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cochlin; COCH-5B2 (COCH, COCH5B2, UNQ257/PRO294)
Function:
- 50 kD form is created by proteolytic cleavage
- interacts with SLC44A2
Structure:
- N-glycosylated
- contains 1 LCCL domain
- contains 2 VWFA domains
Compartment:
- secreted, extracellular space, extracellular matrix
Expression:
- expressed in inner ear structures; the cochlea & the vestibule
Pathology:
- defects in COCH are the cause of autosomal dominant sensorineural deafness type 9
Related
COCH gene mutation
General
glycoprotein
secreted protein
Properties
SIZE: entity length = 550 aa
MW = 59 kD
COMPARTMENT: extracellular compartment
MOTIF: signal sequence {1-24}
LCCL domain {28-121}
MOTIF: cysteine residue {C34}
MODIFICATION: cysteine residue {C50}
cysteine residue {C50}
MODIFICATION: cysteine residue {C34}
cysteine residue {C54}
MODIFICATION: cysteine residue {C74}
cysteine residue {C74}
MODIFICATION: cysteine residue {C54}
N-glycosylation site {N100}
VWFA domain {165-346}
MOTIF: N-glycosylation site {N221}
VWFA domain {367-537}
Database Correlations
OMIM correlations
MORBIDMAP 603196
UniProt O43405
PFAM correlations
Entrez Gene 1690
Kegg hsa:1690
References
- UniProt :accession O43405
- Protein Spotlight; the Japanese Horseshoe Crab & Deafness -
Issue 4 of November 2000
http://www.expasy.org/spotlight/back_issues/sptlt004.shtml
- Hereditary hearing loss homepage; Note: gene page
http://webhost.ua.ac.be/hhh/
- GeneReviews
http://www.ncbi.nlm.nih.gov/sites/genetests/lab/gene/COCH
- SeattleSNPs
http://pga.gs.washington.edu/data/coch/