TBP

TATA-box binding protein

Tier: Cilia-Associated Genes

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

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

References: PMID:39614971, PMID:10484774

Subcellular localization

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).

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