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Q9Y6N9

- USH1C_HUMAN

UniProt

Q9Y6N9 - USH1C_HUMAN

Protein

Harmonin

Gene

USH1C

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
    • BLAST
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    • History
      Entry version 134 (01 Oct 2014)
      Sequence version 3 (13 Nov 2007)
      Previous versions | rss
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    Functioni

    Required for normal development and maintenance of cochlear hair cell bundles. Anchoring/scaffolding protein that is a part of the functional network formed by USH1C, USH1G, CDH23 and MYO7A that mediates mechanotransduction in cochlear hair cells. Required for normal hearing By similarity.By similarity

    GO - Molecular functioni

    1. protein binding Source: HGNC
    2. spectrin binding Source: MGI

    GO - Biological processi

    1. auditory receptor cell differentiation Source: Ensembl
    2. equilibrioception Source: HGNC
    3. G2/M transition of mitotic cell cycle Source: HGNC
    4. inner ear morphogenesis Source: Ensembl
    5. parallel actin filament bundle assembly Source: Ensembl
    6. photoreceptor cell maintenance Source: HGNC
    7. sensory perception of light stimulus Source: HGNC
    8. sensory perception of sound Source: HGNC

    Keywords - Biological processi

    Hearing

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Harmonin
    Alternative name(s):
    Antigen NY-CO-38/NY-CO-37
    Autoimmune enteropathy-related antigen AIE-75
    Protein PDZ-73
    Renal carcinoma antigen NY-REN-3
    Usher syndrome type-1C protein
    Gene namesi
    Name:USH1C
    Synonyms:AIE75
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 11

    Organism-specific databases

    HGNCiHGNC:12597. USH1C.

    Subcellular locationi

    Cytoplasmcytosol. Cytoplasmcytoskeleton
    Note: Colocalizes with F-actin By similarity. Detected at the tip of cochlear hair cell stereocilia.By similarity

    GO - Cellular componenti

    1. apical part of cell Source: HGNC
    2. cytoplasm Source: HGNC
    3. cytoskeleton Source: UniProtKB-SubCell
    4. cytosol Source: UniProtKB-SubCell
    5. photoreceptor inner segment Source: Ensembl
    6. photoreceptor outer segment Source: Ensembl
    7. plasma membrane Source: Ensembl
    8. stereocilium Source: HGNC
    9. synapse Source: Ensembl

    Keywords - Cellular componenti

    Cytoplasm, Cytoskeleton

    Pathology & Biotechi

    Involvement in diseasei

    Usher syndrome 1C (USH1C) [MIM:276904]: USH is a genetically heterogeneous condition characterized by the association of retinitis pigmentosa with 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). USH1 is characterized by profound congenital sensorineural deafness, absent vestibular function and prepubertal onset of progressive retinitis pigmentosa leading to blindness.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Deafness, autosomal recessive, 18A (DFNB18A) [MIM:602092]: 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.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.

    Mutagenesis

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Mutagenesisi103 – 1031R → H: Strongly reduced affinity for USH1G. 1 Publication

    Keywords - Diseasei

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

    Organism-specific databases

    MIMi276900. phenotype.
    276904. phenotype.
    602092. phenotype.
    Orphaneti90636. Autosomal recessive nonsyndromic sensorineural deafness type DFNB.
    231169. Usher syndrome type 1.
    PharmGKBiPA37226.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 552552HarmoninPRO_0000065727Add
    BLAST

    Proteomic databases

    MaxQBiQ9Y6N9.
    PaxDbiQ9Y6N9.
    PRIDEiQ9Y6N9.

    PTM databases

    PhosphoSiteiQ9Y6N9.

    Expressioni

    Tissue specificityi

    Expressed in small intestine, colon, kidney, eye and weakly in pancreas. Expressed also in vestibule of the inner ear.1 Publication

    Gene expression databases

    ArrayExpressiQ9Y6N9.
    BgeeiQ9Y6N9.
    CleanExiHS_USH1C.
    GenevestigatoriQ9Y6N9.

    Organism-specific databases

    HPAiCAB013690.
    HPA027398.
    HPA027492.
    HPA028033.

    Interactioni

    Subunit structurei

    Interacts with F-actin. Interacts with HARP By similarity. Interacts with USH1G/SANS, USH2A and SLC4A7. Interacts (via the first PDZ domain) with the C-terminus of USHBP1. Interacts (via N-terminus and second PDZ domain) with CDH23. Part of a complex composed of USH1C, USH1G and MYO7A.By similarity6 Publications

    Protein-protein interaction databases

    BioGridi115392. 8 interactions.
    DIPiDIP-41473N.
    IntActiQ9Y6N9. 2 interactions.
    MINTiMINT-196953.
    STRINGi9606.ENSP00000005226.

    Structurei

    Secondary structure

    1
    552
    Legend: HelixTurnBeta strand
    Show more details
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Helixi2 – 1615
    Helixi20 – 3617
    Helixi39 – 468
    Turni47 – 493
    Helixi53 – 564
    Helixi57 – 626
    Helixi63 – 653
    Helixi68 – 703
    Helixi71 – 777
    Beta strandi86 – 916
    Beta strandi100 – 1056
    Helixi106 – 1083
    Beta strandi110 – 1178
    Helixi122 – 1254
    Beta strandi132 – 1376
    Helixi147 – 1548
    Beta strandi156 – 16611
    Beta strandi169 – 1724
    Beta strandi181 – 1844
    Helixi185 – 1917
    Beta strandi208 – 2147
    Beta strandi217 – 2204
    Beta strandi224 – 2285
    Beta strandi231 – 2333
    Beta strandi235 – 2417
    Turni246 – 2516
    Beta strandi257 – 2615
    Helixi273 – 2808
    Beta strandi282 – 2887
    Turni292 – 2943
    Helixi295 – 2984

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    EntryMethodResolution (Å)ChainPositionsPDBsum
    1X5NNMR-A201-301[»]
    2KBQNMR-A1-80[»]
    2KBRNMR-A1-80[»]
    2KBSNMR-A208-299[»]
    2LSRNMR-A1-80[»]
    3K1RX-ray2.30A1-192[»]
    ProteinModelPortaliQ9Y6N9.
    SMRiQ9Y6N9. Positions 1-301, 441-552.
    ModBaseiSearch...
    MobiDBiSearch...

    Miscellaneous databases

    EvolutionaryTraceiQ9Y6N9.

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini87 – 16983PDZ 1PROSITE-ProRule annotationAdd
    BLAST
    Domaini211 – 29383PDZ 2PROSITE-ProRule annotationAdd
    BLAST
    Domaini452 – 53786PDZ 3PROSITE-ProRule annotationAdd
    BLAST

    Region

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Regioni1 – 8686N-terminal domainAdd
    BLAST

    Coiled coil

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Coiled coili310 – 37768Sequence AnalysisAdd
    BLAST

    Domaini

    The PDZ domain 1 mediates interactions with USH1G/SANS and SLC4A7.1 Publication
    The N-terminal region constitutes an independently folded domain that has structural similarity with the CCM2 C-terminus, despite very low sequence similarity.1 Publication

    Sequence similaritiesi

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

    Keywords - Domaini

    Coiled coil, Repeat

    Phylogenomic databases

    eggNOGiNOG255885.
    HOGENOMiHOG000126890.
    HOVERGENiHBG057181.
    OMAiEDWEAKN.
    OrthoDBiEOG75MVW2.
    PhylomeDBiQ9Y6N9.
    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 (5)i

    Sequence statusi: Complete.

    This entry describes 5 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q9Y6N9-1) [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

    MDRKVAREFR HKVDFLIEND AEKDYLYDVL RMYHQTMDVA VLVGDLKLVI    50
    NEPSRLPLFD AIRPLIPLKH QVEYDQLTPR RSRKLKEVRL DRLHPEGLGL 100
    SVRGGLEFGC GLFISHLIKG GQADSVGLQV GDEIVRINGY SISSCTHEEV 150
    INLIRTKKTV SIKVRHIGLI PVKSSPDEPL TWQYVDQFVS ESGGVRGSLG 200
    SPGNRENKEK KVFISLVGSR GLGCSISSGP IQKPGIFISH VKPGSLSAEV 250
    GLEIGDQIVE VNGVDFSNLD HKEAVNVLKS SRSLTISIVA AAGRELFMTD 300
    RERLAEARQR ELQRQELLMQ KRLAMESNKI LQEQQEMERQ RRKEIAQKAA 350
    EENERYRKEM EQIVEEEEKF KKQWEEDWGS KEQLLLPKTI TAEVHPVPLR 400
    KPKYDQGVEP ELEPADDLDG GTEEQGEQDF RKYEEGFDPY SMFTPEQIMG 450
    KDVRLLRIKK EGSLDLALEG GVDSPIGKVV VSAVYERGAA ERHGGIVKGD 500
    EIMAINGKIV TDYTLAEAEA ALQKAWNQGG DWIDLVVAVC PPKEYDDELT 550
    FF 552
    Length:552
    Mass (Da):62,211
    Last modified:November 13, 2007 - v3
    Checksum:i7E75CEE873C57F41
    GO
    Isoform 2 (identifier: Q9Y6N9-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-31: Missing.

    Show »
    Length:521
    Mass (Da):58,343
    Checksum:iA303D7D48D91A847
    GO
    Isoform 3 (identifier: Q9Y6N9-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         404-552: Missing.

    Note: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.

    Show »
    Length:403
    Mass (Da):45,812
    Checksum:iAB350B62ED2C44FD
    GO
    Isoform 4 (identifier: Q9Y6N9-4) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         274-292: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:533
    Mass (Da):60,329
    Checksum:iA9D7E121B11E2FBD
    GO
    Isoform 5 (identifier: Q9Y6N9-5) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         404-427: YDQGVEPELEPADDLDGGTEEQGE → SFGWFYRYDG...RMVVYQTAFR
         550-552: TFF → ASLPSSVAESPQPVRKLLEDRAAVHRHGFLLQLEPTDLLLKSKRGNQIHR

    Note: No experimental confirmation available.

    Show »
    Length:899
    Mass (Da):101,344
    Checksum:i6DA49F7674BFA920
    GO

    Sequence cautioni

    The sequence AAC18049.1 differs from that shown. Reason: Frameshift at position 552.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti103 – 1031R → S in BAA81739. (PubMed:10500064)Curated
    Sequence conflicti280 – 2801S → N in AAC18049. (PubMed:9610721)Curated
    Sequence conflicti280 – 2801S → N in AAC18048. (PubMed:9610721)Curated
    Sequence conflicti305 – 3051A → T in BAA81739. (PubMed:10500064)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti519 – 5191E → D.3 Publications
    Corresponds to variant rs1064074 [ dbSNP | Ensembl ].
    VAR_012320

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 3131Missing in isoform 2. 1 PublicationVSP_003789Add
    BLAST
    Alternative sequencei274 – 29219Missing in isoform 4. 1 PublicationVSP_007422Add
    BLAST
    Alternative sequencei404 – 552149Missing in isoform 3. 1 PublicationVSP_003790Add
    BLAST
    Alternative sequencei404 – 42724YDQGV…EEQGE → SFGWFYRYDGKFPTIRKKGK DKKKAKYGSLQDLRKNKKEL EFEQKLYKEKEEMLEKEKQL KINRLAQEVSETEREDLEES EKIQYWVERLCQTRLEQISS ADNEISEMTTGPPPPPPSVS PLAPPLRRFAGGLHLHTTDL DDIPLDMFYYPPKTPSALPV MPHPPPSNPPHKVPAPPVLP LSGHVSASSSPWVQRTPPPI PIPPPPSVPTQDLTPTRPLP SALEEALSNHPFRTGDTGNP VEDWEAKNHSGKPTNSPVPE QSFPPTPKTFCPSPQPPRGP GVSTISKPVMVHQEPNFIYR PAVKSEVLPQEMLKRMVVYQ TAFR in isoform 5. CuratedVSP_043520Add
    BLAST
    Alternative sequencei550 – 5523TFF → ASLPSSVAESPQPVRKLLED RAAVHRHGFLLQLEPTDLLL KSKRGNQIHR in isoform 5. CuratedVSP_043521

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF039700 mRNA. Translation: AAC18049.1. Frameshift.
    AF039699 mRNA. Translation: AAC18048.1.
    AB006955 mRNA. Translation: BAA81739.1.
    AB018687 mRNA. Translation: BAA81740.1.
    AK290788 mRNA. Translation: BAF83477.1.
    AC124799 Genomic DNA. No translation available.
    BC016057 mRNA. Translation: AAH16057.1.
    CH471064 Genomic DNA. Translation: EAW68432.1.
    BK000147 mRNA. Translation: DAA00086.1.
    CCDSiCCDS31438.1. [Q9Y6N9-1]
    CCDS7825.1. [Q9Y6N9-5]
    RefSeqiNP_005700.2. NM_005709.3. [Q9Y6N9-1]
    NP_710142.1. NM_153676.3. [Q9Y6N9-5]
    XP_005252782.1. XM_005252725.2. [Q9Y6N9-4]
    UniGeneiHs.502072.

    Genome annotation databases

    EnsembliENST00000005226; ENSP00000005226; ENSG00000006611. [Q9Y6N9-5]
    ENST00000318024; ENSP00000317018; ENSG00000006611. [Q9Y6N9-1]
    ENST00000526313; ENSP00000432236; ENSG00000006611. [Q9Y6N9-3]
    ENST00000527020; ENSP00000436934; ENSG00000006611. [Q9Y6N9-4]
    ENST00000527720; ENSP00000432944; ENSG00000006611. [Q9Y6N9-2]
    GeneIDi10083.
    KEGGihsa:10083.
    UCSCiuc001mnd.3. human. [Q9Y6N9-1]
    uc001mne.3. human. [Q9Y6N9-5]
    uc009yhb.3. human. [Q9Y6N9-4]

    Polymorphism databases

    DMDMi160113087.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Web resourcesi

    Mutations of the USH1C gene

    Retina International's Scientific Newsletter

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF039700 mRNA. Translation: AAC18049.1 . Frameshift.
    AF039699 mRNA. Translation: AAC18048.1 .
    AB006955 mRNA. Translation: BAA81739.1 .
    AB018687 mRNA. Translation: BAA81740.1 .
    AK290788 mRNA. Translation: BAF83477.1 .
    AC124799 Genomic DNA. No translation available.
    BC016057 mRNA. Translation: AAH16057.1 .
    CH471064 Genomic DNA. Translation: EAW68432.1 .
    BK000147 mRNA. Translation: DAA00086.1 .
    CCDSi CCDS31438.1. [Q9Y6N9-1 ]
    CCDS7825.1. [Q9Y6N9-5 ]
    RefSeqi NP_005700.2. NM_005709.3. [Q9Y6N9-1 ]
    NP_710142.1. NM_153676.3. [Q9Y6N9-5 ]
    XP_005252782.1. XM_005252725.2. [Q9Y6N9-4 ]
    UniGenei Hs.502072.

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    Entry Method Resolution (Å) Chain Positions PDBsum
    1X5N NMR - A 201-301 [» ]
    2KBQ NMR - A 1-80 [» ]
    2KBR NMR - A 1-80 [» ]
    2KBS NMR - A 208-299 [» ]
    2LSR NMR - A 1-80 [» ]
    3K1R X-ray 2.30 A 1-192 [» ]
    ProteinModelPortali Q9Y6N9.
    SMRi Q9Y6N9. Positions 1-301, 441-552.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 115392. 8 interactions.
    DIPi DIP-41473N.
    IntActi Q9Y6N9. 2 interactions.
    MINTi MINT-196953.
    STRINGi 9606.ENSP00000005226.

    PTM databases

    PhosphoSitei Q9Y6N9.

    Polymorphism databases

    DMDMi 160113087.

    Proteomic databases

    MaxQBi Q9Y6N9.
    PaxDbi Q9Y6N9.
    PRIDEi Q9Y6N9.

    Protocols and materials databases

    DNASUi 10083.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000005226 ; ENSP00000005226 ; ENSG00000006611 . [Q9Y6N9-5 ]
    ENST00000318024 ; ENSP00000317018 ; ENSG00000006611 . [Q9Y6N9-1 ]
    ENST00000526313 ; ENSP00000432236 ; ENSG00000006611 . [Q9Y6N9-3 ]
    ENST00000527020 ; ENSP00000436934 ; ENSG00000006611 . [Q9Y6N9-4 ]
    ENST00000527720 ; ENSP00000432944 ; ENSG00000006611 . [Q9Y6N9-2 ]
    GeneIDi 10083.
    KEGGi hsa:10083.
    UCSCi uc001mnd.3. human. [Q9Y6N9-1 ]
    uc001mne.3. human. [Q9Y6N9-5 ]
    uc009yhb.3. human. [Q9Y6N9-4 ]

    Organism-specific databases

    CTDi 10083.
    GeneCardsi GC11M017515.
    GeneReviewsi USH1C.
    H-InvDB HIX0009478.
    HGNCi HGNC:12597. USH1C.
    HPAi CAB013690.
    HPA027398.
    HPA027492.
    HPA028033.
    MIMi 276900. phenotype.
    276904. phenotype.
    602092. phenotype.
    605242. gene.
    neXtProti NX_Q9Y6N9.
    Orphaneti 90636. Autosomal recessive nonsyndromic sensorineural deafness type DFNB.
    231169. Usher syndrome type 1.
    PharmGKBi PA37226.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG255885.
    HOGENOMi HOG000126890.
    HOVERGENi HBG057181.
    OMAi EDWEAKN.
    OrthoDBi EOG75MVW2.
    PhylomeDBi Q9Y6N9.
    TreeFami TF325033.

    Miscellaneous databases

    EvolutionaryTracei Q9Y6N9.
    GeneWikii USH1C.
    GenomeRNAii 10083.
    NextBioi 38119.
    PROi Q9Y6N9.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q9Y6N9.
    Bgeei Q9Y6N9.
    CleanExi HS_USH1C.
    Genevestigatori Q9Y6N9.

    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

    1. "Characterization of human colon cancer antigens recognized by autologous antibodies."
      Scanlan M.J., Chen Y.-T., Williamson B., Gure A.O., Stockert E., Gordan J.D., Tuereci O., Sahin U., Pfreundschuh M., Old L.J.
      Int. J. Cancer 76:652-658(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 3), VARIANT ASP-519.
      Tissue: Colon cancer.
    2. Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2).
      Tissue: Duodenum.
    3. "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] (ISOFORM 1), VARIANT ASP-519.
      Tissue: Kidney.
    4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    5. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    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 4), VARIANT ASP-519.
      Tissue: Colon.
    7. Cited for: IDENTIFICATION AS A RENAL CANCER ANTIGEN.
      Tissue: Renal cell carcinoma.
    8. "A defect in harmonin, a PDZ domain-containing protein expressed in the inner ear sensory hair cells, underlies Usher syndrome type 1C."
      Verpy E., Leibovici M., Zwaenepoel I., Liu X.-Z., Gal A., Salem N., Mansour A., Blanchard S., Kobayashi I., Keats B.J.B., Slim R., Petit C.
      Nat. Genet. 26:51-55(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: INVOLVEMENT IN USH1C, ALTERNATIVE SPLICING (ISOFORM 5).
    9. "Interaction of MCC2, a novel homologue of MCC tumor suppressor, with PDZ-domain protein AIE-75."
      Ishikawa S., Kobayashi I., Hamada J., Tada M., Hirai A., Furuuchi K., Takahashi Y., Ba Y., Moriuchi T.
      Gene 267:101-110(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH USHBP1.
    10. "Nonsyndromic recessive deafness DFNB18 and Usher syndrome type IC are allelic mutations of USHIC."
      Ahmed Z.M., Smith T.N., Riazuddin S., Makishima T., Ghosh M., Bokhari S., Menon P.S., Deshmukh D., Griffith A.J., Riazuddin S., Friedman T.B., Wilcox E.R.
      Hum. Genet. 110:527-531(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: INVOLVEMENT IN DFNB18A.
    11. "Usher syndrome type I G (USH1G) is caused by mutations in the gene encoding SANS, a protein that associates with the USH1C protein, harmonin."
      Weil D., El-Amraoui A., Masmoudi S., Mustapha M., Kikkawa Y., Laine S., Delmaghani S., Adato A., Nadifi S., Zina Z.B., Hamel C., Gal A., Ayadi H., Yonekawa H., Petit C.
      Hum. Mol. Genet. 12:463-471(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH USH1G/SANS, TISSUE SPECIFICITY.
    12. Cited for: SPLICE ISOFORM(S) THAT ARE POTENTIAL NMD TARGET(S).
    13. "Scaffold protein harmonin (USH1C) provides molecular links between Usher syndrome type 1 and type 2."
      Reiners J., van Wijk E., Maerker T., Zimmermann U., Juergens K., te Brinke H., Overlack N., Roepman R., Knipper M., Kremer H., Wolfrum U.
      Hum. Mol. Genet. 14:3933-3943(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH SLC4A7 AND USH2A.
    14. "Myosin VIIa and sans localization at stereocilia upper tip-link density implicates these Usher syndrome proteins in mechanotransduction."
      Grati M., Kachar B.
      Proc. Natl. Acad. Sci. U.S.A. 108:11476-11481(2011) [PubMed] [Europe PMC] [Abstract]
      Cited for: SUBCELLULAR LOCATION, IDENTIFICATION IN A COMPLEX WITH MYO7A AND USH1G.
    15. "Solution structure of the second PDZ domain of harmonin protein."
      RIKEN structural genomics initiative (RSGI)
      Submitted (NOV-2005) to the PDB data bank
      Cited for: STRUCTURE BY NMR OF 197-301.
    16. "Assembling stable hair cell tip link complex via multidentate interactions between harmonin and cadherin 23."
      Pan L., Yan J., Wu L., Zhang M.
      Proc. Natl. Acad. Sci. U.S.A. 106:5575-5580(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: STRUCTURE BY NMR OF 1-80 AND 208-299 IN COMPLEX WITH CDH23, SUBCELLULAR LOCATION, INTERACTION WITH CDH23.
    17. "The structure of the harmonin/sans complex reveals an unexpected interaction mode of the two Usher syndrome proteins."
      Yan J., Pan L., Chen X., Wu L., Zhang M.
      Proc. Natl. Acad. Sci. U.S.A. 107:4040-4045(2010) [PubMed] [Europe PMC] [Abstract]
      Cited for: X-RAY CRYSTALLOGRAPHY (2.3 ANGSTROMS) OF 1-192 IN COMPLEX WITH USH1G, INTERACTION WITH USH1G, MUTAGENESIS OF ARG-103, DOMAIN, SUBCELLULAR LOCATION.

    Entry informationi

    Entry nameiUSH1C_HUMAN
    AccessioniPrimary (citable) accession number: Q9Y6N9
    Secondary accession number(s): A8K423
    , Q7RTU8, Q96B29, Q9UM04, Q9UM17, Q9UPC3
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: January 23, 2002
    Last sequence update: November 13, 2007
    Last modified: October 1, 2014
    This is version 134 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 11
      Human chromosome 11: 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

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