BBOF1

basal body orientation factor 1

Tier: Gold Standard Ciliary Genes

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 screens)

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

Subcellular localization

basal body

References: PMID:23900544

Functional category

Ciliary assembly/disassembly
Actin & cytoskeleton regulation
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).

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