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O43405

- COCH_HUMAN

UniProt

O43405 - COCH_HUMAN

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Protein

Cochlin

Gene

COCH

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

Functioni

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

GO - Biological processi

  1. defense response to bacterium Source: Ensembl
  2. positive regulation of innate immune response Source: Ensembl
  3. regulation of cell shape Source: UniProtKB
  4. sensory perception of sound Source: ProtInc
Complete GO annotation...

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-KW
Complete GO annotation...

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 non-syndromic 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

BgeeiO43405.
CleanExiHS_COCH.
ExpressionAtlasiO43405. baseline and differential.
GenevestigatoriO43405.

Organism-specific databases

HPAiHPA050122.

Interactioni

Subunit structurei

Interacts with SLC44A2. Interacts with ANXA2.2 Publications

Protein-protein interaction databases

BioGridi108051. 8 interactions.
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, 163-351, 365-548.
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.
GeneTreeiENSGT00760000119000.
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

        10         20         30         40         50
MSAAWIPALG LGVCLLLLPG PAGSEGAAPI AITCFTRGLD IRKEKADVLC
60 70 80 90 100
PGGCPLEEFS VYGNIVYASV SSICGAAVHR GVISNSGGPV RVYSLPGREN
110 120 130 140 150
YSSVDANGIQ SQMLSRWSAS FTVTKGKSST QEATGQAVST AHPPTGKRLK
160 170 180 190 200
KTPEKKTGNK DCKADIAFLI DGSFNIGQRR FNLQKNFVGK VALMLGIGTE
210 220 230 240 250
GPHVGLVQAS EHPKIEFYLK NFTSAKDVLF AIKEVGFRGG NSNTGKALKH
260 270 280 290 300
TAQKFFTVDA GVRKGIPKVV VVFIDGWPSD DIEEAGIVAR EFGVNVFIVS
310 320 330 340 350
VAKPIPEELG MVQDVTFVDK AVCRNNGFFS YHMPNWFGTT KYVKPLVQKL
360 370 380 390 400
CTHEQMMCSK TCYNSVNIAF LIDGSSSVGD SNFRLMLEFV SNIAKTFEIS
410 420 430 440 450
DIGAKIAAVQ FTYDQRTEFS FTDYSTKENV LAVIRNIRYM SGGTATGDAI
460 470 480 490 500
SFTVRNVFGP IRESPNKNFL VIVTDGQSYD DVQGPAAAAH DAGITIFSVG
510 520 530 540 550
VAWAPLDDLK DMASKPKESH AFFTREFTGL EPIVSDVIRG ICRDFLESQQ
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. [O43405-1]
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. [O43405-1]
ENST00000396618; ENSP00000379862; ENSG00000100473. [O43405-1]
ENST00000475087; ENSP00000451528; ENSG00000100473. [O43405-2]
GeneIDi1690.
KEGGihsa:1690.
UCSCiuc001wqp.2. human. [O43405-1]

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. [O43405-1 ]
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, 163-351, 365-548.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 108051. 8 interactions.
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 . [O43405-1 ]
ENST00000396618 ; ENSP00000379862 ; ENSG00000100473 . [O43405-1 ]
ENST00000475087 ; ENSP00000451528 ; ENSG00000100473 . [O43405-2 ]
GeneIDi 1690.
KEGGi hsa:1690.
UCSCi uc001wqp.2. human. [O43405-1 ]

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 non-syndromic sensorineural deafness type DFNA.
45360. Meniere disease.
PharmGKBi PA26693.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG277584.
GeneTreei ENSGT00760000119000.
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

Bgeei O43405.
CleanExi HS_COCH.
ExpressionAtlasi O43405. baseline and differential.
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

« Hide 'large scale' publications
  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 29, 2014
This is version 147 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

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