Annotation inferences using phylogenetic trees

Gene Ontology annotation based on UniProtKB/Swiss-Prot Subcellular Location vocabulary mapping, accompanied by conservative changes to GO terms applied by UniProt

PMID:25877302

Novel Jbts17 mutant mouse model of Joubert syndrome with cilia transition zone defects and cerebellar and other ciliopathy related anomalies.

Human patient fibroblasts have impaired ciliogenesis; mouse Jbts17 localizes to the transition zone with siRNA-sensitive staining.

PMID:27158779

The ciliopathy-associated CPLANE proteins direct basal body recruitment of intraflagellar transport machinery.

Xenopus Jbts17 promotes recruitment of selected CPLANE components and peripheral IFT-A proteins at basal bodies; the biochemical mechanism remains unresolved.

PMID:31004438

Extraciliary roles of the ciliopathy protein JBTS17 in mitosis and neurogenesis.

Human cell experiments identify mitotic kinetochore localization and NDC80/LIS1 association; these contextual findings do not establish a molecular motor or bridging mechanism.

PMID:35582950

Whole-exome sequencing identified novel variants in CPLANE1 that causes oral-facial-digital syndrome Ⅵ by inducing primary cilia abnormality.

Cplane1 depletion in mouse NIH/3T3 cells reduces ciliation and alters migration and Hedgehog-pathway readouts.

PMID:40593758

The human ciliopathy protein RSG1 links the CPLANE complex to transition zone architecture.

Xenopus Jbts17 supports basal-body docking; the published study separates this target assay from human RSG1 transition-zone experiments.