InnateDB Protein
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IDBP-48754.5
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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RS1
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Protein Name
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retinoschisin 1
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Synonyms
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RS; XLRS1;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000369320
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InnateDB Gene
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IDBG-48752 (RS1)
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Protein Structure
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Function |
May be active in cell adhesion processes during retinal development.
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Subcellular Localization |
Secreted {ECO:0000269PubMed:10915776}.
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Disease Associations |
Retinoschisis juvenile X-linked 1 (XLRS1) [MIM:312700]: A vitreo-retinal dystrophy characterized by macular pathology and by splitting of the superficial layer of the retina. Macular changes are present in almost all cases. In the fundi, radially oriented intraretinal foveomacular cysts are seen in a spoke-wheel configuration, with the absence of foveal reflex in most cases. In addition, approximately half of cases have bilateral peripheral retinoschisis in the inferotemporal part of the retina. Aside from the typical fundus appearance, strabismus, nystagmus, axial hyperopia, defective color vision and foveal ectopy can be present. The most important complications are vitreous hemorrhage, retinal detachment, and neovascular glaucoma. {ECO:0000269PubMed:10079181, ECO:0000269PubMed:10220153, ECO:0000269PubMed:10234514, ECO:0000269PubMed:10450864, ECO:0000269PubMed:10533068, ECO:0000269PubMed:17304551, ECO:0000269PubMed:17615541, ECO:0000269PubMed:19093009, ECO:0000269PubMed:9326935, ECO:0000269PubMed:9760195, ECO:0000269Ref.10}. Note=The disease is caused by mutations affecting the gene represented in this entry.
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Tissue Specificity |
Restricted to the retina (at protein level). At the mRNA level, detected only within the photoreceptor cell layer, most prominently within the inner segments of the photoreceptors. Undetectable in the inner plexiform layers and the inner nuclear layer. At the protein level, found in the inner segment of the photoreceptors, the inner nuclear layer, the inner plexiform layer and the ganglion cell layer. At the macula, expressed in both the outer and inner nuclear layers and in the inner plexiform layer (at protein level). {ECO:0000269PubMed:10915776}.
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 4 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
4
[view]
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Protein-Protein |
4
[view]
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Protein-DNA |
0
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Molecular Function |
Accession |
GO Term |
GO:0001786
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phosphatidylserine binding
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GO:0005546
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phosphatidylinositol-4,5-bisphosphate binding
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GO:0005547
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phosphatidylinositol-3,4,5-trisphosphate binding
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GO:0010314
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phosphatidylinositol-5-phosphate binding
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GO:0032266
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phosphatidylinositol-3-phosphate binding
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GO:0043325
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phosphatidylinositol-3,4-bisphosphate binding
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GO:0070273
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phosphatidylinositol-4-phosphate binding
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GO:0080025
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phosphatidylinositol-3,5-bisphosphate binding
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR000421
Coagulation factor 5/8 C-terminal type domain
IPR008979
Galactose-binding domain-like
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PFAM |
PF00754
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PRINTS |
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PIRSF |
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SMART |
SM00231
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TIGRFAMs |
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Modification |
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SwissProt |
O15537
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PhosphoSite |
PhosphoSite-O15537
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TrEMBL |
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UniProt Splice Variant |
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Entrez Gene |
6247
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UniGene |
Hs.715725
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RefSeq |
NP_000321
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HUGO |
HGNC:10457
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OMIM |
300839
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CCDS |
CCDS14187
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HPRD |
02426
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IMGT |
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EMBL |
AF014459
AF018958
AF018959
AF018960
AF018961
AF018962
AF018963
DQ426892
Z92542
Z94056
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GenPept |
AAC17928
AAC18405
ABD90543
CAI42483
CAI42776
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