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- Table of Contents
Facts about Retinoschisin.
Required for normal structure and function of the retina (PubMed:19093009). .
Human | |
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Gene Name: | RS1 |
Uniprot: | O15537 |
Entrez: | 6247 |
Belongs to: |
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No superfamily |
retinoschisin 1; retinoschisis (X-linked, juvenile) 1; RS; XL; X-linked juvenile retinoschisis protein; XLRS1retinoschisin
Mass (kDA):
25.592 kDA
Human | |
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Location: | Xp22.13 |
Sequence: | X; NC_000023.11 (18639688..18672108, complement) |
Restricted to the retina (at protein level) (PubMed:10915776). Detected in the inner segment of the photoreceptors, the inner nuclear layer, the inner plexiform layer and the ganglion cell layer (at protein level). At the macula, expressed in both the outer and inner nuclear layers and in the inner plexiform layer (at protein level) (PubMed:10915776). Detected in retina (PubMed:9326935). Detected only within the photoreceptor cell layer, most prominently within the inner segments of the photoreceptors (PubMed:10915776). Undetectable in the inner plexiform layers and the inner nuclear layer (PubMed:10915776).
Secreted. Cell membrane; Peripheral membrane protein; Extracellular side. Binds to phosphatidylserine-containing lipid membranes and embeds itself partially into the lipid bilayer. Lipid-binding requires the presence of Ca(2+) ions.
PMID: 9326935 by Sauer C.G., et al. Positional cloning of the gene associated with X-linked juvenile retinoschisis.
PMID: 17286855 by Roni V., et al. Mapping of transcription start sites of human retina expressed genes.