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
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
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
UniProt Splice Variant
Entrez Gene 6247
UniGene Hs.715725
RefSeq NM_000330
HUGO HGNC: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
RNA Seq Atlas 6247