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USH2A protein (usherin, Usher syndrome type-2A protein)
Function:
1) involved in hearing & vision
2) interacts with collagen IV & fibronectin
a) interaction via laminin EGF-like domains
3) integration into the basement membrane via collagen
4) interacts with USH1C, WHRN via PDZ-binding motif
5) 35 fibrinogen F3 modules
6) 10 EGF domains
7) 3 laminin-like domains
8) component of interstereocilia ankle links in the inner ear sensory cells
Structure:
- the PDZ-binding motif probably mediates the association with some of the PDZ domains of USH1C & WHRN (putative)
- contains 35 fibronectin F3 modules
- contains 10 laminin EGF-like domains
- contains 2 laminin G-like domains
- contains 1 laminin N-terminal domain
Compartment:
- cell projection, stereocilium membrane
- single-pass type 1 membrane protein
- probable component of the interstereocilia ankle links in the inner ear sensory cells
- isoform 2: secreted
Alternative splicing:
- named isoforms=3
Expression:
- present in the basement membrane of many, but not all tissues
- expressed in retina, cochlea, small intestine, large intestine, pancreas, bladder, prostate, esophagus, trachea, thymus, salivary glands, placenta, ovary, fallopian tube, uterus, testis
- absent in heart, lung, liver, kidney, brain
- in the retina, present in Bruch's membrane
Pathology:
1) defects in USH2A result in Usher syndrome 2a
2) defects in USH2A are a cause of autosomal recessive retinitis pigmentosa type-39
Related
retinitis pigmentosa (RP)
USH2A gene
Usher syndrome type IIA
General
adhesion receptor
Properties
SIZE: MW = 576 kD
entity length = 5202 aa
COMPARTMENT: plasma membrane
MOTIF: signal sequence {1-31}
LAMININ LIKE {271-517}
MOTIF: N-glycosylation site {N361}
N-glycosylation site {N451}
EGF domain {575-640} (10)
MOTIF: cysteine residue {C575}
MODIFICATION: cysteine residue {C584}
cysteine residue {C577}
MODIFICATION: cysteine residue {C605}
cysteine residue {C584}
MODIFICATION: cysteine residue {C575}
N-glycosylation site {N587}
cysteine residue {C605}
MODIFICATION: cysteine residue {C577}
cysteine residue {C608}
MODIFICATION: cysteine residue {C617}
N-glycosylation site {N611}
cysteine residue {C617}
MODIFICATION: cysteine residue {C608}
cysteine residue {C620}
MODIFICATION: cysteine residue {C638}
cysteine residue {C638}
MODIFICATION: cysteine residue {C620}
fibronectin type III domain or F3 module {1058-1143} (4)
MOTIF: N-glycosylation site {N1071}
N-glycosylation site {N1479}
LAMININ G-LIKE {1517-1709} (2)
MOTIF: N-glycosylation site {N1635}
cysteine residue {C1672}
MODIFICATION: cysteine residue {C1709}
cysteine residue {C1709}
MODIFICATION: cysteine residue {C1672}
fibronectin type III domain or F3 module {3404-3494} (31)
MOTIF: N-glycosylation site {N3419}
cysteine residue {C3425}
MODIFICATION: cysteine residue {C3399}
N-glycosylation site {N3433}
cysteine residue {C3444}
MODIFICATION: cysteine residue {C3371}
transmembrane domain {5043-5063}
PDZ recognition motif
NAME: PDZ recognition motif
SITE: 5200-5202
FOR-BINDING-VIA: PDZ domain
Database Correlations
OMIM correlations
MORBIDMAP 608400
UniProt O75445
PFAM correlations
Entrez Gene 7399
Kegg hsa:7399
References
- Eudy JD et al.
Mutation of a gene encoding a protein with extracellular matrix
motifs in Usher syndrome type IIa.
Science 280:1753-7, 1998
PMID: 9624053
- UniProt :accession Q9H6K4