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Index > Protein center > WHRN(Gene name) > Human
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  • WHRN (Gene name),
  • Whirlin (Protein name ),  WHRN_HUMAN from NCBI database.
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  • General Annotation
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  • Antigen Annotation
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  • Predicted Eptitope
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  • Vaild Sequence
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  • Gene name:
    WHRN(DFNB31;KIAA1526);
    Protein name:
    Whirlin;
    Alternative:
    Autosomal recessive deafness type 31 protein;
    Organism:
    Human (Homo sapiens). 
    General Annotation
    Sub Unit:
    Forms homooligomers. Binds CASK, MPP1/p55 and MYO15A via the C-terminal PDZ domain. Binding to MYO15A is necessary for localization of WHRN to stereocilia tips. Interacts with USH2A, GPR98/MASS1 and LRRC4C/NGL1.
    Function:
    Necessary for elongation and maintenance of inner and outer hair cell stereocilia in the organ of Corti in the inner ear.
    Subcellular Location:
    Cytoplasm Cell projection stereocilium Cell projection growth cone Detected at the level of stereocilia in inner outer hair cells of the cochlea and vestibule. Co-localizes 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.
    Protein Attributes:
    Sequence length:
    907
    Sequence:
    50:
    MNAPLDGLSV | SSSSTGSLGS | AAGAGGGGGA | GLRLLSANVR | QLHQALTALL | 
    100:
    SEAEREQFTH | CLNAYHARRN | VFDLVRTLRV | LLDSPVKRRL | LPMLRLVIPR | 
    150:
    SDQLLFDQYT | AEGLYLPATT | PYRQPAWGGP | DSAGPGEVRL | VSLRRAKAHE | 
    200:
    GLGFSIRGGS | EHGVGIYVSL | VEPGSLAEKE | GLRVGDQILR | VNDKSLARVT | 
    250:
    HAEAVKALKG | SKKLVLSVYS | AGRIPGGYVT | NHIYTWVDPQ | GRSISPPSGL | 
    300:
    PQPHGGALRQ | QEGDRRSTLH | LLQGGDEKKV | NLVLGDGRSL | GLTIRGGAEY | 
    350:
    GLGIYITGVD | PGSEAEGSGL | KVGDQILEVN | GRSFLNILHD | EAVRLLKSSR | 
    400:
    HLILTVKDVG | RLPRARTTVD | ETKWIASSRI | RETMANSAGF | LGDLTTEGIN | 
    450:
    KPGFYKGPAG | SQVTLSSLGN | QTRVLLEEQA | RHLLNEQEHA | TMAYYLDEYR | 
    500:
    GGSVSVEALV | MALFKLLNTH | AKFSLLSEVR | GTISPQDLER | FDHLVLRREI | 
    550:
    ESMKARQPPG | PGAGDTYSMV | SYSDTGSSTG | SHGTSTTVSS | ARNTLDLEET | 
    600:
    GEAVQGNINA | LPDVSVDDVR | STSQGLSSFK | PLPRPPPLAQ | GNDLPLGQPR | 
    650:
    KLGREDLQPP | SSMPSCSGTV | FSAPQNRSPP | AGTAPTPGTS | SAQDLPSSPI | 
    700:
    YASVSPANPS | SKRPLDAHLA | LVNQHPIGPF | PRVQSPPHLK | SPSAEATVAG | 
    750:
    GCLLPPSPSG | HPDQTGTNQH | FVMVEVHRPD | SEPDVNEVRA | LPQTRTASTL | 
    800:
    SHLSDSGQTL | SEDSGVDAGE | AEASAPGRGR | QSVSTKSRSS | KELPRNERPT | 
    850:
    DGANKPPGLL | EPTSTLVRVK | KSAATLGIAI | EGGANTRQPL | PRIVTIQRGG | 
    900:
    SAHNCGQLKV | GHVILEVNGL | TLRGKEHREA | ARIIAEAFKT | KDRDYIDFLV | 
    907:
    TEFNVML
    3D Structure:
    N/A
    Predicted Eptitope:
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    EIAab Sequence  Vaild Sequence:
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    Related Databases
    SMR:
    UniGene:
    MIM:
    String:
    KEGG:
    Pfam:
    Uniprot:
     
    FOR
    ELISA Kit for Human Whirlin
    ELISA Kit for Human Whirlin
    ELISA Kit for Human Whirlin
    CLIA Kit for Human Whirlin
    CLIA Kit for Human Whirlin
    CLIA Kit for Human Whirlin
    Polyclonal Antibody for Human Whirlin
    Polyclonal Antibody for Human Whirlin
    Polyclonal Antibody for Human Whirlin
    Monoclonal Antibody for Human Whirlin
    Monoclonal Antibody for Human Whirlin
    Monoclonal Antibody for Human Whirlin
    Protein for Human Whirlin
    Protein for Human Whirlin
    Protein for Human Whirlin

    R&D Technical Data
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    Precision
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    Recovery
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    Linearity
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    References
    1. 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]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1);VARIANTS HIS-364 AND GLN-752
      tissue: Brain.
    2. 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. , more...
      Nat. Genet.36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 2 AND 4);VARIANTS THR-613; GLN-752 AND ALA-783
    3. 3.
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3);VARIANT GLN-752
      tissue: Testis.
    4. 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. , more...
      Nature429:369-374(2004) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]
    5. 5.
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA];VARIANTS HIS-364 AND GLN-752
    6. 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]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1);VARIANTS HIS-364; THR-613; GLN-752 AND ALA-783
    7. 7.
      "DFNB31, a recessive form of sensorineural hearing loss, maps to chromosome 9q32-34."
      Mustapha M. , Chouery E. , Chardenoux S. , Naboulsi M. , Paronnaud J. , Lemainque A. , Megarbane A. , Loiselet J. , Weil D. , Lathrop M. , Petit C.
      Eur. J. Hum. Genet.10:210-212(2002) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: INVOLVEMENT IN DFNB31
    8. 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. , more...
      Nat. Genet.34:421-428(2003) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: INVOLVEMENT IN DFNB31;ALTERNATIVE SPLICING
    9. 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]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: INVOLVEMENT IN DFNB31
    10. 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]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: INTERACTION WITH USH2A AND GPR98/MASS1
    11. 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]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: INVOLVEMENT IN USH2
    12. 12.
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: INTERACTION WITH MPP1;SUBCELLULAR LOCATION
    13. 13.
      "Solution structure of PDZ domains of human KIAA1526 protein."
      RIKEN structural genomics initiative (RSGI)
      Submitted (2003-12) to the PDB data bank
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: STRUCTURE BY NMR OF 136-378 AND 815-904
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