UniProtKB - O43405 (COCH_HUMAN)
Cochlin
COCH
Functioni
Plays a role in the control of cell shape and motility in the trabecular meshwork.
1 PublicationGO - Molecular functioni
- collagen binding Source: UniProtKB
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
Keywordsi
Biological process | Hearing |
Enzyme and pathway databases
PathwayCommonsi | O43405 |
SignaLinki | O43405 |
Protein family/group databases
TCDBi | 8.A.54.1.3, the integrin (integrin) family |
Names & Taxonomyi
Protein namesi | Recommended name: CochlinAlternative name(s): COCH-5B2 |
Gene namesi | Name:COCH Synonyms:COCH5B2 ORF Names:UNQ257/PRO294 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:2180, COCH |
MIMi | 603196, gene |
neXtProti | NX_O43405 |
VEuPathDBi | HostDB:ENSG00000100473 |
Subcellular locationi
Extracellular region or secreted
- extracellular matrix 2 Publications
Extracellular region or secreted
- extracellular region Source: UniProtKB-KW
Other locations
- collagen-containing extracellular matrix Source: UniProtKB
Keywords - Cellular componenti
Extracellular matrix, SecretedPathology & Biotechi
Involvement in diseasei
Deafness, autosomal dominant, 9 (DFNA9)13 Publications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_079876 | 38 | G → D in DFNA9. 1 Publication | 1 | |
Natural variantiVAR_008532 | 51 | P → 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_008533 | 66 | V → G in DFNA9; affects protein deposition to the extracellular matrix. 2 PublicationsCorresponds to variant dbSNP:rs121908927EnsemblClinVar. | 1 | |
Natural variantiVAR_072249 | 87 | G → V in DFNA9. 1 Publication | 1 | |
Natural variantiVAR_072250 | 87 | G → W in DFNA9. 1 Publication | 1 | |
Natural variantiVAR_008534 | 88 | G → E in DFNA9; affects protein deposition to the extracellular matrix. 2 PublicationsCorresponds to variant dbSNP:rs121908928EnsemblClinVar. | 1 | |
Natural variantiVAR_008535 | 109 | I → N in DFNA9; affects protein deposition to the extracellular matrix. 2 PublicationsCorresponds to variant dbSNP:rs121908930EnsemblClinVar. | 1 | |
Natural variantiVAR_072251 | 109 | I → T in DFNA9. 1 PublicationCorresponds to variant dbSNP:rs121908930EnsemblClinVar. | 1 | |
Natural variantiVAR_008536 | 117 | W → R in DFNA9; does not affect protein deposition to the extracellular matrix. 2 PublicationsCorresponds to variant dbSNP:rs121908929EnsemblClinVar. | 1 | |
Natural variantiVAR_017175 | 119 | A → T in DFNA9. 1 PublicationCorresponds to variant dbSNP:rs121908931EnsemblClinVar. | 1 | |
Natural variantiVAR_070034 | 162 | C → Y in DFNA9. 1 Publication | 1 | |
Natural variantiVAR_072252 | 512 | M → T in DFNA9. 1 PublicationCorresponds to variant dbSNP:rs121908934EnsemblClinVar. | 1 | |
Natural variantiVAR_072253 | 527 | F → 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 Publication | 1 | |
Natural variantiVAR_072254 | 542 | C → Y in DFNA9. 1 PublicationCorresponds to variant dbSNP:rs121908932EnsemblClinVar. | 1 |
Deafness, autosomal recessive, 110 (DFNB110)1 Publication
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_081173 | 98 – 550 | Missing in DFNB110. 1 PublicationAdd BLAST | 453 |
Keywords - Diseasei
Deafness, Disease variant, Non-syndromic deafnessOrganism-specific databases
DisGeNETi | 1690 |
GeneReviewsi | COCH |
MalaCardsi | COCH |
MIMi | 601369, phenotype 618094, phenotype |
OpenTargetsi | ENSG00000100473 |
Orphaneti | 90635, Autosomal dominant non-syndromic sensorineural deafness type DFNA |
PharmGKBi | PA26693 |
Miscellaneous databases
Pharosi | O43405, Tbio |
Genetic variation databases
BioMutai | COCH |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Signal peptidei | 1 – 24 | Sequence analysisAdd BLAST | 24 | |
ChainiPRO_0000020968 | 25 – 550 | CochlinAdd BLAST | 526 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Disulfide bondi | 34 ↔ 50 | |||
Disulfide bondi | 54 ↔ 74 | |||
Glycosylationi | 100 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 221 | N-linked (GlcNAc...) asparagineSequence analysis | 1 |
Post-translational modificationi
Keywords - PTMi
Disulfide bond, GlycoproteinProteomic databases
EPDi | O43405 |
jPOSTi | O43405 |
MassIVEi | O43405 |
MaxQBi | O43405 |
PaxDbi | O43405 |
PeptideAtlasi | O43405 |
PRIDEi | O43405 |
ProteomicsDBi | 48929 [O43405-1] 76856 |
PTM databases
GlyGeni | O43405, 2 sites, 1 N-linked glycan (1 site) |
iPTMneti | O43405 |
PhosphoSitePlusi | O43405 |
Expressioni
Tissue specificityi
Gene expression databases
Bgeei | ENSG00000100473, Expressed in pancreas and 233 other tissues |
ExpressionAtlasi | O43405, baseline and differential |
Genevisiblei | O43405, HS |
Organism-specific databases
HPAi | ENSG00000100473, Tissue enriched (pancreas) |
Interactioni
Subunit structurei
Binary interactionsi
Isoform 2 [O43405-2]
With | #Exp. | IntAct |
---|---|---|
WFS1 [O76024] | 3 | EBI-25896722,EBI-720609 |
Protein-protein interaction databases
BioGRIDi | 108051, 36 interactors |
IntActi | O43405, 16 interactors |
MINTi | O43405 |
STRINGi | 9606.ENSP00000379862 |
Miscellaneous databases
RNActi | O43405, protein |
Structurei
Secondary structure
3D structure databases
SMRi | O43405 |
ModBasei | Search... |
PDBe-KBi | Search... |
Miscellaneous databases
EvolutionaryTracei | O43405 |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 28 – 121 | LCCLPROSITE-ProRule annotationAdd BLAST | 94 | |
Domaini | 165 – 346 | VWFA 1PROSITE-ProRule annotationAdd BLAST | 182 | |
Domaini | 367 – 537 | VWFA 2PROSITE-ProRule annotationAdd BLAST | 171 |
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 128 – 159 | DisorderedSequence analysisAdd BLAST | 32 |
Keywords - Domaini
Repeat, SignalPhylogenomic databases
eggNOGi | KOG1216, Eukaryota |
GeneTreei | ENSGT00940000159386 |
InParanoidi | O43405 |
OMAi | CPANCPL |
OrthoDBi | 200139at2759 |
PhylomeDBi | O43405 |
TreeFami | TF318242 |
Family and domain databases
Gene3Di | 2.170.130.20, 1 hit 3.40.50.410, 2 hits |
InterProi | View protein in InterPro IPR030743, Cochlin IPR004043, LCCL IPR036609, LCCL_sf IPR002035, VWF_A IPR036465, vWFA_dom_sf |
PANTHERi | PTHR24020:SF36, PTHR24020:SF36, 2 hits |
Pfami | View protein in Pfam PF03815, LCCL, 1 hit PF00092, VWA, 2 hits |
SMARTi | View protein in SMART SM00603, LCCL, 1 hit SM00327, VWA, 2 hits |
SUPFAMi | SSF53300, SSF53300, 2 hits SSF69848, SSF69848, 1 hit |
PROSITEi | View protein in PROSITE PS50820, LCCL, 1 hit PS50234, VWFA, 2 hits |
s (2+)i Sequence
Sequence statusi: Complete.
: The displayed sequence is further processed into a mature form. Sequence processingi
This entry describes 2 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 2 described isoforms and 8 potential isoforms that are computationally mapped.Show allAlign All
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
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
Computationally mapped potential isoform sequencesi
There are 8 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketG3V5V4 | G3V5V4_HUMAN | Cochlin | COCH | 193 | Annotation score: | ||
A0A2U3TZE7 | A0A2U3TZE7_HUMAN | Cochlin | COCH | 615 | Annotation score: | ||
A0A2R8Y3T0 | A0A2R8Y3T0_HUMAN | Cochlin | COCH | 513 | Annotation score: | ||
G3V4C4 | G3V4C4_HUMAN | Cochlin | COCH | 438 | Annotation score: | ||
G3V5X3 | G3V5X3_HUMAN | Cochlin | COCH | 202 | Annotation score: | ||
H0YJW4 | H0YJW4_HUMAN | Cochlin | COCH | 434 | Annotation score: | ||
G3V5G6 | G3V5G6_HUMAN | Cochlin | COCH | 80 | Annotation score: | ||
H0YJJ0 | H0YJJ0_HUMAN | Cochlin | COCH | 55 | Annotation score: |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_079876 | 38 | G → D in DFNA9. 1 Publication | 1 | |
Natural variantiVAR_008532 | 51 | P → 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_008533 | 66 | V → G in DFNA9; affects protein deposition to the extracellular matrix. 2 PublicationsCorresponds to variant dbSNP:rs121908927EnsemblClinVar. | 1 | |
Natural variantiVAR_072249 | 87 | G → V in DFNA9. 1 Publication | 1 | |
Natural variantiVAR_072250 | 87 | G → W in DFNA9. 1 Publication | 1 | |
Natural variantiVAR_008534 | 88 | G → E in DFNA9; affects protein deposition to the extracellular matrix. 2 PublicationsCorresponds to variant dbSNP:rs121908928EnsemblClinVar. | 1 | |
Natural variantiVAR_081173 | 98 – 550 | Missing in DFNB110. 1 PublicationAdd BLAST | 453 | |
Natural variantiVAR_008535 | 109 | I → N in DFNA9; affects protein deposition to the extracellular matrix. 2 PublicationsCorresponds to variant dbSNP:rs121908930EnsemblClinVar. | 1 | |
Natural variantiVAR_072251 | 109 | I → T in DFNA9. 1 PublicationCorresponds to variant dbSNP:rs121908930EnsemblClinVar. | 1 | |
Natural variantiVAR_008536 | 117 | W → R in DFNA9; does not affect protein deposition to the extracellular matrix. 2 PublicationsCorresponds to variant dbSNP:rs121908929EnsemblClinVar. | 1 | |
Natural variantiVAR_017175 | 119 | A → T in DFNA9. 1 PublicationCorresponds to variant dbSNP:rs121908931EnsemblClinVar. | 1 | |
Natural variantiVAR_022259 | 135 | G → R1 PublicationCorresponds to variant dbSNP:rs28400035Ensembl. | 1 | |
Natural variantiVAR_070034 | 162 | C → Y in DFNA9. 1 Publication | 1 | |
Natural variantiVAR_022260 | 281 | D → N1 PublicationCorresponds to variant dbSNP:rs28362775EnsemblClinVar. | 1 | |
Natural variantiVAR_011925 | 352 | T → S1 PublicationCorresponds to variant dbSNP:rs1045644EnsemblClinVar. | 1 | |
Natural variantiVAR_022261 | 402 | I → V1 PublicationCorresponds to variant dbSNP:rs28362778EnsemblClinVar. | 1 | |
Natural variantiVAR_072252 | 512 | M → T in DFNA9. 1 PublicationCorresponds to variant dbSNP:rs121908934EnsemblClinVar. | 1 | |
Natural variantiVAR_050896 | 518 | E → G. Corresponds to variant dbSNP:rs17097468EnsemblClinVar. | 1 | |
Natural variantiVAR_072253 | 527 | F → 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 Publication | 1 | |
Natural variantiVAR_011926 | 532 | P → S. Corresponds to variant dbSNP:rs1801963Ensembl. | 1 | |
Natural variantiVAR_072254 | 542 | C → Y in DFNA9. 1 PublicationCorresponds to variant dbSNP:rs121908932EnsemblClinVar. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_056538 | 493 – 550 | GITIF…LESQQ → AK in isoform 2. 1 PublicationAdd BLAST | 58 |
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 |
CCDSi | CCDS9640.1 [O43405-1] |
RefSeqi | NP_001128530.1, NM_001135058.1 [O43405-1] NP_004077.1, NM_004086.2 [O43405-1] |
Genome annotation databases
Ensembli | ENST00000396618; ENSP00000379862; ENSG00000100473 ENST00000475087; ENSP00000451528; ENSG00000100473 [O43405-2] ENST00000643575; ENSP00000494838; ENSG00000100473 ENST00000644874; ENSP00000496360; ENSG00000100473 |
GeneIDi | 1690 |
KEGGi | hsa:1690 |
MANE-Selecti | ENST00000396618.9; ENSP00000379862.3; NM_004086.3; NP_004077.1 |
UCSCi | uc001wqp.3, human [O43405-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
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 |
CCDSi | CCDS9640.1 [O43405-1] |
RefSeqi | NP_001128530.1, NM_001135058.1 [O43405-1] NP_004077.1, NM_004086.2 [O43405-1] |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
1JBI | NMR | - | A | 28-124 | [»] | |
SMRi | O43405 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 108051, 36 interactors |
IntActi | O43405, 16 interactors |
MINTi | O43405 |
STRINGi | 9606.ENSP00000379862 |
Protein family/group databases
TCDBi | 8.A.54.1.3, the integrin (integrin) family |
PTM databases
GlyGeni | O43405, 2 sites, 1 N-linked glycan (1 site) |
iPTMneti | O43405 |
PhosphoSitePlusi | O43405 |
Genetic variation databases
BioMutai | COCH |
Proteomic databases
EPDi | O43405 |
jPOSTi | O43405 |
MassIVEi | O43405 |
MaxQBi | O43405 |
PaxDbi | O43405 |
PeptideAtlasi | O43405 |
PRIDEi | O43405 |
ProteomicsDBi | 48929 [O43405-1] 76856 |
Protocols and materials databases
Antibodypediai | 22996, 216 antibodies from 27 providers |
DNASUi | 1690 |
Genome annotation databases
Ensembli | ENST00000396618; ENSP00000379862; ENSG00000100473 ENST00000475087; ENSP00000451528; ENSG00000100473 [O43405-2] ENST00000643575; ENSP00000494838; ENSG00000100473 ENST00000644874; ENSP00000496360; ENSG00000100473 |
GeneIDi | 1690 |
KEGGi | hsa:1690 |
MANE-Selecti | ENST00000396618.9; ENSP00000379862.3; NM_004086.3; NP_004077.1 |
UCSCi | uc001wqp.3, human [O43405-1] |
Organism-specific databases
CTDi | 1690 |
DisGeNETi | 1690 |
GeneCardsi | COCH |
GeneReviewsi | COCH |
HGNCi | HGNC:2180, COCH |
HPAi | ENSG00000100473, Tissue enriched (pancreas) |
MalaCardsi | COCH |
MIMi | 601369, phenotype 603196, gene 618094, phenotype |
neXtProti | NX_O43405 |
OpenTargetsi | ENSG00000100473 |
Orphaneti | 90635, Autosomal dominant non-syndromic sensorineural deafness type DFNA |
PharmGKBi | PA26693 |
VEuPathDBi | HostDB:ENSG00000100473 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG1216, Eukaryota |
GeneTreei | ENSGT00940000159386 |
InParanoidi | O43405 |
OMAi | CPANCPL |
OrthoDBi | 200139at2759 |
PhylomeDBi | O43405 |
TreeFami | TF318242 |
Enzyme and pathway databases
PathwayCommonsi | O43405 |
SignaLinki | O43405 |
Miscellaneous databases
BioGRID-ORCSi | 1690, 17 hits in 1042 CRISPR screens |
ChiTaRSi | COCH, human |
EvolutionaryTracei | O43405 |
GeneWikii | COCH |
GenomeRNAii | 1690 |
Pharosi | O43405, Tbio |
PROi | PR:O43405 |
RNActi | O43405, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000100473, Expressed in pancreas and 233 other tissues |
ExpressionAtlasi | O43405, baseline and differential |
Genevisiblei | O43405, HS |
Family and domain databases
Gene3Di | 2.170.130.20, 1 hit 3.40.50.410, 2 hits |
InterProi | View protein in InterPro IPR030743, Cochlin IPR004043, LCCL IPR036609, LCCL_sf IPR002035, VWF_A IPR036465, vWFA_dom_sf |
PANTHERi | PTHR24020:SF36, PTHR24020:SF36, 2 hits |
Pfami | View protein in Pfam PF03815, LCCL, 1 hit PF00092, VWA, 2 hits |
SMARTi | View protein in SMART SM00603, LCCL, 1 hit SM00327, VWA, 2 hits |
SUPFAMi | SSF53300, SSF53300, 2 hits SSF69848, SSF69848, 1 hit |
PROSITEi | View protein in PROSITE PS50820, LCCL, 1 hit PS50234, VWFA, 2 hits |
MobiDBi | Search... |
Entry informationi
Entry namei | COCH_HUMAN | |
Accessioni | O43405Primary (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: | February 23, 2022 | |
This is version 204 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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, Reference proteomeDocuments
- Human chromosome 14
Human chromosome 14: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PDB cross-references
Index of Protein Data Bank (PDB) cross-references - Protein Spotlight
Protein Spotlight articles and cited UniProtKB/Swiss-Prot entries