Q9P202 (WHRN_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Whirlin

Alternative name(s):
Autosomal recessive deafness type 31 protein

Gene names

Name:	WHRN
Synonyms:	DFNB31, KIAA1526

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	907 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	Necessary for elongation and maintenance of inner and outer hair cell stereocilia in the organ of Corti in the inner ear By similarity.
Subunit structure	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. Ref.10 Ref.12
Subcellular location	Cytoplasm By similarity. Cell projection › stereocilium By similarity. Cell projection › growth cone By similarity. Note: 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 (CC). Ref.12
Involvement in disease	Defects in WHRN are the cause of deafness autosomal recessive type 31 (DFNB31) [MIM:607084]. DFNB31 is a form of 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. Ref.7 Ref.8 Ref.9 Defects in WHRN are the cause of Usher syndrome type 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.
Sequence similarities	Contains 3 PDZ (DHR) domains.
Sequence caution	The sequence BAA96050.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.

Ontologies

Keywords
Biological process	Hearing
Cellular component	Cell projection Cytoplasm
Coding sequence diversity	Alternative splicing Polymorphism
Disease	Deafness Non-syndromic deafness Usher syndrome
Domain	Repeat
PTM	Phosphoprotein
Technical term	3D-structure Complete proteome Reference proteome
Gene Ontology (GO)
Biological process	inner ear receptor stereocilium organization Inferred from sequence or structural similarity. Source: UniProtKB retina homeostasis Inferred from mutant phenotype Ref.11. Source: HGNC sensory perception of light stimulus Inferred from mutant phenotype Ref.11. Source: HGNC sensory perception of sound Inferred from mutant phenotype Ref.11. Source: HGNC
Cellular component	cytoplasm Inferred from direct assay Ref.10. Source: HGNC growth cone Inferred from electronic annotation. Source: UniProtKB-SubCell stereocilium Inferred from sequence or structural similarity. Source: UniProtKB
Complete GO annotation...

Alternative products

This entry describes 4 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q9P202-1)

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.

Isoform 2 (identifier: Q9P202-2)

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.

Isoform 3 (identifier: Q9P202-3)

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

Note: No experimental confirmation available.

Isoform 4 (identifier: Q9P202-4)

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

Sequence annotation (Features)

Feature key

Position(s)

Length

Description

Graphical view

Feature identifier

Molecule processing

Chain

1 – 907

907

Whirlin

PRO_0000065968

Regions

Domain

140 – 223

84

PDZ 1

Domain

279 – 361

83

PDZ 2

Domain

816 – 899

84

PDZ 3

Compositional bias

9 – 31

23

Ala/Gly/Ser-rich

Compositional bias

581 – 712

132

Pro-rich

Amino acid modifications

Modified residue

787

1

Phosphoserine Ref.13

Natural variations

Alternative sequence

1 – 383

383

Missing in isoform 3.

VSP_012216

Alternative sequence

1 – 351

351

Missing in isoform 4.

VSP_012217

Alternative sequence

281 – 345

65

NLVLG…EAVRL → SGVGKGGQPLRHRILPPNPE QQSCLEAARRGWFCPGSVFP QVCTEGWCFFFAFLFDLCSV CYNTG in isoform 2.

VSP_012218

Alternative sequence

346 – 907

562

Missing in isoform 2.

VSP_012219

Alternative sequence

352 – 389

38

LILTV…ANSAG → MHGSLEALLFLPQVTLSLAH AHLICSNAQLEMCVFPHR in isoform 4.

VSP_012220

Natural variant

364

1

R → H. Ref.1 Ref.5 Ref.6
Corresponds to variant rs10817610 [ dbSNP | Ensembl ].

VAR_036684

Natural variant

423

1

R → P.
Corresponds to variant rs35003670 [ dbSNP | Ensembl ].

VAR_036685

Natural variant

440

1

A → T.
Corresponds to variant rs4978584 [ dbSNP | Ensembl ].

VAR_020593

Natural variant

443

1

A → S.
Corresponds to variant rs11539662 [ dbSNP | Ensembl ].

VAR_057029

Natural variant

562

1

P → A.
Corresponds to variant rs12339210 [ dbSNP | Ensembl ].

VAR_036686

Natural variant

613

1

M → T. Ref.2 Ref.6
Corresponds to variant rs942519 [ dbSNP | Ensembl ].

VAR_036687

Natural variant

752

1

H → Q. Ref.1 Ref.2 Ref.3 Ref.5 Ref.6
Corresponds to variant rs6478078 [ dbSNP | Ensembl ].

VAR_036688

Natural variant

783

1

V → A. Ref.2 Ref.6
Corresponds to variant rs2274159 [ dbSNP | Ensembl ].

VAR_020594

Natural variant

796

1

N → K.
Corresponds to variant rs2274158 [ dbSNP | Ensembl ].

VAR_020595

Natural variant

813

1

T → M.
Corresponds to variant rs942519 [ dbSNP | Ensembl ].

VAR_020596

Experimental info

Sequence conflict

225

1

P → S in AK056190. Ref.2

Sequence conflict

716

1

G → V in BAB14275. Ref.2

Secondary structure

1

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907

Helix Strand Turn

Details...

Beta strand

139 – 141

3

Beta strand

152 – 158

7

Turn

160 – 163

4

Beta strand

166 – 171

6

Helix

176 – 180

5

Beta strand

188 – 191

4

Helix

201 – 207

7

Beta strand

208 – 213

6

Beta strand

216 – 218

3

Turn

263 – 265

3

Beta strand

275 – 283

9

Beta strand

292 – 295

4

Turn

298 – 301

4

Beta strand

305 – 309

5

Helix

314 – 318

5

Beta strand

325 – 329

5

Helix

339 – 346

8

Beta strand

350 – 357

8

Beta strand

815 – 820

6

Beta strand

823 – 825

3

Beta strand

828 – 831

4

Beta strand

842 – 846

5

Helix

851 – 855

5

Helix

877 – 889

13

Beta strand

894 – 900

7

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified May 18, 2010. Version 3. Checksum: D4E5982606E68A04	FASTA	907	96,586
	10 20 30 40 50 60 MNAPLDGLSV SSSSTGSLGS AAGAGGGGGA GLRLLSANVR QLHQALTALL SEAEREQFTH 70 80 90 100 110 120 CLNAYHARRN VFDLVRTLRV LLDSPVKRRL LPMLRLVIPR SDQLLFDQYT AEGLYLPATT 130 140 150 160 170 180 PYRQPAWGGP DSAGPGEVRL VSLRRAKAHE GLGFSIRGGS EHGVGIYVSL VEPGSLAEKE 190 200 210 220 230 240 GLRVGDQILR VNDKSLARVT HAEAVKALKG SKKLVLSVYS AGRIPGGYVT NHIYTWVDPQ 250 260 270 280 290 300 GRSISPPSGL PQPHGGALRQ QEGDRRSTLH LLQGGDEKKV NLVLGDGRSL GLTIRGGAEY 310 320 330 340 350 360 GLGIYITGVD PGSEAEGSGL KVGDQILEVN GRSFLNILHD EAVRLLKSSR HLILTVKDVG 370 380 390 400 410 420 RLPRARTTVD ETKWIASSRI RETMANSAGF LGDLTTEGIN KPGFYKGPAG SQVTLSSLGN 430 440 450 460 470 480 QTRVLLEEQA RHLLNEQEHA TMAYYLDEYR GGSVSVEALV MALFKLLNTH AKFSLLSEVR 490 500 510 520 530 540 GTISPQDLER FDHLVLRREI ESMKARQPPG PGAGDTYSMV SYSDTGSSTG SHGTSTTVSS 550 560 570 580 590 600 ARNTLDLEET GEAVQGNINA LPDVSVDDVR STSQGLSSFK PLPRPPPLAQ GNDLPLGQPR 610 620 630 640 650 660 KLGREDLQPP SSMPSCSGTV FSAPQNRSPP AGTAPTPGTS SAQDLPSSPI YASVSPANPS 670 680 690 700 710 720 SKRPLDAHLA LVNQHPIGPF PRVQSPPHLK SPSAEATVAG GCLLPPSPSG HPDQTGTNQH 730 740 750 760 770 780 FVMVEVHRPD SEPDVNEVRA LPQTRTASTL SHLSDSGQTL SEDSGVDAGE AEASAPGRGR 790 800 810 820 830 840 QSVSTKSRSS KELPRNERPT DGANKPPGLL EPTSTLVRVK KSAATLGIAI EGGANTRQPL 850 860 870 880 890 900 PRIVTIQRGG SAHNCGQLKV GHVILEVNGL TLRGKEHREA ARIIAEAFKT KDRDYIDFLV TEFNVML
	Isoform 2 [UniParc]. Checksum: 389719C312FA0D37	FASTA	345	37,110
	10 20 30 40 50 60 MNAPLDGLSV SSSSTGSLGS AAGAGGGGGA GLRLLSANVR QLHQALTALL SEAEREQFTH 70 80 90 100 110 120 CLNAYHARRN VFDLVRTLRV LLDSPVKRRL LPMLRLVIPR SDQLLFDQYT AEGLYLPATT 130 140 150 160 170 180 PYRQPAWGGP DSAGPGEVRL VSLRRAKAHE GLGFSIRGGS EHGVGIYVSL VEPGSLAEKE 190 200 210 220 230 240 GLRVGDQILR VNDKSLARVT HAEAVKALKG SKKLVLSVYS AGRIPGGYVT NHIYTWVDPQ 250 260 270 280 290 300 GRSISPPSGL PQPHGGALRQ QEGDRRSTLH LLQGGDEKKV SGVGKGGQPL RHRILPPNPE 310 320 330 340 QQSCLEAARR GWFCPGSVFP QVCTEGWCFF FAFLFDLCSV CYNTG
	Isoform 3 [UniParc]. Checksum: 699AD98C80D3E625	FASTA	524	55,581
	10 20 30 40 50 60 MANSAGFLGD LTTEGINKPG FYKGPAGSQV TLSSLGNQTR VLLEEQARHL LNEQEHATMA 70 80 90 100 110 120 YYLDEYRGGS VSVEALVMAL FKLLNTHAKF SLLSEVRGTI SPQDLERFDH LVLRREIESM 130 140 150 160 170 180 KARQPPGPGA GDTYSMVSYS DTGSSTGSHG TSTTVSSARN TLDLEETGEA VQGNINALPD 190 200 210 220 230 240 VSVDDVRSTS QGLSSFKPLP RPPPLAQGND LPLGQPRKLG REDLQPPSSM PSCSGTVFSA 250 260 270 280 290 300 PQNRSPPAGT APTPGTSSAQ DLPSSPIYAS VSPANPSSKR PLDAHLALVN QHPIGPFPRV 310 320 330 340 350 360 QSPPHLKSPS AEATVAGGCL LPPSPSGHPD QTGTNQHFVM VEVHRPDSEP DVNEVRALPQ 370 380 390 400 410 420 TRTASTLSHL SDSGQTLSED SGVDAGEAEA SAPGRGRQSV STKSRSSKEL PRNERPTDGA 430 440 450 460 470 480 NKPPGLLEPT STLVRVKKSA ATLGIAIEGG ANTRQPLPRI VTIQRGGSAH NCGQLKVGHV 490 500 510 520 ILEVNGLTLR GKEHREAARI IAEAFKTKDR DYIDFLVTEF NVML
	Isoform 4 [UniParc]. Checksum: E462067F57ADED36	FASTA	556	59,260
	10 20 30 40 50 60 MHGSLEALLF LPQVTLSLAH AHLICSNAQL EMCVFPHRFL GDLTTEGINK PGFYKGPAGS 70 80 90 100 110 120 QVTLSSLGNQ TRVLLEEQAR HLLNEQEHAT MAYYLDEYRG GSVSVEALVM ALFKLLNTHA 130 140 150 160 170 180 KFSLLSEVRG TISPQDLERF DHLVLRREIE SMKARQPPGP GAGDTYSMVS YSDTGSSTGS 190 200 210 220 230 240 HGTSTTVSSA RNTLDLEETG EAVQGNINAL PDVSVDDVRS TSQGLSSFKP LPRPPPLAQG 250 260 270 280 290 300 NDLPLGQPRK LGREDLQPPS SMPSCSGTVF SAPQNRSPPA GTAPTPGTSS AQDLPSSPIY 310 320 330 340 350 360 ASVSPANPSS KRPLDAHLAL VNQHPIGPFP RVQSPPHLKS PSAEATVAGG CLLPPSPSGH 370 380 390 400 410 420 PDQTGTNQHF VMVEVHRPDS EPDVNEVRAL PQTRTASTLS HLSDSGQTLS EDSGVDAGEA 430 440 450 460 470 480 EASAPGRGRQ SVSTKSRSSK ELPRNERPTD GANKPPGLLE PTSTLVRVKK SAATLGIAIE 490 500 510 520 530 540 GGANTRQPLP RIVTIQRGGS AHNCGQLKVG HVILEVNGLT LRGKEHREAA RIIAEAFKTK 550 DRDYIDFLVT EFNVML

References

	« Hide 'large scale' referencesShow 'large scale' references »
[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: 10819331] [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: 14702039] [Abstract] 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. BMC Genomics 8:399-399(2007) [PubMed: 17974005] [Abstract] 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: 15164053] [Abstract] 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. Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases 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: 15489334] [Abstract] 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: 11973626] [Abstract] 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: 12833159] [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: 15841483] [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: 16434480] [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: 17171570] [Abstract] 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: 17584769] [Abstract] Cited for: INTERACTION WITH MPP1, SUBCELLULAR LOCATION.
[13]	"Automated phosphoproteome analysis for cultured cancer cells by two-dimensional nanoLC-MS using a calcined titania/C18 biphasic column." Imami K., Sugiyama N., Kyono Y., Tomita M., Ishihama Y. Anal. Sci. 24:161-166(2008) [PubMed: 18187866] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-787, MASS SPECTROMETRY. Tissue: Cervix carcinoma.
[14]	"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.
+	Additional computationally mapped references.

Web resources

Hereditary hearing loss homepage

Gene page

Cross-references

Sequence databases

EMBL
GenBank
DDBJ

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.

IPI

IPI00292748.
IPI00335260.
IPI00382416.
IPI00386465.

PIR

T14765.

RefSeq

NP_001077354.2. NM_001083885.2.
NP_001166896.1. NM_001173425.1.
NP_056219.3. NM_015404.3.

UniGene

Hs.93836.

3D structure databases

PDBe
RCSB PDB
PDBj

Entry	Method	Resolution (Å)	Chain	Positions	PDBsum
1UEZ	NMR	-	A	136-224	[»]
1UF1	NMR	-	A	263-378	[»]
1UFX	NMR	-	A	815-904	[»]

ProteinModelPortal

Q9P202.

SMR

Q9P202. Positions 42-378, 813-904.

ModBase

Search...

Protein-protein interaction databases

IntAct

Q9P202. 3 interactions.

STRING

Q9P202.

PTM databases

PhosphoSite

Q9P202.

Polymorphism databases

DMDM

296453079.

Proteomic databases

PRIDE

Q9P202.

Protocols and materials databases

StructuralBiologyKnowledgebase

Search...

Genome annotation databases

Ensembl

ENST00000362057; ENSP00000354623; ENSG00000095397.

GeneID

25861.

KEGG

hsa:25861.

UCSC

uc004bjb.2. human.

Organism-specific databases

CTD

25861.

GeneCards

GC09M117164.

H-InvDB

HIX0008320.

HGNC

HGNC:16361. DFNB31.

HPA

CAB033194.
HPA002386.
HPA002480.

MIM

607084. phenotype.
607928. gene.
611383. phenotype.

neXtProt

NX_Q9P202.

Orphanet

90636. Autosomal recessive nonsyndromic sensorineural deafness type DFNB.
231178. Usher syndrome type 2.

HUGE

Search...

GenAtlas

Search...

Phylogenomic databases

eggNOG

prNOG14616.

GeneTree

ENSGT00530000063178.

HOVERGEN

HBG056634.

InParanoid

Q9P202.

OMA

HARTTVD.

PhylomeDB

Q9P202.

Gene expression databases

ArrayExpress

Q9P202.

Bgee

Q9P202.

CleanEx

HS_DFNB31.

Genevestigator

Q9P202.

GermOnline

ENSG00000095397. Homo sapiens.

Family and domain databases

InterPro

IPR001478. PDZ/DHR/GLGF.
[Graphical view]

Pfam

PF00595. PDZ. 3 hits.
[Graphical view]

SMART

SM00228. PDZ. 3 hits.
[Graphical view]

SUPFAM

SSF50156. PDZ. 3 hits.

PROSITE

PS50106. PDZ. 3 hits.
[Graphical view]

ProtoNet

Search...

Other

NextBio

47225.

SOURCE

Search...

Entry information

Entry name

WHRN_HUMAN

Accession

Primary (citable) accession number: Q9P202
Secondary accession number(s): A5PKU1 , A5PKZ9, Q5TAU9, Q5TAV0, Q5TAV1, Q5TAV2, Q96MZ9, Q9H9F4, Q9UFZ3

Entry history

Integrated into UniProtKB/Swiss-Prot:	December 7, 2004
Last sequence update:	May 18, 2010
Last modified:	January 25, 2012
This is version 102 of the entry and version 3 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.