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:
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 |
Vaild Sequence:
Related Databases
Uniprot:
ELISA Kit
CLIA Kit
Polyclonal Antibody
Monoclonal Antibody
Protein
FOR
Human
Mouse
Rat
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
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
Precision
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
Recovery
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
Linearity
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
References
1.
[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.
"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.
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.
"The full-ORF clone resource of the German cDNA consortium."
Bechtel S.
,
Rosenfelder H.
,
Duda A.
,
Schmidt C.P.
,
Ernst U.
,
Wellenreuther R.
,
Mehrle A.
,
Schuster C.
,
Bahr A.
,
Bloecker H.
,
Heubner D.
,
Hoerlein A.
,
Michel G.
,
Wedler H.
,
Koehrer K.
,
Ottenwaelder B.
,
Poustka A.
,
Wiemann S.
,
Schupp I.
more...
BMC Genomics8:399-399(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 : 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.
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.
Mural R.J.
,
Istrail S.
,
Sutton G.G.
,
Florea L.
,
Halpern A.L.
,
Mobarry C.M.
,
Lippert R.
,
Walenz B.
,
Shatkay H.
,
Dew I.
,
Miller J.R.
,
Flanigan M.J.
,
Edwards N.J.
,
Bolanos R.
,
Fasulo D.
,
Halldorsson B.V.
,
Hannenhalli S.
,
Turner R.
,
Yooseph S.
,
Lu F.
,
Nusskern D.R.
,
Shue B.C.
,
Zheng X.H.
,
Zhong F.
,
Delcher A.L.
,
Huson D.H.
,
Kravitz S.A.
,
Mouchard L.
,
Reinert K.
,
Remington K.A.
,
Clark A.G.
,
Waterman M.S.
,
Eichler E.E.
,
Adams M.D.
,
Hunkapiller M.W.
,
Myers E.W.
,
Venter J.C.
more...
Submitted (2005-07) to the EMBL/GenBank/DDBJ databases
[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.
[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.
"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.
"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.
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.
[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.
"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.
[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.
"MPP1 links the Usher protein network and the Crumbs protein complex in the retina."
Gosens I.
,
van Wijk E.
,
Kersten F.F.
,
Krieger E.
,
van der Zwaag B.
,
Maerker T.
,
Letteboer S.J.
,
Dusseljee S.
,
Peters T.
,
Spierenburg H.A.
,
Punte I.M.
,
Wolfrum U.
,
Cremers F.P.M.
,
Kremer H.
,
Roepman R.
Hum. Mol. Genet.16:1993-2003(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 : INTERACTION WITH MPP1;SUBCELLULAR LOCATION
13.
[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