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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

TBP Gene

protein-coding   GIFtS: 68
GCID: GC06P170863

TATA Box Binding Protein


(Previous symbols: GTF2D1, SCA17)
Microbiology & Infectious Diseases Congress
  See related diseases
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
TATA Box Binding Protein1 2     HDL42 5
GTF2D11 2 3     GTF2D2
SCA171 2 5     TATA-Box Binding Protein N-Terminal Domain2
Transcription Initiation Factor TFIID TBP Subunit2 3     TATA-Box-Binding Protein2
TFIID2 3     TF2D3
TATA Sequence-Binding Protein2 3     TATA-Binding Factor3
TATA-Box Factor2 3     

External Ids:    HGNC: 115881   Entrez Gene: 69082   Ensembl: ENSG000001125927   OMIM: 6000755   UniProtKB: P202263   

Export aliases for TBP gene to outside databases

Previous GC identifers: GC06P170058 GC06P170479 GC06P170719 GC06P170781 GC06P170705 GC06P168368


(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 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 type 17, and spinocerebellar ataxia type17, and among its related super-pathways are RNA Polymerase II Pre-transcription Events and Assembly of RNA Polymerase-II Initiation Complex. GO annotations related to this gene include repressing transcription factor binding and transcription factor binding. An important paralog of this gene is TBPL1.

UniProtKB/Swiss-Prot: TBP_HUMAN, P20226
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 Wiki entry for TBP (TATA-binding protein) 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000006.11  NT_025741.15  NC_018917.2  
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

SwitchGear Promoter luciferase reporter plasmidTBP promoter sequence
   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: 6q27

TBP Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TBP gene location

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

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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).
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
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 Q9UC02
Alternative splicing: 2 isoforms:  P20226-1   P20226-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for TBP: NX_P20226

Explore proteomics data for TBP at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P20226

  • TBP Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    TBP Protein Expression
    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 for TBP: 
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    Novus Biologicals TBP Lysate
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    Cloud-Clone Corp. Proteins for TBP 

    Gene Ontology (GO): 5/9 cellular component terms (GO ID links to tree view) (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001939female pronucleus IEA--
    GO:0001940male pronucleus IEA--
    GO:0005634nucleus ----
    GO:0005654nucleoplasm TAS--
    GO:0005669transcription factor TFIID complex IDA14580349

    TBP for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    GTF: General transcription factors

    3 InterPro protein domains:
     IPR000814 TBP
     IPR011989 ARM-like
     IPR012295 Beta2_adaptin/TBP_C_dom

    Graphical View of Domain Structure for InterPro Entry P20226

    ProtoNet protein and cluster: P20226

    1 Blocks protein domain: IPB000814 Transcription factor TFIID

    UniProtKB/Swiss-Prot: TBP_HUMAN, P20226
    Similarity: Belongs to the TBP family


    TBP for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: TBP_HUMAN, P20226
    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

         Genatlas biochemistry entry for TBP:
    TATA-box binding protein.component of the multisubunit complex TFIID,with a stretch of polyglutamine,ubiquitously
    expressed. Interacting with MYC

         Gene Ontology (GO): 5/6 molecular function terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001103RNA polymerase II repressing transcription factor binding IEA--
    GO:0003677DNA binding ----
    GO:0005515protein binding IPI10391676
    GO:0008134transcription factor binding IPI11005381
    GO:0044212transcription regulatory region DNA binding IDA16540471
         
    TBP for ontologies           About GeneDecksing


    Phenotypes:
         3 GenomeRNAi human phenotypes for TBP:
     Decreased G3BP1 protein expres  Decreased viability of wild-ty  Increased HPV18 LCR reporter a 

         6 MGI mutant phenotypes (inferred from 4 alleles(MGI details for Tbp):
     cardiovascular system  embryogenesis  growth/size  homeostasis/metabolism  mortality/aging 
     no phenotypic analysis 

    TBP for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Tbptm1Idvd for TBP

       inGenious Targeting Laboratory - Custom generated mouse model solutions for TBP 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for TBP

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for TBP 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for TBP 

    10/1350 SABiosciences Target genes for TBP (see all 1350):
    A1BG AADAC AADACL4 ABCB10 ABCB5 ABHD4 ABT1 ACAD8 ACHE ACOX3

    miRNA
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for TBP About   (see all 30)                                                                                              See pathways by source

    SuperPathSelected contained pathways About (see all per SuperPath)
    1Formation of RNA Pol II elongation complex
    RNA Polymerase II Pre-transcription Events0.72
    RNA Polymerase II Transcription Pre-Initiation And Promoter Opening0.67
    Transcription of the HIV genome0.70
    HIV Transcription Initiation0.67
    RNA Polymerase II Transcription Initiation And Promoter Clearance0.67
    RNA Polymerase II Transcription Initiation0.67
    RNA Polymerase II Promoter Escape0.67
    Eukaryotic Transcription Initiation0.60
    2Assembly of RNA Polymerase-II Initiation Complex
    Assembly of RNA Polymerase-II Initiation Complex0.91
    Basal transcription factors0.50
    Transcription of mRNA0.91
    Crosstalk Between CARM1 and ESRs0.39
    Protein Acetylation and Deacetylation0.51
    3RNA Polymerase III Transcription Initiation
    RNA Polymerase III Transcription Initiation0.80
    RNA Polymerase III Transcription Initiation From Type 1 Promoter0.77
    RNA Polymerase III Transcription0.80
    RNA Polymerase III Transcription Initiation From Type 2 Promoter0.74
    RNA Polymerase III Abortive And Retractive Initiation0.80
    RNA Polymerase I, RNA Polymerase III, and Mitochondrial Transcription0.59
    RNA Polymerase III Transcription Initiation From Type 3 Promoter0.80
    4HIV Life Cycle
    HIV Life Cycle0.92
    HIV Infection0.61
    Late Phase of HIV Life Cycle0.92
    5Assembly of RNA Polymerase-III Initiation Complex
    Assembly of RNA Polymerase-III Initiation Complex0.83
    Transcription of tRNA0.83

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 EMD Millipore Pathway for TBP
        Transcription Ligand-Dependent Transcription of Retinoid-Target genes

    5/17 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for TBP (see all 17)
        Nuclear Receptor Activation by Vitamin-A
    Androgen Signaling
    Assembly of RNA Polymerase-I Initiation Complex
    NF-kappaB Activation by Viruses
    Assembly of RNA Polymerase-III Initiation Complex

    1 Cell Signaling Technology (CST) Pathway for TBP
        Chromatin Regulation / Acetylation

    1 GeneGo (Thomson Reuters) Pathway for TBP
        Transcription Ligand-Dependent Transcription of Retinoid-Target genes

    5/6 BioSystems Pathways for TBP (see all 6)
        Eukaryotic Transcription Initiation
    Wnt Signaling Pathway NetPath
    Integrated Pancreatic Cancer Pathway
    Glucocorticoid receptor regulatory network
    Regulation of retinoblastoma protein

    5/22        Reactome Pathways for TBP (see all 22)
        RNA Polymerase III Transcription Initiation
    RNA Polymerase III Transcription Initiation From Type 3 Promoter
    Late Phase of HIV Life Cycle
    RNA Polymerase II Transcription
    RNA Polymerase I, RNA Polymerase III, and Mitochondrial Transcription

    1 PharmGKB Pathway for TBP
        Glucocorticoid Pathway (Peripheral Tissue), Pharmacodynamics

    5/6         Kegg Pathways  (Kegg details for TBP) (see all 6):
        Basal transcription factors
    Huntington's disease
    HTLV-I infection
    Herpes simplex infection
    Epstein-Barr virus infection


    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)

    5/329 Interacting proteins for TBP (P202261, 2, 3 ENSP000002303544) via UniProtKB, MINT, STRING, and/or I2D (see all 329)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HIST1H4AP628053I2D: score=2 
    HIST1H4BP628053I2D: score=2 
    HIST1H4CP628053I2D: score=2 
    HIST1H4DP628053I2D: score=2 
    HIST1H4EP628053I2D: score=2 
    About this table

    Gene Ontology (GO): 5/11 biological process terms (GO ID links to tree view) (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006352DNA-dependent transcription, initiation ----
    GO:0006366transcription from RNA polymerase II promoter TAS--
    GO:0006367transcription initiation from RNA polymerase II promoter TAS--
    GO:0006368transcription elongation from RNA polymerase II promoter TAS--
    GO:0006383transcription from RNA polymerase III promoter TAS--

    TBP for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, 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 Small Molecules at EMD Millipore
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    Browse Tocris compounds for TBP

    10/51 Novoseek inferred 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

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
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    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_003194
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000421512(uc011ehg.1) ENST00000230354 ENST00000423353 ENST00000446829
    ENST00000392092(uc003qxu.3 uc003qxt.3) ENST00000540980(uc011ehf.2)

    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

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    Additional mRNA 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.95169578 
    DT.92429892 

    24/177 AceView cDNA sequences (see all 177):

    AI718505 L37705 CA488374 CR590323 CD364374 CR612496 AA318015 CR618783 
    BM671954 BP366582 BV200723 BE671428 AW949722 N21431 BP375561 BX353082 
    AW300906 BU932925 AA121307 BI913776 BP376628 BG054757 BE676400 M55654 

    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

    (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 <intensity>2/3
    CGAP TAG: AACCACAGTT
    TBP Expression
    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, P20226
    Tissue specificity: Widely expressed, with levels highest in the testis and ovary

        SABiosciences Expression via Pathway-Focused PCR Arrays including TBP: 
              Housekeeping Genes PCR Array in human mouse rat
              Transcription Factors in human mouse rat
              Huntington's Disease in human mouse rat

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    (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 10/29 species (see all 29)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Tbp1 , 5 TATA box binding protein1, 5 88.92(n)1
    97.78(a)1
      17 (8.95 cM)5
    213741  NM_013684.31  NP_038712.31 
     154998885 
    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
    Uncharacterized protein
    95(a)
    1 ↔ 1
    1(223183151-223192644)
    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 
    soybean
    (Glycine max)
    eudicotyledons Gma.44122 Glycine max TATA-box binding protein (STBP1) mRNA, more 76.31(n)    L28002.1 
    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 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



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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, P20226
    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


    10/473 SNPs in TBP are shown (see all 473)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 6 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs359435571,2
    C--168370519(+) TTTTT-/TAACAGT 2 -- int11Minor allele frequency- TA:0.00NA 2
    rs748509271,2
    C--170865463(+) TTTTT-/TTAACAGT 2 -- int10--------
    rs2014305341,2
    C--170865464(+) TTTTT-/TAACAGT 2 -- int10--------
    rs765272961,2
    C--170865465(+) TTTTTA/TACAGT 2 -- int10--------
    rs770682671,2
    C--170866292(+) TTAAG-/GCCTTA 2 -- int10--------
    rs732566711,2
    C,F--170866732(+) GCAAGT/GAGAAT 2 -- int12Minor allele frequency- G:0.25NA WA 4
    rs1132876121,2
    C,F--170870018(+) AGAGGT/ATTGAC 2 -- int11Minor allele frequency- A:0.50WA 2
    rs1132024861,2
    F--170871027(+) CAGCAGCA/-GCAGC 2 -- cds12Minor allele frequency- -:0.50CSA 4
    rs718157881,2
    C--170871038(+) AGCAG-/CAACAGCA 2 -- cds10--------
    rs557367701,2
    F--170871040(+) CAGCAG/ACAGCA 4 /Q syn15Minor allele frequency- A:0.36NA CSA 14

    HapMap Linkage Disequilibrium report for TBP (170863390 - 170881958 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for TBP:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv830874CNV Loss17160897
    nsv428158CNV Gain18775914
    esv344CNV CNV17122850
    dgv2041e1CNV Complex17122850


    Human Gene Mutation Database (HGMD): TBP
    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 600075   
    OMIM disorders: 607136  168600  
    UniProtKB/Swiss-Prot: TBP_HUMAN, P20226
  • 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. Note=The disease is caused by mutations affecting the gene
    represented in this entry

  • 20/57 diseases for TBP (see all 57):    About MalaCards
    spinocerebellar ataxia type 17    spinocerebellar ataxia type17    tuberculous peritonitis    pleuropneumonia
    variant creutzfeldt-jakob disease    peritonitis    lrrk2-related parkinson disease    focal dystonia
    machado-joseph disease    hereditary ataxia    spinocerebellar ataxia    head injury
    huntington's disease    dentatorubral-pallidoluysian atrophy    end stage renal failure    ataxia
    restless legs syndrome    parkinson's disease    progeria    herpes simplex

    4 diseases from the University of Copenhagen DISEASES database for TBP:
    Spinocerebellar ataxia     dentatorubral-pallidoluysian atrophy     Tuberculosis     Huntington's disease

    TBP for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    10/33 Novoseek inferred 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
    GeneReviews: TBP
    Genetic Association Database (GAD): TBP
    Human Genome Epidemiology (HuGE) Navigator: TBP (19 documents)

    Export disorders for TBP gene to outside databases

    (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 812):
    (articles sorted by number of sources associating them with TBP)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. 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)
    2. Cloning of a transcriptionally active human TATA binding factor. (PubMed id 2194289)1, 2, 3, 9 Kao C.C.... Berk A.J. (1990)
    3. 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)
    4. 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)
    5. 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)
    6. 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)
    7. Mutation analysis of the TATA box-binding protein (TB P) gene in Chinese Han patients with spinocerebellar ataxia. (PubMed id 19581089)1, 4, 9 Xu Q....Tang B.S. (2009)
    8. Searching for mutation in the JPH3, ATN1 and TBP genes in Polish patients suspected of Huntington's disease and without mutation in the IT15 gene. (PubMed id 18651325)1, 4, 9 Sul/ek-Piatkowska A....Zaremba J. (2008)
    9. Screening for premutation in the FMR1 gene in male patients suspected of spinocerebellar ataxia. (PubMed id 19235102)1, 4, 9 Rajkiewicz M....Zaremba J. (2008)
    10. Exclusion of mutations in the PRNP, JPH3, TBP, ATN1, CREBBP, POU3F2 and FTL genes as a cause of disease in Portuguese patients with a Huntington-like phenotype. (PubMed id 16858508)1, 4, 9 Costa M.d.o. .C....Maciel P. (2006)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 6908 HGNC: 11588 AceView: TBP Ensembl:ENSG00000112592 euGenes: HUgn6908
    ECgene: TBP Kegg: 6908 H-InvDB: TBP

    (According to HUGE)
    About This Section
      --

    (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
    NameDescription
    PharmGKB entry for TBP Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for TBP Genetics and Cytogenetics in Oncology and Haematology
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/TBP

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    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



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    About This Section

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