| Gene Information | |
|---|---|
| Gene Name | XLRS1 |
| Organism | Homo sapiens (Human) |
| Gene Length | 224 |
| Protein Names | Retinoschisin (X-linked juvenile retinoschisis protein) |
| Target Name | NA |
| Target Type | NA |
| Gene Age | NA |
| Evolutionary Stage | NA |
| AlphaFoldDB | O15537 |
| Gene Card | RS1 |
| Uniprot ID | O15537 |
| Pfam | PF00754 |
| In ASD | no |
| Allosteric Prediction | NA |
| Ortholog in Animals | NA |
| Ohnologs | NA |
| Paralogs | NA |
| Tissue | NA |
| Tissue Specificity | 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). {ECO:0000269|PubMed:10915776, ECO:0000269|PubMed:9326935}. |
| Pharmacological Animal Models | NULL(Chimpanzee);NULL(Mouse);0.003847(Rat);0.105882(Rabbit) |
| Gene Ontology (biological process) |
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| Gene Ontology (cellular component) |
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| Gene Ontology (molecular function) |
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| PDB | 3JD6 (EM 4.10A ) 5N6W (EM 4.20A ) |
| DBSNP | rs62645879 rs104894935 rs62645889 rs62645892 rs62645894 rs104894932 rs104894928 rs62645899 rs104894933 rs61750458 rs61752060 rs61752063 rs61752065 rs61752068 rs61752067 rs61752069 rs61752072 rs281865345 rs104894934 rs104894934 rs61752075 rs61752144 rs61752145 rs61752149 rs61752152 rs61752153 rs61752154 rs61752157 rs61752156 rs61752158 rs61752158 rs61752159 rs1800001 rs61753161 rs61753163 rs61753162 rs61753165 rs1800002 rs61753166 rs61753169 rs61753171 rs61753175 rs61753174 rs281865352 rs281865351 rs281865354 rs281865355 rs281865356 rs281865357 rs281865358 rs104894930 rs281865360 rs281865361 rs281865362 rs281865364 rs281865365 rs281865367 rs281865367 rs281865368 rs281865369 rs281865369 rs1800004 rs104894929 |
| Subcellular location [CC] | Secreted {ECO:0000269|PubMed:10915776, ECO:0000269|PubMed:19849666, ECO:0000269|PubMed:26812435}. Cell membrane {ECO:0000250|UniProtKB:Q9Z1L4}; Peripheral membrane protein {ECO:0000250|UniProtKB:Q9Z1L4}; Extracellular side {ECO:0000250|UniProtKB:Q9Z1L4}. Note=Binds to phosphatidylserine-containing lipid membranes and embeds itself partially into the lipid bilayer. Lipid-binding requires the presence of Ca(2+) ions. {ECO:0000250|UniProtKB:Q9Z1L4}. |
| Mouse PG classification | NA |
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