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FLASH GENE
Symbol TBP contributors: mct - updated : 28-01-2013
HGNC name TATA box binding protein
HGNC id 11588
Corresponding disease
SCA17 spinocerebellar ataxia 17
Location 6q27      Physical location : 170.863.420 - 170.881.957
Synonym name transcription initiation factor TFIID TBP subunit
Synonym symbol(s) GTF2D, TF2D, GTF2D1, MGC117320, MGC126054, MGC126055, TFIID, SCA17
DNA
TYPE functioning gene
STRUCTURE 18.48 kb     8 Exon(s)
10 Kb 5' upstream gene genomic sequence study
regulatory sequence Promoter
cytosine-phosphate-guanine/HTF
motif repetitive sequence   triplet
text structure triplet CAG (<42 repeats) in the third exon, a methylation free CpG island spanning their promoter region
MAPPING cloned Y linked N status confirmed
Physical map
MLLT4 6q27 myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 LOC202546 6q27 hypothetical LOC202546 C6orf54 6q27 chromosome 6 open reading frame 54 KIF25 6q27 kinesin family member 25 FRMD1 6q27 FERM domain containing 1 LOC389450 6 LOC389450 LOC154323 6q27 hypothetical LOC154323 MGC33437 6q27 meningioma expressed antigen 6 (coiled-coil proline-rich) pseudogene DACT2 6q27 dapper homolog 2, antagonist of beta-catenin (xenopus) SMOC2 6q27 SPARC related modular calcium binding 2 LOC346055 6q27 similar to Hypothetical protein CBG10550 THBS2 6q27 thrombospondin 2 LOC391988 6 similar to SPCPB16A4.07c MGC43690 6q27 hypothetical protein MGC43690 PHF10 6q27 PHD finger protein 10 TCTE3 6q27 t-complex-associated-testis-expressed 3 C6orf208 6q27 chromosome 6 open reading frame 208 LOC154449 6q27 hypothetical protein LOC154449 DLL1 6q27 delta-like 1 (Drosophila) KIAA1838 6q27 KIAA1838 PSMB1 7p12 proteasome (prosome, macropain) subunit, beta type, 1 TBP 6q27 TATA box binding protein PDCD2 6q27 programmed cell death 2 LOC391989 6 similar to Olfactory receptor 4F3
regionally located closely linked to PDCD2
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
8 - 1867 - 339 - 2009 19285969
EXPRESSION
Type ubiquitous
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Digestivestomach   highly
Endocrineneuroendocrinepituitary  highly
Respiratoryrespiratory tractlarynx  highly
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a polymorphic polyglutamine (polyQ) domain in its N terminus
  • a DNA-binding domain in its highly conserved C terminus
  • mono polymer monomer
    HOMOLOGY
    interspecies homolog to murine Tbp
    Homologene
    FAMILY
  • transcription factor (architectural) TF2D family
  • TBP family
  • CATEGORY DNA associated , transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm
    intracellular,nucleus,nucleoplasm
    intracellular,nucleus,chromatin/chromosome
    basic FUNCTION
  • large multiprotein complex, composed of the TATA box-binding protein (TBP) and 14 TBP-associated factors (TAFs), which plays a key role in the regulation of gene expression by RNA polymerase II
  • TBP, BTAF1, and DR1 establish a regulatory circuit that controls downstream core promoter element-dependent versus TATA-dependent transcription b
  • gene transcription in mammalian cells is a dynamic process involving regulated assembly of transcription complexes on chromatin in which TBP plays a central role (PMIS: 20627952)
  • CELLULAR PROCESS nucleotide, transcription, initiation
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • component of the multisubunit complex TFIID, general transcription factor IID DNA binding subunit
  • s1 also component of TFIIIB and general transcription factor SL1
  • component of the transcription factor
  • SL1/TIFIB complex, composed of TBP and at least TAF1A, TAF1B and TAF1C
  • TBP/GTF2B/Pol II complexes were linked to the production of non-polyadenylated RNA rather than polyadenylated transcripts
  • INTERACTION
    DNA
  • binds DNA as monomer
  • binds to TATA boxes in core promoters and bends the TATA DNA
  • RNA
    small molecule
    protein
  • MYC binding, RUVBL1
  • TATA-box binding
  • DNA binding by TAF4/TAF4B-TAF12 facilitates the association of TBP with the core promoter of a subset of genes
  • BTAF1 negatively regulates TBP and DR1 binding to active promoters
  • interacting with BTAF1 (BTAF1 thus acts as a TBP chaperone to control its interaction with other macromolecules)
  • TBP interacts with NFY subunit A (NFYA), which could be a target of mutant TBP in SCA17
  • H3K4me3, through interactions with TAF3, directs global TBP recruitment
  • H3K4me3 facilitates global TBP recruitment to the core promoters of active genes
  • TAF4 having coactivator function for E proteins that involves enhanced TBP binding
  • may be predominantly crosslinking to GTF2B, rather than directly to the TATA element
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) SCA17
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --over  
    of an N-terminal fragment of the TATA-box binding protein (TBP) in Alzheimer's disease brain tissue
    Susceptibility to type I diabetes( see IDDM8)
    Variant & Polymorphism other CAG/CAA polymorphism in exon 3 associated with diabetes susceptibility
    Candidate gene for mental retardation in the 6q subtelomeric deletion phenotype (DEL6QD)
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • polyQ expansion causes abnormal interaction of TBP with the general transcription factor TFIIB and induces neurodegeneration in transgenic SCA17 mice
  • chronic alcohol administration in mice leads to enhanced expression of Tbp, Brf1, tRNA, and 5S rRNA gene transcription in the liver