TBP

TATA-box binding protein

Ensembl:
ENSG00000112592
UniProt:
P20226
OMIM:
600075
Synonyms:
GTF2D1, SCA17, TBP1, TFIID

Cilia effects upon perturbation of TBP

Ciliogenesis screen results (3 screens)

  • Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-3.30) PMID:26167766
  • Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680
  • Roosing et al. 2015 (siRNA) [siRNA]: No effect PMID:26595381

Phenotypes

Human ciliopathy phenotype:
spinocerebellar ataxia type 17

Ciliopathy associations

  • Spinocerebellar Ataxia

Subcellular localization

cilia associated gene, nucleus

Functional category

  • Ciliary assembly/disassembly
  • Viral interactions
  • Signaling (Hedgehog, GPCRs, ion channels)
  • Transcription regulation

Function

Mutations in the TBP gene cause Spinocerebellar Ataxia (PMID: 19917997).

Model organism evidence

Mus musculus (1 reference)

kier@med.cuny.edu Intramanchette transport (IMT) and intraflagellar transport (IFT) share similar molecular components: a raft protein complex transporting cargo proteins mobilized along microtubules by molecular motors.

PMIDs: 12211054

C. elegans (1 reference)

kier@med.cuny.edu Intramanchette transport (IMT) and intraflagellar transport (IFT) share similar molecular components: a raft protein complex transporting cargo proteins mobilized along microtubules by molecular motors.

PMIDs: 12211054