MalaCards
Search TBP in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

TBP_HUMAN
  • Spinocerebellar ataxia 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. {ECO:0000269 PubMed:11313753, ECO:0000269 PubMed:11448935, ECO:0000269 PubMed:11939898}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for TBP

Genetic Association Database (GAD)
TBP
Human Genome Epidemiology (HuGE) Navigator
TBP
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TBP
genes like me logo Genes that share disorders with TBP: view

No data available for Genatlas for TBP Gene

Publications for TBP Gene

  1. SCA17, a novel autosomal dominant cerebellar ataxia caused by an expanded polyglutamine in TATA-binding protein. (PMID: 11448935) Nakamura K. … Kanazawa I. (Hum. Mol. Genet. 2001) 2 3 4 23 67
  2. TATA box-binding protein gene is associated with risk for schizophrenia, age at onset and prefrontal function. (PMID: 19566714) Ohi K. … Takeda M. (Genes Brain Behav. 2009) 3 23
  3. Polyglutamine expansion reduces the association of TATA-binding protein with DNA and induces DNA binding-independent neurotoxicity. (PMID: 18218637) Friedman M.J. … Li S. (J. Biol. Chem. 2008) 3 23
  4. Spinocerebellar ataxia 17 (SCA17) and Huntington's disease-like 4 (HDL4). (PMID: 18418687) Stevanin G. … Brice A. (Cerebellum 2008) 3 23
  5. TBP is differentially regulated by c-Jun N-terminal kinase 1 (JNK1) and JNK2 through Elk-1, controlling c-Jun expression and cell proliferation. (PMID: 17074809) Zhong S. … Johnson D.L. (Mol. Cell. Biol. 2007) 3 23

Products for TBP Gene

Sources for TBP Gene

Content