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Protein

Cochlin

Gene

COCH

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: 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 - Molecular functioni

  • collagen binding Source: UniProtKB

GO - Biological processi

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

Keywords - Biological processi

Hearing

Enzyme and pathway databases

BioCyciZFISH:ENSG00000100473-MONOMER.

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
Proteomesi
  • UP000005640 Componenti: Chromosome 14

Organism-specific databases

HGNCiHGNC:2180. COCH.

Subcellular locationi

GO - Cellular componenti

  • extracellular exosome Source: UniProtKB
  • extracellular matrix Source: UniProtKB
  • proteinaceous extracellular matrix Source: UniProtKB-SubCell
Complete GO annotation...

Keywords - Cellular componenti

Extracellular matrix, Secreted

Pathology & Biotechi

Involvement in diseasei

Deafness, autosomal dominant, 9 (DFNA9)11 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:601369
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_00853251P → S in DFNA9; some families may manifest Meniere disease-like symptoms; does not affect protein deposition to the extracellular matrix. 3 PublicationsCorresponds to variant rs28938175dbSNPEnsembl.1
Natural variantiVAR_00853366V → G in DFNA9; affects protein deposition to the extracellular matrix. 2 PublicationsCorresponds to variant rs121908927dbSNPEnsembl.1
Natural variantiVAR_07224987G → V in DFNA9. 1 Publication1
Natural variantiVAR_07225087G → W in DFNA9. 1 Publication1
Natural variantiVAR_00853488G → E in DFNA9; affects protein deposition to the extracellular matrix. 2 PublicationsCorresponds to variant rs121908928dbSNPEnsembl.1
Natural variantiVAR_008535109I → N in DFNA9; affects protein deposition to the extracellular matrix. 2 PublicationsCorresponds to variant rs121908930dbSNPEnsembl.1
Natural variantiVAR_072251109I → T in DFNA9. 1 Publication1
Natural variantiVAR_008536117W → R in DFNA9; does not affect protein deposition to the extracellular matrix. 2 PublicationsCorresponds to variant rs121908929dbSNPEnsembl.1
Natural variantiVAR_017175119A → T in DFNA9. 1 PublicationCorresponds to variant rs121908931dbSNPEnsembl.1
Natural variantiVAR_070034162C → Y in DFNA9. 1 Publication1
Natural variantiVAR_072252512M → T in DFNA9. 1 PublicationCorresponds to variant rs121908934dbSNPEnsembl.1
Natural variantiVAR_072253527F → C in DFNA9; induces disulfide bond dimer formation; keeps dimer in the cell and reduces secretion; monomeric and/or homodimeric mutant forms do not prevent interaction with type II collagen. 1 Publication1
Natural variantiVAR_072254542C → Y in DFNA9. 1 PublicationCorresponds to variant rs121908932dbSNPEnsembl.1

Keywords - Diseasei

Deafness, Disease mutation, Non-syndromic deafness

Organism-specific databases

DisGeNETi1690.
MalaCardsiCOCH.
MIMi601369. phenotype.
OpenTargetsiENSG00000100473.
Orphaneti90635. Autosomal dominant non-syndromic sensorineural deafness type DFNA.
45360. Meniere disease.
PharmGKBiPA26693.

Polymorphism and mutation databases

BioMutaiCOCH.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 24Sequence analysisAdd BLAST24
ChainiPRO_000002096825 – 550CochlinAdd BLAST526

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Disulfide bondi34 ↔ 50
Disulfide bondi54 ↔ 74
Glycosylationi100N-linked (GlcNAc...)Sequence analysis1
Glycosylationi221N-linked (GlcNAc...)Sequence analysis1

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

EPDiO43405.
MaxQBiO43405.
PaxDbiO43405.
PeptideAtlasiO43405.
PRIDEiO43405.

PTM databases

iPTMnetiO43405.
PhosphoSitePlusiO43405.

Expressioni

Tissue specificityi

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

Gene expression databases

BgeeiENSG00000100473.
CleanExiHS_COCH.
ExpressionAtlasiO43405. baseline and differential.
GenevisibleiO43405. HS.

Organism-specific databases

HPAiHPA065086.

Interactioni

Subunit structurei

Monomer (PubMed:22610276). May form homodimer (PubMed:22610276). Interacts with type II collagen (PubMed:22610276). Interacts with SLC44A2 (PubMed:17926100). Interacts with ANXA2 (PubMed:21886777).3 Publications

GO - Molecular functioni

  • collagen binding Source: UniProtKB

Protein-protein interaction databases

BioGridi108051. 14 interactors.
IntActiO43405. 3 interactors.
STRINGi9606.ENSP00000216361.

Structurei

Secondary structure

1550
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Turni38 – 40Combined sources3
Beta strandi43 – 50Combined sources8
Beta strandi56 – 58Combined sources3
Beta strandi61 – 68Combined sources8
Helixi73 – 80Combined sources8
Beta strandi88 – 95Combined sources8
Beta strandi110 – 112Combined sources3
Beta strandi120 – 124Combined sources5

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1JBINMR-A28-124[»]
ProteinModelPortaliO43405.
SMRiO43405.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiO43405.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini28 – 121LCCLPROSITE-ProRule annotationAdd BLAST94
Domaini165 – 346VWFA 1PROSITE-ProRule annotationAdd BLAST182
Domaini367 – 537VWFA 2PROSITE-ProRule annotationAdd BLAST171

Sequence similaritiesi

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

Keywords - Domaini

Repeat, Signal

Phylogenomic databases

eggNOGiENOG410IR8D. Eukaryota.
ENOG410XRIU. LUCA.
GeneTreeiENSGT00760000119000.
HOGENOMiHOG000013195.
HOVERGENiHBG005372.
InParanoidiO43405.
OMAiVNANGIQ.
OrthoDBiEOG091G002N.
PhylomeDBiO43405.
TreeFamiTF318242.

Family and domain databases

Gene3Di2.170.130.20. 1 hit.
3.40.50.410. 2 hits.
InterProiIPR030743. Cochlin.
IPR004043. LCCL.
IPR002035. VWF_A.
[Graphical view]
PANTHERiPTHR11132:SF83. PTHR11132:SF83. 1 hit.
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. AlignAdd to basket

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)DescriptionActionsGraphical viewLength
Natural variantiVAR_00853251P → S in DFNA9; some families may manifest Meniere disease-like symptoms; does not affect protein deposition to the extracellular matrix. 3 PublicationsCorresponds to variant rs28938175dbSNPEnsembl.1
Natural variantiVAR_00853366V → G in DFNA9; affects protein deposition to the extracellular matrix. 2 PublicationsCorresponds to variant rs121908927dbSNPEnsembl.1
Natural variantiVAR_07224987G → V in DFNA9. 1 Publication1
Natural variantiVAR_07225087G → W in DFNA9. 1 Publication1
Natural variantiVAR_00853488G → E in DFNA9; affects protein deposition to the extracellular matrix. 2 PublicationsCorresponds to variant rs121908928dbSNPEnsembl.1
Natural variantiVAR_008535109I → N in DFNA9; affects protein deposition to the extracellular matrix. 2 PublicationsCorresponds to variant rs121908930dbSNPEnsembl.1
Natural variantiVAR_072251109I → T in DFNA9. 1 Publication1
Natural variantiVAR_008536117W → R in DFNA9; does not affect protein deposition to the extracellular matrix. 2 PublicationsCorresponds to variant rs121908929dbSNPEnsembl.1
Natural variantiVAR_017175119A → T in DFNA9. 1 PublicationCorresponds to variant rs121908931dbSNPEnsembl.1
Natural variantiVAR_022259135G → R.1 PublicationCorresponds to variant rs28400035dbSNPEnsembl.1
Natural variantiVAR_070034162C → Y in DFNA9. 1 Publication1
Natural variantiVAR_022260281D → N.1 PublicationCorresponds to variant rs28362775dbSNPEnsembl.1
Natural variantiVAR_011925352T → S.1 PublicationCorresponds to variant rs1045644dbSNPEnsembl.1
Natural variantiVAR_022261402I → V.1 PublicationCorresponds to variant rs28362778dbSNPEnsembl.1
Natural variantiVAR_072252512M → T in DFNA9. 1 PublicationCorresponds to variant rs121908934dbSNPEnsembl.1
Natural variantiVAR_050896518E → G.Corresponds to variant rs17097468dbSNPEnsembl.1
Natural variantiVAR_072253527F → C in DFNA9; induces disulfide bond dimer formation; keeps dimer in the cell and reduces secretion; monomeric and/or homodimeric mutant forms do not prevent interaction with type II collagen. 1 Publication1
Natural variantiVAR_011926532P → S.Corresponds to variant rs1801963dbSNPEnsembl.1
Natural variantiVAR_072254542C → Y in DFNA9. 1 PublicationCorresponds to variant rs121908932dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_056538493 – 550GITIF…LESQQ → AK in isoform 2. 1 PublicationAdd BLAST58

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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. [O43405-1]
NP_004077.1. NM_004086.2. [O43405-1]
UniGeneiHs.21016.

Genome annotation databases

EnsembliENST00000216361; ENSP00000216361; ENSG00000100473. [O43405-1]
ENST00000396618; ENSP00000379862; ENSG00000100473. [O43405-1]
ENST00000475087; ENSP00000451528; ENSG00000100473. [O43405-2]
GeneIDi1690.
KEGGihsa:1690.
UCSCiuc001wqp.3. 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:
EMBLi
GenBanki
DDBJi
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. [O43405-1]
NP_004077.1. NM_004086.2. [O43405-1]
UniGeneiHs.21016.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1JBINMR-A28-124[»]
ProteinModelPortaliO43405.
SMRiO43405.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi108051. 14 interactors.
IntActiO43405. 3 interactors.
STRINGi9606.ENSP00000216361.

PTM databases

iPTMnetiO43405.
PhosphoSitePlusiO43405.

Polymorphism and mutation databases

BioMutaiCOCH.

Proteomic databases

EPDiO43405.
MaxQBiO43405.
PaxDbiO43405.
PeptideAtlasiO43405.
PRIDEiO43405.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000216361; ENSP00000216361; ENSG00000100473. [O43405-1]
ENST00000396618; ENSP00000379862; ENSG00000100473. [O43405-1]
ENST00000475087; ENSP00000451528; ENSG00000100473. [O43405-2]
GeneIDi1690.
KEGGihsa:1690.
UCSCiuc001wqp.3. human. [O43405-1]

Organism-specific databases

CTDi1690.
DisGeNETi1690.
GeneCardsiCOCH.
GeneReviewsiCOCH.
H-InvDBHIX0023242.
HGNCiHGNC:2180. COCH.
HPAiHPA065086.
MalaCardsiCOCH.
MIMi601369. phenotype.
603196. gene.
neXtProtiNX_O43405.
OpenTargetsiENSG00000100473.
Orphaneti90635. Autosomal dominant non-syndromic sensorineural deafness type DFNA.
45360. Meniere disease.
PharmGKBiPA26693.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IR8D. Eukaryota.
ENOG410XRIU. LUCA.
GeneTreeiENSGT00760000119000.
HOGENOMiHOG000013195.
HOVERGENiHBG005372.
InParanoidiO43405.
OMAiVNANGIQ.
OrthoDBiEOG091G002N.
PhylomeDBiO43405.
TreeFamiTF318242.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000100473-MONOMER.

Miscellaneous databases

ChiTaRSiCOCH. human.
EvolutionaryTraceiO43405.
GeneWikiiCOCH.
GenomeRNAii1690.
PROiO43405.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000100473.
CleanExiHS_COCH.
ExpressionAtlasiO43405. baseline and differential.
GenevisibleiO43405. HS.

Family and domain databases

Gene3Di2.170.130.20. 1 hit.
3.40.50.410. 2 hits.
InterProiIPR030743. Cochlin.
IPR004043. LCCL.
IPR002035. VWF_A.
[Graphical view]
PANTHERiPTHR11132:SF83. PTHR11132:SF83. 1 hit.
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]
ProtoNetiSearch...

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: November 2, 2016
This is version 166 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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.