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retinoschisin; X-linked juvenile retinoschisis protein (RS1 XLRS1)
Function:
- may be active in cell adhesion processes during retinal development
Structure:
- homooctamer of 4 homodimers; disulfide-linked
- contains 1 F5/8 type C domain
Compartment: secreted
Expression: expressed specifically in retina
Pathology:
- mutations associated with X-linked juvenile retinoschisis 1
General
secreted protein
Properties
SIZE: entity length = 224 aa
MW = 26 kD
COMPARTMENT: extracellular compartment
MOTIF: signal sequence {1-23}
cysteine residue {C40}
MODIFICATION: cysteine residue {C-INTERCHAIN}
cysteine residue {C59}
MODIFICATION: cysteine residue {C223}
coagulation factors 5/8 type C domain (FA58C) {63-219}
MOTIF: cysteine residue {C63}
MODIFICATION: cysteine residue {C219}
cysteine residue {C110}
MODIFICATION: cysteine residue {C142}
cysteine residue {C142}
MODIFICATION: cysteine residue {C110}
cysteine residue {C219}
MODIFICATION: cysteine residue {C63}
cysteine residue {C223}
MODIFICATION: cysteine residue {C59}
Database Correlations
OMIM 312700
UniProt O15537
Pfam PF00754
Entrez Gene 6247
Kegg hsa:6247
References
- UniProt :accession O15537
- Mutations of the RS1 gene;
Retina International's scientific newsletter
http://www.retina-international.com/sci-news/xlrsmut.htm
- GeneReviews
http://www.ncbi.nlm.nih.gov/sites/genetests/lab/gene/RS1