Homo sapiens Gene: RS1
Summary
InnateDB Gene IDBG-48752.5
Last Modified 2012-02-14 [Report errors or provide feedback]
Gene Symbol RS1
Gene Name retinoschisin 1
Synonyms RS; XLRS1;
Species Homo sapiens
Ensembl Gene ENSG00000102104
Encoded Proteins
retinoschisin 1
Protein Structure
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:18658030-18690229
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 to plasma membrane
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
Non-SSD Ortholog
Possible paralog/unusual divergence/ gene prediction error
Not yet available
Non-SSD Ortholog
Possible paralog/unusual divergence/ gene prediction error
Cross-References
SwissProt O15537
TrEMBL Q0QD39
UniProt Splice Variant
Entrez Gene 6247
UniGene Hs.715725
RefSeq NM_000330
HUGO 10457
OMIM 300839
CCDS CCDS14187
HPRD 02426
IMGT
EMBL AF014459 AF018958 AF018959 AF018960 AF018961 AF018962 AF018963 DQ426892 Z92542 Z94056
GenPept AAC17928 AAC18405 ABD90543 CAI42483 CAI42776
ImmGen RS1 (murine)
RNA Seq Atlas 6247