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Whirlin (Autosomal recessive deafness type 31 protein)

 WHRN_HUMAN              Reviewed;         907 AA.
Q9P202; A0A0C4DFT9; A5PKU1; A5PKZ9; Q5TAU9; Q5TAV0; Q5TAV1; Q5TAV2;
Q96MZ9; Q9H9F4; Q9UFZ3;
07-DEC-2004, integrated into UniProtKB/Swiss-Prot.
28-MAR-2018, sequence version 4.
12-SEP-2018, entry version 160.
RecName: Full=Whirlin {ECO:0000305};
AltName: Full=Autosomal recessive deafness type 31 protein {ECO:0000305};
Name=WHRN {ECO:0000312|HGNC:HGNC:16361};
Synonyms=DFNB31 {ECO:0000303|PubMed:11973626}, KIAA1526;
Homo sapiens (Human).
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
NCBI_TaxID=9606;
[1]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
TISSUE=Brain;
PubMed=10819331; DOI=10.1093/dnares/7.2.143;
Nagase T., Kikuno R., Ishikawa K., Hirosawa M., Ohara O.;
"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.";
DNA Res. 7:143-150(2000).
[2]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 2 AND 4), AND
VARIANTS THR-613 AND ALA-783.
PubMed=14702039; DOI=10.1038/ng1285;
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.;
"Complete sequencing and characterization of 21,243 full-length human
cDNAs.";
Nat. Genet. 36:40-45(2004).
[3]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
TISSUE=Testis;
PubMed=17974005; DOI=10.1186/1471-2164-8-399;
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.;
"The full-ORF clone resource of the German cDNA consortium.";
BMC Genomics 8:399-399(2007).
[4]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
PubMed=15164053; DOI=10.1038/nature02465;
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.;
"DNA sequence and analysis of human chromosome 9.";
Nature 429:369-374(2004).
[5]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
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.;
Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases.
[6]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), AND VARIANTS
THR-613 AND ALA-783.
PubMed=15489334; DOI=10.1101/gr.2596504;
The MGC Project Team;
"The status, quality, and expansion of the NIH full-length cDNA
project: the Mammalian Gene Collection (MGC).";
Genome Res. 14:2121-2127(2004).
[7]
INVOLVEMENT IN DFNB31.
PubMed=11973626; DOI=10.1038/sj.ejhg.5200780;
Mustapha M., Chouery E., Chardenoux S., Naboulsi M., Paronnaud J.,
Lemainque A., Megarbane A., Loiselet J., Weil D., Lathrop M.,
Petit C.;
"DFNB31, a recessive form of sensorineural hearing loss, maps to
chromosome 9q32-34.";
Eur. J. Hum. Genet. 10:210-212(2002).
[8]
INVOLVEMENT IN DFNB31, AND ALTERNATIVE SPLICING.
PubMed=12833159; DOI=10.1038/ng1208;
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.;
"Defects in whirlin, a PDZ domain molecule involved in stereocilia
elongation, cause deafness in the whirler mouse and families with
DFNB31.";
Nat. Genet. 34:421-428(2003).
[9]
INVOLVEMENT IN DFNB31.
PubMed=15841483; DOI=10.1002/humu.9333;
Tlili A., Charfedine I., Lahmar I., Benzina Z., Mohamed B.A., Weil D.,
Idriss N., Drira M., Masmoudi S., Ayadi H.;
"Identification of a novel frameshift mutation in the DFNB31/WHRN gene
in a Tunisian consanguineous family with hereditary non-syndromic
recessive hearing loss.";
Hum. Mutat. 25:503-503(2005).
[10]
INTERACTION WITH USH2A AND GPR98/MASS1.
PubMed=16434480; DOI=10.1093/hmg/ddi490;
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.;
"The DFNB31 gene product whirlin connects to the Usher protein network
in the cochlea and retina by direct association with USH2A and
VLGR1.";
Hum. Mol. Genet. 15:751-765(2006).
[11]
INVOLVEMENT IN USH2D.
PubMed=17171570; DOI=10.1007/s00439-006-0304-0;
Ebermann I., Scholl H.P.N., Charbel Issa P., Becirovic E.,
Lamprecht J., Jurklies B., Millan J.M., Aller E., Mitter D., Bolz H.;
"A novel gene for Usher syndrome type 2: mutations in the long isoform
of whirlin are associated with retinitis pigmentosa and sensorineural
hearing loss.";
Hum. Genet. 121:203-211(2007).
[12]
INTERACTION WITH MPP1, AND SUBCELLULAR LOCATION.
PubMed=17584769; DOI=10.1093/hmg/ddm147;
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.;
"MPP1 links the Usher protein network and the Crumbs protein complex
in the retina.";
Hum. Mol. Genet. 16:1993-2003(2007).
[13]
INTERACTION WITH CIB2.
PubMed=23023331; DOI=10.1038/ng.2426;
Riazuddin S., Belyantseva I.A., Giese A.P., Lee K., Indzhykulian A.A.,
Nandamuri S.P., Yousaf R., Sinha G.P., Lee S., Terrell D., Hegde R.S.,
Ali R.A., Anwar S., Andrade-Elizondo P.B., Sirmaci A., Parise L.V.,
Basit S., Wali A., Ayub M., Ansar M., Ahmad W., Khan S.N., Akram J.,
Tekin M., Riazuddin S., Cook T., Buschbeck E.K., Frolenkov G.I.,
Leal S.M., Friedman T.B., Ahmed Z.M.;
"Alterations of the CIB2 calcium- and integrin-binding protein cause
Usher syndrome type 1J and nonsyndromic deafness DFNB48.";
Nat. Genet. 44:1265-1271(2012).
[14]
PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-685, AND IDENTIFICATION
BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
TISSUE=Erythroleukemia;
PubMed=23186163; DOI=10.1021/pr300630k;
Zhou H., Di Palma S., Preisinger C., Peng M., Polat A.N., Heck A.J.,
Mohammed S.;
"Toward a comprehensive characterization of a human cancer cell
phosphoproteome.";
J. Proteome Res. 12:260-271(2013).
[15]
STRUCTURE BY NMR OF 136-378 AND 815-904.
RIKEN structural genomics initiative (RSGI);
"Solution structure of PDZ domains of human KIAA1526 protein.";
Submitted (DEC-2003) to the PDB data bank.
-!- FUNCTION: Necessary for elongation and maintenance of inner and
outer hair cell stereocilia in the organ of Corti in the inner
ear. {ECO:0000250}.
-!- SUBUNIT: Forms homooligomers (By similarity). Interacts with USH2A
(PubMed:16434480). Interacts with GPR98/MASS1 (PubMed:16434480).
Interacts (via C-terminal PDZ domain) with MPP1/p55
(PubMed:17584769). Interacts with CIB2 (PubMed:23023331).
Interacts (via C-terminal PDZ domain) with MYO15A; this
interaction is necessary for localization of WHRN to stereocilia
tips. Interacts with LRRC4C/NGL1. Interacts with MYO7A. Interacts
with RPGR. Interacts with EPS8. Interacts with CASK (By
similarity). {ECO:0000250|UniProtKB:Q80VW5,
ECO:0000250|UniProtKB:Q810W9, ECO:0000269|PubMed:16434480,
ECO:0000269|PubMed:17584769, ECO:0000269|PubMed:23023331}.
-!- SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}. Cell projection,
stereocilium {ECO:0000250}. Cell projection, growth cone
{ECO:0000250}. 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). {ECO:0000250, ECO:0000269|PubMed:17584769}.
-!- ALTERNATIVE PRODUCTS:
Event=Alternative splicing; Named isoforms=4;
Name=1;
IsoId=Q9P202-1; Sequence=Displayed;
Name=2;
IsoId=Q9P202-2; Sequence=VSP_012218, VSP_012219;
Note=May be due to an intron retention.;
Name=3;
IsoId=Q9P202-3; Sequence=VSP_012216;
Note=No experimental confirmation available.;
Name=4;
IsoId=Q9P202-4; Sequence=VSP_012217, VSP_012220;
-!- DISEASE: 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. {ECO:0000269|PubMed:11973626,
ECO:0000269|PubMed:12833159, ECO:0000269|PubMed:15841483}.
Note=The disease is caused by mutations affecting the gene
represented in this entry.
-!- DISEASE: 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. {ECO:0000269|PubMed:17171570}. Note=The disease is
caused by mutations affecting the gene represented in this entry.
-!- SEQUENCE CAUTION:
Sequence=BAA96050.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};
-!- WEB RESOURCE: Name=Hereditary hearing loss homepage; Note=Gene
page;
URL="http://hereditaryhearingloss.org/main.aspx?c=.HHH&n=86162";
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EMBL; AB040959; BAA96050.1; ALT_INIT; mRNA.
EMBL; AK022854; BAB14275.1; -; mRNA.
EMBL; AK056190; -; NOT_ANNOTATED_CDS; mRNA.
EMBL; AL110228; CAB53685.2; -; mRNA.
EMBL; AL138895; -; NOT_ANNOTATED_CDS; Genomic_DNA.
EMBL; KF459656; -; NOT_ANNOTATED_CDS; Genomic_DNA.
EMBL; KF459658; -; NOT_ANNOTATED_CDS; Genomic_DNA.
EMBL; CH471090; EAW87422.1; -; Genomic_DNA.
EMBL; CH471090; EAW87423.1; -; Genomic_DNA.
EMBL; BC142614; AAI42615.1; -; mRNA.
EMBL; BC142684; AAI42685.1; -; mRNA.
CCDS; CCDS43870.1; -. [Q9P202-3]
CCDS; CCDS6806.1; -. [Q9P202-1]
CCDS; CCDS87678.1; -. [Q9P202-4]
PIR; T14765; T14765.
RefSeq; NP_001077354.2; NM_001083885.2. [Q9P202-3]
RefSeq; NP_001166896.1; NM_001173425.1.
RefSeq; NP_056219.3; NM_015404.3. [Q9P202-1]
UniGene; Hs.93836; -.
PDB; 1UEZ; NMR; -; A=137-224.
PDB; 1UF1; NMR; -; A=263-378.
PDB; 1UFX; NMR; -; A=815-904.
PDBsum; 1UEZ; -.
PDBsum; 1UF1; -.
PDBsum; 1UFX; -.
ProteinModelPortal; Q9P202; -.
SMR; Q9P202; -.
BioGrid; 117381; 10.
CORUM; Q9P202; -.
IntAct; Q9P202; 16.
MINT; Q9P202; -.
STRING; 9606.ENSP00000354623; -.
iPTMnet; Q9P202; -.
PhosphoSitePlus; Q9P202; -.
SwissPalm; Q9P202; -.
BioMuta; DFNB31; -.
DMDM; 296453079; -.
EPD; Q9P202; -.
PaxDb; Q9P202; -.
PeptideAtlas; Q9P202; -.
PRIDE; Q9P202; -.
ProteomicsDB; 83692; -.
ProteomicsDB; 83693; -. [Q9P202-2]
ProteomicsDB; 83694; -. [Q9P202-3]
ProteomicsDB; 83695; -. [Q9P202-4]
Ensembl; ENST00000265134; ENSP00000265134; ENSG00000095397. [Q9P202-3]
Ensembl; ENST00000362057; ENSP00000354623; ENSG00000095397. [Q9P202-1]
Ensembl; ENST00000374057; ENSP00000363170; ENSG00000095397. [Q9P202-2]
Ensembl; ENST00000374059; ENSP00000363172; ENSG00000095397. [Q9P202-4]
GeneID; 25861; -.
KEGG; hsa:25861; -.
UCSC; uc004biy.5; human. [Q9P202-1]
CTD; 25861; -.
DisGeNET; 25861; -.
EuPathDB; HostDB:ENSG00000095397.13; -.
GeneCards; WHRN; -.
GeneReviews; DFNB31; -.
HGNC; HGNC:16361; WHRN.
HPA; CAB033194; -.
HPA; HPA002480; -.
MalaCards; WHRN; -.
MIM; 607084; phenotype.
MIM; 607928; gene.
MIM; 611383; phenotype.
neXtProt; NX_Q9P202; -.
OpenTargets; ENSG00000095397; -.
Orphanet; 90636; Autosomal recessive non-syndromic sensorineural deafness type DFNB.
Orphanet; 231178; Usher syndrome type 2.
PharmGKB; PA27297; -.
eggNOG; ENOG410ITAG; Eukaryota.
eggNOG; ENOG410XTF7; LUCA.
GeneTree; ENSGT00530000063178; -.
HOVERGEN; HBG056634; -.
InParanoid; Q9P202; -.
KO; K21879; -.
OMA; ALVNQHP; -.
OrthoDB; EOG091G01FL; -.
PhylomeDB; Q9P202; -.
TreeFam; TF325033; -.
ChiTaRS; WHRN; human.
EvolutionaryTrace; Q9P202; -.
GeneWiki; DFNB31; -.
GenomeRNAi; 25861; -.
PRO; PR:Q9P202; -.
Proteomes; UP000005640; Chromosome 9.
Bgee; ENSG00000095397; Expressed in 168 organ(s), highest expression level in right adrenal gland.
CleanEx; HS_DFNB31; -.
ExpressionAtlas; Q9P202; baseline and differential.
GO; GO:0005884; C:actin filament; IEA:Ensembl.
GO; GO:0036064; C:ciliary basal body; IEA:Ensembl.
GO; GO:0005737; C:cytoplasm; IDA:HGNC.
GO; GO:0030426; C:growth cone; IEA:UniProtKB-SubCell.
GO; GO:1990075; C:periciliary membrane compartment; IEA:Ensembl.
GO; GO:0032391; C:photoreceptor connecting cilium; IEA:Ensembl.
GO; GO:0001917; C:photoreceptor inner segment; IEA:Ensembl.
GO; GO:0002142; C:stereocilia ankle link complex; IEA:Ensembl.
GO; GO:0032420; C:stereocilium; ISS:UniProtKB.
GO; GO:0032426; C:stereocilium tip; IEA:Ensembl.
GO; GO:1990696; C:USH2 complex; IEA:Ensembl.
GO; GO:0046982; F:protein heterodimerization activity; IEA:Ensembl.
GO; GO:0042803; F:protein homodimerization activity; IEA:Ensembl.
GO; GO:0060088; P:auditory receptor cell stereocilium organization; IEA:Ensembl.
GO; GO:0021694; P:cerebellar Purkinje cell layer formation; IEA:Ensembl.
GO; GO:0045184; P:establishment of protein localization; IEA:Ensembl.
GO; GO:0060122; P:inner ear receptor cell stereocilium organization; ISS:UniProtKB.
GO; GO:1990227; P:paranodal junction maintenance; IEA:Ensembl.
GO; GO:0010628; P:positive regulation of gene expression; IEA:Ensembl.
GO; GO:0001895; P:retina homeostasis; IMP:HGNC.
GO; GO:0050953; P:sensory perception of light stimulus; IMP:HGNC.
GO; GO:0007605; P:sensory perception of sound; IMP:HGNC.
InterPro; IPR001478; PDZ.
InterPro; IPR036034; PDZ_sf.
InterPro; IPR033028; Whirlin.
PANTHER; PTHR23116:SF37; PTHR23116:SF37; 1.
Pfam; PF00595; PDZ; 3.
SMART; SM00228; PDZ; 3.
SUPFAM; SSF50156; SSF50156; 3.
PROSITE; PS50106; PDZ; 3.
1: Evidence at protein level;
3D-structure; Alternative splicing; Cell projection;
Complete proteome; Cytoplasm; Deafness; Hearing;
Non-syndromic deafness; Phosphoprotein; Polymorphism;
Reference proteome; Repeat; Retinitis pigmentosa; Usher syndrome.
CHAIN 1 907 Whirlin.
/FTId=PRO_0000065968.
DOMAIN 140 223 PDZ 1. {ECO:0000255|PROSITE-
ProRule:PRU00143}.
DOMAIN 279 361 PDZ 2. {ECO:0000255|PROSITE-
ProRule:PRU00143}.
DOMAIN 816 899 PDZ 3. {ECO:0000255|PROSITE-
ProRule:PRU00143}.
COMPBIAS 9 31 Ala/Gly/Ser-rich.
COMPBIAS 581 712 Pro-rich.
MOD_RES 685 685 Phosphoserine.
{ECO:0000244|PubMed:23186163}.
VAR_SEQ 1 383 Missing (in isoform 3).
{ECO:0000303|PubMed:17974005}.
/FTId=VSP_012216.
VAR_SEQ 1 351 Missing (in isoform 4).
{ECO:0000303|PubMed:14702039}.
/FTId=VSP_012217.
VAR_SEQ 281 345 NLVLGDGRSLGLTIRGGAEYGLGIYITGVDPGSEAEGSGLK
VGDQILEVNGRSFLNILHDEAVRL -> SGVGKGGQPLRHR
ILPPNPEQQSCLEAARRGWFCPGSVFPQVCTEGWCFFFAFL
FDLCSVCYNTG (in isoform 2).
{ECO:0000303|PubMed:14702039}.
/FTId=VSP_012218.
VAR_SEQ 346 907 Missing (in isoform 2).
{ECO:0000303|PubMed:14702039}.
/FTId=VSP_012219.
VAR_SEQ 352 389 LILTVKDVGRLPHARTTVDETKWIASSRIRETMANSAG ->
MHGSLEALLFLPQVTLSLAHAHLICSNAQLEMCVFPHR
(in isoform 4).
{ECO:0000303|PubMed:14702039}.
/FTId=VSP_012220.
VARIANT 364 364 H -> R (in dbSNP:rs10817610).
/FTId=VAR_036684.
VARIANT 423 423 R -> P (in dbSNP:rs35003670).
/FTId=VAR_036685.
VARIANT 440 440 A -> T (in dbSNP:rs4978584).
/FTId=VAR_020593.
VARIANT 443 443 A -> S (in dbSNP:rs11539662).
/FTId=VAR_057029.
VARIANT 562 562 P -> A (in dbSNP:rs12339210).
/FTId=VAR_036686.
VARIANT 613 613 M -> T (in dbSNP:rs942519).
{ECO:0000269|PubMed:14702039,
ECO:0000269|PubMed:15489334}.
/FTId=VAR_036687.
VARIANT 752 752 Q -> H (in dbSNP:rs6478078).
/FTId=VAR_036688.
VARIANT 783 783 V -> A (in dbSNP:rs2274159).
{ECO:0000269|PubMed:14702039,
ECO:0000269|PubMed:15489334}.
/FTId=VAR_020594.
VARIANT 796 796 N -> K (in dbSNP:rs2274158).
/FTId=VAR_020595.
VARIANT 813 813 T -> M (in dbSNP:rs942519).
/FTId=VAR_020596.
CONFLICT 225 225 P -> S (in Ref. 2; AK056190).
{ECO:0000305}.
CONFLICT 716 716 G -> V (in Ref. 2; BAB14275).
{ECO:0000305}.
STRAND 139 141 {ECO:0000244|PDB:1UEZ}.
STRAND 152 158 {ECO:0000244|PDB:1UEZ}.
TURN 160 163 {ECO:0000244|PDB:1UEZ}.
STRAND 166 171 {ECO:0000244|PDB:1UEZ}.
HELIX 176 180 {ECO:0000244|PDB:1UEZ}.
STRAND 188 191 {ECO:0000244|PDB:1UEZ}.
HELIX 201 207 {ECO:0000244|PDB:1UEZ}.
STRAND 208 213 {ECO:0000244|PDB:1UEZ}.
STRAND 216 218 {ECO:0000244|PDB:1UEZ}.
TURN 263 265 {ECO:0000244|PDB:1UF1}.
STRAND 275 283 {ECO:0000244|PDB:1UF1}.
STRAND 292 295 {ECO:0000244|PDB:1UF1}.
TURN 298 301 {ECO:0000244|PDB:1UF1}.
STRAND 305 309 {ECO:0000244|PDB:1UF1}.
HELIX 314 318 {ECO:0000244|PDB:1UF1}.
STRAND 325 329 {ECO:0000244|PDB:1UF1}.
HELIX 339 346 {ECO:0000244|PDB:1UF1}.
STRAND 350 357 {ECO:0000244|PDB:1UF1}.
STRAND 815 820 {ECO:0000244|PDB:1UFX}.
STRAND 823 825 {ECO:0000244|PDB:1UFX}.
STRAND 828 831 {ECO:0000244|PDB:1UFX}.
STRAND 842 846 {ECO:0000244|PDB:1UFX}.
HELIX 851 855 {ECO:0000244|PDB:1UFX}.
HELIX 877 889 {ECO:0000244|PDB:1UFX}.
STRAND 894 900 {ECO:0000244|PDB:1UFX}.
SEQUENCE 907 AA; 96558 MW; 78ABE7A305132B89 CRC64;
MNAPLDGLSV SSSSTGSLGS AAGAGGGGGA GLRLLSANVR QLHQALTALL SEAEREQFTH
CLNAYHARRN VFDLVRTLRV LLDSPVKRRL LPMLRLVIPR SDQLLFDQYT AEGLYLPATT
PYRQPAWGGP DSAGPGEVRL VSLRRAKAHE GLGFSIRGGS EHGVGIYVSL VEPGSLAEKE
GLRVGDQILR VNDKSLARVT HAEAVKALKG SKKLVLSVYS AGRIPGGYVT NHIYTWVDPQ
GRSISPPSGL PQPHGGALRQ QEGDRRSTLH LLQGGDEKKV NLVLGDGRSL GLTIRGGAEY
GLGIYITGVD PGSEAEGSGL KVGDQILEVN GRSFLNILHD EAVRLLKSSR HLILTVKDVG
RLPHARTTVD ETKWIASSRI RETMANSAGF LGDLTTEGIN KPGFYKGPAG SQVTLSSLGN
QTRVLLEEQA RHLLNEQEHA TMAYYLDEYR GGSVSVEALV MALFKLLNTH AKFSLLSEVR
GTISPQDLER FDHLVLRREI ESMKARQPPG PGAGDTYSMV SYSDTGSSTG SHGTSTTVSS
ARNTLDLEET GEAVQGNINA LPDVSVDDVR STSQGLSSFK PLPRPPPLAQ GNDLPLGQPR
KLGREDLQPP SSMPSCSGTV FSAPQNRSPP AGTAPTPGTS SAQDLPSSPI YASVSPANPS
SKRPLDAHLA LVNQHPIGPF PRVQSPPHLK SPSAEATVAG GCLLPPSPSG HPDQTGTNQH
FVMVEVHRPD SEPDVNEVRA LPQTRTASTL SQLSDSGQTL SEDSGVDAGE AEASAPGRGR
QSVSTKSRSS KELPRNERPT DGANKPPGLL EPTSTLVRVK KSAATLGIAI EGGANTRQPL
PRIVTIQRGG SAHNCGQLKV GHVILEVNGL TLRGKEHREA ARIIAEAFKT KDRDYIDFLV
TEFNVML


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