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TATA binding protein TBP

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.

Involvement in disease

Spinocerebellar ataxia 17

SCA17

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.

None

The disease is caused by variants affecting the gene represented in this entry.

Sequence similarities

Belongs to the TBP family.

Tissue specificity

Widely expressed, with levels highest in the testis and ovary.

Cellular localization

  • Nucleus

Alternative names

  • TATA-box-binding protein
  • TATA sequence-binding protein
  • TATA-binding factor
  • TATA-box factor
  • Transcription initiation factor TFIID TBP subunit
  • TF2D
  • TBP
  • GTF2D1
  • TFIID

Target type

Proteins

Primary research area

Epigenetics

Molecular weight

37698Da