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
IDBP-48754 retinoschisin 1
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
Accession GO Term
Molecular Function
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
ENSMUSG00000031293 Ortholuge Non-SSD Ortholog Possible paralog/unusual divergence/ gene prediction error
ENSBTAG00000031145 Not yet available Ortholuge Non-SSD Ortholog Possible paralog/unusual divergence/ gene prediction error
Pathways
NETPATH
REACTOME
KEGG
INOH
PID BIOCARTA
PID NCI
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