BBIP1

BBSome interacting protein 1

Ensembl:
ENSG00000214413
UniProt:
A8MTZ0
OMIM:
613605
Synonyms:
BA348N5.3, BBIP10, BBS18, NCRNA00081

Cilia effects upon perturbation of BBIP1

Cilia number / % ciliated:
Decreased cilia number

Ciliogenesis screen results (2 screens)

  • Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680
  • Pusapati et al. 2018 (CRISPR) [CRISPR]: Positive Regulator (Hh signaling, neg_rank=373, lfc=-2.75) PMID:30270045

Phenotypes

Mouse phenotype:
preweaning lethality, incomplete penetrance, decreased respiratory quotient, abnormal skin morphology, no spontaneous movement, decreased mean corpuscular volume
Mouse ciliopathy phenotype:
abnormal pancreas morphology, kyphosis, abnormal spine curvature
Human ciliopathy phenotype:
Bardet-Biedl syndrome

Ciliopathy associations

  • Bardet-Biedl Syndrome

Subcellular localization

basal body, cilia

Functional category

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

Function

Component of BBSome, implicated in BBS (BBS18) (24026985, 32055034). Remarkably, the extent of BBIP10 knockdown correlated with a dramatic decrease in ciliation, indicating that BBIP10 is essential for ciliogenesis(PMID: 19081074).

Model organism evidence

Danio rerio (1 reference)

Similar to other BBSome subunits, BBIP10 localizes to the primary cilium, BBIP10 is present exclusively in ciliated organisms, and depletion of BBIP10 yields characteristic BBS phenotypes in zebrafish.

PMIDs: 19081074