CIBAR1

Cilia effects upon perturbation of CIBAR1

Loss-of-function effect:

Shorter cilia

Phenotypes

Mouse phenotype:

increased circulating amylase level, decreased erythrocyte cell number, increased lean body mass, decreased leukocyte cell number, decreased hemoglobin content, decreased circulating glycerol level, decreased total body fat amount, increased circulating alkaline phosphatase level, abnormal humerus morphology, improved glucose tolerance, decreased hematocrit

Human ciliopathy phenotype:

polydactyly, postaxial, A9

Ciliopathy associations

• Postaxial Polydactyly

References: PMID:30395363, PMID:41641302

Subcellular localization

basal body

References: PMID:41410385, PMID:27528616, PMID:30395363

Functional category

• Ciliary assembly/disassembly
• Trafficking (BBSome, small GTPases, vesicular transport, ATPases)
• Actin & cytoskeleton regulation
• Transition zone

Function

Interact with Cby1 to promote ciliogenesis via regulation of membrane-remodeling processes, inducing the formation of membrane globule like structures, which contain Rab8 (27528616). Mutated in nonsyndromic postaxial polydactyly. Role in limb development (30395363).