TUBB

tubulin beta class I; tubulin beta class I

Tier: Gold Standard Ciliary Genes

Ensembl:
ENSG00000183311; ENSG00000224156
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

References: PMID:41309602

Subcellular localization

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

References: PMID:41309602, PMID:41005307

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.