CPLANE1

Summary: Refine broad cilium localization to the supported transition zone and ciliary basal body.

Reason: The UniProt cilium vocabulary mapping is sound but broader than two supported locations. Mouse Jbts17 immunostaining, NPHP1 colocalization and siRNA validation in PMID:25877302 support the transition zone, corroborating the existing accepted IBA. In PMID:27158779, full-length Xenopus GFP-Jbts17 forms a ring around centrin4-marked basal bodies; depletion and rescue experiments place recruitment of selected CPLANE components and peripheral IFT-A proteins at that site. Add ciliary basal body alongside transition zone to represent this supported core location. These are ortholog-level localization contexts, not a direct human localization experiment or an exclusive-compartment claim. The human patient-fibroblast experiment establishes impaired ciliogenesis. The separate wheat-germ binding construct comprises Jbts17 residues 907–1569 and is not the full-length localization construct.

Proposed replacements: ciliary transition zone ciliary basal body

Summary: Retain the broad membrane prediction as non-core context.

Reason: Retain the broad UniProt membrane prediction outside the primary functional synthesis. The reviewed record supplies membrane/multipass provenance and two sequence-predicted transmembrane segments. The primary experiments considered here do not establish insertion or membrane topology; the GO definition also includes proteins attached to a membrane. Basal-body or transition-zone localization is compatible with this prediction but does not demonstrate integral insertion or justify a more specific ciliary-membrane term.

Summary: Accept conserved transition-zone localization at the verified ancestral node.

Reason: The current PANTHER v19 IBD places transition-zone localization at PTN002684007, and the human Q9H799 leaf lies within that clade with its displayed 3197-residue sequence exactly represented in the MSA. The experimentally annotated mouse descendant maps to Q8CE72; its PMID:25877302 localization experiment supports the specific compartment. No target-path loss assertion was found in the current family records. This supports the conserved location without converting the mouse assay into direct human localization evidence or inferring equivalent behavior of both human products.

Summary: Accept the phylogenetically supported cilium-assembly role.

Reason: The current IBD for cilium assembly is present at PTN002684007 and the human target is its descendant. Actual mouse and human fibroblast experiments in PMID:25877302, together with Xenopus recruitment and rescue experiments in PMID:27158779, support a conserved assembly role. The human target among the descendant sources is legitimate experimental grounding, not circular evidence. Current tree, MSA and IBD records support this placement; they do not reconstruct every historical curator decision.

Summary: Accept the directly measured human fibroblast ciliogenesis defect.

Reason: PMID:25877302 directly compares serum-starved fibroblasts from a human patient carrying compound-heterozygous JBTS17 variants with an unaffected control and finds defective ciliogenesis. Mutant mouse fibroblasts are also impaired. This supports the existing IMP assembly assertion from a cellular assay, independently of the associated developmental abnormalities. Subsequent Xenopus localization, recruitment and rescue experiments help define the cellular work underlying the assembly phenotype.