TUBB

tubulin beta class I; tubulin beta class I

Ensembl:
ENSG00000183311; ENSG00000224156, ENSG00000227739, ENSG00000229684, ENSG00000235067, ENSG00000196230, ENSG00000232421, ENSG00000183311, ENSG00000232575
UniProt:
P07437
OMIM:
191130
Synonyms:
M40, MGC16435, OK/SW-CL.56, TUBB5

Cilia effects upon perturbation of TUBB

Cilia number / % ciliated:
Decreased cilia number
Loss-of-function effect:
Impaired formation; Shorter cilia

Ciliogenesis screen results (4 screens)

  • Kim2016: Not Reported
  • Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-7.56) PMID:26167766
  • Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680
  • Roosing et al. 2015 (siRNA) [siRNA]: No effect PMID:26595381

Ciliopathy associations

  • Joubert Syndrome

Subcellular localization

axoneme, basal body, cilia, cytokinetic bridge, cytoskeleton, cytosol, end piece, flagella, flagellar centriole, microtubules, mitotic spindle, nucleus, principal piece

Functional category

  • Ciliary assembly/disassembly; Cilia???cytoskeleton/adhesion links; Ciliary assembly/disassembly
  • Trafficking (BBSome, small GTPases, vesicular transport, ATPases)
  • Actin & cytoskeleton regulation
  • Viral interactions
  • Protein processing & maturation

Function

Forms β-tubulin of microtubules, essential cytoskeleton component. Pathogenic variants alter microtubule dynamics, impairing early ciliogenesis and leading to ciliopathy-like phenotypes (e.g., in kidney and cerebellum)(41309602). TULP4 has localized in flagella.; TUBB has localized in basal body.

Model organism evidence

C. elegans (2 references)

One isotype, TBB-4, assembles into microtubules at the tips of the axoneme core and distal segments, where the microtubule tip tracker EB1 is found, and localizes all along the cilium, whereas the other, TBA-5, concentrates in distal singlets.

Primary cilia have essential roles in transducing signals in eukaryotes.

PMIDs: 21642982, 20421600