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protein KIAA1199 (KIAA1199)
Function:
- role in hearing
Structure:
- contains 4 PbH1 repeats
Alternative splicing: named isoforms=2
Expression:
- weakly expressed
- in ear, specifically expressed in inner ear
- expressed in cochlea & vestibule
Pathology:
- defects in KIAA1199 may be a cause of nonsyndromic sensorineural hearing loss
General
glycoprotein
Properties
SIZE: MW = 153 kD
entity length = 1361 aa
MOTIF: signal sequence {1-30}
N-glycosylation site {N119}
N-glycosylation site {N165}
N-glycosylation site {N312}
N-glycosylation site {N370}
N-glycosylation site {N420}
PbH1 {572-594}
PbH1 {595-617}
PbH1 {719-741}
PbH1 {798-819}
N-glycosylation site {N889}
N-glycosylation site {N921}
Database Correlations
OMIM 608366
UniProt Q8WUJ3
References
UniProt :accession Q8WUJ3