TBP Gene (Protein Coding)

TATA-Box Binding Protein

GC06P170554
GIFtS:
49
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 sign... See more...

Aliases for TBP Gene

Aliases for TBP Gene

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

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 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]

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 Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3 and Tat-mediated elongation of the HIV-1 transcript. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and transcription factor binding. An important paralog of this gene is TBPL2.

UniProtKB/Swiss-Prot Summary for TBP Gene

  • General transcription factor that functions at the core of the DNA-binding multiprotein factor TFIID (PubMed:2374612, PubMed:2363050, PubMed:2194289, PubMed:9836642, PubMed:27193682). 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 (PubMed:2374612, PubMed:2363050, PubMed:2194289, PubMed:9836642, PubMed:27193682). Component of a BRF2-containing transcription factor complex that regulates transcription mediated by RNA polymerase III (PubMed:26638071). Component of the transcription factor SL1/TIF-IB complex, which is involved in the assembly of the PIC (pre-initiation complex) during RNA polymerase I-dependent transcription (PubMed:15970593). 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

Additional gene information for TBP Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TBP Gene

Genomics for TBP Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for TBP Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TBP on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for TBP

Top Transcription factor binding sites by QIAGEN in the TBP gene promoter:
  • CREB
  • deltaCREB
  • E2F
  • E2F-1
  • E2F-2
  • E2F-3a
  • E2F-4
  • E2F-5
  • TBP

Genomic Locations for TBP Gene

Latest Assembly
chr6:170,554,302-170,572,870
(GRCh38/hg38)
Size:
18,569 bases
Orientation:
Plus strand

Previous Assembly
chr6:170,863,457-170,881,947
(GRCh37/hg19 by Entrez Gene)
Size:
18,491 bases
Orientation:
Plus strand

chr6:170,863,390-170,881,958
(GRCh37/hg19 by Ensembl)
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 Structure • Gene Density

RefSeq DNA sequence for TBP Gene

Proteins for TBP Gene

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  • 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 (PubMed:2374612, PubMed:2194289). Belongs to the TFIID complex together with the TBP-associated factors (TAFs) (PubMed:9836642, PubMed:27007846). Part of a TFIID-containing RNA polymerase II pre-initiation complex that is composed of TBP and at least GTF2A1, GTF2A2, GTF2E1, GTF2E2, GTF2F1, GTF2H2, GTF2H3, GTF2H4, GTF2H5, GTF2B, TCEA1, ERCC2, ERCC3, TAF1, TAF2, TAF3, TAF4, TAF5, TAF6, TAF7, TAF8, TAF9, TAF10, TAF11, TAF12 and TAF13 (PubMed:27007846). Component of the transcription factor SL1/TIF-IB complex, composed of TBP and at least TAF1A, TAF1B, TAF1C and TAF1D (PubMed:7801123). Association of TBP to form either TFIID or SL1/TIF-IB appears to be mutually exclusive (PubMed:7801123). Interacts with TAF1A, TAF1B and TAF1C (PubMed:7801123). Interacts with TFIIB, NCOA6, DRAP1, DR1 and ELF3 (PubMed:10567404, PubMed:10391676, PubMed:11461703). Interacts with SPIB, SNAPC1, SNAPC2 and SNAPC4 (PubMed:10196196, PubMed:12621023). Interacts with UTF1 (PubMed:9748258). Interacts with BRF2; this interaction promotes recruitment of BRF2 to TATA box-containing promoters (PubMed:11564744, PubMed:26638071). Interacts with UBTF (PubMed:7982918). Interacts with GPBP1 (By similarity). Interacts with CITED2 (By similarity). Interacts with ATF7IP (Probable). Interacts with LLPH (By similarity). Interacts with HSF1 (via transactivation domain) (PubMed:11005381). Interacts with GTF2B (via C-terminus); this interaction with promoter-bound TBP guides RNA polymerase II into the pre-initiation complex (PIC) (PubMed:8504927). Interacts with PAX5 (PubMed:10197586).
    • (Microbial infection) Interacts with HIV-1 Tat.
    • (Microbial infection) Interacts with herpes simplex virus 1 ICP4.
    • (Microbial infection) Interacts with herpes simplex virus 2 ICP4.
    • (Microbial infection) 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

Protein Expression for TBP Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for TBP Gene

  • Ubiquitination at Lys181, Lys243, and Lys249
  • Modification sites at PhosphoSitePlus

Other Protein References for TBP Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for TBP Gene

Domains & Families for TBP Gene

Gene Families for TBP Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins
  • Transcription factors

Protein Domains for TBP Gene

InterPro:
Blocks:
  • Transcription factor TFIID

Suggested Antigen Peptide Sequences for TBP Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ51920, highly similar to TATA-box-binding protein (B4DPC1_HUMAN)
  • TBP protein (Q32MN6_HUMAN)
  • TATA box binding protein, isoform CRA_a (Q32MN7_HUMAN)
  • TATA box binding protein (Q6QR78_HUMAN)
  • TATA box binding protein (Q6UKI1_HUMAN)

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

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  6. Cell Lines for research

Molecular function for TBP Gene

UniProtKB/Swiss-Prot Function:
General transcription factor that functions at the core of the DNA-binding multiprotein factor TFIID (PubMed:2374612, PubMed:2363050, PubMed:2194289, PubMed:9836642, PubMed:27193682). 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 (PubMed:2374612, PubMed:2363050, PubMed:2194289, PubMed:9836642, PubMed:27193682). Component of a BRF2-containing transcription factor complex that regulates transcription mediated by RNA polymerase III (PubMed:26638071). Component of the transcription factor SL1/TIF-IB complex, which is involved in the assembly of the PIC (pre-initiation complex) during RNA polymerase I-dependent transcription (PubMed:15970593). 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.
GENATLAS Biochemistry:
TATA-box binding protein.component of the multisubunit complex TFIID,with a stretch of polyglutamine,ubiquitously expressed. Interacting with MYC

Phenotypes From GWAS Catalog for TBP Gene

Gene Ontology (GO) - Molecular Function for TBP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000976 transcription regulatory region sequence-specific DNA binding IDA 7933101
GO:0000978 RNA polymerase II proximal promoter sequence-specific DNA binding IEA --
GO:0000979 RNA polymerase II core promoter sequence-specific DNA binding IDA 29111974
GO:0000995 RNA polymerase III general transcription initiation factor activity IMP 26638071
GO:0001046 core promoter sequence-specific DNA binding IDA 9841876
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:
  • Tbp Tbp<tm1Xjl>
  • Tbp Tbp<tm1Idvd>

Animal Models for research

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

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TBP

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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TBP gene
Compartment Confidence
nucleus 5
cytosol 3
plasma membrane 2
extracellular 2
cytoskeleton 2
mitochondrion 2
peroxisome 2
endoplasmic reticulum 2
lysosome 2
endosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for TBP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000785 chromatin IDA 24289924
GO:0000791 euchromatin IDA 19861239
GO:0001939 female pronucleus IEA --
GO:0001940 male pronucleus IEA --
GO:0005634 nucleus IEA,IDA 9841876
genes like me logo Genes that share ontologies with TBP: view

Pathways & Interactions for TBP Gene

PathCards logo

SuperPathways for TBP Gene

SuperPathway Contained pathways
1 RNA Polymerase II Transcription Initiation And Promoter Clearance
Assembly of RNA Polymerase-II Initiation Complex
.91
Transcription of mRNA
.91
HIV Transcription Initiation
.71
RNA Polymerase II HIV Promoter Escape
.71
RNA Polymerase II Promoter Escape
.71
RNA Polymerase II Transcription Initiation
.71
RNA Polymerase II Transcription Initiation And Promoter Clearance
.71
RNA Polymerase II Transcription Pre-Initiation And Promoter Opening
.71
Basal transcription factors
.59
Eukaryotic Transcription Initiation
.53
Protein Acetylation and Deacetylation
.51
Crosstalk Between CARM1 and ESRs
.39
Transcription Ligand-Dependent Transcription of Retinoid-Target genes
.32
2 Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3
B-WICH complex positively regulates rRNA expression
.86
Positive epigenetic regulation of rRNA expression
.86
SIRT1 negatively regulates rRNA Expression
.84
NoRC negatively regulates rRNA expression
.83
RNA Polymerase I Chain Elongation
.83
RNA Polymerase I Transcription
.81
Negative epigenetic regulation of rRNA expression
.81
RNA Polymerase I Promoter Clearance
.81
RNA Polymerase I, RNA Polymerase III, and Mitochondrial Transcription
.75
Epigenetic regulation of gene expression
.73
3 RNA Polymerase III Transcription Initiation
RNA Polymerase III Abortive And Retractive Initiation
.88
RNA Polymerase III Transcription
.88
RNA Polymerase III Transcription Initiation
.88
RNA Polymerase III Transcription Initiation From Type 1 Promoter
.78
RNA Polymerase III Transcription Initiation From Type 3 Promoter
.78
RNA Polymerase III Transcription Initiation From Type 2 Promoter
.75
4 HIV Life Cycle
HIV Life Cycle
.91
Late Phase of HIV Life Cycle
.91
HIV Infection
.64
Infectious disease
.61
Disease
.45
5 Tat-mediated elongation of the HIV-1 transcript
RNA Polymerase II Pre-transcription Events
.83
Transcription of the HIV genome
.83
RNA Polymerase II Transcription
.55
RNA polymerase II transcribes snRNA genes
.30
genes like me logo Genes that share pathways with TBP: view

Pathways by source for TBP Gene

1 GeneGo (Thomson Reuters) pathway for TBP Gene
  • Transcription Ligand-Dependent Transcription of Retinoid-Target genes
17 Qiagen pathways for TBP Gene
  • AHR Pathway
  • Androgen Signaling
  • Assembly of RNA Polymerase-I Initiation Complex
  • Assembly of RNA Polymerase-II Initiation Complex
  • Assembly of RNA Polymerase-III Initiation Complex
1 Cell Signaling Technology pathway for TBP Gene

SIGNOR curated interactions for TBP Gene

Activates:
Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for TBP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006352 DNA-templated transcription, initiation IEA,IBA 21873635
GO:0006361 transcription initiation from RNA polymerase I promoter TAS --
GO:0006362 transcription elongation from RNA polymerase I promoter TAS --
GO:0006363 termination of RNA polymerase I transcription TAS --
GO:0006366 transcription by RNA polymerase II IDA,TAS --
genes like me logo Genes that share ontologies with TBP: view

Drugs & Compounds for TBP Gene

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(29) Drugs for TBP Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(22) 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

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mRNA/cDNA for TBP Gene

2 REFSEQ mRNAs :
16 NCBI additional mRNA sequence :
8 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TBP

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

Expression for TBP Gene

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mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for TBP Gene

mRNA expression in normal human tissues for TBP Gene
mRNA expression by BioGPS for TBP GenemRNA expression by GTEx for TBP Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

  • Testis (Reproductive System)

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, MaxQB, and MOPED for TBP Gene



Protein tissue co-expression partners for TBP Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for TBP

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.

Evidence on tissue expression from TISSUES for TBP Gene

  • Nervous system(3.7)
  • Skin(2.9)
  • Liver(2.8)
  • Kidney(2.6)
  • Blood(2.6)
  • Intestine(2.6)
  • Muscle(2.6)
  • Heart(2.4)
  • Lymph node(2.3)
  • Spleen(2.3)
  • Lung(2.3)
  • Bone marrow(2.2)
  • Thyroid gland(2.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for TBP Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • digestive
  • nervous
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • eye
  • head
  • mouth
  • pharynx
Thorax:
  • esophagus
Abdomen:
  • stomach
Pelvis:
  • prostate
  • urinary bladder
Limb:
  • lower limb
  • upper limb
General:
  • peripheral nerve
  • peripheral nervous system
  • spinal cord
genes like me logo Genes that share expression patterns with TBP: view

Primer products for research

No data available for 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
Oppossum
(Monodelphis domestica)
 Mammalia TBP 30
  • 96 (a)
 OneToOne
Chimpanzee
(Pan troglodytes)
 Mammalia TBP 29 30
  • 95.14 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia TBP 29 30
  • 90.6 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia TBP 29 30
  • 88.68 (n)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Tbp 29 16 30
  • 86.5 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Tbp 29
  • 86.06 (n)
Platypus
(Ornithorhynchus anatinus)
 Mammalia TBP 30
  • 86 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves TBP 29 30
  • 83 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia TBP 30
  • 95 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia tbp 29
  • 79.14 (n)
Str.6374 29
African clawed frog
(Xenopus laevis)
 Amphibia Xl.6667 29
Zebrafish
(Danio rerio)
 Actinopterygii tbp 29 30
  • 79.74 (n)
 OneToOne
sizc101n13.2 29
Fruit Fly
(Drosophila melanogaster)
 Insecta Trf 31
  • 62 (a)
Tbp 30 31
  • 54 (a)
 OneToMany
Worm
(Caenorhabditis elegans)
 Secernentea tbp-1 30 31
  • 52 (a)
 OneToMany
K. Lactis Yeast
(Kluyveromyces lactis)
 Saccharomycetes KLLA0E10099g 29
  • 68.28 (n)
Baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes SPT15 29 30 32
  • 67.9 (n)
 OneToMany
A. gosspyii yeast
(Eremothecium gossypii)
 Saccharomycetes AGOS_AGR134W 29
  • 66.11 (n)
Alicante grape
(Vitis vinifera)
 eudicotyledons Vvi.2191 29
Soybean
(Glycine max)
 eudicotyledons Gma.4412 29
Rice
(Oryza sativa)
 Liliopsida Os10g0432300 29
  • 66.84 (n)
Os.18508 29
Barley
(Hordeum vulgare)
 Liliopsida Hv.10645 29
Wheat
(Triticum aestivum)
 Liliopsida Ta.15 29
Corn
(Zea mays)
 Liliopsida Zm.93 29
Bread mold
(Neurospora crassa)
 Ascomycetes NCU04770 29
  • 64.1 (n)
Fission Yeast
(Schizosaccharomyces pombe)
 Schizosaccharomycetes tbp1 29
  • 60.45 (n)
Sea Squirt
(Ciona savignyi)
 Ascidiacea CSA.10479 30
  • 58 (a)
 OneToMany
Sea Vase
(Ciona intestinalis)
 Ascidiacea Cin.14174 29
Species where no ortholog for TBP was found in the sources mined by GeneCards:
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for TBP: view image
Alliance of Genome Resources:
Additional Orthologs for TBP

Paralogs for TBP Gene

Paralogs for TBP Gene

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

  • TBP_HUMAN
  • H0Y6D8_HUMAN
  • Q32MN6_HUMAN
  • Q32MN7_HUMAN
  • Q6QR78_HUMAN
  • Q6UKI1_HUMAN
  • Q7Z6S4_HUMAN
  • Q7Z6S5_HUMAN
genes like me logo Genes that share paralogs with TBP: view

Variants for TBP Gene

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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, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for TBP Gene

SNP ID Clinical significance and condition Chr 06 pos Variation AA Info Type
1028089 Pathogenic: Spinocerebellar ataxia type 17 170,561,966(+) AGCAGCAG/A
NM_003194.5(TBP):c.231_237del (p.Gln77fs) 		FRAMESHIFT
1028090 Pathogenic: Spinocerebellar ataxia type 17 170,561,966(+) AGCAGCAGCAGCAG/A
NM_003194.5(TBP):c.231_243del (p.Gln77fs) 		FRAMESHIFT
1028091 Pathogenic: Spinocerebellar ataxia type 17 170,562,011(+) AGC/A
NM_003194.5(TBP):c.276_277del (p.Gln93fs) 		FRAMESHIFT
1028092 Pathogenic: Spinocerebellar ataxia type 17 170,562,014(+) AG/A
NM_003194.5(TBP):c.279del (p.Gln93fs) 		FRAMESHIFT
1033982 Uncertain Significance: Spinocerebellar ataxia type 17 170,562,146(+) C/T
NM_003194.5(TBP):c.410C>T (p.Pro137Leu) 		MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for TBP Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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

Variant ID Type Subtype PubMed ID
dgv6208n100 CNV gain 25217958
dgv6209n100 CNV gain 25217958
esv2759497 CNV gain+loss 17122850
esv3571551 CNV loss 25503493
esv3611742 CNV gain 21293372
nsv1015584 CNV gain 25217958
nsv1033491 CNV loss 25217958
nsv428158 CNV gain 18775914
nsv605580 CNV gain 21841781
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)

Additional Variant Information for TBP Gene

Human Gene Mutation Database (HGMD)
TBP
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TBP
Leiden Open Variation Database (LOVD)
TBP

SNP Genotyping and Copy Number Assays for research

Disorders for TBP Gene

MalaCards: The human disease database

(36) MalaCards diseases for TBP Gene - From: OMI, CVR, GTR, ORP, COP, and GCD

Disorder Aliases PubMed IDs
spinocerebellar ataxia 17
  • sca17
parkinson disease, late-onset
  • pd
autosomal dominant cerebellar ataxia
  • spinocerebellar ataxia
hereditary ataxia
  • ataxias hereditary
gastrointestinal tuberculosis
  • tuberculosis of gastrointestinal tract
- 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 variants affecting the gene represented in this entry.

Additional Disease Information for TBP

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
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 ā€¦ Kanazawa I (Human molecular genetics 2001) 2 3 4 22 72
  2. A neurological disease caused by an expanded CAG trinucleotide repeat in the TATA-binding protein gene: a new polyglutamine disease? (PMID: 10484774) Koide R ā€¦ Tsuji S (Human molecular genetics 1999) 3 4 22 72
  3. Cloning of a transcriptionally active human TATA binding factor. (PMID: 2194289) Kao CC ā€¦ Berk AJ (Science (New York, N.Y.) 1990) 2 3 4 22
  4. Analysis of polyglutamine-coding repeats in the TATA-binding protein in different neurodegenerative diseases. (PMID: 15365789) Wu YR ā€¦ Chen CM (Journal of neural transmission (Vienna, Austria : 1996) 2005) 3 22 40
  5. The small nuclear RNA-activating protein 190 Myb DNA binding domain stimulates TATA box-binding protein-TATA box recognition. (PMID: 12621023) Hinkley CS ā€¦ Henry RW (The Journal of biological chemistry 2003) 3 4 22

ExternalLinks

View latest publications for TBP gene in Mastermind

Products for TBP Gene

  • Addgene plasmids for TBP

Sources for TBP Gene