TUB

TUB bipartite transcription factor

Tier: Gold Standard Ciliary Genes

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

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

References: PMID:36498982, PMID:24375934

Subcellular localization

basal body, cytosol, nucleus

References: PMID:41005307, PMID:28154160

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 retinal and cochlear degeneration, as well as obesity (24375934). Function in ciliary GPCR trafficking in a similar way to TULP3 (28154160).