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UniProtKB - O43405 (COCH_HUMAN)

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Protein

Cochlin

Gene

COCH

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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
View the complete GO annotation on QuickGO ...

GO - Biological processi

  • defense response to bacterium Source: InterPro
  • positive regulation of innate immune response Source: InterPro
  • regulation of cell shape Source: UniProtKB
  • sensory perception of sound Source: ProtInc
View the complete GO annotation on QuickGO ...

Keywordsi

Biological processHearing

Protein family/group databases

TCDBi8.A.54.1.3 the integrin (integrin) family

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 lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome 14

Organism-specific databases

EuPathDBiHostDB:ENSG00000100473.15
HGNCiHGNC:2180 COCH
MIMi603196 gene
neXtProtiNX_O43405

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Extracellular matrix, Secreted

Pathology & Biotechi

Involvement in diseasei

Deafness, autosomal dominant, 9 (DFNA9)13 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_07987638G → D in DFNA9. 1 Publication1
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 dbSNP:rs28938175EnsemblClinVar.1
Natural variantiVAR_00853366V → G in DFNA9; affects protein deposition to the extracellular matrix. 2 PublicationsCorresponds to variant dbSNP:rs121908927EnsemblClinVar.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 dbSNP:rs121908928EnsemblClinVar.1
Natural variantiVAR_008535109I → N in DFNA9; affects protein deposition to the extracellular matrix. 2 PublicationsCorresponds to variant dbSNP:rs121908930EnsemblClinVar.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 dbSNP:rs121908929EnsemblClinVar.1
Natural variantiVAR_017175119A → T in DFNA9. 1 PublicationCorresponds to variant dbSNP:rs121908931EnsemblClinVar.1
Natural variantiVAR_070034162C → Y in DFNA9. 1 Publication1
Natural variantiVAR_072252512M → T in DFNA9. 1 PublicationCorresponds to variant dbSNP:rs121908934EnsemblClinVar.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 dbSNP:rs121908932EnsemblClinVar.1

Keywords - Diseasei

Deafness, Disease mutation, Non-syndromic deafness

Organism-specific databases

DisGeNETi1690
GeneReviewsiCOCH
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...) asparagineSequence analysis1
Glycosylationi221N-linked (GlcNAc...) asparagineSequence 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
ProteomicsDBi48929

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

Protein-protein interaction databases

BioGridi108051, 17 interactors
IntActiO43405, 3 interactors
MINTiO43405
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

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

Keywords - Domaini

Repeat, Signal

Phylogenomic databases

eggNOGiENOG410IR8D Eukaryota
ENOG410XRIU LUCA
GeneTreeiENSGT00760000119000
HOGENOMiHOG000013195
HOVERGENiHBG005372
InParanoidiO43405
OMAiAQKFFTA
OrthoDBiEOG091G002N
PhylomeDBiO43405
TreeFamiTF318242

Family and domain databases

Gene3Di2.170.130.20, 1 hit
3.40.50.410, 2 hits
InterProiView protein in InterPro
IPR030743 Cochlin
IPR004043 LCCL
IPR036609 LCCL_sf
IPR002035 VWF_A
IPR036465 vWFA_dom_sf
PANTHERiPTHR44729 PTHR44729, 1 hit
PfamiView protein in Pfam
PF03815 LCCL, 1 hit
PF00092 VWA, 2 hits
SMARTiView protein in SMART
SM00603 LCCL, 1 hit
SM00327 VWA, 2 hits
SUPFAMiSSF53300 SSF53300, 2 hits
SSF69848 SSF69848, 1 hit
PROSITEiView protein in PROSITE
PS50820 LCCL, 1 hit
PS50234 VWFA, 2 hits

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_07987638G → D in DFNA9. 1 Publication1
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 dbSNP:rs28938175EnsemblClinVar.1
Natural variantiVAR_00853366V → G in DFNA9; affects protein deposition to the extracellular matrix. 2 PublicationsCorresponds to variant dbSNP:rs121908927EnsemblClinVar.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 dbSNP:rs121908928EnsemblClinVar.1
Natural variantiVAR_008535109I → N in DFNA9; affects protein deposition to the extracellular matrix. 2 PublicationsCorresponds to variant dbSNP:rs121908930EnsemblClinVar.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 dbSNP:rs121908929EnsemblClinVar.1
Natural variantiVAR_017175119A → T in DFNA9. 1 PublicationCorresponds to variant dbSNP:rs121908931EnsemblClinVar.1
Natural variantiVAR_022259135G → R1 PublicationCorresponds to variant dbSNP:rs28400035Ensembl.1
Natural variantiVAR_070034162C → Y in DFNA9. 1 Publication1
Natural variantiVAR_022260281D → N1 PublicationCorresponds to variant dbSNP:rs28362775EnsemblClinVar.1
Natural variantiVAR_011925352T → S1 PublicationCorresponds to variant dbSNP:rs1045644EnsemblClinVar.1
Natural variantiVAR_022261402I → V1 PublicationCorresponds to variant dbSNP:rs28362778EnsemblClinVar.1
Natural variantiVAR_072252512M → T in DFNA9. 1 PublicationCorresponds to variant dbSNP:rs121908934EnsemblClinVar.1
Natural variantiVAR_050896518E → G. Corresponds to variant dbSNP:rs17097468EnsemblClinVar.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 dbSNP:rs1801963Ensembl.1
Natural variantiVAR_072254542C → Y in DFNA9. 1 PublicationCorresponds to variant dbSNP:rs121908932EnsemblClinVar.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

EnsembliENST00000396618; ENSP00000379862; ENSG00000100473 [O43405-1]
ENST00000475087; ENSP00000451528; ENSG00000100473 [O43405-2]
ENST00000643575; ENSP00000494838; ENSG00000100473 [O43405-1]
ENST00000644874; ENSP00000496360; ENSG00000100473 [O43405-1]
GeneIDi1690
KEGGihsa:1690
UCSCiuc001wqp.3 human [O43405-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiCOCH_HUMAN
AccessioniPrimary (citable) accession number: O43405
Secondary accession number(s): A8K9K9, D3DS84, Q96IU6
Entry historyiIntegrated into UniProtKB/Swiss-Prot: May 30, 2000
Last sequence update: June 1, 1998
Last modified: July 18, 2018
This is version 182 of the entry and version 1 of the sequence. See 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

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