Version 5.4
Homo sapiens Gene: RS1
Summary
InnateDB Gene IDBG-48752.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol RS1
Gene Name retinoschisin 1
Synonyms RS; XLRS1
Species Homo sapiens
Ensembl Gene ENSG00000102104
Encoded Proteins
IDBP-48754
retinoschisin 1
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene encodes an extracellular protein that plays a crucial role in the cellular organization of the retina. The encoded protein is assembled and secreted from photoreceptors and bipolar cells as a homo-oligomeric protein complex. Mutations in this gene are responsible for X-linked retinoschisis, a common, early-onset macular degeneration in males that results in a splitting of the inner layers of the retina and severe loss in vision. [provided by RefSeq, Oct 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome X:18639910-18672109
Strand Reverse strand
Band p22.13
Transcripts
ENST00000379984 ENSP00000369320
ENST00000476595
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
Cellular Component
GO:0005576 extracellular region
GO:0005615 extracellular space
GO:0019897 extrinsic component of plasma membrane
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000031293
View Gene Order
ENSBTAG00000031145
Not yet available
Cross-References
SwissProt O15537
TrEMBL
UniProt Splice Variant
Entrez Gene 6247
UniGene Hs.715725
RefSeq NM_000330
HUGO HGNC:10457
OMIM 300839
CCDS CCDS14187
HPRD
IMGT
EMBL AF014459 AF018958 AF018959 AF018960 AF018961 AF018962 AF018963 DQ426892 Z92542 Z94056
GenPept AAC17928 AAC18405 ABD90543 CAI42483 CAI42776
RNA Seq Atlas 6247

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca