about
P688
Regulation of stereocilia length by myosin XVa and whirlin depends on the actin-regulatory protein Eps8Whirlin, a cytoskeletal scaffolding protein, stabilizes the paranodal region and axonal cytoskeleton in myelinated axonsDeletion of PDZD7 disrupts the Usher syndrome type 2 protein complex in cochlear hair cells and causes hearing loss in mice.Usherin, the defective protein in Usher syndrome type IIA, is likely to be a component of interstereocilia ankle links in the inner ear sensory cellsA novel Usher protein network at the periciliary reloading point between molecular transport machineries in vertebrate photoreceptor cellsWhirlin complexes with p55 at the stereocilia tip during hair cell development.Mutant analysis reveals whirlin as a dynamic organizer in the growing hair cell stereociliumThe deaf mouse mutant whirler suggests a role for whirlin in actin filament dynamics and stereocilia developmentMolecular characterization of the ankle-link complex in cochlear hair cells and its role in the hair bundle functioningWhirlin replacement restores the formation of the USH2 protein complex in whirlin knockout photoreceptorsElongation of hair cell stereocilia is defective in the mouse mutant whirlerAlternative Splice Forms Influence Functions of Whirlin in Mechanosensory Hair Cell Stereocilia.Defects in whirlin, a PDZ domain molecule involved in stereocilia elongation, cause deafness in the whirler mouse and families with DFNB31Whirlin and PDZ domain-containing 7 (PDZD7) proteins are both required to form the quaternary protein complex associated with Usher syndrome type 2Myosin XVa and whirlin, two deafness gene products required for hair bundle growth, are located at the stereocilia tips and interact directlyThe small GTPase Rac1 regulates auditory hair cell morphogenesis.RpgrORF15 connects to the usher protein network through direct interactions with multiple whirlin isoformsMyosin-XVa is required for tip localization of whirlin and differential elongation of hair-cell stereociliaAblation of whirlin long isoform disrupts the USH2 protein complex and causes vision and hearing loss.Localization of PDZD7 to the stereocilia ankle-link associates this scaffolding protein with the Usher syndrome protein network
P921
Q28504869-FBC058DD-5C15-401C-A203-4A293D15880CQ28506822-42A5F7D0-DA4C-4DDB-86A7-0FB577C3B26BQ28507622-85F558FD-EB07-4B1D-AB59-00A11EB90068Q28509442-C440680A-1022-4C5E-AC9A-A68F7102DD3FQ28510477-76CF1C00-E609-4BD5-8B04-E3A3A8D2CA8DQ28510548-5ACAB7CE-6828-428B-BB01-BC69DEBFEEF9Q28510668-7E08A944-64DD-406C-B758-886D771486FFQ28513313-847DAFD0-1278-4931-AF93-A3DF5C91CAACQ28513848-E16E20BC-0FF4-4922-B2B7-67E0A67900A6Q28585236-EE80EFF3-1D3E-4419-BDEB-E1E436E333C1Q28585988-F6348D38-9BDD-48DA-B95F-5E4B8DDEA248Q28587081-B152D2C1-3C37-4113-A192-9B15856D595FQ28590107-CFC3F96C-C01A-490A-A1CA-BFB09645DBD4Q28590110-BCA9CF86-C42C-4C6E-B9A4-0776B92ED025Q28590821-84C561D3-378F-4BD2-8597-8B110C34575AQ28591364-CF17376B-7476-439F-9B11-D64748172F1FQ28592463-FB6A83A8-CD8B-47F2-9B0A-372C740C7671Q28593953-CA651852-214F-485A-9EBB-05ECBE16970BQ33587467-2D4745A1-91B9-47D7-A80A-9330D75F2024Q36456242-D222D03F-20FA-4C42-8B16-12FA66A48A7A
P921
description
mammalian protein found in Mus musculus
@en
protein
@id
proteinë
@sq
proteïne in Whirlin
@nl
protèin
@ace
بروتين في فأر المنازل
@ar
name
Whirlin
@en
Whirlin
@nl
type
label
Whirlin
@en
Whirlin
@nl
altLabel
Whrn
@en
whirler
@en
whirlin
@en
prefLabel
Whirlin
@en
Whirlin
@nl
P361
P637
P680
P681
P682
P705
P352
P31
P352
P527
P637
NP_001008791
NP_001008792
NP_001008793
NP_001263300
XP_006538372
P680
P681
P682
P702
P703
P705
ENSMUSP00000065838
ENSMUSP00000069664
ENSMUSP00000081557
ENSMUSP00000092647
ENSMUSP00000092648
ENSMUSP00000099931
ENSMUSP00000103016
ENSMUSP00000114030
ENSMUSP00000116387
ENSMUSP00000119280