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O43405

- COCH_HUMAN

UniProt

O43405 - COCH_HUMAN

Protein

Cochlin

Gene

COCH

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 146 (01 Oct 2014)
      Sequence version 1 (01 Jun 1998)
      Previous versions | rss
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    Functioni

    Plays a role in the control of cell shape and motility in the trabecular meshwork.1 Publication

    GO - Molecular functioni

    1. protein binding Source: UniProtKB

    GO - Biological processi

    1. regulation of cell shape Source: UniProtKB
    2. sensory perception of sound Source: ProtInc

    Keywords - Biological processi

    Hearing

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Cochlin
    Alternative name(s):
    COCH-5B2
    Gene namesi
    Name:COCH
    Synonyms:COCH5B2
    ORF Names:UNQ257/PRO294
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 14

    Organism-specific databases

    HGNCiHGNC:2180. COCH.

    Subcellular locationi

    Secretedextracellular spaceextracellular matrix 1 Publication

    GO - Cellular componenti

    1. extracellular vesicular exosome Source: UniProt
    2. proteinaceous extracellular matrix Source: UniProtKB-SubCell

    Keywords - Cellular componenti

    Extracellular matrix, Secreted

    Pathology & Biotechi

    Involvement in diseasei

    Deafness, autosomal dominant, 9 (DFNA9) [MIM:601369]: A form of non-syndromic hearing loss characterized by onset in the fourth or fifth decade of life and initially involves the high frequencies. Hearing loss is progressive and usually complete by the sixth decade. In addition to cochlear involvement, DFNA9 patients also exhibit a spectrum of vestibular dysfunctions. Penetrance of the vestibular symptoms is often incomplete, and some patients are minimally affected, whereas others suffer from severe balance disturbances and episodes of vertigo. Affected individuals have mucopolysaccharide depositions in the channels of the cochlear and vestibular nerves. These depositions apparently cause strangulation and degeneration of dendritic fibers.6 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti51 – 511P → S in DFNA9; some families may manifest Meniere disease-like symptoms; does not affect protein deposition to the extracellular matrix. 2 Publications
    Corresponds to variant rs28938175 [ dbSNP | Ensembl ].
    VAR_008532
    Natural varianti66 – 661V → G in DFNA9; affects protein deposition to the extracellular matrix. 1 Publication
    VAR_008533
    Natural varianti88 – 881G → E in DFNA9; affects protein deposition to the extracellular matrix. 1 Publication
    VAR_008534
    Natural varianti109 – 1091I → N in DFNA9; affects protein deposition to the extracellular matrix. 1 Publication
    VAR_008535
    Natural varianti117 – 1171W → R in DFNA9; does not affect protein deposition to the extracellular matrix. 1 Publication
    VAR_008536
    Natural varianti119 – 1191A → T in DFNA9. 1 Publication
    VAR_017175
    Natural varianti162 – 1621C → Y in DFNA9. 1 Publication
    VAR_070034

    Keywords - Diseasei

    Deafness, Disease mutation, Non-syndromic deafness

    Organism-specific databases

    MIMi601369. phenotype.
    Orphaneti90635. Autosomal dominant nonsyndromic sensorineural deafness type DFNA.
    45360. Meniere disease.
    PharmGKBiPA26693.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Signal peptidei1 – 2424Sequence AnalysisAdd
    BLAST
    Chaini25 – 550526CochlinPRO_0000020968Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Disulfide bondi34 ↔ 50
    Disulfide bondi54 ↔ 74
    Glycosylationi100 – 1001N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi221 – 2211N-linked (GlcNAc...)Sequence Analysis

    Post-translational modificationi

    N-glycosylated.1 Publication
    A 50 kDa form is created by proteolytic cleavage.1 Publication

    Keywords - PTMi

    Disulfide bond, Glycoprotein

    Proteomic databases

    MaxQBiO43405.
    PaxDbiO43405.
    PRIDEiO43405.

    PTM databases

    PhosphoSiteiO43405.

    Expressioni

    Tissue specificityi

    Expressed in inner ear structures; the cochlea and the vestibule.

    Gene expression databases

    ArrayExpressiO43405.
    BgeeiO43405.
    CleanExiHS_COCH.
    GenevestigatoriO43405.

    Organism-specific databases

    HPAiHPA050122.

    Interactioni

    Subunit structurei

    Interacts with SLC44A2. Interacts with ANXA2.2 Publications

    Protein-protein interaction databases

    BioGridi108051. 1 interaction.
    IntActiO43405. 3 interactions.
    STRINGi9606.ENSP00000216361.

    Structurei

    Secondary structure

    1
    550
    Legend: HelixTurnBeta strand
    Show more details
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Turni38 – 403
    Beta strandi43 – 508
    Beta strandi56 – 583
    Beta strandi61 – 688
    Helixi73 – 808
    Beta strandi88 – 958
    Beta strandi110 – 1123
    Beta strandi120 – 1245

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    EntryMethodResolution (Å)ChainPositionsPDBsum
    1JBINMR-A28-124[»]
    ProteinModelPortaliO43405.
    SMRiO43405. Positions 28-124, 161-548.
    ModBaseiSearch...
    MobiDBiSearch...

    Miscellaneous databases

    EvolutionaryTraceiO43405.

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini28 – 12194LCCLPROSITE-ProRule annotationAdd
    BLAST
    Domaini165 – 346182VWFA 1PROSITE-ProRule annotationAdd
    BLAST
    Domaini367 – 537171VWFA 2PROSITE-ProRule annotationAdd
    BLAST

    Sequence similaritiesi

    Contains 1 LCCL domain.PROSITE-ProRule annotation
    Contains 2 VWFA domains.PROSITE-ProRule annotation

    Keywords - Domaini

    Repeat, Signal

    Phylogenomic databases

    eggNOGiNOG277584.
    HOGENOMiHOG000013195.
    HOVERGENiHBG005372.
    InParanoidiO43405.
    OMAiAQKFFTA.
    OrthoDBiEOG71RXJM.
    PhylomeDBiO43405.
    TreeFamiTF318242.

    Family and domain databases

    Gene3Di2.170.130.20. 1 hit.
    3.40.50.410. 2 hits.
    InterProiIPR004043. LCCL.
    IPR002035. VWF_A.
    [Graphical view]
    PfamiPF03815. LCCL. 1 hit.
    PF00092. VWA. 2 hits.
    [Graphical view]
    SMARTiSM00603. LCCL. 1 hit.
    SM00327. VWA. 2 hits.
    [Graphical view]
    SUPFAMiSSF53300. SSF53300. 2 hits.
    SSF69848. SSF69848. 1 hit.
    PROSITEiPS50820. LCCL. 1 hit.
    PS50234. VWFA. 2 hits.
    [Graphical view]

    Sequences (2)i

    Sequence statusi: Complete.

    Sequence processingi: The displayed sequence is further processed into a mature form.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: O43405-1) [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

    MSAAWIPALG LGVCLLLLPG PAGSEGAAPI AITCFTRGLD IRKEKADVLC    50
    PGGCPLEEFS VYGNIVYASV SSICGAAVHR GVISNSGGPV RVYSLPGREN 100
    YSSVDANGIQ SQMLSRWSAS FTVTKGKSST QEATGQAVST AHPPTGKRLK 150
    KTPEKKTGNK DCKADIAFLI DGSFNIGQRR FNLQKNFVGK VALMLGIGTE 200
    GPHVGLVQAS EHPKIEFYLK NFTSAKDVLF AIKEVGFRGG NSNTGKALKH 250
    TAQKFFTVDA GVRKGIPKVV VVFIDGWPSD DIEEAGIVAR EFGVNVFIVS 300
    VAKPIPEELG MVQDVTFVDK AVCRNNGFFS YHMPNWFGTT KYVKPLVQKL 350
    CTHEQMMCSK TCYNSVNIAF LIDGSSSVGD SNFRLMLEFV SNIAKTFEIS 400
    DIGAKIAAVQ FTYDQRTEFS FTDYSTKENV LAVIRNIRYM SGGTATGDAI 450
    SFTVRNVFGP IRESPNKNFL VIVTDGQSYD DVQGPAAAAH DAGITIFSVG 500
    VAWAPLDDLK DMASKPKESH AFFTREFTGL EPIVSDVIRG ICRDFLESQQ 550
    Length:550
    Mass (Da):59,483
    Last modified:June 1, 1998 - v1
    Checksum:i74D7D51290098B30
    GO
    Isoform 2 (identifier: O43405-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         493-550: GITIFSVGVAWAPLDDLKDMASKPKESHAFFTREFTGLEPIVSDVIRGICRDFLESQQ → AK

    Note: No experimental confirmation available.

    Show »
    Length:494
    Mass (Da):53,230
    Checksum:i9920EEF97A0AF2FF
    GO

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti51 – 511P → S in DFNA9; some families may manifest Meniere disease-like symptoms; does not affect protein deposition to the extracellular matrix. 2 Publications
    Corresponds to variant rs28938175 [ dbSNP | Ensembl ].
    VAR_008532
    Natural varianti66 – 661V → G in DFNA9; affects protein deposition to the extracellular matrix. 1 Publication
    VAR_008533
    Natural varianti88 – 881G → E in DFNA9; affects protein deposition to the extracellular matrix. 1 Publication
    VAR_008534
    Natural varianti109 – 1091I → N in DFNA9; affects protein deposition to the extracellular matrix. 1 Publication
    VAR_008535
    Natural varianti117 – 1171W → R in DFNA9; does not affect protein deposition to the extracellular matrix. 1 Publication
    VAR_008536
    Natural varianti119 – 1191A → T in DFNA9. 1 Publication
    VAR_017175
    Natural varianti135 – 1351G → R.1 Publication
    Corresponds to variant rs28400035 [ dbSNP | Ensembl ].
    VAR_022259
    Natural varianti162 – 1621C → Y in DFNA9. 1 Publication
    VAR_070034
    Natural varianti281 – 2811D → N.1 Publication
    Corresponds to variant rs28362775 [ dbSNP | Ensembl ].
    VAR_022260
    Natural varianti352 – 3521T → S.1 Publication
    Corresponds to variant rs1045644 [ dbSNP | Ensembl ].
    VAR_011925
    Natural varianti402 – 4021I → V.1 Publication
    Corresponds to variant rs28362778 [ dbSNP | Ensembl ].
    VAR_022261
    Natural varianti518 – 5181E → G.
    Corresponds to variant rs17097468 [ dbSNP | Ensembl ].
    VAR_050896
    Natural varianti532 – 5321P → S.
    Corresponds to variant rs1801963 [ dbSNP | Ensembl ].
    VAR_011926

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei493 – 55058GITIF…LESQQ → AK in isoform 2. 1 PublicationVSP_056538Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF006740 mRNA. Translation: AAC39545.1.
    AY358900 mRNA. Translation: AAQ89259.1.
    AK292724 mRNA. Translation: BAF85413.1.
    AY916789 Genomic DNA. Translation: AAW82432.1.
    AL049830 Genomic DNA. No translation available.
    CH471078 Genomic DNA. Translation: EAW65963.1.
    CH471078 Genomic DNA. Translation: EAW65964.1.
    CH471078 Genomic DNA. Translation: EAW65965.1.
    BC007230 mRNA. Translation: AAH07230.1.
    CCDSiCCDS9640.1.
    RefSeqiNP_001128530.1. NM_001135058.1.
    NP_004077.1. NM_004086.2.
    XP_006720136.1. XM_006720073.1.
    UniGeneiHs.21016.

    Genome annotation databases

    EnsembliENST00000216361; ENSP00000216361; ENSG00000100473.
    ENST00000396618; ENSP00000379862; ENSG00000100473.
    ENST00000475087; ENSP00000451528; ENSG00000100473.
    GeneIDi1690.
    KEGGihsa:1690.
    UCSCiuc001wqp.2. human.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Web resourcesi

    Protein Spotlight

    The Japanese Horseshoe Crab and Deafness - Issue 4 of November 2000

    Hereditary hearing loss homepage

    Gene page

    SeattleSNPs

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF006740 mRNA. Translation: AAC39545.1 .
    AY358900 mRNA. Translation: AAQ89259.1 .
    AK292724 mRNA. Translation: BAF85413.1 .
    AY916789 Genomic DNA. Translation: AAW82432.1 .
    AL049830 Genomic DNA. No translation available.
    CH471078 Genomic DNA. Translation: EAW65963.1 .
    CH471078 Genomic DNA. Translation: EAW65964.1 .
    CH471078 Genomic DNA. Translation: EAW65965.1 .
    BC007230 mRNA. Translation: AAH07230.1 .
    CCDSi CCDS9640.1.
    RefSeqi NP_001128530.1. NM_001135058.1.
    NP_004077.1. NM_004086.2.
    XP_006720136.1. XM_006720073.1.
    UniGenei Hs.21016.

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    Entry Method Resolution (Å) Chain Positions PDBsum
    1JBI NMR - A 28-124 [» ]
    ProteinModelPortali O43405.
    SMRi O43405. Positions 28-124, 161-548.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 108051. 1 interaction.
    IntActi O43405. 3 interactions.
    STRINGi 9606.ENSP00000216361.

    PTM databases

    PhosphoSitei O43405.

    Proteomic databases

    MaxQBi O43405.
    PaxDbi O43405.
    PRIDEi O43405.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000216361 ; ENSP00000216361 ; ENSG00000100473 .
    ENST00000396618 ; ENSP00000379862 ; ENSG00000100473 .
    ENST00000475087 ; ENSP00000451528 ; ENSG00000100473 .
    GeneIDi 1690.
    KEGGi hsa:1690.
    UCSCi uc001wqp.2. human.

    Organism-specific databases

    CTDi 1690.
    GeneCardsi GC14P031343.
    GeneReviewsi COCH.
    H-InvDB HIX0023242.
    HGNCi HGNC:2180. COCH.
    HPAi HPA050122.
    MIMi 601369. phenotype.
    603196. gene.
    neXtProti NX_O43405.
    Orphaneti 90635. Autosomal dominant nonsyndromic sensorineural deafness type DFNA.
    45360. Meniere disease.
    PharmGKBi PA26693.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG277584.
    HOGENOMi HOG000013195.
    HOVERGENi HBG005372.
    InParanoidi O43405.
    OMAi AQKFFTA.
    OrthoDBi EOG71RXJM.
    PhylomeDBi O43405.
    TreeFami TF318242.

    Miscellaneous databases

    ChiTaRSi COCH. human.
    EvolutionaryTracei O43405.
    GeneWikii COCH.
    GenomeRNAii 1690.
    NextBioi 6926.
    PROi O43405.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi O43405.
    Bgeei O43405.
    CleanExi HS_COCH.
    Genevestigatori O43405.

    Family and domain databases

    Gene3Di 2.170.130.20. 1 hit.
    3.40.50.410. 2 hits.
    InterProi IPR004043. LCCL.
    IPR002035. VWF_A.
    [Graphical view ]
    Pfami PF03815. LCCL. 1 hit.
    PF00092. VWA. 2 hits.
    [Graphical view ]
    SMARTi SM00603. LCCL. 1 hit.
    SM00327. VWA. 2 hits.
    [Graphical view ]
    SUPFAMi SSF53300. SSF53300. 2 hits.
    SSF69848. SSF69848. 1 hit.
    PROSITEi PS50820. LCCL. 1 hit.
    PS50234. VWFA. 2 hits.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Mapping and characterization of a novel cochlear gene in human and in mouse: a positional candidate gene for a deafness disorder, DFNA9."
      Robertson N.G., Skvorak A.B., Yin Y., Weremowicz S., Johnson K.R., Kovatch K.A., Battey J.F., Bieber F.R., Morton C.C.
      Genomics 46:345-354(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
      Tissue: Cochlea.
    2. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    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).
      Tissue: Kidney.
    4. SeattleSNPs variation discovery resource
      Submitted (FEB-2005) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS ARG-135; ASN-281; SER-352 AND VAL-402.
    5. "The DNA sequence and analysis of human chromosome 14."
      Heilig R., Eckenberg R., Petit J.-L., Fonknechten N., Da Silva C., Cattolico L., Levy M., Barbe V., De Berardinis V., Ureta-Vidal A., Pelletier E., Vico V., Anthouard V., Rowen L., Madan A., Qin S., Sun H., Du H.
      , Pepin K., Artiguenave F., Robert C., Cruaud C., Bruels T., Jaillon O., Friedlander L., Samson G., Brottier P., Cure S., Segurens B., Aniere F., Samain S., Crespeau H., Abbasi N., Aiach N., Boscus D., Dickhoff R., Dors M., Dubois I., Friedman C., Gouyvenoux M., James R., Madan A., Mairey-Estrada B., Mangenot S., Martins N., Menard M., Oztas S., Ratcliffe A., Shaffer T., Trask B., Vacherie B., Bellemere C., Belser C., Besnard-Gonnet M., Bartol-Mavel D., Boutard M., Briez-Silla S., Combette S., Dufosse-Laurent V., Ferron C., Lechaplais C., Louesse C., Muselet D., Magdelenat G., Pateau E., Petit E., Sirvain-Trukniewicz P., Trybou A., Vega-Czarny N., Bataille E., Bluet E., Bordelais I., Dubois M., Dumont C., Guerin T., Haffray S., Hammadi R., Muanga J., Pellouin V., Robert D., Wunderle E., Gauguet G., Roy A., Sainte-Marthe L., Verdier J., Verdier-Discala C., Hillier L.W., Fulton L., McPherson J., Matsuda F., Wilson R., Scarpelli C., Gyapay G., Wincker P., Saurin W., Quetier F., Waterston R., Hood L., Weissenbach J.
      Nature 421:601-607(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    6. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    7. "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 2).
      Tissue: Lung.
    8. "Subcellular localisation, secretion, and post-translational processing of normal cochlin, and of mutants causing the sensorineural deafness and vestibular disorder, DFNA9."
      Robertson N.G., Hamaker S.A., Patriub V., Aster J.C., Morton C.C.
      J. Med. Genet. 40:479-486(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: GLYCOSYLATION, SUBCELLULAR LOCATION, PROTEOLYTIC PROCESSING.
    9. Cited for: INTERACTION WITH SLC44A2.
    10. "Cochlin induced TREK-1 co-expression and annexin A2 secretion: role in trabecular meshwork cell elongation and motility."
      Goel M., Sienkiewicz A.E., Picciani R., Lee R.K., Bhattacharya S.K.
      PLoS ONE 6:E23070-E23070(2011) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, INTERACTION WITH ANXA2.
    11. "NMR structure of the LCCL domain and implications for DFNA9 deafness disorder."
      Liepinsh E., Trexler M., Kaikkonen A., Weigelt J., Banyai L., Patthy L., Otting G.
      EMBO J. 20:5347-5353(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: STRUCTURE BY NMR OF 27-126.
    12. Cited for: VARIANTS DFNA9 GLY-66; GLU-88 AND ARG-117.
    13. "A Pro51Ser mutation in the COCH gene is associated with late onset autosomal dominant progressive sensorineural hearing loss with vestibular defects."
      de Kok Y.J.M., Bom S.J.H., Brunt T.M., Kemperman M.H., van Beusekom E., van der Velde-Visser S.D., Robertson N.G., Morton C.C., Huygen P.L.M., Verhagen W.I.M., Brunner H.G., Cremers C.W.R.J., Cremers F.P.M.
      Hum. Mol. Genet. 8:361-366(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT DFNA9 SER-51.
    14. Cited for: VARIANT DFNA9 SER-51.
    15. "Identification of a novel COCH mutation, I109N, highlights the similar clinical features observed in DFNA9 families."
      Kamarinos M., McGill J., Lynch M., Dahl H.-H.M.
      Hum. Mutat. 17:351-351(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT DFNA9 ASN-109.
    16. Erratum
      Kamarinos M., McGill J., Lynch M., Dahl H.-H.M.
      Hum. Mutat. 18:547-548(2001)
    17. "Mutations in the COCH gene are a frequent cause of autosomal dominant progressive cochleo-vestibular dysfunction, but not of Meniere's disease."
      Usami S., Takahashi K., Yuge I., Ohtsuka A., Namba A., Abe S., Fransen E., Patthy L., Otting G., Van Camp G.
      Eur. J. Hum. Genet. 11:744-748(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT DFNA9 THR-119.
    18. "Mutations in COCH that result in non-syndromic autosomal dominant deafness (DFNA9) affect matrix deposition of cochlin."
      Grabski R., Szul T., Sasaki T., Timpl R., Mayne R., Hicks B., Sztul E.
      Hum. Genet. 113:406-416(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: CHARACTERIZATION OF VARIANTS DFNA9 SER-51; GLY-66; GLU-88; ASN-109 AND ARG-117.
    19. "Whole exome sequencing identifies a novel DFNA9 mutation, C162Y."
      Gao J., Xue J., Chen L., Ke X., Qi Y., Liu Y.
      Clin. Genet. 83:477-481(2013) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT DFNA9 TYR-162.

    Entry informationi

    Entry nameiCOCH_HUMAN
    AccessioniPrimary (citable) accession number: O43405
    Secondary accession number(s): A8K9K9, D3DS84, Q96IU6
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: May 30, 2000
    Last sequence update: June 1, 1998
    Last modified: October 1, 2014
    This is version 146 of the entry and version 1 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 14
      Human chromosome 14: 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. Protein Spotlight
      Protein Spotlight articles and cited UniProtKB/Swiss-Prot entries
    7. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3