Recombinant Mouse Protocadherin-15 (Pcdh15), partial

1. a modified ciliary transport pathway used for Pcdh15 transport into the cilium of the inner ear hair cell and coordinated by FGFR1 activity. PMID: 30061390
2. Many GABAergic interneurons, from their generation in the medial ganglionic eminence up to their settlement in the auditory cortex, express two cadherin-related (cdhr) proteins, cdhr23 and cdhr15, that form the hair bundle tip links gating the mechanoelectrical transduction channels. PMID: 28705869
3. results demonstrate that alternative heterophilic tip-link structures form stable protein-protein interactions in vitro and suggest that homophilic PCDH15-PCDH15 tip links form through the interaction of additional EC repeats PMID: 29443515
4. interactions of wild type (WT) and mutant variants of N-terminal fragments (EC1+2) of cadherin-23 and protocadherin-15, two proteins essential for inner-ear mechanotransduction, are reported. PMID: 29261728
5. data show that LHFPL5 is already present in the MET apparatus at P0 but requires PCDH15 at P3 to remain there. Shaft/ankle link localisation suggests it interacts with link proteins other than PCDH15 PMID: 29069081
6. Through an interaction with PIST, PCDH15 is retained in the trans-Golgi network and its expression is reduced in the plasma membrane. PMID: 27867666
7. Absence of Pcdh15-CD2 isoform results in the loss of tip-links in mature auditory hair cells. PMID: 24940003
8. Pcdh15 as a determinant of SERT protein expression and 5-HT homeostasis. PMID: 24405699
9. the involvement of the gene Pcdh15 in auditory function PMID: 24044941
10. These results offer new insights into the interaction between PCDH15 and CDH23 and help explain the etiology of human deafness linked to mutations in the tip-link interface. PMID: 23467356
11. crystallography, molecular dynamics simulations and binding experiments to characterize the protocadherin 15-cadherin 23 bond PMID: 23135401
12. Pcdh15 variants colocalize with rab5 and traffic apically to the hair cell bundle. PMID: 23035094
13. A novel synaptic Usher complex comprised of clarin-1 and specific isoforms of CDH23, PCDH15 and VLGR1, was identified. PMID: 22363448
14. results therefore provide genetic evidence consistent with PCDH15 and CDH23 being part of the tip-link complex and necessary for normal mechanotransduction PMID: 21532990
15. Findings reveal an essential role for PCDH15-CD2 in the formation of kinociliary links and hair bundle polarization, and show that several PCDH15 isoforms can function redundantly at tip links. PMID: 21427143
16. we examine the effects of null mutation of the Ush1c gene on subcellular localization of Myo7a, Pcdh15 and Sans in the inner ear. PMID: 21156003
17. The development and regeneration of sensory transduction in auditory hair cells requires the functional interaction of protocadherin-15 with cadherin-23. PMID: 20739546
18. Data show a significant difference in plasma TG and TC concentrations for the Pcdh15(av-3J) carriers when compared with the wild type. PMID: 19816713
19. Allelic with Ames waltzer. Insertion of a cytosine residue at nucleotide position c2099 (2099insC), which results in a frame-shift and premature stop codon. PMID: 12782354
20. CDH23 and PCDH15 play an essential long-term role in maintaining the normal organization of the stereocilia bundle. PMID: 15537665
21. Base substitution (A--> G) in consensus splice donor sequence linked to exon 14 resulting in skipping of exon 14 and splicing of exon 13-15, introducting a stop codon in coding sequence of exon 15. Pcdh15 has important role in hair-bundle morphogenesis. PMID: 15811708
22. Mutation in Pcdh15 affects the initial formation of stereocilia bundles with associated changes in the actin meshwork within the cuticular plate. The positive correlation of severity of effects with extent of mutation can be seen well into adulthood. PMID: 16408167
23. Protocadherin 15 and myosin 7a cooperate to regulate the development and function of the mechanically sensitive hair bundle. PMID: 16481439
24. Protocadherin-15 is associated with tip-link complex of inner hair cells and may be an integral component of this structure and/or required for its formation. PMID: 16807332

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Defects in Pcdh15 are the cause of the Ames waltzer (av) phenotype. It is characterized by deafness and a balance disorder, associated with the degeneration of inner ear neuroepithelia.

Cell membrane; Single-pass membrane protein. Note=Efficient localization to the plasma membrane requires the presence of LHFPL5.; [Isoform 1]: Cell membrane; Single-pass type I membrane protein.; [Isoform 2]: Cell membrane; Single-pass type I membrane protein.; [Isoform 3]: Secreted.; [Isoform 4]: Cell membrane; Single-pass type I membrane protein.; [Isoform 5]: Cell membrane; Single-pass type I membrane protein.; [Isoform 6]: Cell membrane; Single-pass type I membrane protein.; [Isoform 7]: Cell membrane; Single-pass type I membrane protein.; [Isoform 8]: Cell membrane; Single-pass type I membrane protein.; [Isoform 9]: Cell membrane; Single-pass type I membrane protein.; [Isoform 10]: Cell membrane; Single-pass type I membrane protein.; [Isoform 11]: Cell membrane; Single-pass type I membrane protein.; [Isoform 12]: Cell membrane; Single-pass type I membrane protein.; [Isoform 13]: Secreted.; [Isoform 14]: Secreted.; [Isoform 15]: Secreted.; [Isoform 16]: Secreted.; [Isoform 17]: Secreted.; [Isoform 18]: Cell membrane; Single-pass type I membrane protein.; [Isoform 19]: Cell membrane; Single-pass type I membrane protein.; [Isoform 21]: Secreted.; [Isoform 22]: Secreted.; [Isoform 23]: Secreted.

Expressed in brain and sensory epithelium of the developing inner ear. Expressed in the retina, in the photoreceptor inner segments, the outer plexiform layer, the inner nuclei layer and the ganglion cell layer and, more diffusely in the inner plexiform l

KEGG: mmu:11994

STRING: 10090.ENSMUSP00000101066

UniGene: Mm.338933