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Q9P202

- WHRN_HUMAN

UniProt

Q9P202 - WHRN_HUMAN

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Protein

Whirlin

Gene

DFNB31

Organism
Homo sapiens (Human)
Status
Reviewed - 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

  1. inner ear receptor stereocilium organization Source: UniProtKB
  2. retina homeostasis Source: HGNC
  3. sensory perception of light stimulus Source: HGNC
  4. 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:DFNB31
Synonyms:KIAA1526, WHRN
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 9

Organism-specific databases

HGNCiHGNC:16361. DFNB31.

Subcellular locationi

Cytoplasm By similarity. Cell projectionstereocilium By similarity. Cell projectiongrowth cone By similarity
Note: Detected at the level of stereocilia in inner outer hair cells of the cochlea and vestibule. Colocalizes 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).By similarity1 Publication

GO - Cellular componenti

  1. actin filament Source: Ensembl
  2. cilium Source: Ensembl
  3. cytoplasm Source: HGNC
  4. stereocilia ankle link complex Source: Ensembl
  5. stereocilium Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Cell projection, Cytoplasm

Pathology & Biotechi

Involvement in diseasei

Deafness, autosomal recessive, 31 (DFNB31) [MIM:607084]: A 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.3 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
Usher syndrome 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.
Note: The disease is caused by mutations affecting the gene represented in this entry.

Keywords - Diseasei

Deafness, Non-syndromic deafness, Usher syndrome

Organism-specific databases

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

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 907907WhirlinPRO_0000065968Add
BLAST

Proteomic databases

MaxQBiQ9P202.
PaxDbiQ9P202.
PRIDEiQ9P202.

PTM databases

PhosphoSiteiQ9P202.

Expressioni

Gene expression databases

BgeeiQ9P202.
CleanExiHS_DFNB31.
ExpressionAtlasiQ9P202. baseline and differential.
GenevestigatoriQ9P202.

Organism-specific databases

HPAiCAB033194.
HPA002386.
HPA002480.

Interactioni

Subunit structurei

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 EPS8.2 Publications

Protein-protein interaction databases

BioGridi117381. 1 interaction.
IntActiQ9P202. 4 interactions.
MINTiMINT-3056156.
STRINGi9606.ENSP00000354623.

Structurei

Secondary structure

1
907
Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Beta strandi139 – 1413Combined sources
Beta strandi152 – 1587Combined sources
Turni160 – 1634Combined sources
Beta strandi166 – 1716Combined sources
Helixi176 – 1805Combined sources
Beta strandi188 – 1914Combined sources
Helixi201 – 2077Combined sources
Beta strandi208 – 2136Combined sources
Beta strandi216 – 2183Combined sources
Turni263 – 2653Combined sources
Beta strandi275 – 2839Combined sources
Beta strandi292 – 2954Combined sources
Turni298 – 3014Combined sources
Beta strandi305 – 3095Combined sources
Helixi314 – 3185Combined sources
Beta strandi325 – 3295Combined sources
Helixi339 – 3468Combined sources
Beta strandi350 – 3578Combined sources
Beta strandi815 – 8206Combined sources
Beta strandi823 – 8253Combined sources
Beta strandi828 – 8314Combined sources
Beta strandi842 – 8465Combined sources
Helixi851 – 8555Combined sources
Helixi877 – 88913Combined sources
Beta strandi894 – 9007Combined sources

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
1UEZNMR-A137-224[»]
1UF1NMR-A263-378[»]
1UFXNMR-A815-904[»]
ProteinModelPortaliQ9P202.
SMRiQ9P202. Positions 7-378, 813-904.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ9P202.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini140 – 22384PDZ 1PROSITE-ProRule annotationAdd
BLAST
Domaini279 – 36183PDZ 2PROSITE-ProRule annotationAdd
BLAST
Domaini816 – 89984PDZ 3PROSITE-ProRule annotationAdd
BLAST

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi9 – 3123Ala/Gly/Ser-richAdd
BLAST
Compositional biasi581 – 712132Pro-richAdd
BLAST

Sequence similaritiesi

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

Keywords - Domaini

Repeat

Phylogenomic databases

eggNOGiNOG291372.
GeneTreeiENSGT00530000063178.
HOVERGENiHBG056634.
InParanoidiQ9P202.
OMAiAPQNRSP.
OrthoDBiEOG7J9VQG.
PhylomeDBiQ9P202.
TreeFamiTF325033.

Family and domain databases

Gene3Di2.30.42.10. 3 hits.
InterProiIPR001478. PDZ.
[Graphical view]
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. Align

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 BAA96050.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti225 – 2251P → S in AK056190. (PubMed:14702039)Curated
Sequence conflicti716 – 7161G → V in BAB14275. (PubMed:14702039)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti364 – 3641R → H.3 Publications
Corresponds to variant rs10817610 [ dbSNP | Ensembl ].
VAR_036684
Natural varianti423 – 4231R → P.
Corresponds to variant rs35003670 [ dbSNP | Ensembl ].
VAR_036685
Natural varianti440 – 4401A → T.
Corresponds to variant rs4978584 [ dbSNP | Ensembl ].
VAR_020593
Natural varianti443 – 4431A → S.
Corresponds to variant rs11539662 [ dbSNP | Ensembl ].
VAR_057029
Natural varianti562 – 5621P → A.
Corresponds to variant rs12339210 [ dbSNP | Ensembl ].
VAR_036686
Natural varianti613 – 6131M → T.2 Publications
Corresponds to variant rs942519 [ dbSNP | Ensembl ].
VAR_036687
Natural varianti752 – 7521H → Q.5 Publications
Corresponds to variant rs6478078 [ dbSNP | Ensembl ].
VAR_036688
Natural varianti783 – 7831V → A.2 Publications
Corresponds to variant rs2274159 [ dbSNP | Ensembl ].
VAR_020594
Natural varianti796 – 7961N → K.
Corresponds to variant rs2274158 [ dbSNP | Ensembl ].
VAR_020595
Natural varianti813 – 8131T → M.
Corresponds to variant rs942519 [ dbSNP | Ensembl ].
VAR_020596

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 383383Missing in isoform 3. 1 PublicationVSP_012216Add
BLAST
Alternative sequencei1 – 351351Missing in isoform 4. 1 PublicationVSP_012217Add
BLAST
Alternative sequencei281 – 34565NLVLG…EAVRL → SGVGKGGQPLRHRILPPNPE QQSCLEAARRGWFCPGSVFP QVCTEGWCFFFAFLFDLCSV CYNTG in isoform 2. 1 PublicationVSP_012218Add
BLAST
Alternative sequencei346 – 907562Missing in isoform 2. 1 PublicationVSP_012219Add
BLAST
Alternative sequencei352 – 38938LILTV…ANSAG → MHGSLEALLFLPQVTLSLAH AHLICSNAQLEMCVFPHR in isoform 4. 1 PublicationVSP_012220Add
BLAST

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.
XP_005251952.2. XM_005251895.2.
UniGeneiHs.93836.

Genome annotation databases

EnsembliENST00000265134; ENSP00000265134; ENSG00000095397.
ENST00000362057; ENSP00000354623; ENSG00000095397.
ENST00000374057; ENSP00000363170; ENSG00000095397. [Q9P202-2]
GeneIDi25861.
KEGGihsa:25861.
UCSCiuc004bix.3. human. [Q9P202-4]
uc004biy.4. human. [Q9P202-1]
uc004bjb.3. human. [Q9P202-2]

Polymorphism databases

DMDMi296453079.

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 .
CCDSi CCDS43870.1. [Q9P202-3 ]
CCDS6806.1. [Q9P202-1 ]
PIRi T14765.
RefSeqi NP_001077354.2. NM_001083885.2.
NP_001166896.1. NM_001173425.1.
NP_056219.3. NM_015404.3.
XP_005251952.2. XM_005251895.2.
UniGenei Hs.93836.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
Entry Method Resolution (Å) Chain Positions PDBsum
1UEZ NMR - A 137-224 [» ]
1UF1 NMR - A 263-378 [» ]
1UFX NMR - A 815-904 [» ]
ProteinModelPortali Q9P202.
SMRi Q9P202. Positions 7-378, 813-904.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 117381. 1 interaction.
IntActi Q9P202. 4 interactions.
MINTi MINT-3056156.
STRINGi 9606.ENSP00000354623.

PTM databases

PhosphoSitei Q9P202.

Polymorphism databases

DMDMi 296453079.

Proteomic databases

MaxQBi Q9P202.
PaxDbi Q9P202.
PRIDEi Q9P202.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000265134 ; ENSP00000265134 ; ENSG00000095397 .
ENST00000362057 ; ENSP00000354623 ; ENSG00000095397 .
ENST00000374057 ; ENSP00000363170 ; ENSG00000095397 . [Q9P202-2 ]
GeneIDi 25861.
KEGGi hsa:25861.
UCSCi uc004bix.3. human. [Q9P202-4 ]
uc004biy.4. human. [Q9P202-1 ]
uc004bjb.3. human. [Q9P202-2 ]

Organism-specific databases

CTDi 25861.
GeneCardsi GC09M117164.
GeneReviewsi DFNB31.
HGNCi HGNC:16361. DFNB31.
HPAi CAB033194.
HPA002386.
HPA002480.
MIMi 607084. phenotype.
607928. gene.
611383. phenotype.
neXtProti NX_Q9P202.
Orphaneti 90636. Autosomal recessive non-syndromic sensorineural deafness type DFNB.
231178. Usher syndrome type 2.
PharmGKBi PA27297.
HUGEi Search...
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG291372.
GeneTreei ENSGT00530000063178.
HOVERGENi HBG056634.
InParanoidi Q9P202.
OMAi APQNRSP.
OrthoDBi EOG7J9VQG.
PhylomeDBi Q9P202.
TreeFami TF325033.

Miscellaneous databases

ChiTaRSi DFNB31. human.
EvolutionaryTracei Q9P202.
GeneWikii DFNB31.
GenomeRNAii 25861.
NextBioi 47225.
PROi Q9P202.
SOURCEi Search...

Gene expression databases

Bgeei Q9P202.
CleanExi HS_DFNB31.
ExpressionAtlasi Q9P202. baseline and differential.
Genevestigatori Q9P202.

Family and domain databases

Gene3Di 2.30.42.10. 3 hits.
InterProi IPR001478. PDZ.
[Graphical view ]
Pfami PF00595. PDZ. 3 hits.
[Graphical view ]
SMARTi SM00228. PDZ. 3 hits.
[Graphical view ]
SUPFAMi SSF50156. SSF50156. 3 hits.
PROSITEi PS50106. PDZ. 3 hits.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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] [Europe PMC] [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] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 2 AND 4), VARIANTS THR-613; GLN-752 AND ALA-783.
  3. 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] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  5. 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] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANTS HIS-364; THR-613; GLN-752 AND ALA-783.
  7. 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] [Europe PMC] [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] [Europe PMC] [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] [Europe PMC] [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] [Europe PMC] [Abstract]
    Cited for: INVOLVEMENT IN USH2.
  12. Cited for: INTERACTION WITH MPP1, SUBCELLULAR LOCATION.
  13. "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.

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 26, 2014
This is version 129 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

External Data

Dasty 3