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Whirlin

 WHRN_MOUSE              Reviewed;         918 AA.
Q80VW5; A2AGD2; I6MML6; I6MML7; Q3TZC8; Q5MLF1; Q5MLF2; Q5MLF3;
Q5MLF4; Q5MLF5; Q5MLF6; Q5MLF7; Q5MLF8; Q5MLF9; Q80TC2; Q80VW4;
07-DEC-2004, integrated into UniProtKB/Swiss-Prot.
04-DEC-2007, sequence version 3.
20-JUN-2018, entry version 120.
RecName: Full=Whirlin;
Name=Whrn {ECO:0000312|MGI:MGI:2682003}; Synonyms=Dfnb31, Kiaa1526;
Mus musculus (Mouse).
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha;
Muroidea; Muridae; Murinae; Mus; Mus.
NCBI_TaxID=10090;
[1]
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1; 2; 3; 4; 5; 6; 7; 8 AND 9),
INTERACTION WITH MYO15A, AND SUBCELLULAR LOCATION.
STRAIN=C57BL/6J; TISSUE=Inner ear;
PubMed=15654330; DOI=10.1038/ncb1219;
Belyantseva I.A., Boger E.T., Naz S., Frolenkov G.I., Sellers J.R.,
Ahmed Z.M., Griffith A.J., Friedman T.B.;
"Myosin-XVa is required for tip localization of whirlin and
differential elongation of hair-cell stereocilia.";
Nat. Cell Biol. 7:148-156(2005).
[2]
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 11 AND 12), INTERACTION WITH
RPGR, AND TISSUE SPECIFICITY.
STRAIN=C57BL/6J; TISSUE=Retina;
PubMed=22323458; DOI=10.1167/iovs.11-8845;
Wright R.N., Hong D.H., Perkins B.;
"RpgrORF15 connects to the usher protein network through direct
interactions with multiple whirlin isoforms.";
Invest. Ophthalmol. Vis. Sci. 53:1519-1529(2012).
[3]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 10).
STRAIN=C57BL/6J; TISSUE=Inner ear;
PubMed=16141072; DOI=10.1126/science.1112014;
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.;
"The transcriptional landscape of the mammalian genome.";
Science 309:1559-1563(2005).
[4]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
STRAIN=C57BL/6J;
PubMed=19468303; DOI=10.1371/journal.pbio.1000112;
Church D.M., Goodstadt L., Hillier L.W., Zody M.C., Goldstein S.,
She X., Bult C.J., Agarwala R., Cherry J.L., DiCuccio M., Hlavina W.,
Kapustin Y., Meric P., Maglott D., Birtle Z., Marques A.C., Graves T.,
Zhou S., Teague B., Potamousis K., Churas C., Place M., Herschleb J.,
Runnheim R., Forrest D., Amos-Landgraf J., Schwartz D.C., Cheng Z.,
Lindblad-Toh K., Eichler E.E., Ponting C.P.;
"Lineage-specific biology revealed by a finished genome assembly of
the mouse.";
PLoS Biol. 7:E1000112-E1000112(2009).
[5]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 38-918 (ISOFORM 4).
TISSUE=Brain;
PubMed=12693553; DOI=10.1093/dnares/10.1.35;
Okazaki N., Kikuno R., Ohara R., Inamoto S., Aizawa H., Yuasa S.,
Nakajima D., Nagase T., Ohara O., Koga H.;
"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.";
DNA Res. 10:35-48(2003).
[6]
DISEASE.
PubMed=12124769; DOI=10.1002/cne.10301;
Holme R.H., Kiernan B.W., Brown S.D.M., Steel K.P.;
"Elongation of hair cell stereocilia is defective in the mouse mutant
whirler.";
J. Comp. Neurol. 450:94-102(2002).
[7]
DISEASE, ALTERNATIVE SPLICING, AND TISSUE SPECIFICITY.
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).
[8]
FUNCTION, SUBCELLULAR LOCATION, TISSUE SPECIFICITY, AND DEVELOPMENTAL
STAGE.
PubMed=15590699; DOI=10.1093/hmg/ddi035;
Kikkawa Y., Mburu P., Morse S., Kominami R., Townsend S.,
Brown S.D.M.;
"Mutant analysis reveals whirlin as a dynamic organizer in the growing
hair cell stereocilium.";
Hum. Mol. Genet. 14:391-400(2005).
[9]
SUBUNIT, INTERACTION WITH LRRC4C; MYO7A AND MYO15A, AND SUBCELLULAR
LOCATION.
PubMed=15590698; DOI=10.1093/hmg/ddi036;
Delprat B., Michel V., Goodyear R., Yamasaki Y., Michalski N.,
El-Amraoui A., Perfettini I., Legrain P., Richardson G.,
Hardelin J.-P., Petit C.;
"Myosin XVa and whirlin, two deafness gene products required for hair
bundle growth, are located at the stereocilia tips and interact
directly.";
Hum. Mol. Genet. 14:401-410(2005).
[10]
INTERACTION WITH USH2A.
PubMed=16301217; DOI=10.1093/hmg/ddi416;
Adato A., Lefevre G., Delprat B., Michel V., Michalski N.,
Chardenoux S., Weil D., El-Amraoui A., Petit C.;
"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.";
Hum. Mol. Genet. 14:3921-3932(2005).
[11]
INTERACTION WITH MPP1.
PubMed=16829577; DOI=10.1073/pnas.0600923103;
Mburu P., Kikkawa Y., Townsend S., Romero R., Yonekawa H., Brown S.D.;
"Whirlin complexes with p55 at the stereocilia tip during hair cell
development.";
Proc. Natl. Acad. Sci. U.S.A. 103:10973-10978(2006).
[12]
DISEASE.
PubMed=17326148; DOI=10.1002/cm.20199;
Mogensen M.M., Rzadzinska A., Steel K.P.;
"The deaf mouse mutant whirler suggests a role for whirlin in actin
filament dynamics and stereocilia development.";
Cell Motil. Cytoskeleton 64:496-508(2007).
[13]
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).
[14]
INTERACTION WITH EPS8.
PubMed=21236676; DOI=10.1016/j.cub.2010.12.046;
Manor U., Disanza A., Grati M., Andrade L., Lin H., Di Fiore P.P.,
Scita G., Kachar B.;
"Regulation of stereocilia length by myosin XVa and whirlin depends on
the actin-regulatory protein Eps8.";
Curr. Biol. 21:167-172(2011).
-!- FUNCTION: Necessary for elongation and maintenance of inner and
outer hair cell stereocilia in the organ of Corti in the inner
ear. {ECO:0000269|PubMed:15590699}.
-!- SUBUNIT: Forms homooligomers (PubMed:15590698). Interacts (via C-
terminal PDZ domain) with MYO15A; this interaction is necessary
for localization of WHRN to stereocilia tips (PubMed:15654330,
PubMed:15590698). Interacts (via C-terminal PDZ domain) with
MPP1/p55 (PubMed:16829577, PubMed:17584769). Interacts with USH2A
(PubMed:16301217). Interacts with LRRC4C/NGL1 (PubMed:15590698).
Interacts with MYO7A (PubMed:15590698). Interacts with RPGR
(PubMed:22323458). Interacts with EPS8 (PubMed:21236676).
Interacts with GPR98/MASS1. Interacts with CASK. Interacts with
CIB2 (By similarity). {ECO:0000250|UniProtKB:Q810W9,
ECO:0000250|UniProtKB:Q9P202, ECO:0000269|PubMed:15590698,
ECO:0000269|PubMed:15654330, ECO:0000269|PubMed:16301217,
ECO:0000269|PubMed:16829577, ECO:0000269|PubMed:17584769,
ECO:0000269|PubMed:21236676, ECO:0000269|PubMed:22323458}.
-!- INTERACTION:
Q8C031:Lrrc4c; NbExp=4; IntAct=EBI-7417603, EBI-7417983;
P70290:Mpp1; NbExp=4; IntAct=EBI-7417603, EBI-8315951;
Q9QZZ4:Myo15a; NbExp=5; IntAct=EBI-7417603, EBI-4281382;
Q9R0X5-5:Rpgr; NbExp=2; IntAct=EBI-6915655, EBI-6915646;
-!- SUBCELLULAR LOCATION: Cytoplasm. Cell projection, stereocilium.
Cell projection, growth 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).
-!- ALTERNATIVE PRODUCTS:
Event=Alternative splicing; Named isoforms=12;
Name=1;
IsoId=Q80VW5-1; Sequence=Displayed;
Name=2;
IsoId=Q80VW5-2; Sequence=VSP_029939, VSP_029941;
Name=3;
IsoId=Q80VW5-3; Sequence=VSP_029941;
Note=Major isoform.;
Name=4;
IsoId=Q80VW5-4; Sequence=VSP_029941, VSP_029943;
Name=5;
IsoId=Q80VW5-5; Sequence=VSP_029937, VSP_029938, VSP_029941;
Name=6;
IsoId=Q80VW5-6; Sequence=VSP_029936;
Name=7;
IsoId=Q80VW5-7; Sequence=VSP_029936, VSP_029941;
Name=8;
IsoId=Q80VW5-8; Sequence=VSP_029935, VSP_029941;
Name=9;
IsoId=Q80VW5-9; Sequence=VSP_029934;
Name=10;
IsoId=Q80VW5-10; Sequence=VSP_029940, VSP_029942;
Note=No experimental confirmation available.;
Name=11; Synonyms=WhirlinNT2;
IsoId=Q80VW5-11; Sequence=VSP_045294, VSP_045295;
Note=May be due to intron retention.;
Name=12; Synonyms=WhirlinNT1;
IsoId=Q80VW5-12; Sequence=VSP_045293;
Note=May be due to intron retention.;
-!- TISSUE SPECIFICITY: 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. {ECO:0000269|PubMed:12833159,
ECO:0000269|PubMed:15590699, ECO:0000269|PubMed:22323458}.
-!- DEVELOPMENTAL STAGE: 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. {ECO:0000269|PubMed:15590699}.
-!- DISEASE: Note=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.
{ECO:0000269|PubMed:12124769, ECO:0000269|PubMed:12833159,
ECO:0000269|PubMed:17326148}.
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EMBL; AY739114; AAV87519.1; -; mRNA.
EMBL; AY739115; AAV87520.1; -; mRNA.
EMBL; AY739116; AAV87521.1; -; mRNA.
EMBL; AY739117; AAV87522.1; -; mRNA.
EMBL; AY739118; AAV87523.1; -; mRNA.
EMBL; AY739119; AAV87524.1; -; mRNA.
EMBL; AY739120; AAV87525.1; -; mRNA.
EMBL; AY739121; AAV87526.1; -; mRNA.
EMBL; AY739122; AAV87527.1; -; mRNA.
EMBL; HQ148552; AEL23234.1; -; mRNA.
EMBL; HQ148553; AEL23235.1; -; mRNA.
EMBL; AK157955; BAE34281.1; -; mRNA.
EMBL; AL683828; -; NOT_ANNOTATED_CDS; Genomic_DNA.
EMBL; AK122523; BAC65805.1; -; mRNA.
CCDS; CCDS18255.1; -. [Q80VW5-1]
CCDS; CCDS18256.1; -. [Q80VW5-4]
CCDS; CCDS18257.1; -. [Q80VW5-3]
CCDS; CCDS38778.1; -. [Q80VW5-2]
RefSeq; NP_001008791.1; NM_001008791.2. [Q80VW5-1]
RefSeq; NP_001008792.1; NM_001008792.2. [Q80VW5-2]
RefSeq; NP_001008793.1; NM_001008793.2. [Q80VW5-4]
RefSeq; NP_001263300.1; NM_001276371.1. [Q80VW5-12]
RefSeq; NP_082916.1; NM_028640.2. [Q80VW5-3]
RefSeq; XP_017175899.1; XM_017320410.1. [Q80VW5-5]
UniGene; Mm.300397; -.
ProteinModelPortal; Q80VW5; -.
SMR; Q80VW5; -.
CORUM; Q80VW5; -.
DIP; DIP-42047N; -.
IntAct; Q80VW5; 5.
MINT; Q80VW5; -.
STRING; 10090.ENSMUSP00000081557; -.
iPTMnet; Q80VW5; -.
PhosphoSitePlus; Q80VW5; -.
PaxDb; Q80VW5; -.
PRIDE; Q80VW5; -.
Ensembl; ENSMUST00000063650; ENSMUSP00000069664; ENSMUSG00000039137. [Q80VW5-3]
Ensembl; ENSMUST00000063672; ENSMUSP00000065838; ENSMUSG00000039137. [Q80VW5-10]
Ensembl; ENSMUST00000084510; ENSMUSP00000081557; ENSMUSG00000039137. [Q80VW5-1]
Ensembl; ENSMUST00000095037; ENSMUSP00000092647; ENSMUSG00000039137. [Q80VW5-8]
Ensembl; ENSMUST00000095038; ENSMUSP00000092648; ENSMUSG00000039137. [Q80VW5-6]
Ensembl; ENSMUST00000102867; ENSMUSP00000099931; ENSMUSG00000039137. [Q80VW5-4]
Ensembl; ENSMUST00000107393; ENSMUSP00000103016; ENSMUSG00000039137. [Q80VW5-2]
Ensembl; ENSMUST00000119294; ENSMUSP00000114030; ENSMUSG00000039137. [Q80VW5-7]
GeneID; 73750; -.
KEGG; mmu:73750; -.
UCSC; uc008tgf.1; mouse. [Q80VW5-9]
UCSC; uc008tgg.1; mouse. [Q80VW5-5]
UCSC; uc008tgh.2; mouse. [Q80VW5-1]
UCSC; uc008tgi.2; mouse. [Q80VW5-4]
UCSC; uc008tgj.2; mouse. [Q80VW5-2]
UCSC; uc008tgk.2; mouse. [Q80VW5-3]
UCSC; uc008tgm.1; mouse. [Q80VW5-8]
UCSC; uc008tgn.1; mouse. [Q80VW5-7]
UCSC; uc008tgp.2; mouse. [Q80VW5-10]
UCSC; uc033icr.1; mouse. [Q80VW5-12]
CTD; 25861; -.
MGI; MGI:2682003; Whrn.
eggNOG; ENOG410ITAG; Eukaryota.
eggNOG; ENOG410XTF7; LUCA.
GeneTree; ENSGT00530000063178; -.
HOVERGEN; HBG056634; -.
InParanoid; Q80VW5; -.
KO; K21879; -.
OMA; ALVNQHP; -.
OrthoDB; EOG091G01FL; -.
PhylomeDB; Q80VW5; -.
TreeFam; TF325033; -.
ChiTaRS; Whrn; mouse.
PRO; PR:Q80VW5; -.
Proteomes; UP000000589; Chromosome 4.
Bgee; ENSMUSG00000039137; -.
CleanEx; MM_WHRN; -.
ExpressionAtlas; Q80VW5; baseline and differential.
Genevisible; Q80VW5; MM.
GO; GO:0005884; C:actin filament; IDA:MGI.
GO; GO:0030424; C:axon; ISO:MGI.
GO; GO:0036064; C:ciliary basal body; IDA:MGI.
GO; GO:0005929; C:cilium; IDA:MGI.
GO; GO:0005737; C:cytoplasm; ISO:MGI.
GO; GO:0030425; C:dendrite; ISO:MGI.
GO; GO:0043198; C:dendritic shaft; ISO:MGI.
GO; GO:0030426; C:growth cone; IEA:UniProtKB-SubCell.
GO; GO:0016020; C:membrane; ISO:MGI.
GO; GO:0043025; C:neuronal cell body; ISO:MGI.
GO; GO:1990075; C:periciliary membrane compartment; IDA:MGI.
GO; GO:0032391; C:photoreceptor connecting cilium; IDA:MGI.
GO; GO:0001917; C:photoreceptor inner segment; IDA:MGI.
GO; GO:0002141; C:stereocilia ankle link; IDA:MGI.
GO; GO:0002142; C:stereocilia ankle link complex; IDA:MGI.
GO; GO:0032420; C:stereocilium; IDA:UniProtKB.
GO; GO:0032421; C:stereocilium bundle; IDA:MGI.
GO; GO:0032426; C:stereocilium tip; IDA:MGI.
GO; GO:0045202; C:synapse; ISO:MGI.
GO; GO:1990696; C:USH2 complex; IDA:MGI.
GO; GO:0019904; F:protein domain specific binding; ISO:MGI.
GO; GO:0046982; F:protein heterodimerization activity; IPI:MGI.
GO; GO:0042803; F:protein homodimerization activity; IPI:MGI.
GO; GO:0060088; P:auditory receptor cell stereocilium organization; IMP:MGI.
GO; GO:0021694; P:cerebellar Purkinje cell layer formation; IMP:CACAO.
GO; GO:0045184; P:establishment of protein localization; IMP:MGI.
GO; GO:0060122; P:inner ear receptor cell stereocilium organization; IMP:UniProtKB.
GO; GO:1990227; P:paranodal junction maintenance; IMP:CACAO.
GO; GO:0010628; P:positive regulation of gene expression; IDA:MGI.
GO; GO:0001895; P:retina homeostasis; ISO:MGI.
GO; GO:0050953; P:sensory perception of light stimulus; ISO:MGI.
GO; GO:0007605; P:sensory perception of sound; IMP:MGI.
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;
Alternative splicing; Cell projection; Complete proteome; Cytoplasm;
Deafness; Hearing; Phosphoprotein; Reference proteome; Repeat.
CHAIN 1 918 Whirlin.
/FTId=PRO_0000065969.
DOMAIN 141 224 PDZ 1. {ECO:0000255|PROSITE-
ProRule:PRU00143}.
DOMAIN 280 362 PDZ 2. {ECO:0000255|PROSITE-
ProRule:PRU00143}.
DOMAIN 827 910 PDZ 3. {ECO:0000255|PROSITE-
ProRule:PRU00143}.
COMPBIAS 9 32 Ala/Gly/Ser-rich.
COMPBIAS 584 723 Pro-rich.
MOD_RES 696 696 Phosphoserine.
{ECO:0000250|UniProtKB:Q9P202}.
VAR_SEQ 1 552 Missing (in isoform 9).
{ECO:0000303|PubMed:15654330}.
/FTId=VSP_029934.
VAR_SEQ 1 503 Missing (in isoform 8).
{ECO:0000303|PubMed:15654330}.
/FTId=VSP_029935.
VAR_SEQ 1 442 Missing (in isoform 6 and isoform 7).
{ECO:0000303|PubMed:15654330}.
/FTId=VSP_029936.
VAR_SEQ 1 357 Missing (in isoform 5).
{ECO:0000303|PubMed:15654330}.
/FTId=VSP_029937.
VAR_SEQ 323 918 Missing (in isoform 12).
{ECO:0000303|PubMed:22323458}.
/FTId=VSP_045293.
VAR_SEQ 358 402 KDVGRLPHARTTVDQTKWIASSRIGESVANSAGFPGDHTEE
GTSK -> MTTWCHRPRVRWSGSCVCGDHQHNARSHSLPRS
LDSSGLCPSVFQ (in isoform 5).
{ECO:0000303|PubMed:15654330}.
/FTId=VSP_029938.
VAR_SEQ 390 390 G -> GSGLR (in isoform 2).
{ECO:0000303|PubMed:15654330}.
/FTId=VSP_029939.
VAR_SEQ 544 571 ERLLWLIDLMENTLDLEGTGETTQGSTN -> VSHPCPILG
EKVRARIRCFPPKPRVPHL (in isoform 10).
{ECO:0000303|PubMed:16141072}.
/FTId=VSP_029940.
VAR_SEQ 544 554 Missing (in isoform 2, isoform 3, isoform
4, isoform 5, isoform 7 and isoform 8).
{ECO:0000303|PubMed:12693553,
ECO:0000303|PubMed:15654330}.
/FTId=VSP_029941.
VAR_SEQ 555 566 NTLDLEGTGETT -> VPSFCRGRLGVP (in isoform
11). {ECO:0000303|PubMed:22323458}.
/FTId=VSP_045294.
VAR_SEQ 567 918 Missing (in isoform 11).
{ECO:0000303|PubMed:22323458}.
/FTId=VSP_045295.
VAR_SEQ 572 918 Missing (in isoform 10).
{ECO:0000303|PubMed:16141072}.
/FTId=VSP_029942.
VAR_SEQ 758 758 Missing (in isoform 4).
{ECO:0000303|PubMed:12693553,
ECO:0000303|PubMed:15654330}.
/FTId=VSP_029943.
CONFLICT 504 504 M -> V (in Ref. 3; BAE34281).
{ECO:0000305}.
SEQUENCE 918 AA; 98012 MW; 7D5EA44DE0645AA4 CRC64;
MNAQLDGLSV SSSSTGSLGS AAAAAGGGGG AGLRLLSANV RQLHQALTAL LSEPEREQFT
HCLNAYHARR NVFDLVRTLR VLLDSPVKRR LLPMLRLVIP RSDQLLFDQY TAEGLYLPAT
TPYRQPAWAA PDGAGPGEVR LVSLRRAKAH EGLGFSIRGG SEHGVGIYVS LVEPGSLAEK
EGLRVGDQIL RVNDKSLARV THAEAVKALK GSKKLVLSVY SAGRIPGGYV TNHIYTWVDP
QGRSTSPPSS LPQPHGSTLR QREDDRRSTL HLLQSGDEKK VNLVLGDGRS LGLTIRGGAE
YGLGIYITGV DPGSEAESSG LKVGDQILEV NGRSFLNILH DEAVKLLKSS RHLILTVKDV
GRLPHARTTV DQTKWIASSR IGESVANSAG FPGDHTEEGT SKPGFYKGPA GSQVTLSSLG
NQTRALLDDQ ARHLLTEQER ATMMYYLAQY RGGTISVEAM VMALFELLNT HAKFSLLSEV
RSIISPQDLD RFDHLVLRRE IESMKARQPP GPGVGDTYSM VSYSDTGSST GSHGTSTTVS
SARERLLWLI DLMENTLDLE GTGETTQGST NALPDVSVDD VKSPSEDLPG IKPPPPPPPL
AQGHDRLLGQ PRKPGREDPA PLSSAAHSGI VFSAPRNRSP PPGTAPTPGP SSAQDSPSSP
IYASISHANP SSRKPLDTHL ALVNQHPIGP FPRVQSPPHL KSPPAETPGA GACLPPPSPS
EHPDAVGANQ HFVLVEVHRP DSEPDVNEVR ALPQTRTAST LSQLSDSGQT LSEDSGVDAG
ETEASTSGRG RQTASAKNKN GKEQPRTERT AEGANKPPGL LEPTSTLVRV RKSAATLGIA
IEGGANTRQP LPRIVTIQRG GSAHNCGQLK VGHVILEVNG QTLRGKEHKE AARIIAEAFK
TKERDYIDFL VTEFNVML


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