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Protein

Whirlin

Gene

WHRN

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Necessary for elongation and maintenance of inner and outer hair cell stereocilia in the organ of Corti in the inner ear.By similarity

GO - Biological processi

  • inner ear receptor stereocilium organization Source: UniProtKB
  • retina homeostasis Source: HGNC
  • sensory perception of light stimulus Source: HGNC
  • sensory perception of sound Source: HGNC
Complete GO annotation...

Keywords - Biological processi

Hearing

Names & Taxonomyi

Protein namesi
Recommended name:
Whirlin
Alternative name(s):
Autosomal recessive deafness type 31 protein
Gene namesi
Name:WHRNImported
Synonyms:DFNB31, KIAA1526
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 9

Organism-specific databases

HGNCiHGNC:16361. WHRN.

Subcellular locationi

GO - Cellular componenti

  • cytoplasm Source: HGNC
  • growth cone Source: UniProtKB-SubCell
  • stereocilium Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Cell projection, Cytoplasm

Pathology & Biotechi

Involvement in diseasei

Deafness, autosomal recessive, 31 (DFNB31)3 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:607084
Usher syndrome 2D (USH2D)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionUSH 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.
See also OMIM:611383

Keywords - Diseasei

Deafness, Non-syndromic deafness, Retinitis pigmentosa, Usher syndrome

Organism-specific databases

DisGeNETi25861.
MalaCardsiDFNB31.
MIMi607084. phenotype.
611383. phenotype.
OpenTargetsiENSG00000095397.
Orphaneti90636. Autosomal recessive non-syndromic sensorineural deafness type DFNB.
231178. Usher syndrome type 2.
PharmGKBiPA27297.

Polymorphism and mutation databases

BioMutaiDFNB31.
DMDMi296453079.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000659681 – 907WhirlinAdd BLAST907

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei685PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ9P202.
MaxQBiQ9P202.
PaxDbiQ9P202.
PeptideAtlasiQ9P202.
PRIDEiQ9P202.

PTM databases

iPTMnetiQ9P202.
PhosphoSitePlusiQ9P202.
SwissPalmiQ9P202.

Expressioni

Gene expression databases

BgeeiENSG00000095397.
CleanExiHS_DFNB31.
ExpressionAtlasiQ9P202. baseline and differential.

Organism-specific databases

HPAiCAB033194.
HPA002386.
HPA002480.

Interactioni

Subunit structurei

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).By similarity3 Publications

Protein-protein interaction databases

BioGridi117381. 1 interactor.
IntActiQ9P202. 4 interactors.
MINTiMINT-3056156.
STRINGi9606.ENSP00000354623.

Structurei

Secondary structure

1907
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Beta strandi139 – 141Combined sources3
Beta strandi152 – 158Combined sources7
Turni160 – 163Combined sources4
Beta strandi166 – 171Combined sources6
Helixi176 – 180Combined sources5
Beta strandi188 – 191Combined sources4
Helixi201 – 207Combined sources7
Beta strandi208 – 213Combined sources6
Beta strandi216 – 218Combined sources3
Turni263 – 265Combined sources3
Beta strandi275 – 283Combined sources9
Beta strandi292 – 295Combined sources4
Turni298 – 301Combined sources4
Beta strandi305 – 309Combined sources5
Helixi314 – 318Combined sources5
Beta strandi325 – 329Combined sources5
Helixi339 – 346Combined sources8
Beta strandi350 – 357Combined sources8
Beta strandi815 – 820Combined sources6
Beta strandi823 – 825Combined sources3
Beta strandi828 – 831Combined sources4
Beta strandi842 – 846Combined sources5
Helixi851 – 855Combined sources5
Helixi877 – 889Combined sources13
Beta strandi894 – 900Combined sources7

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1UEZNMR-A137-224[»]
1UF1NMR-A263-378[»]
1UFXNMR-A815-904[»]
ProteinModelPortaliQ9P202.
SMRiQ9P202.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ9P202.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini140 – 223PDZ 1PROSITE-ProRule annotationAdd BLAST84
Domaini279 – 361PDZ 2PROSITE-ProRule annotationAdd BLAST83
Domaini816 – 899PDZ 3PROSITE-ProRule annotationAdd BLAST84

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi9 – 31Ala/Gly/Ser-richAdd BLAST23
Compositional biasi581 – 712Pro-richAdd BLAST132

Sequence similaritiesi

Contains 3 PDZ (DHR) domains.PROSITE-ProRule annotation

Keywords - Domaini

Repeat

Phylogenomic databases

eggNOGiENOG410ITAG. Eukaryota.
ENOG410XTF7. LUCA.
GeneTreeiENSGT00530000063178.
HOVERGENiHBG056634.
InParanoidiQ9P202.
PhylomeDBiQ9P202.
TreeFamiTF325033.

Family and domain databases

Gene3Di2.30.42.10. 3 hits.
InterProiIPR001478. PDZ.
IPR033028. Whirlin.
[Graphical view]
PANTHERiPTHR23116:SF37. PTHR23116:SF37. 1 hit.
PfamiPF00595. PDZ. 3 hits.
[Graphical view]
SMARTiSM00228. PDZ. 3 hits.
[Graphical view]
SUPFAMiSSF50156. SSF50156. 3 hits.
PROSITEiPS50106. PDZ. 3 hits.
[Graphical view]

Sequences (4)i

Sequence statusi: Complete.

This entry describes 4 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q9P202-1) [UniParc]FASTAAdd to basket

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.

« Hide

        10         20         30         40         50
MNAPLDGLSV SSSSTGSLGS AAGAGGGGGA GLRLLSANVR QLHQALTALL
60 70 80 90 100
SEAEREQFTH CLNAYHARRN VFDLVRTLRV LLDSPVKRRL LPMLRLVIPR
110 120 130 140 150
SDQLLFDQYT AEGLYLPATT PYRQPAWGGP DSAGPGEVRL VSLRRAKAHE
160 170 180 190 200
GLGFSIRGGS EHGVGIYVSL VEPGSLAEKE GLRVGDQILR VNDKSLARVT
210 220 230 240 250
HAEAVKALKG SKKLVLSVYS AGRIPGGYVT NHIYTWVDPQ GRSISPPSGL
260 270 280 290 300
PQPHGGALRQ QEGDRRSTLH LLQGGDEKKV NLVLGDGRSL GLTIRGGAEY
310 320 330 340 350
GLGIYITGVD PGSEAEGSGL KVGDQILEVN GRSFLNILHD EAVRLLKSSR
360 370 380 390 400
HLILTVKDVG RLPRARTTVD ETKWIASSRI RETMANSAGF LGDLTTEGIN
410 420 430 440 450
KPGFYKGPAG SQVTLSSLGN QTRVLLEEQA RHLLNEQEHA TMAYYLDEYR
460 470 480 490 500
GGSVSVEALV MALFKLLNTH AKFSLLSEVR GTISPQDLER FDHLVLRREI
510 520 530 540 550
ESMKARQPPG PGAGDTYSMV SYSDTGSSTG SHGTSTTVSS ARNTLDLEET
560 570 580 590 600
GEAVQGNINA LPDVSVDDVR STSQGLSSFK PLPRPPPLAQ GNDLPLGQPR
610 620 630 640 650
KLGREDLQPP SSMPSCSGTV FSAPQNRSPP AGTAPTPGTS SAQDLPSSPI
660 670 680 690 700
YASVSPANPS SKRPLDAHLA LVNQHPIGPF PRVQSPPHLK SPSAEATVAG
710 720 730 740 750
GCLLPPSPSG HPDQTGTNQH FVMVEVHRPD SEPDVNEVRA LPQTRTASTL
760 770 780 790 800
SHLSDSGQTL SEDSGVDAGE AEASAPGRGR QSVSTKSRSS KELPRNERPT
810 820 830 840 850
DGANKPPGLL EPTSTLVRVK KSAATLGIAI EGGANTRQPL PRIVTIQRGG
860 870 880 890 900
SAHNCGQLKV GHVILEVNGL TLRGKEHREA ARIIAEAFKT KDRDYIDFLV

TEFNVML
Length:907
Mass (Da):96,586
Last modified:May 18, 2010 - v3
Checksum:iD4E5982606E68A04
GO
Isoform 2 (identifier: Q9P202-2) [UniParc]FASTAAdd to basket

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.
Show »
Length:345
Mass (Da):37,110
Checksum:i389719C312FA0D37
GO
Isoform 3 (identifier: Q9P202-3) [UniParc]FASTAAdd to basket

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

Note: No experimental confirmation available.
Show »
Length:524
Mass (Da):55,581
Checksum:i699AD98C80D3E625
GO
Isoform 4 (identifier: Q9P202-4) [UniParc]FASTAAdd to basket

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

Show »
Length:556
Mass (Da):59,260
Checksum:iE462067F57ADED36
GO

Sequence cautioni

The sequence BAA96050 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti225P → S in AK056190 (PubMed:14702039).Curated1
Sequence conflicti716G → V in BAB14275 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_036684364R → H.3 PublicationsCorresponds to variant rs10817610dbSNPEnsembl.1
Natural variantiVAR_036685423R → P.Corresponds to variant rs35003670dbSNPEnsembl.1
Natural variantiVAR_020593440A → T.Corresponds to variant rs4978584dbSNPEnsembl.1
Natural variantiVAR_057029443A → S.Corresponds to variant rs11539662dbSNPEnsembl.1
Natural variantiVAR_036686562P → A.Corresponds to variant rs12339210dbSNPEnsembl.1
Natural variantiVAR_036687613M → T.2 PublicationsCorresponds to variant rs942519dbSNPEnsembl.1
Natural variantiVAR_036688752H → Q.5 PublicationsCorresponds to variant rs6478078dbSNPEnsembl.1
Natural variantiVAR_020594783V → A.2 PublicationsCorresponds to variant rs2274159dbSNPEnsembl.1
Natural variantiVAR_020595796N → K.Corresponds to variant rs2274158dbSNPEnsembl.1
Natural variantiVAR_020596813T → M.Corresponds to variant rs942519dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0122161 – 383Missing in isoform 3. 1 PublicationAdd BLAST383
Alternative sequenceiVSP_0122171 – 351Missing in isoform 4. 1 PublicationAdd BLAST351
Alternative sequenceiVSP_012218281 – 345NLVLG…EAVRL → SGVGKGGQPLRHRILPPNPE QQSCLEAARRGWFCPGSVFP QVCTEGWCFFFAFLFDLCSV CYNTG in isoform 2. 1 PublicationAdd BLAST65
Alternative sequenceiVSP_012219346 – 907Missing in isoform 2. 1 PublicationAdd BLAST562
Alternative sequenceiVSP_012220352 – 389LILTV…ANSAG → MHGSLEALLFLPQVTLSLAH AHLICSNAQLEMCVFPHR in isoform 4. 1 PublicationAdd BLAST38

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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.
CCDSiCCDS43870.1. [Q9P202-3]
CCDS6806.1. [Q9P202-1]
PIRiT14765.
RefSeqiNP_001077354.2. NM_001083885.2.
NP_001166896.1. NM_001173425.1.
NP_056219.3. NM_015404.3.
UniGeneiHs.93836.

Genome annotation databases

EnsembliENST00000374057; ENSP00000363170; ENSG00000095397. [Q9P202-2]
GeneIDi25861.
KEGGihsa:25861.
UCSCiuc004biy.5. human. [Q9P202-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Web resourcesi

Hereditary hearing loss homepage

Gene page

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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.
CCDSiCCDS43870.1. [Q9P202-3]
CCDS6806.1. [Q9P202-1]
PIRiT14765.
RefSeqiNP_001077354.2. NM_001083885.2.
NP_001166896.1. NM_001173425.1.
NP_056219.3. NM_015404.3.
UniGeneiHs.93836.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1UEZNMR-A137-224[»]
1UF1NMR-A263-378[»]
1UFXNMR-A815-904[»]
ProteinModelPortaliQ9P202.
SMRiQ9P202.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi117381. 1 interactor.
IntActiQ9P202. 4 interactors.
MINTiMINT-3056156.
STRINGi9606.ENSP00000354623.

PTM databases

iPTMnetiQ9P202.
PhosphoSitePlusiQ9P202.
SwissPalmiQ9P202.

Polymorphism and mutation databases

BioMutaiDFNB31.
DMDMi296453079.

Proteomic databases

EPDiQ9P202.
MaxQBiQ9P202.
PaxDbiQ9P202.
PeptideAtlasiQ9P202.
PRIDEiQ9P202.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000374057; ENSP00000363170; ENSG00000095397. [Q9P202-2]
GeneIDi25861.
KEGGihsa:25861.
UCSCiuc004biy.5. human. [Q9P202-1]

Organism-specific databases

CTDi25861.
DisGeNETi25861.
GeneCardsiDFNB31.
GeneReviewsiDFNB31.
HGNCiHGNC:16361. WHRN.
HPAiCAB033194.
HPA002386.
HPA002480.
MalaCardsiDFNB31.
MIMi607084. phenotype.
607928. gene.
611383. phenotype.
neXtProtiNX_Q9P202.
OpenTargetsiENSG00000095397.
Orphaneti90636. Autosomal recessive non-syndromic sensorineural deafness type DFNB.
231178. Usher syndrome type 2.
PharmGKBiPA27297.
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410ITAG. Eukaryota.
ENOG410XTF7. LUCA.
GeneTreeiENSGT00530000063178.
HOVERGENiHBG056634.
InParanoidiQ9P202.
PhylomeDBiQ9P202.
TreeFamiTF325033.

Miscellaneous databases

ChiTaRSiDFNB31. human.
EvolutionaryTraceiQ9P202.
GeneWikiiDFNB31.
GenomeRNAii25861.
PROiQ9P202.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000095397.
CleanExiHS_DFNB31.
ExpressionAtlasiQ9P202. baseline and differential.

Family and domain databases

Gene3Di2.30.42.10. 3 hits.
InterProiIPR001478. PDZ.
IPR033028. Whirlin.
[Graphical view]
PANTHERiPTHR23116:SF37. PTHR23116:SF37. 1 hit.
PfamiPF00595. PDZ. 3 hits.
[Graphical view]
SMARTiSM00228. PDZ. 3 hits.
[Graphical view]
SUPFAMiSSF50156. SSF50156. 3 hits.
PROSITEiPS50106. PDZ. 3 hits.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiWHRN_HUMAN
AccessioniPrimary (citable) accession number: Q9P202
Secondary accession number(s): A5PKU1
, A5PKZ9, Q5TAU9, Q5TAV0, Q5TAV1, Q5TAV2, Q96MZ9, Q9H9F4, Q9UFZ3
Entry historyi
Integrated into UniProtKB/Swiss-Prot: December 7, 2004
Last sequence update: May 18, 2010
Last modified: November 2, 2016
This is version 147 of the entry and version 3 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 9
    Human chromosome 9: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.