BBOF1 Gene

Name basal body orientation factor 1
Description Predicted to be involved in sperm axoneme assembly. Predicted to act upstream of or within several processes, including cilium movement involved in cell motility; negative regulation of microtubule depolymerization; and protein stabilization. Predicted to be located in axoneme; ciliary basal body; and sperm flagellum. [provided by Alliance of Genome Resources, Mar 2025]
Summary
{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\n Recent work has identified BBOF1 as a novel coiled‐coil protein that plays a critical role in the alignment and maintenance of cilia orientation in multiciliated cells (MCCs)."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "1"}]}, {"type": "t", "text": " The expression of BBOF1 is induced early in MCC differentiation under the regulation of the master transcription factor Foxj1, yet its loss does not impede the overall processes of ciliogenesis or cell differentiation. Rather, BBOF1 is essential for ensuring that the numerous motile cilia, organized around basal bodies, maintain a precise planar orientation. In BBOF1‐deficient cells, the normally coordinated ciliary array becomes severely disorganized, compromising the cell's ability to sustain directional fluid flow. Notably, even when exposed to external patterning signals or hydrodynamic forces, the mutant cilia exhibit an inability to preserve their alignment. Conversely, misexpression of BBOF1 can promote cilia alignment even in conditions where cytoskeletal elements such as microtubules and actin filaments are disrupted. Localization studies further indicate that BBOF1 associates with a polar structure adjacent to the basal body, implicating it as a pivotal component in the molecular machinery that governs planar cell polarity in MCCs.\n "}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Yuan-Hung Chien, Michael E Werner, Jennifer Stubbs, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Bbof1 is required to maintain cilia orientation."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Development (2013)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1242/dev.096727"}], "href": "https://doi.org/10.1242/dev.096727"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "23900544"}], "href": "https://pubmed.ncbi.nlm.nih.gov/23900544"}]}]}]}
NCBI Gene ID 80127
API
Download Associations
Predicted Functions View BBOF1's ARCHS4 Predicted Functions.
Co-expressed Genes View BBOF1's ARCHS4 Predicted Functions.
Expression in Tissues and Cell Lines View BBOF1's ARCHS4 Predicted Functions.

Functional Associations

BBOF1 has 1,225 functional associations with biological entities spanning 6 categories (chemical, functional term, phrase or reference, disease, phenotype or trait, cell line, cell type or tissue, gene, protein or microRNA, sequence feature) extracted from 25 datasets.

Click the + buttons to view associations for BBOF1 from the datasets below.

If available, associations are ranked by standardized value

Dataset Summary
Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles tissue samples with high or low expression of BBOF1 gene relative to other tissue samples from the Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles dataset.
Carcinogenome Chemical Perturbation Carcinogenicity Signatures small molecule perturbations changing expression of BBOF1 gene from the Carcinogenome Chemical Perturbation Carcinogenicity Signatures dataset.
CellMarker Gene-Cell Type Associations cell types associated with BBOF1 gene from the CellMarker Gene-Cell Type Associations dataset.
CM4AI KOLF21J CRISPRi Gene Perturbation Atlas gene perturbations changing expression of BBOF1 gene from the CM4AI KOLF21J CRISPRi Gene Perturbation Atlas dataset.
COMPARTMENTS Curated Protein Localization Evidence Scores 2025 cellular components containing BBOF1 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.
COMPARTMENTS Experimental Protein Localization Evidence Scores 2025 cellular components containing BBOF1 protein in low- or high-throughput protein localization assays from the COMPARTMENTS Experimental Protein Localization Evidence Scores 2025 dataset.
COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 cellular components co-occuring with BBOF1 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.
DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 diseases co-occuring with BBOF1 gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
GO Biological Process Annotations 2025 biological processes involving BBOF1 gene from the curated GO Biological Process Annotations2025 dataset.
GO Cellular Component Annotations 2025 cellular components containing BBOF1 protein from the curated GO Cellular Component Annotations 2025 dataset.
GTEx eQTL 2025 SNPs regulating expression of BBOF1 gene from the GTEx eQTL 2025 dataset.
GTEx Tissue-Specific Aging Signatures tissue samples with high or low expression of BBOF1 gene relative to other tissue samples from the GTEx Tissue-Specific Aging Signatures dataset.
GWAS Catalog SNP-Phenotype Associations 2025 phenotypes associated with BBOF1 gene in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.
IMPC Knockout Mouse Phenotypes phenotypes of mice caused by BBOF1 gene knockout from the IMPC Knockout Mouse Phenotypes dataset.
JASPAR Predicted Human Transcription Factor Targets 2025 transcription factors regulating expression of BBOF1 gene predicted using known transcription factor binding site motifs from the JASPAR Predicted Human Transcription Factor Targets dataset.
JASPAR Predicted Mouse Transcription Factor Targets 2025 transcription factors regulating expression of BBOF1 gene predicted using known transcription factor binding site motifs from the JASPAR Predicted Mouse Transcription Factor Targets 2025 dataset.
LINCS L1000 CMAP Chemical Perturbation Consensus Signatures small molecule perturbations changing expression of BBOF1 gene from the LINCS L1000 CMAP Chemical Perturbations Consensus Signatures dataset.
NIBR DRUG-seq U2OS MoA Box Gene Expression Profiles drug perturbations changing expression of BBOF1 gene from the NIBR DRUG-seq U2OS MoA Box dataset.
Rummagene Transcription Factor Associations 2026 transcription factors regulating expression of BBOF1 gene from the Rummagene Transcription Factor Associations 2026 dataset.
RummaGEO Drug Perturbation Signatures drug perturbations changing expression of BBOF1 gene from the RummaGEO Drug Perturbation Signatures dataset.
RummaGEO Gene Perturbation Signatures gene perturbations changing expression of BBOF1 gene from the RummaGEO Gene Perturbation Signatures dataset.
Sci-Plex Drug Perturbation Signatures drug perturbations changing expression of BBOF1 gene from the Sci-Plex Drug Perturbation Signatures dataset.
TISSUES Curated Tissue Protein Expression Evidence Scores 2025 tissues with high expression of BBOF1 protein from the TISSUES Curated Tissue Protein Expression Evidence Scores 2025 dataset.
TISSUES Experimental Tissue Protein Expression Evidence Scores 2025 tissues with high expression of BBOF1 protein in proteomics datasets from the TISSUES Experimental Tissue Protein Expression Evidence Scores 2025 dataset.
TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 tissues co-occuring with BBOF1 protein in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 dataset.