TUB

TUB bipartite transcription factor

Ensembl:
ENSG00000166402
UniProt:
P50607
OMIM:
601197
Synonyms:
RD5

Cilia effects upon perturbation of TUB

Ciliogenesis screen results (3 screens)

  • Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-4.20) 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:
retinitis pigmentosa

Ciliopathy associations

  • Ciliary Monogenic Obesity
  • Retinal Dystrophy/Degeneration

Subcellular localization

basal body, cytosol, nucleus

Functional category

  • Ciliary assembly/disassembly
  • Trafficking (BBSome, small GTPases, vesicular transport, ATPases)
  • Actin & cytoskeleton regulation
  • Signaling (Hedgehog, GPCRs, ion channels)
  • Ciliary membrane
  • Transcription regulation

Function

Mutations have been associated with reti l and cochlear degeneration, as well as obesity (24375934). Function in ciliary GPCR trafficking in a similar way to TULP3 (28154160).

Model organism evidence

Mus musculus (2 references)

Both cilia and neurons normally display high levels of α-tubK40Ac and despite the complete loss of this modification in αTAT1 mutants, gross cilia structure and motility were preserved, and cilia-dependent developmental processes remained intact.

TUB-like protein 2, a substrate of CCT8, is essential for the intraflagellar transport during spermiogenesis in mice†.

PMIDs: 40832302, 40613306

Danio rerio (1 reference)

Both cilia and neurons normally display high levels of α-tubK40Ac and despite the complete loss of this modification in αTAT1 mutants, gross cilia structure and motility were preserved, and cilia-dependent developmental processes remained intact.

PMIDs: 40832302