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GeneE
1 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
BBOF1
basal body orientation factor 1
Chromosome 14 Β· 14q24.3
NCBI Gene: 80127Ensembl: ENSG00000119636.17HGNC: HGNC:19855UniProt: Q8ND07
11PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
sperm axoneme assemblyflagellated sperm motilitymotile cilium assemblyaxonememethylmalonate semialdehyde dehydrogenase deficiencygenetic disorderatrial fibrillationazoospermia
✦AI Summary

Based on limited published evidence, BBOF1 (basal body orientation factor 1) plays an essential role in sperm motility and male fertility by stabilizing the sperm flagellar axonemal structure 1. The protein is required for maintaining the integrity of the 9+2 axonemal microtubule arrangement and interacts with axonemal component MNS1 and outer dense fiber protein ODF2 to ensure their stability 1. BBOF1 is exclusively expressed in male germ cells from the pachytene stage onwards. Loss of BBOF1 results in reduced sperm motility due to missing microtubule doublets and male infertility, making it a candidate gene for asthenozoospermia 1. It is dispensable for motile cilia assembly and function.

Sources cited
1
BBOF1 is required for sperm flagellar axoneme stability, interacts with ODF2 and MNS1 proteins, and its loss causes reduced motility and male infertility
PMID: 37198331
⚠Limited data available β€” This gene has 1 indexed publication. Summary and analysis may be incomplete.
Disease Associationsβ“˜20
methylmalonate semialdehyde dehydrogenase deficiencyOpen Targets
0.48Moderate
genetic disorderOpen Targets
0.17Weak
atrial fibrillationOpen Targets
0.15Weak
azoospermiaOpen Targets
0.10Suggestive
spermatogenic failure, X-linked, 5Open Targets
0.07Suggestive
spermatogenic failure 72Open Targets
0.07Suggestive
spermatogenic failure 18Open Targets
0.07Suggestive
spermatogenic failure 27Open Targets
0.07Suggestive
spermatogenic failure 46Open Targets
0.07Suggestive
spermatogenic failure 84Open Targets
0.07Suggestive
spermatogenic failure 93Open Targets
0.07Suggestive
spermatogenic failure 65Open Targets
0.07Suggestive
spermatogenic failure 19Open Targets
0.07Suggestive
spermatogenic failure 43Open Targets
0.07Suggestive
spermatogenic failure 45Open Targets
0.07Suggestive
spermatogenic failure 49Open Targets
0.07Suggestive
spermatogenic failure 82Open Targets
0.07Suggestive
spermatogenic failure 56Open Targets
0.07Suggestive
spermatogenic failure 92Open Targets
0.07Suggestive
spermatogenic failure 94Open Targets
0.07Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar β†—
Related Genes
ZMYND12Shared pathway50%FSIP2Shared pathway50%CFAP44Shared pathway50%DRC7Shared pathway40%CFAP43Shared pathway40%DNAH1Shared pathway33%
Tissue Expression6 tissues
Ovary
100%
Brain
94%
Bone Marrow
93%
Heart
75%
Liver
52%
Lung
48%
Gene Interaction Network
Click a node to explore
BBOF1ZMYND12FSIP2CFAP44DRC7CFAP43DNAH1
PROTEIN STRUCTURE
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AlphaFoldAI-predicted Β· UniProt Q8ND07
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.03LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.76 [0.56–1.03]
RankingsWhere BBOF1 stands among ~20K protein-coding genes
  • #16,676of 20,598
    Most Researched11
  • #10,230of 17,882
    Most Constrained (LOEUF)1.03
Genes detectedBBOF1
Sources retrieved1 papers
Response timeβ€”
πŸ“„ Sources
1
1
BBOF1 is required for sperm motility and male fertility by stabilizing the flagellar axoneme in mice.
PMID: 37198331
Cell Mol Life Sci Β· 2023
1.00