UniProtKB - Q9P202 (WHRN_HUMAN)
Whirlin
WHRN
Functioni
GO - Molecular functioni
- identical protein binding Source: Ensembl
GO - Biological processi
- auditory receptor cell stereocilium organization Source: GO_Central
- cerebellar Purkinje cell layer formation Source: Ensembl
- detection of mechanical stimulus involved in sensory perception of sound Source: UniProtKB
- establishment of protein localization Source: UniProtKB
- inner ear receptor cell stereocilium organization Source: UniProtKB
- paranodal junction maintenance Source: Ensembl
- positive regulation of gene expression Source: Ensembl
- retina homeostasis Source: HGNC-UCL
- sensory perception of light stimulus Source: HGNC-UCL
- sensory perception of sound Source: HGNC-UCL
Keywordsi
Biological process | Hearing |
Enzyme and pathway databases
PathwayCommonsi | Q9P202 |
Names & Taxonomyi
Protein namesi | Recommended name: WhirlinCuratedAlternative name(s): Autosomal recessive deafness type 31 proteinCurated |
Gene namesi | |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
EuPathDBi | HostDB:ENSG00000095397.13 |
HGNCi | HGNC:16361, WHRN |
MIMi | 607928, gene |
neXtProti | NX_Q9P202 |
Subcellular locationi
Other locations
- Cytoplasm By similarity
- stereocilium By similarity
- growth cone By similarity
- Photoreceptor inner segment By similarity
- synapse By similarity
Note: Detected at the level of stereocilia in inner and outer hair cells of the cochlea and vestibule. Localizes to both tip and ankle-link stereocilia regions. 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). In photoreceptors, localizes at a plasma membrane microdomain in the apical inner segment that surrounds the connecting cilia called periciliary membrane complex.By similarity1 Publication
Cytoskeleton
- actin filament Source: Ensembl
- ciliary basal body Source: Ensembl
Plasma Membrane
- periciliary membrane compartment Source: UniProtKB
- plasma membrane Source: GO_Central
Other locations
- cytoplasm Source: HGNC-UCL
- growth cone Source: UniProtKB-SubCell
- photoreceptor connecting cilium Source: Ensembl
- photoreceptor inner segment Source: UniProtKB-SubCell
- stereocilia ankle link Source: UniProtKB
- stereocilia ankle link complex Source: UniProtKB
- stereocilium Source: UniProtKB
- stereocilium tip Source: UniProtKB
- synapse Source: UniProtKB-SubCell
- USH2 complex Source: UniProtKB
Keywords - Cellular componenti
Cell junction, Cell projection, Cytoplasm, SynapsePathology & Biotechi
Involvement in diseasei
Deafness, autosomal recessive, 31 (DFNB31)3 Publications
Usher syndrome 2D (USH2D)1 Publication
Keywords - Diseasei
Deafness, Non-syndromic deafness, Retinitis pigmentosa, Usher syndromeOrganism-specific databases
DisGeNETi | 25861 |
GeneReviewsi | WHRN |
MalaCardsi | WHRN |
MIMi | 607084, phenotype 611383, phenotype |
OpenTargetsi | ENSG00000095397 |
Orphaneti | 90636, Autosomal recessive non-syndromic sensorineural deafness type DFNB 231178, Usher syndrome type 2 |
PharmGKBi | PA27297 |
Miscellaneous databases
Pharosi | Q9P202, Tbio |
Polymorphism and mutation databases
BioMutai | WHRN |
DMDMi | 296453079 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000065968 | 1 – 907 | WhirlinAdd BLAST | 907 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 685 | PhosphoserineCombined sources | 1 |
Keywords - PTMi
PhosphoproteinProteomic databases
EPDi | Q9P202 |
jPOSTi | Q9P202 |
MassIVEi | Q9P202 |
PaxDbi | Q9P202 |
PeptideAtlasi | Q9P202 |
PRIDEi | Q9P202 |
ProteomicsDBi | 83692 [Q9P202-1] 83693 [Q9P202-2] 83694 [Q9P202-3] 83695 [Q9P202-4] |
PTM databases
iPTMneti | Q9P202 |
PhosphoSitePlusi | Q9P202 |
SwissPalmi | Q9P202 |
Expressioni
Gene expression databases
Bgeei | ENSG00000095397, Expressed in right adrenal gland and 187 other tissues |
ExpressionAtlasi | Q9P202, baseline and differential |
Organism-specific databases
HPAi | ENSG00000095397, Tissue enhanced (adrenal) |
Interactioni
Subunit structurei
Forms homooligomers (By similarity).
Interacts (via C-terminal PDZ domain) with MYO15A; this interaction is necessary for localization of WHRN to stereocilia tips (By similarity).
Interacts (via C-terminal PDZ domain) with MPP1/p55 (PubMed:17584769).
Interacts with LRRC4C/NGL1.
Interacts with MYO7A.
Interacts with RPGR.
Interacts with EPS8 (By similarity).
Interacts with CASK (By similarity).
Interacts with CIB2 (PubMed:23023331).
Component of USH2 complex, composed of ADGRV1, PDZD7, USH2A and WHRN.
Interacts (via PDZ domains) with PDZD7; the interaction is direct.
Interacts (via N-terminal PDZ domain) with USH2A (via cytoplasmic region) (PubMed:16434480).
Interacts with ADGRV1/MASS1 (via cytoplasmic region) (PubMed:16434480).
By similarity3 PublicationsBinary interactionsi
Hide detailsQ9P202
GO - Molecular functioni
- identical protein binding Source: Ensembl
Protein-protein interaction databases
BioGRIDi | 117381, 21 interactors |
CORUMi | Q9P202 |
IntActi | Q9P202, 16 interactors |
MINTi | Q9P202 |
STRINGi | 9606.ENSP00000354623 |
Miscellaneous databases
RNActi | Q9P202, protein |
Structurei
Secondary structure
3D structure databases
BMRBi | Q9P202 |
SMRi | Q9P202 |
ModBasei | Search... |
PDBe-KBi | Search... |
Miscellaneous databases
EvolutionaryTracei | Q9P202 |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 140 – 223 | PDZ 1PROSITE-ProRule annotationAdd BLAST | 84 | |
Domaini | 279 – 361 | PDZ 2PROSITE-ProRule annotationAdd BLAST | 83 | |
Domaini | 816 – 899 | PDZ 3PROSITE-ProRule annotationAdd BLAST | 84 |
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 9 – 31 | Ala/Gly/Ser-richAdd BLAST | 23 | |
Compositional biasi | 581 – 712 | Pro-richAdd BLAST | 132 |
Keywords - Domaini
RepeatPhylogenomic databases
eggNOGi | KOG3528, Eukaryota |
GeneTreei | ENSGT00950000183002 |
HOGENOMi | CLU_069153_0_0_1 |
InParanoidi | Q9P202 |
OMAi | ANQHFIM |
OrthoDBi | 168224at2759 |
PhylomeDBi | Q9P202 |
TreeFami | TF325033 |
Family and domain databases
Gene3Di | 2.30.42.10, 3 hits |
InterProi | View protein in InterPro IPR001478, PDZ IPR036034, PDZ_sf IPR033028, Whirlin |
PANTHERi | PTHR23116:SF37, PTHR23116:SF37, 1 hit |
Pfami | View protein in Pfam PF00595, PDZ, 3 hits |
SMARTi | View protein in SMART SM00228, PDZ, 3 hits |
SUPFAMi | SSF50156, SSF50156, 3 hits |
PROSITEi | View protein in PROSITE PS50106, PDZ, 3 hits |
s (4+)i Sequence
Sequence statusi: Complete.
This entry describes 4 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 4 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
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 RLPHARTTVD 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
SQLSDSGQTL 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
Computationally mapped potential isoform sequencesi
There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketA0A669KBJ1 | A0A669KBJ1_HUMAN | Whirlin | WHRN | 565 | Annotation score: | ||
A0A669KBA5 | A0A669KBA5_HUMAN | Whirlin | WHRN | 20 | Annotation score: |
Sequence cautioni
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 225 | P → S in AK056190 (PubMed:14702039).Curated | 1 | |
Sequence conflicti | 716 | G → V in BAB14275 (PubMed:14702039).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_036684 | 364 | H → R. Corresponds to variant dbSNP:rs10817610EnsemblClinVar. | 1 | |
Natural variantiVAR_036685 | 423 | R → P. Corresponds to variant dbSNP:rs35003670Ensembl. | 1 | |
Natural variantiVAR_020593 | 440 | A → T. Corresponds to variant dbSNP:rs4978584EnsemblClinVar. | 1 | |
Natural variantiVAR_057029 | 443 | A → S. Corresponds to variant dbSNP:rs11539662Ensembl. | 1 | |
Natural variantiVAR_036686 | 562 | P → A. Corresponds to variant dbSNP:rs12339210EnsemblClinVar. | 1 | |
Natural variantiVAR_036687 | 613 | M → T2 PublicationsCorresponds to variant dbSNP:rs942519EnsemblClinVar. | 1 | |
Natural variantiVAR_036688 | 752 | Q → H. Corresponds to variant dbSNP:rs6478078EnsemblClinVar. | 1 | |
Natural variantiVAR_020594 | 783 | V → A2 PublicationsCorresponds to variant dbSNP:rs2274159EnsemblClinVar. | 1 | |
Natural variantiVAR_020595 | 796 | N → K. Corresponds to variant dbSNP:rs2274158EnsemblClinVar. | 1 | |
Natural variantiVAR_020596 | 813 | T → M. Corresponds to variant dbSNP:rs143728180Ensembl. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_012216 | 1 – 383 | Missing in isoform 3. 1 PublicationAdd BLAST | 383 | |
Alternative sequenceiVSP_012217 | 1 – 351 | Missing in isoform 4. 1 PublicationAdd BLAST | 351 | |
Alternative sequenceiVSP_012218 | 281 – 345 | NLVLG…EAVRL → SGVGKGGQPLRHRILPPNPE QQSCLEAARRGWFCPGSVFP QVCTEGWCFFFAFLFDLCSV CYNTG in isoform 2. 1 PublicationAdd BLAST | 65 | |
Alternative sequenceiVSP_012219 | 346 – 907 | Missing in isoform 2. 1 PublicationAdd BLAST | 562 | |
Alternative sequenceiVSP_012220 | 352 – 389 | LILTV…ANSAG → MHGSLEALLFLPQVTLSLAH AHLICSNAQLEMCVFPHR in isoform 4. 1 PublicationAdd BLAST | 38 |
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 No translation available. KF459656 Genomic DNA No translation available. KF459658 Genomic DNA No translation available. CH471090 Genomic DNA Translation: EAW87422.1 CH471090 Genomic DNA Translation: EAW87423.1 BC142614 mRNA Translation: AAI42615.1 BC142684 mRNA Translation: AAI42685.1 |
CCDSi | CCDS43870.1 [Q9P202-3] CCDS6806.1 [Q9P202-1] CCDS87678.1 [Q9P202-4] |
PIRi | T14765 |
RefSeqi | NP_001077354.2, NM_001083885.2 [Q9P202-3] NP_001166896.1, NM_001173425.1 NP_001333819.1, NM_001346890.1 [Q9P202-4] NP_056219.3, NM_015404.3 [Q9P202-1] |
Genome annotation databases
Ensembli | ENST00000265134; ENSP00000265134; ENSG00000095397 [Q9P202-3] ENST00000362057; ENSP00000354623; ENSG00000095397 [Q9P202-1] ENST00000374057; ENSP00000363170; ENSG00000095397 [Q9P202-2] |
GeneIDi | 25861 |
KEGGi | hsa:25861 |
UCSCi | uc004biy.5, human [Q9P202-1] |
Keywords - Coding sequence diversityi
Alternative splicing, PolymorphismSimilar proteinsi
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 No translation available. KF459656 Genomic DNA No translation available. KF459658 Genomic DNA No translation available. CH471090 Genomic DNA Translation: EAW87422.1 CH471090 Genomic DNA Translation: EAW87423.1 BC142614 mRNA Translation: AAI42615.1 BC142684 mRNA Translation: AAI42685.1 |
CCDSi | CCDS43870.1 [Q9P202-3] CCDS6806.1 [Q9P202-1] CCDS87678.1 [Q9P202-4] |
PIRi | T14765 |
RefSeqi | NP_001077354.2, NM_001083885.2 [Q9P202-3] NP_001166896.1, NM_001173425.1 NP_001333819.1, NM_001346890.1 [Q9P202-4] NP_056219.3, NM_015404.3 [Q9P202-1] |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
1UEZ | NMR | - | A | 137-224 | [»] | |
1UF1 | NMR | - | A | 263-378 | [»] | |
1UFX | NMR | - | A | 815-904 | [»] | |
BMRBi | Q9P202 | |||||
SMRi | Q9P202 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 117381, 21 interactors |
CORUMi | Q9P202 |
IntActi | Q9P202, 16 interactors |
MINTi | Q9P202 |
STRINGi | 9606.ENSP00000354623 |
PTM databases
iPTMneti | Q9P202 |
PhosphoSitePlusi | Q9P202 |
SwissPalmi | Q9P202 |
Polymorphism and mutation databases
BioMutai | WHRN |
DMDMi | 296453079 |
Proteomic databases
EPDi | Q9P202 |
jPOSTi | Q9P202 |
MassIVEi | Q9P202 |
PaxDbi | Q9P202 |
PeptideAtlasi | Q9P202 |
PRIDEi | Q9P202 |
ProteomicsDBi | 83692 [Q9P202-1] 83693 [Q9P202-2] 83694 [Q9P202-3] 83695 [Q9P202-4] |
Protocols and materials databases
Antibodypediai | 29951, 151 antibodies |
Genome annotation databases
Ensembli | ENST00000265134; ENSP00000265134; ENSG00000095397 [Q9P202-3] ENST00000362057; ENSP00000354623; ENSG00000095397 [Q9P202-1] ENST00000374057; ENSP00000363170; ENSG00000095397 [Q9P202-2] |
GeneIDi | 25861 |
KEGGi | hsa:25861 |
UCSCi | uc004biy.5, human [Q9P202-1] |
Organism-specific databases
CTDi | 25861 |
DisGeNETi | 25861 |
EuPathDBi | HostDB:ENSG00000095397.13 |
GeneCardsi | WHRN |
GeneReviewsi | WHRN |
HGNCi | HGNC:16361, WHRN |
HPAi | ENSG00000095397, Tissue enhanced (adrenal) |
MalaCardsi | WHRN |
MIMi | 607084, phenotype 607928, gene 611383, phenotype |
neXtProti | NX_Q9P202 |
OpenTargetsi | ENSG00000095397 |
Orphaneti | 90636, Autosomal recessive non-syndromic sensorineural deafness type DFNB 231178, Usher syndrome type 2 |
PharmGKBi | PA27297 |
HUGEi | Search... |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG3528, Eukaryota |
GeneTreei | ENSGT00950000183002 |
HOGENOMi | CLU_069153_0_0_1 |
InParanoidi | Q9P202 |
OMAi | ANQHFIM |
OrthoDBi | 168224at2759 |
PhylomeDBi | Q9P202 |
TreeFami | TF325033 |
Enzyme and pathway databases
PathwayCommonsi | Q9P202 |
Miscellaneous databases
BioGRID-ORCSi | 25861, 10 hits in 843 CRISPR screens |
ChiTaRSi | WHRN, human |
EvolutionaryTracei | Q9P202 |
GeneWikii | DFNB31 |
GenomeRNAii | 25861 |
Pharosi | Q9P202, Tbio |
PROi | PR:Q9P202 |
RNActi | Q9P202, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000095397, Expressed in right adrenal gland and 187 other tissues |
ExpressionAtlasi | Q9P202, baseline and differential |
Family and domain databases
Gene3Di | 2.30.42.10, 3 hits |
InterProi | View protein in InterPro IPR001478, PDZ IPR036034, PDZ_sf IPR033028, Whirlin |
PANTHERi | PTHR23116:SF37, PTHR23116:SF37, 1 hit |
Pfami | View protein in Pfam PF00595, PDZ, 3 hits |
SMARTi | View protein in SMART SM00228, PDZ, 3 hits |
SUPFAMi | SSF50156, SSF50156, 3 hits |
PROSITEi | View protein in PROSITE PS50106, PDZ, 3 hits |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | WHRN_HUMAN | |
Accessioni | Q9P202Primary (citable) accession number: Q9P202 Secondary accession number(s): A0A0C4DFT9 Q9UFZ3 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | December 7, 2004 |
Last sequence update: | March 28, 2018 | |
Last modified: | December 2, 2020 | |
This is version 177 of the entry and version 4 of the sequence. See complete history. | ||
Entry statusi | 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. |
Miscellaneousi
Keywords - Technical termi
3D-structure, Reference proteomeDocuments
- Human chromosome 9
Human chromosome 9: entries, gene names and cross-references to MIM - Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PDB cross-references
Index of Protein Data Bank (PDB) cross-references - Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations