TUBA1A

tubulin alpha 1a

Tier: Gold Standard Ciliary Genes

Ensembl:
ENSG00000167552
UniProt:
Q71U36
OMIM:
602529
Synonyms:
B-ALPHA-1, FLJ25113, TUBA3

Ciliogenesis screen results (2 screens)

  • Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-8.10) PMID:26167766
  • Breslow et al. 2018 (CRISPR) [CRISPR]: Increased Signaling (Negative Regulator) PMID:29459680

Phenotypes

Mouse phenotype:
hemorrhage, preweaning lethality, incomplete penetrance, edema, abnormal embryo size
Human ciliopathy phenotype:
Intellectual disability; congenital fibrosis of extraocular muscles

Subcellular localization

basal body, cilia, cytosol, microtubules, nucleus

References: PMID:41005307

Functional category

  • Ciliary assembly/disassembly
  • Trafficking (BBSome, small GTPases, vesicular transport, ATPases)
  • Actin & cytoskeleton regulation
  • Reproduction & sperm
  • Viral interactions
  • Protein processing & maturation
  • Cell migration & adhesion
  • Signaling (Hedgehog, GPCRs, ion channels)

Function

Alfa tubulin isoform. Component of the cytoskeleton, centrosomes and protofilaments, structures that associate laterally to form a microtubule.