InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: RS1

Summary

InnateDB Protein

IDBP-48754.5

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

RS1

Protein Name

retinoschisin 1

Synonyms

RS; XLRS1;

Species

Homo sapiens

Ensembl Protein

ENSP00000369320

InnateDB Gene

IDBG-48752 (RS1)

Protein Structure

UniProt Annotation

Function

May be active in cell adhesion processes during retinal development.

Subcellular Localization

Secreted {ECO:0000269PubMed:10915776}.

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.

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}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 4 experimentally validated interaction(s) in this database.

Experimentally validated
Total	4 [view]
Protein-Protein	4 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0001786	phosphatidylserine binding
GO:0005546	phosphatidylinositol-4,5-bisphosphate binding
GO:0005547	phosphatidylinositol-3,4,5-trisphosphate binding
GO:0010314	phosphatidylinositol-5-phosphate binding
GO:0032266	phosphatidylinositol-3-phosphate binding
GO:0043325	phosphatidylinositol-3,4-bisphosphate binding
GO:0070273	phosphatidylinositol-4-phosphate binding
GO:0080025	phosphatidylinositol-3,5-bisphosphate binding

Biological Process

GO:0007155	cell adhesion
GO:0007275	multicellular organismal development
GO:0007601	visual perception
GO:0010842	retina layer formation
GO:0016062	adaptation of rhodopsin mediated signaling