BBIP1

BBSome interacting protein 1

Tier: Gold Standard Ciliary Genes

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
Human ciliopathy phenotype:
Bardet-Biedl syndrome

Ciliopathy associations

  • Bardet-Biedl Syndrome

References: PMID:24026985, PMID:32055034

Subcellular localization

basal body, cilia

References: PMID:41005307, PMID:19081074, PMID:24026985, PMID:32055034

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).