======= RS1 ======= == Gene Information == * **Official Symbol**: RS1 * **Official Name**: retinoschisin 1 * **Aliases and Previous Symbols**: N/A * **Entrez ID**: [[https://www.ncbi.nlm.nih.gov/gene/?term=6247|6247]] * **UniProt**: [[https://www.uniprot.org/uniprot/O15537|O15537]] * **Interactions**: [[https://thebiogrid.org/search.php?search=RS1&organism=9606|BioGRID]] * **PubMed articles**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20RS1|Open PubMed]] * **OMIM**: [[https://omim.org/entry/300839|Open OMIM]] == Function Summary == * **Entrez 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]. * **UniProt Summary**: Binds negatively charged membrane lipids, such as phosphatidylserine and phosphoinositides (By similarity). May play a role in cell-cell adhesion processes in the retina, via homomeric interaction between octamers present on the surface of two neighboring cells (PubMed:27114531). Required for normal structure and function of the retina (PubMed:19093009). {ECO:0000250|UniProtKB:Q9Z1L4, ECO:0000269|PubMed:19093009, ECO:0000305|PubMed:27114531}. |F5 F8 type C| |adaptation of rhodopsin mediated signaling| |light adaption| |rhodopsin mediated signaling pathway| |response to light intensity| |phosphatidylinositol-5-phosphate binding| |phototransduction, visible light| |adaptation of signaling pathway| |retina layer formation| |phosphatidylinositol-3,5-bisphosphate binding| |extrinsic component of plasma membrane| |phosphatidylinositol-4-phosphate binding| |phosphatidylinositol-3,4-bisphosphate binding| |phosphatidylinositol-3,4,5-trisphosphate binding| |phosphatidylinositol-3-phosphate binding| |phototransduction| |detection of visible light| |retina morphogenesis in camera-type eye| |neural retina development| |phosphatidylserine binding| |detection of light stimulus| |phosphatidylinositol-4,5-bisphosphate binding| |camera-type eye morphogenesis| |cellular response to light stimulus| |detection of external stimulus| |detection of abiotic stimulus| |retina development in camera-type eye| |eye morphogenesis| |cellular response to radiation| |visual perception| |sensory perception of light stimulus| |sensory organ morphogenesis| |response to light stimulus| |camera-type eye development| |cellular response to environmental stimulus| |cellular response to abiotic stimulus| |protein homooligomerization| |eye development| |visual system development| |sensory system development| |response to radiation| |protein complex oligomerization| |sensory organ development| |detection of stimulus| |anatomical structure formation involved in morphogenesis| |cell adhesion| |biological adhesion| |animal organ morphogenesis| |sensory perception| |response to abiotic stimulus| |G protein-coupled receptor signaling pathway| |nervous system process| |protein-containing complex assembly| |extracellular space| |protein-containing complex subunit organization| |system process| \\ === CRISPR Data === No hits were found. ^Gene^Correlation^ |[[:human genes:h:hgc6.3|HGC6.3]]|0.521| Global Fraction of Cell Lines Where Essential: 0/694 ^Tissue^Fraction Of Cell Lines Where Essential^ |1290807.0|0/1| |909776.0|0/1| |bile duct|0/28| |blood|0/26| |bone|0/26| |breast|0/30| |central nervous system|0/49| |cervix|0/4| |colorectal|0/17| |esophagus|0/11| |fibroblast|0/1| |gastric|0/14| |kidney|0/18| |liver|0/19| |lung|0/72| |lymphocyte|0/16| |ovary|0/25| |pancreas|0/22| |peripheral nervous system|0/15| |plasma cell|0/12| |prostate|0/1| |skin|0/20| |soft tissue|0/9| |thyroid|0/2| |upper aerodigestive|0/22| |urinary tract|0/28| |uterus|0/5| == Essentiality in NALM6 == * **Essentiality Rank**: 18689 * **Expression level (log2 read counts)**: -1.86 {{:chemogenomics:nalm6 dist.png?nolink |}}