COBL

cordon-bleu WH2 repeat protein

Ensembl:
ENSG00000106078
UniProt:
O75128
OMIM:
610317
Synonyms:
KIAA0633

Cilia effects upon perturbation of COBL

Cilia number / % ciliated:
No effect
Loss-of-function effect:
Shorter cilia

Ciliogenesis screen results (3 screens)

  • Wheway et al. 2015 (siRNA) [siRNA]: No effect PMID:26167766
  • Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680
  • Roosing et al. 2015 (siRNA) [siRNA]: No effect PMID:26595381

Phenotypes

Mouse phenotype:
abnormal thymus morphology, increased effector memory t-helper cell number, enlarged thymus
Mouse ciliopathy phenotype:
abnormal heart morphology, enlarged heart

Subcellular localization

cilia

Functional category

  • Ciliary assembly/disassembly
  • Actin & cytoskeleton regulation

Function

Cobl protein localized apically in ciliated epithelial tissues. In Kupffer's vesicle, the reduction in Cobl coincides with a reduction in the amount of apical F-actin. Cobl represents a molecular activity that couples developmental patterning sig ls with local intracellular cytoskeletal dy mics to support morphogenesis of motile cilia(21129373).

Model organism evidence

Danio rerio (2 references)

Scanning electron microscopy revealed that sensory hair cells of both cobl- and syndapin I-morphant animals showed defects in the formation of both microtubule-dependent kinocilia and F-actin-rich stereocilia.

Reduction of Cobl by antisense morpholinos reveals an essential role in development of motile cilia in organs such as Kupffer's vesicle and the pronephros.

PMIDs: 23203810, 21129373

Mus musculus (1 reference)

Reduction of Cobl by antisense morpholinos reveals an essential role in development of motile cilia in organs such as Kupffer's vesicle and the pronephros.

PMIDs: 21129373