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Cochlin

Summary

UniProt ID: O43405
Gene Symbol: COCH COCH5B2 UNQ257/PRO294
Gene ID: 1690
Organism: Homo sapiens (human)

External Links

GlycoProtDB: GPDB0011195
GlyGen: O43405
Re-Glyco: O43405

Annotation

Keyword: 3D-structure Alternative splicing Disease variant Disulfide bond Extracellular matrix Glycoprotein Hearing Non-syndromic deafness Proteomics identification Reference proteome Repeat Signal

Gene Ontology (GO)

Displaying **all 3** entries
GO Term	Evidence Code	Reference
sensory perception of sound	TAS	PMID
sensory perception of sound	IBA	GO_REF
regulation of cell shape	IMP	PMID

GO Hierarchy

biological process

multicellular organismal process [inference]

system process [inference]

nervous system process [inference]

sensory perception [inference]

sensory perception of mechanical stimulus [inference]

sensory perception of sound

biological regulation [inference]

regulation of biological process [inference]

regulation of developmental process [inference]

regulation of anatomical structure morphogenesis [inference]

regulation of cell morphogenesis [inference]

regulation of cell shape

regulation of biological quality [inference]

regulation of cell shape

Displaying **all 4** entries
GO Term	Evidence Code	Reference
extracellular region
extracellular matrix	IDA	PMID
extracellular matrix	IBA	GO_REF
extracellular matrix	IEA	GO_REF GO_REF

GO Hierarchy

cellular component

cellular anatomical structure [inference]

extracellular region

external encapsulating structure [inference]

extracellular matrix

Displaying 1 entry
GO Term	Evidence Code	Reference
collagen binding	IDA	PMID

GO Hierarchy

molecular function

binding [inference]

protein-containing complex binding [inference]

collagen binding

Gene Ontology information from UniProt.

Annotation information from UniProt.

Sequence

MSAAWIPALGLGVCLLLLPGPAGSEGAAPIAITCFTRGLDIRKEKADVLCPGGCPLEEFSVYGNIVYASVSSICGAAVHRGVISNSGGPVRVYSLPGRENYSSVDANGIQSQMLSRWSASFTVTKGKSSTQEATGQAVSTAHPPTGKRLKKTPEKKTGNKDCKADIAFLIDGSFNIGQRRFNLQKNFVGKVALMLGIGTEGPHVGLVQASEHPKIEFYLKNFTSAKDVLFAIKEVGFRGGNSNTGKALKHTAQKFFTVDAGVRKGIPKVVVVFIDGWPSDDIEEAGIVAREFGVNVFIVSVAKPIPEELGMVQDVTFVDKAVCRNNGFFSYHMPNWFGTTKYVKPLVQKLCTHEQMMCSKTCYNSVNIAFLIDGSSSVGDSNFRLMLEFVSNIAKTFEISDIGAKIAAVQFTYDQRTEFSFTDYSTKENVLAVIRNIRYMSGGTATGDAISFTVRNVFGPIRESPNKNFLVIVTDGQSYDDVQGPAAAAHDAGITIFSVGVAWAPLDDLKDMASKPKESHAFFTREFTGLEPIVSDVIRGICRDFLESQQ

N : N-glycosylation Site
___ : Potential Sequon

Glycosylation Sites

Displaying **all 8** entries
Position	Description	PubMed ID	GlyTouCan ID	Source
100	N-linked (GlcNAc...) asparagine	23090970 24190977 37074911	G14972EH G43223CG G87661QW G27126ED G41071NU G80920RR	GlycoProtDB UniProt GlyGen
124		23584533	G57321FI	GlyGen
128		23584533	G57321FI	GlyGen
139		23584533	G57321FI	GlyGen
140		23584533	G57321FI	GlyGen
145		23584533	G57321FI	GlyGen
221	N-linked (GlcNAc...) asparagine	24190977	G59626AS	UniProt GlyGen
257		23584533	G57321FI	GlyGen

Feature

: Glycosylation Site from GlyGen
: Glycosylation Site from UniProt

Disease

Displaying **all 2** entries
DO ID	Disease Name	Source
DOID:0111644	autosomal recessive nonsyndromic deafness 110	Alliance of Genome Resources
DOID:0110593	autosomal dominant nonsyndromic deafness 9	Alliance of Genome Resources

GlyTouCan

GlyComb

GlycoPOST

UniCarb-DR

LM-GlycoRepo

All Resources

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External Links

Annotation

International Collaboration

Acknowledgements