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Q80VW5

- WHRN_MOUSE

UniProt

Q80VW5 - WHRN_MOUSE

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Protein
Whirlin
Gene
Dfnb31, Kiaa1526, Whrn
Organism
Mus musculus (Mouse)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

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
Complete GO annotation...

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
Complete GO annotation...

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).4 Publications

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
Complete GO annotation...

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 – 918918Whirlin
PRO_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.

Family & Domainsi

Domains and Repeats

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

Compositional bias

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

Sequence similaritiesi

Contains 3 PDZ (DHR) domains.

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

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 552552Missing in isoform 9.
VSP_029934Add
BLAST
Alternative sequencei1 – 503503Missing in isoform 8.
VSP_029935Add
BLAST
Alternative sequencei1 – 442442Missing in isoform 6 and isoform 7.
VSP_029936Add
BLAST
Alternative sequencei1 – 357357Missing in isoform 5.
VSP_029937Add
BLAST
Alternative sequencei323 – 918596Missing in isoform 12.
VSP_045293Add
BLAST
Alternative sequencei358 – 40245KDVGR…EGTSK → MTTWCHRPRVRWSGSCVCGD HQHNARSHSLPRSLDSSGLC PSVFQ in isoform 5.
VSP_029938Add
BLAST
Alternative sequencei390 – 3901G → GSGLR in isoform 2.
VSP_029939
Alternative sequencei544 – 57128ERLLW…QGSTN → VSHPCPILGEKVRARIRCFP PKPRVPHL in isoform 10.
VSP_029940Add
BLAST
Alternative sequencei544 – 55411Missing in isoform 2, isoform 3, isoform 4, isoform 5, isoform 7 and isoform 8.
VSP_029941Add
BLAST
Alternative sequencei555 – 56612NTLDL…TGETT → VPSFCRGRLGVP in isoform 11.
VSP_045294Add
BLAST
Alternative sequencei567 – 918352Missing in isoform 11.
VSP_045295Add
BLAST
Alternative sequencei572 – 918347Missing in isoform 10.
VSP_029942Add
BLAST
Alternative sequencei758 – 7581Missing in isoform 4.
VSP_029943

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti504 – 5041M → V in BAE34281. 1 Publication

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...

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

« Hide 'large scale' publications
  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: July 9, 2014
This is version 91 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

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