CIBAR1

CBY1 interacting BAR domain containing 1

Ensembl:
ENSG00000188343
UniProt:
A1XBS5
OMIM:
617273
Synonyms:
BARMR1, FAM92A, FAM92A1, FLJ38979

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

Subcellular localization

basal body

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).

Model organism evidence

Mus musculus (3 references)

These findings elucidate the structural basis of FAM92A's membrane remodeling and CBY1 interaction, providing a molecular framework for its function in ciliogenesis and suggesting broader implications for FAM92 family proteins.

We previously demonstrated that Chibby1-interacting BAR domain-containing 1 (ciBAR1, formerly known as FAM92A) localizes to the ciliary base and plays a critical role in ciliogenesis.

PMIDs: 40484380, 39622622, 38197861

Drosophila (1 reference)

Cep131-Cep162 and Cby-Fam92 complexes cooperatively maintain Cep290 at the basal body and contribute to ciliogenesis initiation.

PMIDs: 38442096