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Protein

Cochlin

Gene

COCH

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

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

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

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

  • collagen binding Source: UniProtKB

GO - Biological processi

  • defense response to bacterium Source: InterPro
  • growth plate cartilage chondrocyte morphogenesis Source: GO_Central
  • positive regulation of innate immune response Source: InterPro
  • regulation of cell shape Source: UniProtKB
  • sensory perception of sound Source: ProtInc

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Biological processHearing

Protein family/group databases

Transport Classification Database

More...
TCDBi
8.A.54.1.3 the integrin (integrin) family

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Cochlin
Alternative name(s):
COCH-5B2
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:COCH
Synonyms:COCH5B2
ORF Names:UNQ257/PRO294
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 14

Organism-specific databases

Eukaryotic Pathogen Database Resources

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EuPathDBi
HostDB:ENSG00000100473.15

Human Gene Nomenclature Database

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HGNCi
HGNC:2180 COCH

Online Mendelian Inheritance in Man (OMIM)

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MIMi
603196 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_O43405

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>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

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>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
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>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

DisGeNET

More...
DisGeNETi
1690

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

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GeneReviewsi
COCH

MalaCards human disease database

More...
MalaCardsi
COCH
MIMi601369 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000100473

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA26693

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
COCH

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section denotes the presence of an N-terminal signal peptide.<p><a href='/help/signal' target='_top'>More...</a></p>Signal peptidei1 – 24Sequence analysisAdd BLAST24
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_000002096825 – 550CochlinAdd BLAST526

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the PTM / Processing":/help/ptm_processing_section section describes the positions of cysteine residues participating in disulfide bonds.<p><a href='/help/disulfid' target='_top'>More...</a></p>Disulfide bondi34 ↔ 50
Disulfide bondi54 ↔ 74
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi100N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi221N-linked (GlcNAc...) asparagineSequence analysis1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>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

Encyclopedia of Proteome Dynamics

More...
EPDi
O43405

MaxQB - The MaxQuant DataBase

More...
MaxQBi
O43405

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
O43405

PeptideAtlas

More...
PeptideAtlasi
O43405

PRoteomics IDEntifications database

More...
PRIDEi
O43405

ProteomicsDB human proteome resource

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ProteomicsDBi
48929

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
O43405

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
O43405

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

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

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000100473 Expressed in 220 organ(s), highest expression level in caudate nucleus

CleanEx database of gene expression profiles

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CleanExi
HS_COCH

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
O43405 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
O43405 HS

Organism-specific databases

Human Protein Atlas

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HPAi
HPA065086

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>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

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
108051, 17 interactors

Protein interaction database and analysis system

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IntActi
O43405, 4 interactors

Molecular INTeraction database

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MINTi
O43405

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000216361

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

1550
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

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ProteinModelPortali
O43405

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...
SMRi
O43405

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

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EvolutionaryTracei
O43405

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini28 – 121LCCLPROSITE-ProRule annotationAdd BLAST94
Domaini165 – 346VWFA 1PROSITE-ProRule annotationAdd BLAST182
Domaini367 – 537VWFA 2PROSITE-ProRule annotationAdd BLAST171

Keywords - Domaini

Repeat, Signal

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
ENOG410IR8D Eukaryota
ENOG410XRIU LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00940000159386

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000013195

The HOVERGEN Database of Homologous Vertebrate Genes

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HOVERGENi
HBG005372

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
O43405

Identification of Orthologs from Complete Genome Data

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OMAi
AQKFFTA

Database of Orthologous Groups

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OrthoDBi
EOG091G002N

Database for complete collections of gene phylogenies

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PhylomeDBi
O43405

TreeFam database of animal gene trees

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TreeFami
TF318242

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
2.170.130.20, 1 hit
3.40.50.410, 2 hits

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR030743 Cochlin
IPR004043 LCCL
IPR036609 LCCL_sf
IPR002035 VWF_A
IPR036465 vWFA_dom_sf

The PANTHER Classification System

More...
PANTHERi
PTHR44729 PTHR44729, 1 hit

Pfam protein domain database

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Pfami
View protein in Pfam
PF03815 LCCL, 1 hit
PF00092 VWA, 2 hits

Simple Modular Architecture Research Tool; a protein domain database

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SMARTi
View protein in SMART
SM00603 LCCL, 1 hit
SM00327 VWA, 2 hits

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF53300 SSF53300, 2 hits
SSF69848 SSF69848, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS50820 LCCL, 1 hit
PS50234 VWFA, 2 hits

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 8 potential isoforms that are computationally mapped.Show allAlign All

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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> 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

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 8 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
G3V5X3G3V5X3_HUMAN
Cochlin
COCH
202Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
G3V5G6G3V5G6_HUMAN
Cochlin
COCH
80Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
G3V5V4G3V5V4_HUMAN
Cochlin
COCH
193Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A2U3TZE7A0A2U3TZE7_HUMAN
Cochlin
COCH
615Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A2R8Y3T0A0A2R8Y3T0_HUMAN
Cochlin
COCH
513Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
G3V4C4G3V4C4_HUMAN
Cochlin
COCH
438Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H0YJJ0H0YJJ0_HUMAN
Cochlin
COCH
55Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H0YJW4H0YJW4_HUMAN
Cochlin
COCH
434Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

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
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting. The information stored in this subsection is used to automatically construct alternative protein sequence(s) for display.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_056538493 – 550GITIF…LESQQ → AK in isoform 2. 1 PublicationAdd BLAST58

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

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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

The Consensus CDS (CCDS) project

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CCDSi
CCDS9640.1 [O43405-1]

NCBI Reference Sequences

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RefSeqi
NP_001128530.1, NM_001135058.1 [O43405-1]
NP_004077.1, NM_004086.2 [O43405-1]

UniGene gene-oriented nucleotide sequence clusters

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UniGenei
Hs.21016

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000396618; ENSP00000379862; ENSG00000100473 [O43405-1]
ENST00000475087; ENSP00000451528; ENSG00000100473 [O43405-2]
ENST00000643575; ENSP00000494838; ENSG00000100473 [O43405-1]
ENST00000644874; ENSP00000496360; ENSG00000100473 [O43405-1]

Database of genes from NCBI RefSeq genomes

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GeneIDi
1690

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:1690

UCSC genome browser

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UCSCi
uc001wqp.3 human [O43405-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross_references_section">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>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:

Protein Data Bank Europe

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PDBei

Protein Data Bank RCSB

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RCSB PDBi

Protein Data Bank Japan

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PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1JBINMR-A28-124[»]
ProteinModelPortaliO43405
SMRiO43405
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi108051, 17 interactors
IntActiO43405, 4 interactors
MINTiO43405
STRINGi9606.ENSP00000216361

Protein family/group databases

TCDBi8.A.54.1.3 the integrin (integrin) family

PTM databases

iPTMnetiO43405
PhosphoSitePlusiO43405

Polymorphism and mutation databases

BioMutaiCOCH

Proteomic databases

EPDiO43405
MaxQBiO43405
PaxDbiO43405
PeptideAtlasiO43405
PRIDEiO43405
ProteomicsDBi48929

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

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]

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
1690
DisGeNETi1690
EuPathDBiHostDB:ENSG00000100473.15

GeneCards: human genes, protein and diseases

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GeneCardsi
COCH
GeneReviewsiCOCH

H-Invitational Database, human transcriptome db

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H-InvDBi
HIX0023242
HGNCiHGNC:2180 COCH
HPAiHPA065086
MalaCardsiCOCH
MIMi601369 phenotype
603196 gene
neXtProtiNX_O43405
OpenTargetsiENSG00000100473
Orphaneti90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA
PharmGKBiPA26693

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiENOG410IR8D Eukaryota
ENOG410XRIU LUCA
GeneTreeiENSGT00940000159386
HOGENOMiHOG000013195
HOVERGENiHBG005372
InParanoidiO43405
OMAiAQKFFTA
OrthoDBiEOG091G002N
PhylomeDBiO43405
TreeFamiTF318242

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

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ChiTaRSi
COCH human
EvolutionaryTraceiO43405

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
COCH

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

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GenomeRNAii
1690

Protein Ontology

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PROi
PR:O43405

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000100473 Expressed in 220 organ(s), highest expression level in caudate nucleus
CleanExiHS_COCH
ExpressionAtlasiO43405 baseline and differential
GenevisibleiO43405 HS

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

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiCOCH_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: O43405
Secondary accession number(s): A8K9K9, D3DS84, Q96IU6
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: May 30, 2000
Last sequence update: June 1, 1998
Last modified: December 5, 2018
This is version 185 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  2. Human chromosome 14
    Human chromosome 14: entries, gene names and cross-references to MIM
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  6. Protein Spotlight
    Protein Spotlight articles and cited UniProtKB/Swiss-Prot entries
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