Gene

bbs-9

Species
Caenorhabditis elegans
Symbol
bbs-9
Name
BBS (Bardet-Biedl Syndrome) protein 9
Synonyms
  • C48B6.8
  • CELE_C48B6.8
Biotype
protein coding gene
Automated Description
Predicted to be involved in cilium assembly. Located in ciliary basal body. Used to study Bardet-Biedl syndrome. Human ortholog(s) of this gene implicated in Bardet-Biedl syndrome; Bardet-Biedl syndrome 9; craniosynostosis; and primary ovarian insufficiency. Orthologous to human BBS9 (Bardet-Biedl syndrome 9).
WB Description
bbs-9 is orthologous to the human parathyroid hormone-responsive B1 gene, also known as BBS9; bbs-9 apart from being required for proper cilium morphology and function, is also required, similar to bbs-1, bbs-5, and bbs-8, for the regulation of insulin release from sensory neurons; bbs-9 mutants exhibit an increased secretion of insulin, daf-7, a neurally expressed TGF-beta ligand, and flp-21, a FRMF-amide neuropeptide; accordingly mutants display body size, feeding and metabolic defects; increased secretion of bbs mutants requires the Rab27/AEX-6 dense-core vesicle exocytosis machinery; the metabolic and ciliary phenotypes of bbs-9 and similar bbs mutants indicate that normal ciliary function is required for detection of food-related stimuli along with the coordination of metabolic, growth and insulin-signaling pathways.
Cross References
Additional Information
Literature

Orthology

Gene tree
PANTHER:PTHR20991
No data available
Links to orthology data in JBrowse by filter level: Stringent,  Moderate,  No filter,  Best and Best Reverse

Paralogy

Function - GO Annotations

Pathways

No data available

Phenotypes

Primary Sources
None
Other Sources
None
Phenotype Term
Annotation details
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    Disease Associations

    Cases where the expected disease association was NOT found
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      Alleles and Variants

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        Transgenic Alleles

        Species
        (carrying the transgene)
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          Models

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            Sequence Feature Viewer

            Genome location
            Assembly version
            WBcel235
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            6.9180M6.9185M6.9190M6.9195M6.9200M6.9205M6.9210M6.9215M6.9220M6.9225M

            Sequence Details

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            Expression

            Primary Sources
            Other Sources
            Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.

            Molecular Interactions

            bbs-9 molecule type
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              Genetic Interactions

              bbs-9 role
              bbs-9 genetic perturbation
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