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Q9P202

- WHRN_HUMAN

UniProt

Q9P202 - WHRN_HUMAN

Protein

Whirlin

Gene

DFNB31

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 127 (01 Oct 2014)
      Sequence version 3 (18 May 2010)
      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.By similarity

    GO - Molecular functioni

    1. protein binding Source: UniProtKB

    GO - Biological processi

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

    Keywords - Biological processi

    Hearing

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Whirlin
    Alternative name(s):
    Autosomal recessive deafness type 31 protein
    Gene namesi
    Name:DFNB31
    Synonyms:KIAA1526, WHRN
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 9

    Organism-specific databases

    HGNCiHGNC:16361. DFNB31.

    Subcellular locationi

    Cytoplasm By similarity. Cell projectionstereocilium By similarity. Cell projectiongrowth cone By similarity
    Note: Detected at the level of stereocilia in inner outer hair cells of the cochlea and vestibule. Colocalizes with the growing ends of actin filaments By similarity. Colocalizes with MPP1 in the retina, at the outer limiting membrane (OLM), outer plexifirm layer (OPL), basal bodies and at the connecting cilium (CC).By similarity1 Publication

    GO - Cellular componenti

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

    Keywords - Cellular componenti

    Cell projection, Cytoplasm

    Pathology & Biotechi

    Involvement in diseasei

    Deafness, autosomal recessive, 31 (DFNB31) [MIM:607084]: A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information.3 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Usher syndrome 2D (USH2D) [MIM:611383]: USH is a genetically heterogeneous condition characterized by the association of retinitis pigmentosa and sensorineural deafness. Age at onset and differences in auditory and vestibular function distinguish Usher syndrome type 1 (USH1), Usher syndrome type 2 (USH2) and Usher syndrome type 3 (USH3). USH2 is characterized by congenital mild hearing impairment with normal vestibular responses.
    Note: The disease is caused by mutations affecting the gene represented in this entry.

    Keywords - Diseasei

    Deafness, Non-syndromic deafness, Usher syndrome

    Organism-specific databases

    MIMi607084. phenotype.
    611383. phenotype.
    Orphaneti90636. Autosomal recessive nonsyndromic sensorineural deafness type DFNB.
    231178. Usher syndrome type 2.
    PharmGKBiPA27297.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 907907WhirlinPRO_0000065968Add
    BLAST

    Proteomic databases

    PaxDbiQ9P202.
    PRIDEiQ9P202.

    PTM databases

    PhosphoSiteiQ9P202.

    Expressioni

    Gene expression databases

    BgeeiQ9P202.
    CleanExiHS_DFNB31.
    GenevestigatoriQ9P202.

    Organism-specific databases

    HPAiCAB033194.
    HPA002386.
    HPA002480.

    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 EPS8.2 Publications

    Protein-protein interaction databases

    BioGridi117381. 1 interaction.
    IntActiQ9P202. 4 interactions.
    MINTiMINT-3056156.
    STRINGi9606.ENSP00000354623.

    Structurei

    Secondary structure

    1
    907
    Legend: HelixTurnBeta strand
    Show more details
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Beta strandi139 – 1413
    Beta strandi152 – 1587
    Turni160 – 1634
    Beta strandi166 – 1716
    Helixi176 – 1805
    Beta strandi188 – 1914
    Helixi201 – 2077
    Beta strandi208 – 2136
    Beta strandi216 – 2183
    Turni263 – 2653
    Beta strandi275 – 2839
    Beta strandi292 – 2954
    Turni298 – 3014
    Beta strandi305 – 3095
    Helixi314 – 3185
    Beta strandi325 – 3295
    Helixi339 – 3468
    Beta strandi350 – 3578
    Beta strandi815 – 8206
    Beta strandi823 – 8253
    Beta strandi828 – 8314
    Beta strandi842 – 8465
    Helixi851 – 8555
    Helixi877 – 88913
    Beta strandi894 – 9007

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    EntryMethodResolution (Å)ChainPositionsPDBsum
    1UEZNMR-A137-224[»]
    1UF1NMR-A263-378[»]
    1UFXNMR-A815-904[»]
    ProteinModelPortaliQ9P202.
    SMRiQ9P202. Positions 7-378, 813-904.
    ModBaseiSearch...
    MobiDBiSearch...

    Miscellaneous databases

    EvolutionaryTraceiQ9P202.

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini140 – 22384PDZ 1PROSITE-ProRule annotationAdd
    BLAST
    Domaini279 – 36183PDZ 2PROSITE-ProRule annotationAdd
    BLAST
    Domaini816 – 89984PDZ 3PROSITE-ProRule annotationAdd
    BLAST

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi9 – 3123Ala/Gly/Ser-richAdd
    BLAST
    Compositional biasi581 – 712132Pro-richAdd
    BLAST

    Sequence similaritiesi

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

    Keywords - Domaini

    Repeat

    Phylogenomic databases

    eggNOGiNOG291372.
    HOVERGENiHBG056634.
    InParanoidiQ9P202.
    OMAiAPQNRSP.
    OrthoDBiEOG7J9VQG.
    PhylomeDBiQ9P202.
    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 (4)i

    Sequence statusi: Complete.

    This entry describes 4 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q9P202-1) [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

    MNAPLDGLSV SSSSTGSLGS AAGAGGGGGA GLRLLSANVR QLHQALTALL    50
    SEAEREQFTH CLNAYHARRN VFDLVRTLRV LLDSPVKRRL LPMLRLVIPR 100
    SDQLLFDQYT AEGLYLPATT PYRQPAWGGP DSAGPGEVRL VSLRRAKAHE 150
    GLGFSIRGGS EHGVGIYVSL VEPGSLAEKE GLRVGDQILR VNDKSLARVT 200
    HAEAVKALKG SKKLVLSVYS AGRIPGGYVT NHIYTWVDPQ GRSISPPSGL 250
    PQPHGGALRQ QEGDRRSTLH LLQGGDEKKV NLVLGDGRSL GLTIRGGAEY 300
    GLGIYITGVD PGSEAEGSGL KVGDQILEVN GRSFLNILHD EAVRLLKSSR 350
    HLILTVKDVG RLPRARTTVD ETKWIASSRI RETMANSAGF LGDLTTEGIN 400
    KPGFYKGPAG SQVTLSSLGN QTRVLLEEQA RHLLNEQEHA TMAYYLDEYR 450
    GGSVSVEALV MALFKLLNTH AKFSLLSEVR GTISPQDLER FDHLVLRREI 500
    ESMKARQPPG PGAGDTYSMV SYSDTGSSTG SHGTSTTVSS ARNTLDLEET 550
    GEAVQGNINA LPDVSVDDVR STSQGLSSFK PLPRPPPLAQ GNDLPLGQPR 600
    KLGREDLQPP SSMPSCSGTV FSAPQNRSPP AGTAPTPGTS SAQDLPSSPI 650
    YASVSPANPS SKRPLDAHLA LVNQHPIGPF PRVQSPPHLK SPSAEATVAG 700
    GCLLPPSPSG HPDQTGTNQH FVMVEVHRPD SEPDVNEVRA LPQTRTASTL 750
    SHLSDSGQTL SEDSGVDAGE AEASAPGRGR QSVSTKSRSS KELPRNERPT 800
    DGANKPPGLL EPTSTLVRVK KSAATLGIAI EGGANTRQPL PRIVTIQRGG 850
    SAHNCGQLKV GHVILEVNGL TLRGKEHREA ARIIAEAFKT KDRDYIDFLV 900
    TEFNVML 907
    Length:907
    Mass (Da):96,586
    Last modified:May 18, 2010 - v3
    Checksum:iD4E5982606E68A04
    GO
    Isoform 2 (identifier: Q9P202-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         281-345: NLVLGDGRSL...NILHDEAVRL → SGVGKGGQPL...DLCSVCYNTG
         346-907: Missing.

    Note: May be due to an intron retention.

    Show »
    Length:345
    Mass (Da):37,110
    Checksum:i389719C312FA0D37
    GO
    Isoform 3 (identifier: Q9P202-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-383: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:524
    Mass (Da):55,581
    Checksum:i699AD98C80D3E625
    GO
    Isoform 4 (identifier: Q9P202-4) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-351: Missing.
         352-389: LILTVKDVGR...IRETMANSAG → MHGSLEALLF...QLEMCVFPHR

    Show »
    Length:556
    Mass (Da):59,260
    Checksum:iE462067F57ADED36
    GO

    Sequence cautioni

    The sequence BAA96050.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti225 – 2251P → S in AK056190. (PubMed:14702039)Curated
    Sequence conflicti716 – 7161G → V in BAB14275. (PubMed:14702039)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti364 – 3641R → H.3 Publications
    Corresponds to variant rs10817610 [ dbSNP | Ensembl ].
    VAR_036684
    Natural varianti423 – 4231R → P.
    Corresponds to variant rs35003670 [ dbSNP | Ensembl ].
    VAR_036685
    Natural varianti440 – 4401A → T.
    Corresponds to variant rs4978584 [ dbSNP | Ensembl ].
    VAR_020593
    Natural varianti443 – 4431A → S.
    Corresponds to variant rs11539662 [ dbSNP | Ensembl ].
    VAR_057029
    Natural varianti562 – 5621P → A.
    Corresponds to variant rs12339210 [ dbSNP | Ensembl ].
    VAR_036686
    Natural varianti613 – 6131M → T.2 Publications
    Corresponds to variant rs942519 [ dbSNP | Ensembl ].
    VAR_036687
    Natural varianti752 – 7521H → Q.5 Publications
    Corresponds to variant rs6478078 [ dbSNP | Ensembl ].
    VAR_036688
    Natural varianti783 – 7831V → A.2 Publications
    Corresponds to variant rs2274159 [ dbSNP | Ensembl ].
    VAR_020594
    Natural varianti796 – 7961N → K.
    Corresponds to variant rs2274158 [ dbSNP | Ensembl ].
    VAR_020595
    Natural varianti813 – 8131T → M.
    Corresponds to variant rs942519 [ dbSNP | Ensembl ].
    VAR_020596

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 383383Missing in isoform 3. 1 PublicationVSP_012216Add
    BLAST
    Alternative sequencei1 – 351351Missing in isoform 4. 1 PublicationVSP_012217Add
    BLAST
    Alternative sequencei281 – 34565NLVLG…EAVRL → SGVGKGGQPLRHRILPPNPE QQSCLEAARRGWFCPGSVFP QVCTEGWCFFFAFLFDLCSV CYNTG in isoform 2. 1 PublicationVSP_012218Add
    BLAST
    Alternative sequencei346 – 907562Missing in isoform 2. 1 PublicationVSP_012219Add
    BLAST
    Alternative sequencei352 – 38938LILTV…ANSAG → MHGSLEALLFLPQVTLSLAH AHLICSNAQLEMCVFPHR in isoform 4. 1 PublicationVSP_012220Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AB040959 mRNA. Translation: BAA96050.1. Different initiation.
    AK022854 mRNA. Translation: BAB14275.1.
    AK056190 mRNA. No translation available.
    AL110228 mRNA. Translation: CAB53685.2.
    AL138895 Genomic DNA. Translation: CAI17244.1.
    AL138895 Genomic DNA. Translation: CAI17245.1.
    AL138895 Genomic DNA. Translation: CAI17246.1.
    AL138895 Genomic DNA. Translation: CAI17247.1.
    CH471090 Genomic DNA. Translation: EAW87422.1.
    CH471090 Genomic DNA. Translation: EAW87423.1.
    BC142614 mRNA. Translation: AAI42615.1.
    BC142684 mRNA. Translation: AAI42685.1.
    CCDSiCCDS43870.1. [Q9P202-3]
    CCDS6806.1. [Q9P202-1]
    PIRiT14765.
    RefSeqiNP_001077354.2. NM_001083885.2.
    NP_001166896.1. NM_001173425.1.
    NP_056219.3. NM_015404.3.
    XP_005251952.2. XM_005251895.2.
    UniGeneiHs.93836.

    Genome annotation databases

    EnsembliENST00000265134; ENSP00000265134; ENSG00000095397. [Q9P202-3]
    ENST00000362057; ENSP00000354623; ENSG00000095397. [Q9P202-1]
    ENST00000374057; ENSP00000363170; ENSG00000095397. [Q9P202-2]
    ENST00000374059; ENSP00000363172; ENSG00000095397. [Q9P202-4]
    GeneIDi25861.
    KEGGihsa:25861.
    UCSCiuc004bix.3. human. [Q9P202-4]
    uc004biy.4. human. [Q9P202-1]
    uc004bjb.3. human. [Q9P202-2]

    Polymorphism databases

    DMDMi296453079.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Web resourcesi

    Hereditary hearing loss homepage

    Gene page

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AB040959 mRNA. Translation: BAA96050.1 . Different initiation.
    AK022854 mRNA. Translation: BAB14275.1 .
    AK056190 mRNA. No translation available.
    AL110228 mRNA. Translation: CAB53685.2 .
    AL138895 Genomic DNA. Translation: CAI17244.1 .
    AL138895 Genomic DNA. Translation: CAI17245.1 .
    AL138895 Genomic DNA. Translation: CAI17246.1 .
    AL138895 Genomic DNA. Translation: CAI17247.1 .
    CH471090 Genomic DNA. Translation: EAW87422.1 .
    CH471090 Genomic DNA. Translation: EAW87423.1 .
    BC142614 mRNA. Translation: AAI42615.1 .
    BC142684 mRNA. Translation: AAI42685.1 .
    CCDSi CCDS43870.1. [Q9P202-3 ]
    CCDS6806.1. [Q9P202-1 ]
    PIRi T14765.
    RefSeqi NP_001077354.2. NM_001083885.2.
    NP_001166896.1. NM_001173425.1.
    NP_056219.3. NM_015404.3.
    XP_005251952.2. XM_005251895.2.
    UniGenei Hs.93836.

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    Entry Method Resolution (Å) Chain Positions PDBsum
    1UEZ NMR - A 137-224 [» ]
    1UF1 NMR - A 263-378 [» ]
    1UFX NMR - A 815-904 [» ]
    ProteinModelPortali Q9P202.
    SMRi Q9P202. Positions 7-378, 813-904.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 117381. 1 interaction.
    IntActi Q9P202. 4 interactions.
    MINTi MINT-3056156.
    STRINGi 9606.ENSP00000354623.

    PTM databases

    PhosphoSitei Q9P202.

    Polymorphism databases

    DMDMi 296453079.

    Proteomic databases

    PaxDbi Q9P202.
    PRIDEi Q9P202.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000265134 ; ENSP00000265134 ; ENSG00000095397 . [Q9P202-3 ]
    ENST00000362057 ; ENSP00000354623 ; ENSG00000095397 . [Q9P202-1 ]
    ENST00000374057 ; ENSP00000363170 ; ENSG00000095397 . [Q9P202-2 ]
    ENST00000374059 ; ENSP00000363172 ; ENSG00000095397 . [Q9P202-4 ]
    GeneIDi 25861.
    KEGGi hsa:25861.
    UCSCi uc004bix.3. human. [Q9P202-4 ]
    uc004biy.4. human. [Q9P202-1 ]
    uc004bjb.3. human. [Q9P202-2 ]

    Organism-specific databases

    CTDi 25861.
    GeneCardsi GC09M117164.
    GeneReviewsi DFNB31.
    HGNCi HGNC:16361. DFNB31.
    HPAi CAB033194.
    HPA002386.
    HPA002480.
    MIMi 607084. phenotype.
    607928. gene.
    611383. phenotype.
    neXtProti NX_Q9P202.
    Orphaneti 90636. Autosomal recessive nonsyndromic sensorineural deafness type DFNB.
    231178. Usher syndrome type 2.
    PharmGKBi PA27297.
    HUGEi Search...
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG291372.
    HOVERGENi HBG056634.
    InParanoidi Q9P202.
    OMAi APQNRSP.
    OrthoDBi EOG7J9VQG.
    PhylomeDBi Q9P202.
    TreeFami TF325033.

    Miscellaneous databases

    EvolutionaryTracei Q9P202.
    GeneWikii DFNB31.
    GenomeRNAii 25861.
    NextBioi 47225.
    PROi Q9P202.
    SOURCEi Search...

    Gene expression databases

    Bgeei Q9P202.
    CleanExi HS_DFNB31.
    Genevestigatori Q9P202.

    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. "Prediction of the coding sequences of unidentified human genes. XVII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro."
      Nagase T., Kikuno R., Ishikawa K., Hirosawa M., Ohara O.
      DNA Res. 7:143-150(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANTS HIS-364 AND GLN-752.
      Tissue: Brain.
    2. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
      Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
      , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
      Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 2 AND 4), VARIANTS THR-613; GLN-752 AND ALA-783.
    3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3), VARIANT GLN-752.
      Tissue: Testis.
    4. "DNA sequence and analysis of human chromosome 9."
      Humphray S.J., Oliver K., Hunt A.R., Plumb R.W., Loveland J.E., Howe K.L., Andrews T.D., Searle S., Hunt S.E., Scott C.E., Jones M.C., Ainscough R., Almeida J.P., Ambrose K.D., Ashwell R.I.S., Babbage A.K., Babbage S., Bagguley C.L.
      , Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beasley H., Beasley O., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y., Burford D., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Chen Y., Clarke G., Clark S.Y., Clee C.M., Clegg S., Collier R.E., Corby N., Crosier M., Cummings A.T., Davies J., Dhami P., Dunn M., Dutta I., Dyer L.W., Earthrowl M.E., Faulkner L., Fleming C.J., Frankish A., Frankland J.A., French L., Fricker D.G., Garner P., Garnett J., Ghori J., Gilbert J.G.R., Glison C., Grafham D.V., Gribble S., Griffiths C., Griffiths-Jones S., Grocock R., Guy J., Hall R.E., Hammond S., Harley J.L., Harrison E.S.I., Hart E.A., Heath P.D., Henderson C.D., Hopkins B.L., Howard P.J., Howden P.J., Huckle E., Johnson C., Johnson D., Joy A.A., Kay M., Keenan S., Kershaw J.K., Kimberley A.M., King A., Knights A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C., Lloyd D.M., Lovell J., Martin S., Mashreghi-Mohammadi M., Matthews L., McLaren S., McLay K.E., McMurray A., Milne S., Nickerson T., Nisbett J., Nordsiek G., Pearce A.V., Peck A.I., Porter K.M., Pandian R., Pelan S., Phillimore B., Povey S., Ramsey Y., Rand V., Scharfe M., Sehra H.K., Shownkeen R., Sims S.K., Skuce C.D., Smith M., Steward C.A., Swarbreck D., Sycamore N., Tester J., Thorpe A., Tracey A., Tromans A., Thomas D.W., Wall M., Wallis J.M., West A.P., Whitehead S.L., Willey D.L., Williams S.A., Wilming L., Wray P.W., Young L., Ashurst J.L., Coulson A., Blocker H., Durbin R.M., Sulston J.E., Hubbard T., Jackson M.J., Bentley D.R., Beck S., Rogers J., Dunham I.
      Nature 429:369-374(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    5. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], VARIANTS HIS-364 AND GLN-752.
    6. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANTS HIS-364; THR-613; GLN-752 AND ALA-783.
    7. Cited for: INVOLVEMENT IN DFNB31.
    8. "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: INVOLVEMENT IN DFNB31, ALTERNATIVE SPLICING.
    9. "Identification of a novel frameshift mutation in the DFNB31/WHRN gene in a Tunisian consanguineous family with hereditary non-syndromic recessive hearing loss."
      Tlili A., Charfedine I., Lahmar I., Benzina Z., Mohamed B.A., Weil D., Idriss N., Drira M., Masmoudi S., Ayadi H.
      Hum. Mutat. 25:503-503(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: INVOLVEMENT IN DFNB31.
    10. "The DFNB31 gene product whirlin connects to the Usher protein network in the cochlea and retina by direct association with USH2A and VLGR1."
      van Wijk E., van der Zwaag B., Peters T., Zimmermann U., Te Brinke H., Kersten F.F.J., Maerker T., Aller E., Hoefsloot L.H., Cremers C.W.R.J., Cremers F.P.M., Wolfrum U., Knipper M., Roepman R., Kremer H.
      Hum. Mol. Genet. 15:751-765(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH USH2A AND GPR98/MASS1.
    11. "A novel gene for Usher syndrome type 2: mutations in the long isoform of whirlin are associated with retinitis pigmentosa and sensorineural hearing loss."
      Ebermann I., Scholl H.P.N., Charbel Issa P., Becirovic E., Lamprecht J., Jurklies B., Millan J.M., Aller E., Mitter D., Bolz H.
      Hum. Genet. 121:203-211(2007) [PubMed] [Europe PMC] [Abstract]
      Cited for: INVOLVEMENT IN USH2.
    12. Cited for: INTERACTION WITH MPP1, SUBCELLULAR LOCATION.
    13. "Solution structure of PDZ domains of human KIAA1526 protein."
      RIKEN structural genomics initiative (RSGI)
      Submitted (DEC-2003) to the PDB data bank
      Cited for: STRUCTURE BY NMR OF 136-378 AND 815-904.

    Entry informationi

    Entry nameiWHRN_HUMAN
    AccessioniPrimary (citable) accession number: Q9P202
    Secondary accession number(s): A5PKU1
    , A5PKZ9, Q5TAU9, Q5TAV0, Q5TAV1, Q5TAV2, Q96MZ9, Q9H9F4, Q9UFZ3
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: December 7, 2004
    Last sequence update: May 18, 2010
    Last modified: October 1, 2014
    This is version 127 of the entry and version 3 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

    Miscellaneousi

    Keywords - Technical termi

    3D-structure, Complete proteome, Reference proteome

    Documents

    1. Human chromosome 9
      Human chromosome 9: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. PDB cross-references
      Index of Protein Data Bank (PDB) cross-references
    6. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3