Manual transfer of experimentally-verified manual GO annotation data to orthologs by curator judgment of sequence similarity
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
Automatic transfer of experimentally verified manual GO annotation data to orthologs using Ensembl Compara
The ciliopathy-associated CPLANE proteins direct basal body recruitment of intraflagellar transport machinery.
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Intu, Fuz and Wdpcp form the CPLANE module, which recruits peripheral IFT-A subunits to basal bodies; Wdpcp knockdown phenocopies the IFT-A/IFT-B defects.
"Similar effects on IFT-A and IFT-B were observed after Wdpcp knockdown"
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Compound-heterozygous human WDPCP variants were found in an oral-facial-digital patient.
"In one patient, a 5-year-old male presenting with facial dysmorphism, tongue hamartoma, high arched palate, tooth abnormalities, and postaxial polydactyly, we found trans-heterozygous mutations in WDPCP."
Wdpcp, a PCP protein required for ciliogenesis, regulates directional cell migration and cell polarity by direct modulation of the actin cytoskeleton.
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Mouse Wdpcp localizes to the transition zone, the axoneme, actin stress fibers and focal adhesions, and recruits SEPT2, NPHP1 and MKS1.
"These results show Wdpcp is required for recruitment of Mks1 and Nphp1 to the ciliary transition zone."
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IFT88 localization is unaffected in Wdpcp mutant cilia.
"Ift88 distribution in the ciliary axoneme and basal body was unchanged in WdpcpCys40 mutant MEFs, indicating IFT transport is not disrupted by Wdpcp deficiency"
Structure of the ciliogenesis-associated CPLANE complex.
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Human and mouse WDPCP-INTU-FUZ form a structurally resolved complex; the WDPCP C-terminal tail binds PIPs.
"Wdpcp engages PIPs via the last 60 C-terminal residues."
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Human WDPCP carries an ~35-residue N-terminal extension relative to mouse.
"Compared to mouse, the human Wdpcp has an N-terminal extension of ~35 residues that is not resolved in the map."
Planar cell polarity acts through septins to control collective cell movement and ciliogenesis.
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Xenopus Fritz controls cortical and ciliary septin localization, cell shape during convergent extension, and ciliogenesis.
"Thus, Fritz controls cell shape but not polarization during CE"
UniProt entry O95876 (WDPCP_HUMAN)