Q80VW5 (WHRN_MOUSE) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Whirlin

Gene names

Name:	Dfnb31
Synonyms:	Kiaa1526, Whrn

Organism

Mus musculus (Mouse) [Reference proteome]

Taxonomic identifier

10090 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Glires › Rodentia › Sciurognathi › Muroidea › Muridae › Murinae › Mus › Mus

Protein attributes

Sequence length	918 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. Ref.8
Subunit structure	Forms homooligomers. Binds CASK, MPP1/p55 and MYO15A via the C-terminal PDZ domain. Binding to MYO15A is necessary for localization of DFNB31/WHRN to stereocilia tips. Interacts with USH2A, GPR98/MASS1 and LRRC4C/NGL1. Interacts with RPGR. Interacts with EPS8. Ref.1 Ref.2 Ref.9 Ref.10 Ref.11 Ref.13 Ref.14
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. Co-localizes 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). Ref.1 Ref.8 Ref.9 Ref.13
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. Ref.2 Ref.7 Ref.8
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. Ref.8
Involvement in disease	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. Ref.6 Ref.7 Ref.12
Sequence similarities	Contains 3 PDZ (DHR) domains.

Ontologies

Keywords
Biological process	Hearing
Cellular component	Cell projection Cytoplasm
Coding sequence diversity	Alternative splicing
Disease	Deafness
Domain	Repeat
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	inner ear receptor stereocilium organization Inferred from mutant phenotype Ref.6Ref.12. Source: UniProtKB retina homeostasis Inferred from electronic annotation. Source: Compara sensory perception of light stimulus Inferred from electronic annotation. Source: Compara sensory perception of sound Inferred from mutant phenotype Ref.7. Source: MGI
Cellular_component	actin filament Inferred from direct assay Ref.7. Source: MGI cilium Inferred from direct assay Ref.7. Source: MGI cytoplasm Inferred from electronic annotation. Source: UniProtKB-SubCell growth cone Inferred from electronic annotation. Source: UniProtKB-SubCell stereocilia ankle link complex Inferred from direct assay PubMed 17567809. Source: MGI stereocilium Inferred from direct assay Ref.9Ref.8Ref.1. Source: UniProtKB
Complete GO annotation...

Alternative products

This entry describes 12 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q80VW5-1)

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: Q80VW5-2)

The sequence of this isoform differs from the canonical sequence as follows:
     390-390: G → GSGLR
     544-554: Missing.

Isoform 3 (identifier: Q80VW5-3)

The sequence of this isoform differs from the canonical sequence as follows:
     544-554: Missing.

Note: Major isoform.

Isoform 4 (identifier: Q80VW5-4)

The sequence of this isoform differs from the canonical sequence as follows:
     544-554: Missing.
     758-758: Missing.

Isoform 5 (identifier: Q80VW5-5)

The sequence of this isoform differs from the canonical sequence as follows:
     1-357: Missing.
     358-402: KDVGRLPHAR...GDHTEEGTSK → MTTWCHRPRV...SSGLCPSVFQ
     544-554: Missing.

Isoform 6 (identifier: Q80VW5-6)

The sequence of this isoform differs from the canonical sequence as follows:
     1-442: Missing.

Isoform 7 (identifier: Q80VW5-7)

The sequence of this isoform differs from the canonical sequence as follows:
     1-442: Missing.
     544-554: Missing.

Isoform 8 (identifier: Q80VW5-8)

The sequence of this isoform differs from the canonical sequence as follows:
     1-503: Missing.
     544-554: Missing.

Isoform 9 (identifier: Q80VW5-9)

The sequence of this isoform differs from the canonical sequence as follows:
     1-552: Missing.

Isoform 10 (identifier: Q80VW5-10)

The sequence of this isoform differs from the canonical sequence as follows:
     544-571: ERLLWLIDLMENTLDLEGTGETTQGSTN → VSHPCPILGEKVRARIRCFPPKPRVPHL
     572-918: Missing.

Note: No experimental confirmation available.

Isoform 11 (identifier: Q80VW5-11)

Also known as: WhirlinNT2;

The sequence of this isoform differs from the canonical sequence as follows:
     555-566: NTLDLEGTGETT → VPSFCRGRLGVP
     567-918: Missing.

Note: May be due to intron retention.

Isoform 12 (identifier: Q80VW5-12)

Also known as: WhirlinNT1;

The sequence of this isoform differs from the canonical sequence as follows:
     323-918: Missing.

Note: May be due to intron retention.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 918	918	Whirlin		PRO_0000065969
Regions
	Domain	141 – 224	84	PDZ 1
	Domain	280 – 362	83	PDZ 2
	Domain	827 – 910	84	PDZ 3
	Compositional bias	9 – 32	24	Ala/Gly/Ser-rich
	Compositional bias	584 – 723	140	Pro-rich
Natural variations
	Alternative sequence	1 – 552	552	Missing in isoform 9.		VSP_029934
	Alternative sequence	1 – 503	503	Missing in isoform 8.		VSP_029935
	Alternative sequence	1 – 442	442	Missing in isoform 6 and isoform 7.		VSP_029936
	Alternative sequence	1 – 357	357	Missing in isoform 5.		VSP_029937
	Alternative sequence	323 – 918	596	Missing in isoform 12.		VSP_045293
	Alternative sequence	358 – 402	45	KDVGR…EGTSK → MTTWCHRPRVRWSGSCVCGD HQHNARSHSLPRSLDSSGLC PSVFQ in isoform 5.		VSP_029938
	Alternative sequence	390	1	G → GSGLR in isoform 2.		VSP_029939
	Alternative sequence	544 – 571	28	ERLLW…QGSTN → VSHPCPILGEKVRARIRCFP PKPRVPHL in isoform 10.		VSP_029940
	Alternative sequence	544 – 554	11	Missing in isoform 2, isoform 3, isoform 4, isoform 5, isoform 7 and isoform 8.		VSP_029941
	Alternative sequence	555 – 566	12	NTLDL…TGETT → VPSFCRGRLGVP in isoform 11.		VSP_045294
	Alternative sequence	567 – 918	352	Missing in isoform 11.		VSP_045295
	Alternative sequence	572 – 918	347	Missing in isoform 10.		VSP_029942
	Alternative sequence	758	1	Missing in isoform 4.		VSP_029943
Experimental info
	Sequence conflict	504	1	M → V in BAE34281. Ref.3

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified December 4, 2007. Version 3. Checksum: 7D5EA44DE0645AA4	FASTA	918	98,012
	10 20 30 40 50 60 MNAQLDGLSV SSSSTGSLGS AAAAAGGGGG AGLRLLSANV RQLHQALTAL LSEPEREQFT 70 80 90 100 110 120 HCLNAYHARR NVFDLVRTLR VLLDSPVKRR LLPMLRLVIP RSDQLLFDQY TAEGLYLPAT 130 140 150 160 170 180 TPYRQPAWAA PDGAGPGEVR LVSLRRAKAH EGLGFSIRGG SEHGVGIYVS LVEPGSLAEK 190 200 210 220 230 240 EGLRVGDQIL RVNDKSLARV THAEAVKALK GSKKLVLSVY SAGRIPGGYV TNHIYTWVDP 250 260 270 280 290 300 QGRSTSPPSS LPQPHGSTLR QREDDRRSTL HLLQSGDEKK VNLVLGDGRS LGLTIRGGAE 310 320 330 340 350 360 YGLGIYITGV DPGSEAESSG LKVGDQILEV NGRSFLNILH DEAVKLLKSS RHLILTVKDV 370 380 390 400 410 420 GRLPHARTTV DQTKWIASSR IGESVANSAG FPGDHTEEGT SKPGFYKGPA GSQVTLSSLG 430 440 450 460 470 480 NQTRALLDDQ ARHLLTEQER ATMMYYLAQY RGGTISVEAM VMALFELLNT HAKFSLLSEV 490 500 510 520 530 540 RSIISPQDLD RFDHLVLRRE IESMKARQPP GPGVGDTYSM VSYSDTGSST GSHGTSTTVS 550 560 570 580 590 600 SARERLLWLI DLMENTLDLE GTGETTQGST NALPDVSVDD VKSPSEDLPG IKPPPPPPPL 610 620 630 640 650 660 AQGHDRLLGQ PRKPGREDPA PLSSAAHSGI VFSAPRNRSP PPGTAPTPGP SSAQDSPSSP 670 680 690 700 710 720 IYASISHANP SSRKPLDTHL ALVNQHPIGP FPRVQSPPHL KSPPAETPGA GACLPPPSPS 730 740 750 760 770 780 EHPDAVGANQ HFVLVEVHRP DSEPDVNEVR ALPQTRTAST LSQLSDSGQT LSEDSGVDAG 790 800 810 820 830 840 ETEASTSGRG RQTASAKNKN GKEQPRTERT AEGANKPPGL LEPTSTLVRV RKSAATLGIA 850 860 870 880 890 900 IEGGANTRQP LPRIVTIQRG GSAHNCGQLK VGHVILEVNG QTLRGKEHKE AARIIAEAFK 910 TKERDYIDFL VTEFNVML
	Isoform 2 [UniParc]. Checksum: 3195E2DB7907E92F	FASTA	911	97,013
	10 20 30 40 50 60 MNAQLDGLSV SSSSTGSLGS AAAAAGGGGG AGLRLLSANV RQLHQALTAL LSEPEREQFT 70 80 90 100 110 120 HCLNAYHARR NVFDLVRTLR VLLDSPVKRR LLPMLRLVIP RSDQLLFDQY TAEGLYLPAT 130 140 150 160 170 180 TPYRQPAWAA PDGAGPGEVR LVSLRRAKAH EGLGFSIRGG SEHGVGIYVS LVEPGSLAEK 190 200 210 220 230 240 EGLRVGDQIL RVNDKSLARV THAEAVKALK GSKKLVLSVY SAGRIPGGYV TNHIYTWVDP 250 260 270 280 290 300 QGRSTSPPSS LPQPHGSTLR QREDDRRSTL HLLQSGDEKK VNLVLGDGRS LGLTIRGGAE 310 320 330 340 350 360 YGLGIYITGV DPGSEAESSG LKVGDQILEV NGRSFLNILH DEAVKLLKSS RHLILTVKDV 370 380 390 400 410 420 GRLPHARTTV DQTKWIASSR IGESVANSAG SGLRFPGDHT EEGTSKPGFY KGPAGSQVTL 430 440 450 460 470 480 SSLGNQTRAL LDDQARHLLT EQERATMMYY LAQYRGGTIS VEAMVMALFE LLNTHAKFSL 490 500 510 520 530 540 LSEVRSIISP QDLDRFDHLV LRREIESMKA RQPPGPGVGD TYSMVSYSDT GSSTGSHGTS 550 560 570 580 590 600 TTVSSARNTL DLEGTGETTQ GSTNALPDVS VDDVKSPSED LPGIKPPPPP PPLAQGHDRL 610 620 630 640 650 660 LGQPRKPGRE DPAPLSSAAH SGIVFSAPRN RSPPPGTAPT PGPSSAQDSP SSPIYASISH 670 680 690 700 710 720 ANPSSRKPLD THLALVNQHP IGPFPRVQSP PHLKSPPAET PGAGACLPPP SPSEHPDAVG 730 740 750 760 770 780 ANQHFVLVEV HRPDSEPDVN EVRALPQTRT ASTLSQLSDS GQTLSEDSGV DAGETEASTS 790 800 810 820 830 840 GRGRQTASAK NKNGKEQPRT ERTAEGANKP PGLLEPTSTL VRVRKSAATL GIAIEGGANT 850 860 870 880 890 900 RQPLPRIVTI QRGGSAHNCG QLKVGHVILE VNGQTLRGKE HKEAARIIAE AFKTKERDYI 910 DFLVTEFNVM L
	Isoform 3 [UniParc]. Checksum: C23C5823AE9BD457	FASTA	907	96,600
	10 20 30 40 50 60 MNAQLDGLSV SSSSTGSLGS AAAAAGGGGG AGLRLLSANV RQLHQALTAL LSEPEREQFT 70 80 90 100 110 120 HCLNAYHARR NVFDLVRTLR VLLDSPVKRR LLPMLRLVIP RSDQLLFDQY TAEGLYLPAT 130 140 150 160 170 180 TPYRQPAWAA PDGAGPGEVR LVSLRRAKAH EGLGFSIRGG SEHGVGIYVS LVEPGSLAEK 190 200 210 220 230 240 EGLRVGDQIL RVNDKSLARV THAEAVKALK GSKKLVLSVY SAGRIPGGYV TNHIYTWVDP 250 260 270 280 290 300 QGRSTSPPSS LPQPHGSTLR QREDDRRSTL HLLQSGDEKK VNLVLGDGRS LGLTIRGGAE 310 320 330 340 350 360 YGLGIYITGV DPGSEAESSG LKVGDQILEV NGRSFLNILH DEAVKLLKSS RHLILTVKDV 370 380 390 400 410 420 GRLPHARTTV DQTKWIASSR IGESVANSAG FPGDHTEEGT SKPGFYKGPA GSQVTLSSLG 430 440 450 460 470 480 NQTRALLDDQ ARHLLTEQER ATMMYYLAQY RGGTISVEAM VMALFELLNT HAKFSLLSEV 490 500 510 520 530 540 RSIISPQDLD RFDHLVLRRE IESMKARQPP GPGVGDTYSM VSYSDTGSST GSHGTSTTVS 550 560 570 580 590 600 SARNTLDLEG TGETTQGSTN ALPDVSVDDV KSPSEDLPGI KPPPPPPPLA QGHDRLLGQP 610 620 630 640 650 660 RKPGREDPAP LSSAAHSGIV FSAPRNRSPP PGTAPTPGPS SAQDSPSSPI YASISHANPS 670 680 690 700 710 720 SRKPLDTHLA LVNQHPIGPF PRVQSPPHLK SPPAETPGAG ACLPPPSPSE HPDAVGANQH 730 740 750 760 770 780 FVLVEVHRPD SEPDVNEVRA LPQTRTASTL SQLSDSGQTL SEDSGVDAGE TEASTSGRGR 790 800 810 820 830 840 QTASAKNKNG KEQPRTERTA EGANKPPGLL EPTSTLVRVR KSAATLGIAI EGGANTRQPL 850 860 870 880 890 900 PRIVTIQRGG SAHNCGQLKV GHVILEVNGQ TLRGKEHKEA ARIIAEAFKT KERDYIDFLV TEFNVML
	Isoform 4 [UniParc]. Checksum: F96EFC6C1DF9D029	FASTA	906	96,528
	10 20 30 40 50 60 MNAQLDGLSV SSSSTGSLGS AAAAAGGGGG AGLRLLSANV RQLHQALTAL LSEPEREQFT 70 80 90 100 110 120 HCLNAYHARR NVFDLVRTLR VLLDSPVKRR LLPMLRLVIP RSDQLLFDQY TAEGLYLPAT 130 140 150 160 170 180 TPYRQPAWAA PDGAGPGEVR LVSLRRAKAH EGLGFSIRGG SEHGVGIYVS LVEPGSLAEK 190 200 210 220 230 240 EGLRVGDQIL RVNDKSLARV THAEAVKALK GSKKLVLSVY SAGRIPGGYV TNHIYTWVDP 250 260 270 280 290 300 QGRSTSPPSS LPQPHGSTLR QREDDRRSTL HLLQSGDEKK VNLVLGDGRS LGLTIRGGAE 310 320 330 340 350 360 YGLGIYITGV DPGSEAESSG LKVGDQILEV NGRSFLNILH DEAVKLLKSS RHLILTVKDV 370 380 390 400 410 420 GRLPHARTTV DQTKWIASSR IGESVANSAG FPGDHTEEGT SKPGFYKGPA GSQVTLSSLG 430 440 450 460 470 480 NQTRALLDDQ ARHLLTEQER ATMMYYLAQY RGGTISVEAM VMALFELLNT HAKFSLLSEV 490 500 510 520 530 540 RSIISPQDLD RFDHLVLRRE IESMKARQPP GPGVGDTYSM VSYSDTGSST GSHGTSTTVS 550 560 570 580 590 600 SARNTLDLEG TGETTQGSTN ALPDVSVDDV KSPSEDLPGI KPPPPPPPLA QGHDRLLGQP 610 620 630 640 650 660 RKPGREDPAP LSSAAHSGIV FSAPRNRSPP PGTAPTPGPS SAQDSPSSPI YASISHANPS 670 680 690 700 710 720 SRKPLDTHLA LVNQHPIGPF PRVQSPPHLK SPPAETPGAG ACLPPPSPSE HPDAVGANQH 730 740 750 760 770 780 FVLVEVHRPD SEPDVNEVRA LPQTRTSTLS QLSDSGQTLS EDSGVDAGET EASTSGRGRQ 790 800 810 820 830 840 TASAKNKNGK EQPRTERTAE GANKPPGLLE PTSTLVRVRK SAATLGIAIE GGANTRQPLP 850 860 870 880 890 900 RIVTIQRGGS AHNCGQLKVG HVILEVNGQT LRGKEHKEAA RIIAEAFKTK ERDYIDFLVT EFNVML
	Isoform 5 [UniParc]. Checksum: FB4D9E8BDD6DD09B	FASTA	550	58,669
	10 20 30 40 50 60 MTTWCHRPRV RWSGSCVCGD HQHNARSHSL PRSLDSSGLC PSVFQPGFYK GPAGSQVTLS 70 80 90 100 110 120 SLGNQTRALL DDQARHLLTE QERATMMYYL AQYRGGTISV EAMVMALFEL LNTHAKFSLL 130 140 150 160 170 180 SEVRSIISPQ DLDRFDHLVL RREIESMKAR QPPGPGVGDT YSMVSYSDTG SSTGSHGTST 190 200 210 220 230 240 TVSSARNTLD LEGTGETTQG STNALPDVSV DDVKSPSEDL PGIKPPPPPP PLAQGHDRLL 250 260 270 280 290 300 GQPRKPGRED PAPLSSAAHS GIVFSAPRNR SPPPGTAPTP GPSSAQDSPS SPIYASISHA 310 320 330 340 350 360 NPSSRKPLDT HLALVNQHPI GPFPRVQSPP HLKSPPAETP GAGACLPPPS PSEHPDAVGA 370 380 390 400 410 420 NQHFVLVEVH RPDSEPDVNE VRALPQTRTA STLSQLSDSG QTLSEDSGVD AGETEASTSG 430 440 450 460 470 480 RGRQTASAKN KNGKEQPRTE RTAEGANKPP GLLEPTSTLV RVRKSAATLG IAIEGGANTR 490 500 510 520 530 540 QPLPRIVTIQ RGGSAHNCGQ LKVGHVILEV NGQTLRGKEH KEAARIIAEA FKTKERDYID 550 FLVTEFNVML
	Isoform 6 [UniParc]. Checksum: BDA13DA400C3E0F4	FASTA	476	50,709
	10 20 30 40 50 60 MMYYLAQYRG GTISVEAMVM ALFELLNTHA KFSLLSEVRS IISPQDLDRF DHLVLRREIE 70 80 90 100 110 120 SMKARQPPGP GVGDTYSMVS YSDTGSSTGS HGTSTTVSSA RERLLWLIDL MENTLDLEGT 130 140 150 160 170 180 GETTQGSTNA LPDVSVDDVK SPSEDLPGIK PPPPPPPLAQ GHDRLLGQPR KPGREDPAPL 190 200 210 220 230 240 SSAAHSGIVF SAPRNRSPPP GTAPTPGPSS AQDSPSSPIY ASISHANPSS RKPLDTHLAL 250 260 270 280 290 300 VNQHPIGPFP RVQSPPHLKS PPAETPGAGA CLPPPSPSEH PDAVGANQHF VLVEVHRPDS 310 320 330 340 350 360 EPDVNEVRAL PQTRTASTLS QLSDSGQTLS EDSGVDAGET EASTSGRGRQ TASAKNKNGK 370 380 390 400 410 420 EQPRTERTAE GANKPPGLLE PTSTLVRVRK SAATLGIAIE GGANTRQPLP RIVTIQRGGS 430 440 450 460 470 AHNCGQLKVG HVILEVNGQT LRGKEHKEAA RIIAEAFKTK ERDYIDFLVT EFNVML
	Isoform 7 [UniParc]. Checksum: 5EE7EB675198EBE2	FASTA	465	49,296
	10 20 30 40 50 60 MMYYLAQYRG GTISVEAMVM ALFELLNTHA KFSLLSEVRS IISPQDLDRF DHLVLRREIE 70 80 90 100 110 120 SMKARQPPGP GVGDTYSMVS YSDTGSSTGS HGTSTTVSSA RNTLDLEGTG ETTQGSTNAL 130 140 150 160 170 180 PDVSVDDVKS PSEDLPGIKP PPPPPPLAQG HDRLLGQPRK PGREDPAPLS SAAHSGIVFS 190 200 210 220 230 240 APRNRSPPPG TAPTPGPSSA QDSPSSPIYA SISHANPSSR KPLDTHLALV NQHPIGPFPR 250 260 270 280 290 300 VQSPPHLKSP PAETPGAGAC LPPPSPSEHP DAVGANQHFV LVEVHRPDSE PDVNEVRALP 310 320 330 340 350 360 QTRTASTLSQ LSDSGQTLSE DSGVDAGETE ASTSGRGRQT ASAKNKNGKE QPRTERTAEG 370 380 390 400 410 420 ANKPPGLLEP TSTLVRVRKS AATLGIAIEG GANTRQPLPR IVTIQRGGSA HNCGQLKVGH 430 440 450 460 VILEVNGQTL RGKEHKEAAR IIAEAFKTKE RDYIDFLVTE FNVML
	Isoform 8 [UniParc]. Checksum: 47E37E2D1D9647EE	FASTA	404	42,208
	10 20 30 40 50 60 MKARQPPGPG VGDTYSMVSY SDTGSSTGSH GTSTTVSSAR NTLDLEGTGE TTQGSTNALP 70 80 90 100 110 120 DVSVDDVKSP SEDLPGIKPP PPPPPLAQGH DRLLGQPRKP GREDPAPLSS AAHSGIVFSA 130 140 150 160 170 180 PRNRSPPPGT APTPGPSSAQ DSPSSPIYAS ISHANPSSRK PLDTHLALVN QHPIGPFPRV 190 200 210 220 230 240 QSPPHLKSPP AETPGAGACL PPPSPSEHPD AVGANQHFVL VEVHRPDSEP DVNEVRALPQ 250 260 270 280 290 300 TRTASTLSQL SDSGQTLSED SGVDAGETEA STSGRGRQTA SAKNKNGKEQ PRTERTAEGA 310 320 330 340 350 360 NKPPGLLEPT STLVRVRKSA ATLGIAIEGG ANTRQPLPRI VTIQRGGSAH NCGQLKVGHV 370 380 390 400 ILEVNGQTLR GKEHKEAARI IAEAFKTKER DYIDFLVTEF NVML
	Isoform 9 [UniParc]. Checksum: 4EECE4260B616897	FASTA	366	38,480
	10 20 30 40 50 60 MENTLDLEGT GETTQGSTNA LPDVSVDDVK SPSEDLPGIK PPPPPPPLAQ GHDRLLGQPR 70 80 90 100 110 120 KPGREDPAPL SSAAHSGIVF SAPRNRSPPP GTAPTPGPSS AQDSPSSPIY ASISHANPSS 130 140 150 160 170 180 RKPLDTHLAL VNQHPIGPFP RVQSPPHLKS PPAETPGAGA CLPPPSPSEH PDAVGANQHF 190 200 210 220 230 240 VLVEVHRPDS EPDVNEVRAL PQTRTASTLS QLSDSGQTLS EDSGVDAGET EASTSGRGRQ 250 260 270 280 290 300 TASAKNKNGK EQPRTERTAE GANKPPGLLE PTSTLVRVRK SAATLGIAIE GGANTRQPLP 310 320 330 340 350 360 RIVTIQRGGS AHNCGQLKVG HVILEVNGQT LRGKEHKEAA RIIAEAFKTK ERDYIDFLVT EFNVML
	Isoform 10 [UniParc]. Checksum: B1B7F2811EF53A9D	FASTA	571	61,584
	10 20 30 40 50 60 MNAQLDGLSV SSSSTGSLGS AAAAAGGGGG AGLRLLSANV RQLHQALTAL LSEPEREQFT 70 80 90 100 110 120 HCLNAYHARR NVFDLVRTLR VLLDSPVKRR LLPMLRLVIP RSDQLLFDQY TAEGLYLPAT 130 140 150 160 170 180 TPYRQPAWAA PDGAGPGEVR LVSLRRAKAH EGLGFSIRGG SEHGVGIYVS LVEPGSLAEK 190 200 210 220 230 240 EGLRVGDQIL RVNDKSLARV THAEAVKALK GSKKLVLSVY SAGRIPGGYV TNHIYTWVDP 250 260 270 280 290 300 QGRSTSPPSS LPQPHGSTLR QREDDRRSTL HLLQSGDEKK VNLVLGDGRS LGLTIRGGAE 310 320 330 340 350 360 YGLGIYITGV DPGSEAESSG LKVGDQILEV NGRSFLNILH DEAVKLLKSS RHLILTVKDV 370 380 390 400 410 420 GRLPHARTTV DQTKWIASSR IGESVANSAG FPGDHTEEGT SKPGFYKGPA GSQVTLSSLG 430 440 450 460 470 480 NQTRALLDDQ ARHLLTEQER ATMMYYLAQY RGGTISVEAM VMALFELLNT HAKFSLLSEV 490 500 510 520 530 540 RSIISPQDLD RFDHLVLRRE IESMKARQPP GPGVGDTYSM VSYSDTGSST GSHGTSTTVS 550 560 570 SARVSHPCPI LGEKVRARIR CFPPKPRVPH L
	Isoform 11 (WhirlinNT2) [UniParc]. Checksum: 4EEDB18EC7979658	FASTA	566	61,080
	10 20 30 40 50 60 MNAQLDGLSV SSSSTGSLGS AAAAAGGGGG AGLRLLSANV RQLHQALTAL LSEPEREQFT 70 80 90 100 110 120 HCLNAYHARR NVFDLVRTLR VLLDSPVKRR LLPMLRLVIP RSDQLLFDQY TAEGLYLPAT 130 140 150 160 170 180 TPYRQPAWAA PDGAGPGEVR LVSLRRAKAH EGLGFSIRGG SEHGVGIYVS LVEPGSLAEK 190 200 210 220 230 240 EGLRVGDQIL RVNDKSLARV THAEAVKALK GSKKLVLSVY SAGRIPGGYV TNHIYTWVDP 250 260 270 280 290 300 QGRSTSPPSS LPQPHGSTLR QREDDRRSTL HLLQSGDEKK VNLVLGDGRS LGLTIRGGAE 310 320 330 340 350 360 YGLGIYITGV DPGSEAESSG LKVGDQILEV NGRSFLNILH DEAVKLLKSS RHLILTVKDV 370 380 390 400 410 420 GRLPHARTTV DQTKWIASSR IGESVANSAG FPGDHTEEGT SKPGFYKGPA GSQVTLSSLG 430 440 450 460 470 480 NQTRALLDDQ ARHLLTEQER ATMMYYLAQY RGGTISVEAM VMALFELLNT HAKFSLLSEV 490 500 510 520 530 540 RSIISPQDLD RFDHLVLRRE IESMKARQPP GPGVGDTYSM VSYSDTGSST GSHGTSTTVS 550 560 SARERLLWLI DLMEVPSFCR GRLGVP
	Isoform 12 (WhirlinNT1) [UniParc]. Checksum: 7DC71EAD135F55ED	FASTA	322	34,324
	10 20 30 40 50 60 MNAQLDGLSV SSSSTGSLGS AAAAAGGGGG AGLRLLSANV RQLHQALTAL LSEPEREQFT 70 80 90 100 110 120 HCLNAYHARR NVFDLVRTLR VLLDSPVKRR LLPMLRLVIP RSDQLLFDQY TAEGLYLPAT 130 140 150 160 170 180 TPYRQPAWAA PDGAGPGEVR LVSLRRAKAH EGLGFSIRGG SEHGVGIYVS LVEPGSLAEK 190 200 210 220 230 240 EGLRVGDQIL RVNDKSLARV THAEAVKALK GSKKLVLSVY SAGRIPGGYV TNHIYTWVDP 250 260 270 280 290 300 QGRSTSPPSS LPQPHGSTLR QREDDRRSTL HLLQSGDEKK VNLVLGDGRS LGLTIRGGAE 310 320 YGLGIYITGV DPGSEAESSG LK

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Myosin-XVa is required for tip localization of whirlin and differential elongation of hair-cell stereocilia." Belyantseva I.A., Boger E.T., Naz S., Frolenkov G.I., Sellers J.R., Ahmed Z.M., Griffith A.J., Friedman T.B. Nat. Cell Biol. 7:148-156(2005) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1; 2; 3; 4; 5; 6; 7; 8 AND 9), INTERACTION WITH MYO15A, SUBCELLULAR LOCATION. Strain: C57BL/6. Tissue: Inner ear.
[2]	"RpgrORF15 connects to the usher protein network through direct interactions with multiple whirlin isoforms." Wright R.N., Hong D.H., Perkins B. Invest. Ophthalmol. Vis. Sci. 53:1519-1529(2012) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 11 AND 12), INTERACTION WITH RPGR, TISSUE SPECIFICITY. Strain: C57BL/6. Tissue: Retina.
[3]	"The transcriptional landscape of the mammalian genome." 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. Science 309:1559-1563(2005) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 10). Strain: C57BL/6J. Tissue: Inner ear.
[4]	"Lineage-specific biology revealed by a finished genome assembly of the mouse." 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. PLoS Biol. 7:E1000112-E1000112(2009) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. Strain: C57BL/6J.
[5]	"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." Okazaki N., Kikuno R., Ohara R., Inamoto S., Aizawa H., Yuasa S., Nakajima D., Nagase T., Ohara O., Koga H. DNA Res. 10:35-48(2003) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 38-918 (ISOFORM 4). Tissue: Brain.
[6]	"Elongation of hair cell stereocilia is defective in the mouse mutant whirler." Holme R.H., Kiernan B.W., Brown S.D.M., Steel K.P. J. Comp. Neurol. 450:94-102(2002) [PubMed] [Europe PMC] [Abstract] Cited for: DISEASE.
[7]	"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] [Europe PMC] [Abstract] Cited for: DISEASE, ALTERNATIVE SPLICING, TISSUE SPECIFICITY.
[8]	"Mutant analysis reveals whirlin as a dynamic organizer in the growing hair cell stereocilium." Kikkawa Y., Mburu P., Morse S., Kominami R., Townsend S., Brown S.D.M. Hum. Mol. Genet. 14:391-400(2005) [PubMed] [Europe PMC] [Abstract] Cited for: FUNCTION, SUBCELLULAR LOCATION, TISSUE SPECIFICITY, DEVELOPMENTAL STAGE.
[9]	"Myosin XVa and whirlin, two deafness gene products required for hair bundle growth, are located at the stereocilia tips and interact directly." Delprat B., Michel V., Goodyear R., Yamasaki Y., Michalski N., El-Amraoui A., Perfettini I., Legrain P., Richardson G., Hardelin J.-P., Petit C. Hum. Mol. Genet. 14:401-410(2005) [PubMed] [Europe PMC] [Abstract] Cited for: SUBUNIT, INTERACTION WITH LRRC4C; MYO7A AND MYO15A, SUBCELLULAR LOCATION.
[10]	"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." Adato A., Lefevre G., Delprat B., Michel V., Michalski N., Chardenoux S., Weil D., El-Amraoui A., Petit C. Hum. Mol. Genet. 14:3921-3932(2005) [PubMed] [Europe PMC] [Abstract] Cited for: INTERACTION WITH USH2A.
[11]	"Whirlin complexes with p55 at the stereocilia tip during hair cell development." Mburu P., Kikkawa Y., Townsend S., Romero R., Yonekawa H., Brown S.D. Proc. Natl. Acad. Sci. U.S.A. 103:10973-10978(2006) [PubMed] [Europe PMC] [Abstract] Cited for: INTERACTION WITH MPP1.
[12]	"The deaf mouse mutant whirler suggests a role for whirlin in actin filament dynamics and stereocilia development." Mogensen M.M., Rzadzinska A., Steel K.P. Cell Motil. Cytoskeleton 64:496-508(2007) [PubMed] [Europe PMC] [Abstract] Cited for: DISEASE.
[13]	"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] Cited for: INTERACTION WITH MPP1, SUBCELLULAR LOCATION.
[14]	"Regulation of stereocilia length by myosin XVa and whirlin depends on the actin-regulatory protein Eps8." Manor U., Disanza A., Grati M., Andrade L., Lin H., Di Fiore P.P., Scita G., Kachar B. Curr. Biol. 21:167-172(2011) [PubMed] [Europe PMC] [Abstract] Cited for: INTERACTION WITH EPS8.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AY739114 mRNA. Translation: AAV87519.1. AY739115 mRNA. Translation: AAV87520.1. AY739116 mRNA. Translation: AAV87521.1. AY739117 mRNA. Translation: AAV87522.1. AY739118 mRNA. Translation: AAV87523.1. AY739119 mRNA. Translation: AAV87524.1. AY739120 mRNA. Translation: AAV87525.1. AY739121 mRNA. Translation: AAV87526.1. AY739122 mRNA. Translation: AAV87527.1. HQ148552 mRNA. Translation: AEL23234.1. HQ148553 mRNA. Translation: AEL23235.1. AK157955 mRNA. Translation: BAE34281.1. AL683828 Genomic DNA. Translation: CAD62267.1. AL683828 Genomic DNA. Translation: CAD62268.1. AL683828 Genomic DNA. Translation: CAM21546.1. AL683828 Genomic DNA. Translation: CAM21547.1. AL683828 Genomic DNA. Translation: CAM21548.1. AK122523 mRNA. Translation: BAC65805.1.
IPI	IPI00330536. IPI00474346. IPI00551081. IPI00551196. IPI00551262. IPI00551322. IPI00551333. IPI00551381. IPI00551441. IPI00775934.
RefSeq	NP_001008791.1. NM_001008791.2. NP_001008792.1. NM_001008792.2. NP_001008793.1. NM_001008793.2. NP_001008794.1. NM_001008794.1. NP_001008795.1. NM_001008795.1. NP_001008796.1. NM_001008796.1. NP_001008797.1. NM_001008797.1. NP_001008798.1. NM_001008798.1. NP_001263300.1. NM_001276371.1. NP_082916.1. NM_028640.2.
UniGene	Mm.300397.
3D structure databases
ProteinModelPortal	Q80VW5.
SMR	Q80VW5. Positions 44-379, 824-915.
ModBase	Search...
Protein-protein interaction databases
MINT	MINT-1895268.
PTM databases
PhosphoSite	Q80VW5.
Proteomic databases
PaxDb	Q80VW5.
PRIDE	Q80VW5.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENSMUST00000063650; ENSMUSP00000069664; ENSMUSG00000039137. ENSMUST00000063672; ENSMUSP00000065838; ENSMUSG00000039137. ENSMUST00000084510; ENSMUSP00000081557; ENSMUSG00000039137. ENSMUST00000095037; ENSMUSP00000092647; ENSMUSG00000039137. ENSMUST00000095038; ENSMUSP00000092648; ENSMUSG00000039137. ENSMUST00000102867; ENSMUSP00000099931; ENSMUSG00000039137. ENSMUST00000107393; ENSMUSP00000103016; ENSMUSG00000039137. ENSMUST00000119294; ENSMUSP00000114030; ENSMUSG00000039137.
GeneID	73750.
KEGG	mmu:73750.
UCSC	uc008tgf.1. mouse. uc008tgg.1. mouse. uc008tgh.1. mouse. uc008tgi.1. mouse. uc008tgj.1. mouse. uc008tgk.1. mouse. uc008tgl.1. mouse. uc008tgm.1. mouse. uc008tgn.1. mouse. uc008tgp.1. mouse.
Organism-specific databases
CTD	73750.
MGI	MGI:2682003. Whrn.
Rouge	Search...
Phylogenomic databases
eggNOG	NOG291372.
GeneTree	ENSGT00530000063178.
HOVERGEN	HBG056634.
InParanoid	Q80VW5.
OMA	NILHDEA.
Gene expression databases
Bgee	Q80VW5.
CleanEx	MM_WHRN.
Genevestigator	Q80VW5.
GermOnline	ENSMUSG00000039137. Mus musculus.
Family and domain databases
InterPro	IPR001478. PDZ. [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
ChiTaRS	DFNB31. mouse.
NextBio	338987.
SOURCE	Search...

Entry information

Entry name

WHRN_MOUSE

Accession

Primary (citable) accession number: Q80VW5
Secondary accession number(s): A2AGD2 , I6MML6, I6MML7, Q3TZC8, Q5MLF1, Q5MLF2, Q5MLF3, Q5MLF4, Q5MLF5, Q5MLF6, Q5MLF7, Q5MLF8, Q5MLF9, Q80TC2, Q80VW4

Entry history

Integrated into UniProtKB/Swiss-Prot:	December 7, 2004
Last sequence update:	December 4, 2007
Last modified:	April 3, 2013
This is version 79 of the entry and version 3 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program