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Q80VW5

- WHRN_MOUSE

UniProt

Q80VW5 - WHRN_MOUSE

Protein

Whirlin

Gene

Dfnb31

Organism
Mus musculus (Mouse)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 92 (01 Oct 2014)
      Sequence version 3 (04 Dec 2007)
      Previous versions | rss
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    Functioni

    Necessary for elongation and maintenance of inner and outer hair cell stereocilia in the organ of Corti in the inner ear.1 Publication

    GO - Molecular functioni

    1. protein binding Source: IntAct

    GO - Biological processi

    1. inner ear receptor stereocilium organization Source: UniProtKB
    2. retina homeostasis Source: Ensembl
    3. sensory perception of light stimulus Source: Ensembl
    4. sensory perception of sound Source: MGI

    Keywords - Biological processi

    Hearing

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Whirlin
    Gene namesi
    Name:Dfnb31
    Synonyms:Kiaa1526, Whrn
    OrganismiMus musculus (Mouse)
    Taxonomic identifieri10090 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaSciurognathiMuroideaMuridaeMurinaeMusMus
    ProteomesiUP000000589: Chromosome 4

    Organism-specific databases

    MGIiMGI:2682003. Whrn.

    Subcellular locationi

    Cytoplasm. Cell projectionstereocilium. Cell projectiongrowth 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).

    GO - Cellular componenti

    1. actin filament Source: MGI
    2. cilium Source: MGI
    3. cytoplasm Source: UniProtKB-SubCell
    4. growth cone Source: UniProtKB-SubCell
    5. stereocilia ankle link complex Source: MGI
    6. stereocilium Source: UniProtKB
    7. stereocilium bundle Source: MGI

    Keywords - Cellular componenti

    Cell projection, Cytoplasm

    Pathology & Biotechi

    Involvement in diseasei

    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.3 Publications

    Keywords - Diseasei

    Deafness

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 918918WhirlinPRO_0000065969Add
    BLAST

    Proteomic databases

    PaxDbiQ80VW5.
    PRIDEiQ80VW5.

    PTM databases

    PhosphoSiteiQ80VW5.

    Expressioni

    Tissue specificityi

    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.3 Publications

    Developmental stagei

    Expression decreases by 11 days after birth in inner ear hair cells and by 14 days after birth in outer ear hair cells. Expressed in vestibular hair cells at high levels through to adulthood.1 Publication

    Gene expression databases

    ArrayExpressiQ80VW5.
    BgeeiQ80VW5.
    CleanExiMM_WHRN.
    GenevestigatoriQ80VW5.

    Interactioni

    Subunit structurei

    Forms homooligomers. Binds CASK, MPP1/p55 and MYO15A via the C-terminal PDZ domain. Binding to MYO15A is necessary for localization of DFNB31/WHRN to stereocilia tips. Interacts with USH2A, GPR98/MASS1 and LRRC4C/NGL1. Interacts with RPGR. Interacts with EPS8.7 Publications

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    Lrrc4cQ8C0314EBI-7417603,EBI-7417983
    Myo15aQ9QZZ45EBI-7417603,EBI-4281382
    RpgrQ9R0X5-52EBI-6915655,EBI-6915646

    Protein-protein interaction databases

    IntActiQ80VW5. 4 interactions.
    MINTiMINT-1895268.

    Structurei

    3D structure databases

    ProteinModelPortaliQ80VW5.
    SMRiQ80VW5. Positions 44-379, 824-915.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini141 – 22484PDZ 1PROSITE-ProRule annotationAdd
    BLAST
    Domaini280 – 36283PDZ 2PROSITE-ProRule annotationAdd
    BLAST
    Domaini827 – 91084PDZ 3PROSITE-ProRule annotationAdd
    BLAST

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi9 – 3224Ala/Gly/Ser-richAdd
    BLAST
    Compositional biasi584 – 723140Pro-richAdd
    BLAST

    Sequence similaritiesi

    Contains 3 PDZ (DHR) domains.PROSITE-ProRule annotation

    Keywords - Domaini

    Repeat

    Phylogenomic databases

    eggNOGiNOG291372.
    GeneTreeiENSGT00530000063178.
    HOVERGENiHBG056634.
    InParanoidiQ80VW5.
    OMAiAPQNRSP.
    OrthoDBiEOG7J9VQG.
    PhylomeDBiQ80VW5.
    TreeFamiTF325033.

    Family and domain databases

    Gene3Di2.30.42.10. 3 hits.
    InterProiIPR001478. PDZ.
    [Graphical view]
    PfamiPF00595. PDZ. 3 hits.
    [Graphical view]
    SMARTiSM00228. PDZ. 3 hits.
    [Graphical view]
    SUPFAMiSSF50156. SSF50156. 3 hits.
    PROSITEiPS50106. PDZ. 3 hits.
    [Graphical view]

    Sequences (12)i

    Sequence statusi: Complete.

    This entry describes 12 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q80VW5-1) [UniParc]FASTAAdd to Basket

    This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

    « Hide

    MNAQLDGLSV SSSSTGSLGS AAAAAGGGGG AGLRLLSANV RQLHQALTAL    50
    LSEPEREQFT HCLNAYHARR NVFDLVRTLR VLLDSPVKRR LLPMLRLVIP 100
    RSDQLLFDQY TAEGLYLPAT TPYRQPAWAA PDGAGPGEVR LVSLRRAKAH 150
    EGLGFSIRGG SEHGVGIYVS LVEPGSLAEK EGLRVGDQIL RVNDKSLARV 200
    THAEAVKALK GSKKLVLSVY SAGRIPGGYV TNHIYTWVDP QGRSTSPPSS 250
    LPQPHGSTLR QREDDRRSTL HLLQSGDEKK VNLVLGDGRS LGLTIRGGAE 300
    YGLGIYITGV DPGSEAESSG LKVGDQILEV NGRSFLNILH DEAVKLLKSS 350
    RHLILTVKDV GRLPHARTTV DQTKWIASSR IGESVANSAG FPGDHTEEGT 400
    SKPGFYKGPA GSQVTLSSLG NQTRALLDDQ ARHLLTEQER ATMMYYLAQY 450
    RGGTISVEAM VMALFELLNT HAKFSLLSEV RSIISPQDLD RFDHLVLRRE 500
    IESMKARQPP GPGVGDTYSM VSYSDTGSST GSHGTSTTVS SARERLLWLI 550
    DLMENTLDLE GTGETTQGST NALPDVSVDD VKSPSEDLPG IKPPPPPPPL 600
    AQGHDRLLGQ PRKPGREDPA PLSSAAHSGI VFSAPRNRSP PPGTAPTPGP 650
    SSAQDSPSSP IYASISHANP SSRKPLDTHL ALVNQHPIGP FPRVQSPPHL 700
    KSPPAETPGA GACLPPPSPS EHPDAVGANQ HFVLVEVHRP DSEPDVNEVR 750
    ALPQTRTAST LSQLSDSGQT LSEDSGVDAG ETEASTSGRG RQTASAKNKN 800
    GKEQPRTERT AEGANKPPGL LEPTSTLVRV RKSAATLGIA IEGGANTRQP 850
    LPRIVTIQRG GSAHNCGQLK VGHVILEVNG QTLRGKEHKE AARIIAEAFK 900
    TKERDYIDFL VTEFNVML 918
    Length:918
    Mass (Da):98,012
    Last modified:December 4, 2007 - v3
    Checksum:i7D5EA44DE0645AA4
    GO
    Isoform 2 (identifier: Q80VW5-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         390-390: G → GSGLR
         544-554: Missing.

    Show »
    Length:911
    Mass (Da):97,013
    Checksum:i3195E2DB7907E92F
    GO
    Isoform 3 (identifier: Q80VW5-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         544-554: Missing.

    Note: Major isoform.

    Show »
    Length:907
    Mass (Da):96,600
    Checksum:iC23C5823AE9BD457
    GO
    Isoform 4 (identifier: Q80VW5-4) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         544-554: Missing.
         758-758: Missing.

    Show »
    Length:906
    Mass (Da):96,528
    Checksum:iF96EFC6C1DF9D029
    GO
    Isoform 5 (identifier: Q80VW5-5) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-357: Missing.
         358-402: KDVGRLPHAR...GDHTEEGTSK → MTTWCHRPRV...SSGLCPSVFQ
         544-554: Missing.

    Show »
    Length:550
    Mass (Da):58,669
    Checksum:iFB4D9E8BDD6DD09B
    GO
    Isoform 6 (identifier: Q80VW5-6) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-442: Missing.

    Show »
    Length:476
    Mass (Da):50,709
    Checksum:iBDA13DA400C3E0F4
    GO
    Isoform 7 (identifier: Q80VW5-7) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-442: Missing.
         544-554: Missing.

    Show »
    Length:465
    Mass (Da):49,296
    Checksum:i5EE7EB675198EBE2
    GO
    Isoform 8 (identifier: Q80VW5-8) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-503: Missing.
         544-554: Missing.

    Show »
    Length:404
    Mass (Da):42,208
    Checksum:i47E37E2D1D9647EE
    GO
    Isoform 9 (identifier: Q80VW5-9) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-552: Missing.

    Show »
    Length:366
    Mass (Da):38,480
    Checksum:i4EECE4260B616897
    GO
    Isoform 10 (identifier: Q80VW5-10) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         544-571: ERLLWLIDLMENTLDLEGTGETTQGSTN → VSHPCPILGEKVRARIRCFPPKPRVPHL
         572-918: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:571
    Mass (Da):61,584
    Checksum:iB1B7F2811EF53A9D
    GO
    Isoform 11 (identifier: Q80VW5-11) [UniParc]FASTAAdd to Basket

    Also known as: WhirlinNT2

    The sequence of this isoform differs from the canonical sequence as follows:
         555-566: NTLDLEGTGETT → VPSFCRGRLGVP
         567-918: Missing.

    Note: May be due to intron retention.

    Show »
    Length:566
    Mass (Da):61,080
    Checksum:i4EEDB18EC7979658
    GO
    Isoform 12 (identifier: Q80VW5-12) [UniParc]FASTAAdd to Basket

    Also known as: WhirlinNT1

    The sequence of this isoform differs from the canonical sequence as follows:
         323-918: Missing.

    Note: May be due to intron retention.

    Show »
    Length:322
    Mass (Da):34,324
    Checksum:i7DC71EAD135F55ED
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti504 – 5041M → V in BAE34281. (PubMed:16141072)Curated

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 552552Missing in isoform 9. 1 PublicationVSP_029934Add
    BLAST
    Alternative sequencei1 – 503503Missing in isoform 8. 1 PublicationVSP_029935Add
    BLAST
    Alternative sequencei1 – 442442Missing in isoform 6 and isoform 7. 1 PublicationVSP_029936Add
    BLAST
    Alternative sequencei1 – 357357Missing in isoform 5. 1 PublicationVSP_029937Add
    BLAST
    Alternative sequencei323 – 918596Missing in isoform 12. 1 PublicationVSP_045293Add
    BLAST
    Alternative sequencei358 – 40245KDVGR…EGTSK → MTTWCHRPRVRWSGSCVCGD HQHNARSHSLPRSLDSSGLC PSVFQ in isoform 5. 1 PublicationVSP_029938Add
    BLAST
    Alternative sequencei390 – 3901G → GSGLR in isoform 2. 1 PublicationVSP_029939
    Alternative sequencei544 – 57128ERLLW…QGSTN → VSHPCPILGEKVRARIRCFP PKPRVPHL in isoform 10. 1 PublicationVSP_029940Add
    BLAST
    Alternative sequencei544 – 55411Missing in isoform 2, isoform 3, isoform 4, isoform 5, isoform 7 and isoform 8. 2 PublicationsVSP_029941Add
    BLAST
    Alternative sequencei555 – 56612NTLDL…TGETT → VPSFCRGRLGVP in isoform 11. 1 PublicationVSP_045294Add
    BLAST
    Alternative sequencei567 – 918352Missing in isoform 11. 1 PublicationVSP_045295Add
    BLAST
    Alternative sequencei572 – 918347Missing in isoform 10. 1 PublicationVSP_029942Add
    BLAST
    Alternative sequencei758 – 7581Missing in isoform 4. 2 PublicationsVSP_029943

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AY739114 mRNA. Translation: AAV87519.1.
    AY739115 mRNA. Translation: AAV87520.1.
    AY739116 mRNA. Translation: AAV87521.1.
    AY739117 mRNA. Translation: AAV87522.1.
    AY739118 mRNA. Translation: AAV87523.1.
    AY739119 mRNA. Translation: AAV87524.1.
    AY739120 mRNA. Translation: AAV87525.1.
    AY739121 mRNA. Translation: AAV87526.1.
    AY739122 mRNA. Translation: AAV87527.1.
    HQ148552 mRNA. Translation: AEL23234.1.
    HQ148553 mRNA. Translation: AEL23235.1.
    AK157955 mRNA. Translation: BAE34281.1.
    AL683828 Genomic DNA. Translation: CAD62267.1.
    AL683828 Genomic DNA. Translation: CAD62268.1.
    AL683828 Genomic DNA. Translation: CAM21546.1.
    AL683828 Genomic DNA. Translation: CAM21547.1.
    AL683828 Genomic DNA. Translation: CAM21548.1.
    AK122523 mRNA. Translation: BAC65805.1.
    CCDSiCCDS18255.1. [Q80VW5-1]
    CCDS18256.1. [Q80VW5-4]
    CCDS18257.1. [Q80VW5-3]
    CCDS38778.1. [Q80VW5-2]
    RefSeqiNP_001008791.1. NM_001008791.2. [Q80VW5-1]
    NP_001008792.1. NM_001008792.2. [Q80VW5-2]
    NP_001008793.1. NM_001008793.2. [Q80VW5-4]
    NP_001263300.1. NM_001276371.1. [Q80VW5-12]
    NP_082916.1. NM_028640.2. [Q80VW5-3]
    UniGeneiMm.300397.

    Genome annotation databases

    EnsembliENSMUST00000063650; ENSMUSP00000069664; ENSMUSG00000039137. [Q80VW5-3]
    ENSMUST00000063672; ENSMUSP00000065838; ENSMUSG00000039137. [Q80VW5-10]
    ENSMUST00000084510; ENSMUSP00000081557; ENSMUSG00000039137. [Q80VW5-1]
    ENSMUST00000095037; ENSMUSP00000092647; ENSMUSG00000039137. [Q80VW5-8]
    ENSMUST00000095038; ENSMUSP00000092648; ENSMUSG00000039137. [Q80VW5-6]
    ENSMUST00000102867; ENSMUSP00000099931; ENSMUSG00000039137. [Q80VW5-4]
    ENSMUST00000107393; ENSMUSP00000103016; ENSMUSG00000039137. [Q80VW5-2]
    ENSMUST00000119294; ENSMUSP00000114030; ENSMUSG00000039137. [Q80VW5-7]
    GeneIDi73750.
    KEGGimmu:73750.
    UCSCiuc008tgf.1. mouse. [Q80VW5-9]
    uc008tgg.1. mouse. [Q80VW5-5]
    uc008tgh.1. mouse. [Q80VW5-1]
    uc008tgi.1. mouse. [Q80VW5-4]
    uc008tgj.1. mouse. [Q80VW5-2]
    uc008tgk.1. mouse. [Q80VW5-3]
    uc008tgm.1. mouse. [Q80VW5-8]
    uc008tgn.1. mouse. [Q80VW5-7]
    uc008tgp.1. mouse. [Q80VW5-10]

    Keywords - Coding sequence diversityi

    Alternative splicing

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AY739114 mRNA. Translation: AAV87519.1 .
    AY739115 mRNA. Translation: AAV87520.1 .
    AY739116 mRNA. Translation: AAV87521.1 .
    AY739117 mRNA. Translation: AAV87522.1 .
    AY739118 mRNA. Translation: AAV87523.1 .
    AY739119 mRNA. Translation: AAV87524.1 .
    AY739120 mRNA. Translation: AAV87525.1 .
    AY739121 mRNA. Translation: AAV87526.1 .
    AY739122 mRNA. Translation: AAV87527.1 .
    HQ148552 mRNA. Translation: AEL23234.1 .
    HQ148553 mRNA. Translation: AEL23235.1 .
    AK157955 mRNA. Translation: BAE34281.1 .
    AL683828 Genomic DNA. Translation: CAD62267.1 .
    AL683828 Genomic DNA. Translation: CAD62268.1 .
    AL683828 Genomic DNA. Translation: CAM21546.1 .
    AL683828 Genomic DNA. Translation: CAM21547.1 .
    AL683828 Genomic DNA. Translation: CAM21548.1 .
    AK122523 mRNA. Translation: BAC65805.1 .
    CCDSi CCDS18255.1. [Q80VW5-1 ]
    CCDS18256.1. [Q80VW5-4 ]
    CCDS18257.1. [Q80VW5-3 ]
    CCDS38778.1. [Q80VW5-2 ]
    RefSeqi NP_001008791.1. NM_001008791.2. [Q80VW5-1 ]
    NP_001008792.1. NM_001008792.2. [Q80VW5-2 ]
    NP_001008793.1. NM_001008793.2. [Q80VW5-4 ]
    NP_001263300.1. NM_001276371.1. [Q80VW5-12 ]
    NP_082916.1. NM_028640.2. [Q80VW5-3 ]
    UniGenei Mm.300397.

    3D structure databases

    ProteinModelPortali Q80VW5.
    SMRi Q80VW5. Positions 44-379, 824-915.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    IntActi Q80VW5. 4 interactions.
    MINTi MINT-1895268.

    PTM databases

    PhosphoSitei Q80VW5.

    Proteomic databases

    PaxDbi Q80VW5.
    PRIDEi Q80VW5.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENSMUST00000063650 ; ENSMUSP00000069664 ; ENSMUSG00000039137 . [Q80VW5-3 ]
    ENSMUST00000063672 ; ENSMUSP00000065838 ; ENSMUSG00000039137 . [Q80VW5-10 ]
    ENSMUST00000084510 ; ENSMUSP00000081557 ; ENSMUSG00000039137 . [Q80VW5-1 ]
    ENSMUST00000095037 ; ENSMUSP00000092647 ; ENSMUSG00000039137 . [Q80VW5-8 ]
    ENSMUST00000095038 ; ENSMUSP00000092648 ; ENSMUSG00000039137 . [Q80VW5-6 ]
    ENSMUST00000102867 ; ENSMUSP00000099931 ; ENSMUSG00000039137 . [Q80VW5-4 ]
    ENSMUST00000107393 ; ENSMUSP00000103016 ; ENSMUSG00000039137 . [Q80VW5-2 ]
    ENSMUST00000119294 ; ENSMUSP00000114030 ; ENSMUSG00000039137 . [Q80VW5-7 ]
    GeneIDi 73750.
    KEGGi mmu:73750.
    UCSCi uc008tgf.1. mouse. [Q80VW5-9 ]
    uc008tgg.1. mouse. [Q80VW5-5 ]
    uc008tgh.1. mouse. [Q80VW5-1 ]
    uc008tgi.1. mouse. [Q80VW5-4 ]
    uc008tgj.1. mouse. [Q80VW5-2 ]
    uc008tgk.1. mouse. [Q80VW5-3 ]
    uc008tgm.1. mouse. [Q80VW5-8 ]
    uc008tgn.1. mouse. [Q80VW5-7 ]
    uc008tgp.1. mouse. [Q80VW5-10 ]

    Organism-specific databases

    CTDi 73750.
    MGIi MGI:2682003. Whrn.
    Rougei Search...

    Phylogenomic databases

    eggNOGi NOG291372.
    GeneTreei ENSGT00530000063178.
    HOVERGENi HBG056634.
    InParanoidi Q80VW5.
    OMAi APQNRSP.
    OrthoDBi EOG7J9VQG.
    PhylomeDBi Q80VW5.
    TreeFami TF325033.

    Miscellaneous databases

    ChiTaRSi DFNB31. mouse.
    NextBioi 338987.
    PROi Q80VW5.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q80VW5.
    Bgeei Q80VW5.
    CleanExi MM_WHRN.
    Genevestigatori Q80VW5.

    Family and domain databases

    Gene3Di 2.30.42.10. 3 hits.
    InterProi IPR001478. PDZ.
    [Graphical view ]
    Pfami PF00595. PDZ. 3 hits.
    [Graphical view ]
    SMARTi SM00228. PDZ. 3 hits.
    [Graphical view ]
    SUPFAMi SSF50156. SSF50156. 3 hits.
    PROSITEi PS50106. PDZ. 3 hits.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Myosin-XVa is required for tip localization of whirlin and differential elongation of hair-cell stereocilia."
      Belyantseva I.A., Boger E.T., Naz S., Frolenkov G.I., Sellers J.R., Ahmed Z.M., Griffith A.J., Friedman T.B.
      Nat. Cell Biol. 7:148-156(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1; 2; 3; 4; 5; 6; 7; 8 AND 9), INTERACTION WITH MYO15A, SUBCELLULAR LOCATION.
      Strain: C57BL/6.
      Tissue: Inner ear.
    2. "RpgrORF15 connects to the usher protein network through direct interactions with multiple whirlin isoforms."
      Wright R.N., Hong D.H., Perkins B.
      Invest. Ophthalmol. Vis. Sci. 53:1519-1529(2012) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 11 AND 12), INTERACTION WITH RPGR, TISSUE SPECIFICITY.
      Strain: C57BL/6.
      Tissue: Retina.
    3. "The transcriptional landscape of the mammalian genome."
      Carninci P., Kasukawa T., Katayama S., Gough J., Frith M.C., Maeda N., Oyama R., Ravasi T., Lenhard B., Wells C., Kodzius R., Shimokawa K., Bajic V.B., Brenner S.E., Batalov S., Forrest A.R., Zavolan M., Davis M.J.
      , Wilming L.G., Aidinis V., Allen J.E., Ambesi-Impiombato A., Apweiler R., Aturaliya R.N., Bailey T.L., Bansal M., Baxter L., Beisel K.W., Bersano T., Bono H., Chalk A.M., Chiu K.P., Choudhary V., Christoffels A., Clutterbuck D.R., Crowe M.L., Dalla E., Dalrymple B.P., de Bono B., Della Gatta G., di Bernardo D., Down T., Engstrom P., Fagiolini M., Faulkner G., Fletcher C.F., Fukushima T., Furuno M., Futaki S., Gariboldi M., Georgii-Hemming P., Gingeras T.R., Gojobori T., Green R.E., Gustincich S., Harbers M., Hayashi Y., Hensch T.K., Hirokawa N., Hill D., Huminiecki L., Iacono M., Ikeo K., Iwama A., Ishikawa T., Jakt M., Kanapin A., Katoh M., Kawasawa Y., Kelso J., Kitamura H., Kitano H., Kollias G., Krishnan S.P., Kruger A., Kummerfeld S.K., Kurochkin I.V., Lareau L.F., Lazarevic D., Lipovich L., Liu J., Liuni S., McWilliam S., Madan Babu M., Madera M., Marchionni L., Matsuda H., Matsuzawa S., Miki H., Mignone F., Miyake S., Morris K., Mottagui-Tabar S., Mulder N., Nakano N., Nakauchi H., Ng P., Nilsson R., Nishiguchi S., Nishikawa S., Nori F., Ohara O., Okazaki Y., Orlando V., Pang K.C., Pavan W.J., Pavesi G., Pesole G., Petrovsky N., Piazza S., Reed J., Reid J.F., Ring B.Z., Ringwald M., Rost B., Ruan Y., Salzberg S.L., Sandelin A., Schneider C., Schoenbach C., Sekiguchi K., Semple C.A., Seno S., Sessa L., Sheng Y., Shibata Y., Shimada H., Shimada K., Silva D., Sinclair B., Sperling S., Stupka E., Sugiura K., Sultana R., Takenaka Y., Taki K., Tammoja K., Tan S.L., Tang S., Taylor M.S., Tegner J., Teichmann S.A., Ueda H.R., van Nimwegen E., Verardo R., Wei C.L., Yagi K., Yamanishi H., Zabarovsky E., Zhu S., Zimmer A., Hide W., Bult C., Grimmond S.M., Teasdale R.D., Liu E.T., Brusic V., Quackenbush J., Wahlestedt C., Mattick J.S., Hume D.A., Kai C., Sasaki D., Tomaru Y., Fukuda S., Kanamori-Katayama M., Suzuki M., Aoki J., Arakawa T., Iida J., Imamura K., Itoh M., Kato T., Kawaji H., Kawagashira N., Kawashima T., Kojima M., Kondo S., Konno H., Nakano K., Ninomiya N., Nishio T., Okada M., Plessy C., Shibata K., Shiraki T., Suzuki S., Tagami M., Waki K., Watahiki A., Okamura-Oho Y., Suzuki H., Kawai J., Hayashizaki Y.
      Science 309:1559-1563(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 10).
      Strain: C57BL/6J.
      Tissue: Inner ear.
    4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
      Strain: C57BL/6J.
    5. "Prediction of the coding sequences of mouse homologues of KIAA gene: II. The complete nucleotide sequences of 400 mouse KIAA-homologous cDNAs identified by screening of terminal sequences of cDNA clones randomly sampled from size-fractionated libraries."
      Okazaki N., Kikuno R., Ohara R., Inamoto S., Aizawa H., Yuasa S., Nakajima D., Nagase T., Ohara O., Koga H.
      DNA Res. 10:35-48(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 38-918 (ISOFORM 4).
      Tissue: Brain.
    6. "Elongation of hair cell stereocilia is defective in the mouse mutant whirler."
      Holme R.H., Kiernan B.W., Brown S.D.M., Steel K.P.
      J. Comp. Neurol. 450:94-102(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: DISEASE.
    7. "Defects in whirlin, a PDZ domain molecule involved in stereocilia elongation, cause deafness in the whirler mouse and families with DFNB31."
      Mburu P., Mustapha M., Varela A., Weil D., El-Amraoui A., Holme R.H., Rump A., Hardisty R.E., Blanchard S., Coimbra R.S., Perfettini I., Parkinson N., Mallon A.-M., Glenister P., Rogers M.J., Paige A.J., Moir L., Clay J.
      , Rosenthal A., Liu X.Z., Blanco G., Steel K.P., Petit C., Brown S.D.
      Nat. Genet. 34:421-428(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: DISEASE, ALTERNATIVE SPLICING, TISSUE SPECIFICITY.
    8. "Mutant analysis reveals whirlin as a dynamic organizer in the growing hair cell stereocilium."
      Kikkawa Y., Mburu P., Morse S., Kominami R., Townsend S., Brown S.D.M.
      Hum. Mol. Genet. 14:391-400(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, SUBCELLULAR LOCATION, TISSUE SPECIFICITY, DEVELOPMENTAL STAGE.
    9. "Myosin XVa and whirlin, two deafness gene products required for hair bundle growth, are located at the stereocilia tips and interact directly."
      Delprat B., Michel V., Goodyear R., Yamasaki Y., Michalski N., El-Amraoui A., Perfettini I., Legrain P., Richardson G., Hardelin J.-P., Petit C.
      Hum. Mol. Genet. 14:401-410(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: SUBUNIT, INTERACTION WITH LRRC4C; MYO7A AND MYO15A, SUBCELLULAR LOCATION.
    10. "Usherin, the defective protein in Usher syndrome type IIA, is likely to be a component of interstereocilia ankle links in the inner ear sensory cells."
      Adato A., Lefevre G., Delprat B., Michel V., Michalski N., Chardenoux S., Weil D., El-Amraoui A., Petit C.
      Hum. Mol. Genet. 14:3921-3932(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH USH2A.
    11. "Whirlin complexes with p55 at the stereocilia tip during hair cell development."
      Mburu P., Kikkawa Y., Townsend S., Romero R., Yonekawa H., Brown S.D.
      Proc. Natl. Acad. Sci. U.S.A. 103:10973-10978(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH MPP1.
    12. "The deaf mouse mutant whirler suggests a role for whirlin in actin filament dynamics and stereocilia development."
      Mogensen M.M., Rzadzinska A., Steel K.P.
      Cell Motil. Cytoskeleton 64:496-508(2007) [PubMed] [Europe PMC] [Abstract]
      Cited for: DISEASE.
    13. Cited for: INTERACTION WITH MPP1, SUBCELLULAR LOCATION.
    14. "Regulation of stereocilia length by myosin XVa and whirlin depends on the actin-regulatory protein Eps8."
      Manor U., Disanza A., Grati M., Andrade L., Lin H., Di Fiore P.P., Scita G., Kachar B.
      Curr. Biol. 21:167-172(2011) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH EPS8.

    Entry informationi

    Entry nameiWHRN_MOUSE
    AccessioniPrimary (citable) accession number: Q80VW5
    Secondary accession number(s): A2AGD2
    , I6MML6, I6MML7, Q3TZC8, Q5MLF1, Q5MLF2, Q5MLF3, Q5MLF4, Q5MLF5, Q5MLF6, Q5MLF7, Q5MLF8, Q5MLF9, Q80TC2, Q80VW4
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: December 7, 2004
    Last sequence update: December 4, 2007
    Last modified: October 1, 2014
    This is version 92 of the entry and version 3 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. MGD cross-references
      Mouse Genome Database (MGD) cross-references in UniProtKB/Swiss-Prot
    2. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3