InnateDB Protein
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IDBP-266763.6
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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Whrn
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Protein Name
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whirlin
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Synonyms
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1110035G07Rik; AW122018; AW742671; C430046P22Rik; Dfnb31; wi;
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Species
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Mus musculus
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Ensembl Protein
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ENSMUSP00000103016
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InnateDB Gene
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IDBG-154965 (Whrn)
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Protein Structure
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Function |
Necessary for elongation and maintenance of inner and outer hair cell stereocilia in the organ of Corti in the inner ear. {ECO:0000269PubMed:15590699}.
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Subcellular Localization |
Cytoplasm. Cell projection, stereocilium. Cell projection, growth cone. Note=Detected at the level of stereocilia in inner and outer hair cells of the cochlea and vestibule. Colocalizes with the growing ends of actin filaments. Colocalizes with MPP1 in the retina, at the outer limiting membrane (OLM), outer plexifirm layer (OPL), basal bodies and at the connecting cilium (CC).
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Disease Associations |
Note=Defects in Whrn are the cause of the phenotype whirler (wi). Mutants are characterized by deafness due to malformation of the cochlear inner and outer hair cells and by circling behavior. Stereocilia are shorter and wider than in wild- type animals and there is a decrease in the number of actin filaments in inner and outer hair cells. The number of outer hair cell stereocilia is reduced with increased spacing between them. {ECO:0000269PubMed:12124769, ECO:0000269PubMed:12833159, ECO:0000269PubMed:17326148}.
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Tissue Specificity |
Expressed in the retina. Colocalizes with RPGR in the photoreceptor connecting cilium, a thin bridge linking the cell body and the light-sensing outer segment (at protein level). Detected in the inner ear throughout development from embryonic day 12 to 20 days after birth. Displays a dynamic pattern of expression after birth, demonstrating an ordered appearance and fade-out across stereocilia rows. {ECO:0000269PubMed:12833159, ECO:0000269PubMed:15590699, ECO:0000269PubMed:22323458}.
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 11 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
Experimentally validated |
Total |
11
[view]
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Protein-Protein |
11
[view]
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Protein-DNA |
0
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Predicted by orthology |
Total |
1 [view]
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Molecular Function |
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Biological Process |
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Cellular Component |
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PDB ID |
MGI:2682003
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InterPro |
IPR001478
PDZ domain
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PFAM |
PF00595
PF13180
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PRINTS |
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PIRSF |
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SMART |
SM00228
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TIGRFAMs |
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Modification |
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SwissProt |
Q80VW5
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PhosphoSite |
PhosphoSite-Q80VW5
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TrEMBL |
I7HNW6
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UniProt Splice Variant |
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Entrez Gene |
73750
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UniGene |
Mm.449056
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RefSeq |
NP_001263300
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MGI ID |
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MGI Symbol |
Whrn
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OMIM |
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CCDS |
CCDS38778
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HPRD |
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IMGT |
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EMBL |
AK122523
AK157955
AL683828
AY739114
AY739115
AY739116
AY739117
AY739118
AY739119
AY739120
AY739121
AY739122
HQ148552
HQ148553
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GenPept |
AAV87519
AAV87520
AAV87521
AAV87522
AAV87523
AAV87524
AAV87525
AAV87526
AAV87527
AEL23234
AEL23235
BAC65805
BAE34281
CAD62267
CAD62268
CAM21546
CAM21547
CAM21548
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