BBOF1

basal body orientation factor 1

Ensembl:
ENSG00000119636
UniProt:
Q8ND07
OMIM:
620496
Synonyms:
C14ORF45, CCDC176, FBB10

Cilia effects upon perturbation of BBOF1

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

Ciliogenesis screen results (1 screen)

  • Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680

Phenotypes

Mouse phenotype:
increased mean corpuscular hemoglobin concentration, increased basophil cell number, increased circulating iron level
Mouse ciliopathy phenotype:
male infertility, female infertility

Subcellular localization

basal body

Functional category

  • Ciliary assembly/disassembly
  • Actin & cytoskeleton regulation
  • T cell biology
  • Reproduction & sperm
  • Cell migration & adhesion

Function

Required to maintain cilia orientation in multiciliated cells. Ciliogenesis occurs normally in embryos where bbof1 activity is reduced (https://doi.org/10.1242/dev.096727). Bbof1 morphants formed MCCs in the normal number (data not shown), cilia of normal length(23900544).