ATF6

activating transcription factor 6

Ensembl:
ENSG00000118217
UniProt:
P18850
OMIM:
605537
Synonyms:
ATF6A, ATP6ALPHA

Cilia effects upon perturbation of ATF6

Ciliogenesis screen results (4 screens)

  • Kim2016: Not Reported
  • Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-2.82) PMID:26167766
  • Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680
  • Roosing et al. 2015 (siRNA) [siRNA]: No effect PMID:26595381

Subcellular localization

cilia, nucleus

Functional category

  • Ciliary assembly/disassembly
  • Protein processing & maturation
  • Transcription regulation

Function

ATF6 has localized in cilia. In patients, ATF6 mutations cause photoreceptor dystrophy and sensorineural hearing loss. Atf6-/- mice develop progressive hearing loss with stereocilia disorganization and mild retinal dysfunction, suggesting that ATF6 loss may impair the structural integrity of sensory cells. To test this possibility, we analyzed the retinal ultrastructure of Atf6-/- mouse photoreceptors using transmission electron microscopy and identified a novel defect in which the ciliary rootlet is unbundled, disorganized, and possibly detached from the basal body

Model organism evidence

Mus musculus (1 reference)

To test this possibility, we analyzed the retinal ultrastructure of Atf6 -/- mouse photoreceptors using transmission electron microscopy and identified a novel defect in which the ciliary rootlet is unbundled, disorganized, and possibly detached from the basal body.

PMIDs: 41756951