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RS1 retinoschisin 1 [Homo sapiens (human)]


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_000330 Homo sapiens retinoschisin 1 (RS1), mRNA. GenEZ ORF Cloning In-stock $308.00 $259.00 10

*Business Day

Related Services

Gene Symbol RS1
Entrez Gene ID 6247
Full Name retinoschisin 1
Synonyms RS, XLRS1
General protein information
Preferred Names
retinoschisin
Names
retinoschisin
X-linked juvenile retinoschisis protein
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

X

Xp22.13

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].
Disorder

MIM: 300839

mRNA Protein Product Sequence Price Select
NM_000330, 205277455 NP_000321, 10835083 retinoschisin precursor ORF Sequence $159.00
Homo sapiens (human)RS1NP_000321.1
Macaca mulatta (Rhesus monkey)RS1XP_002806207.1
Canis lupus familiaris (dog)RS1XP_548882.2
Mus musculus (house mouse)Rs1NP_035432.3
Rattus norvegicus (Norway rat)Rs1NP_001098113.1
Gallus gallus (chicken)RS1NP_001128447.1
Danio rerio (zebrafish)rs1aNP_001003438.1
Xenopus (Silurana) tropicalis (western clawed frog)rs1NP_001096319.1
Process
IDNameEvidence
GO:0007155cell adhesionIEA
GO:0007275multicellular organismal developmentTAS
GO:0007601visual perceptionIEA
GO:0010842retina layer formationIEA
GO:0016062adaptation of rhodopsin mediated signalingIEA
Component
IDNameEvidence
GO:0005615extracellular spaceTAS
GO:0019897extrinsic component of plasma membraneIEA
Function
IDNameEvidence
GO:0001786phosphatidylserine bindingIEA
GO:0005546phosphatidylinositol-4,5-bisphosphate bindingIEA
GO:0005547phosphatidylinositol-3,4,5-trisphosphate bindingIEA
GO:0010314phosphatidylinositol-5-phosphate bindingIEA
GO:0032266phosphatidylinositol-3-phosphate bindingIEA
GO:0043325phosphatidylinositol-3,4-bisphosphate bindingIEA
GO:0070273phosphatidylinositol-4-phosphate bindingIEA
GO:0080025phosphatidylinositol-3,5-bisphosphate bindingIEA
GeneCards RS1
UniProt O15537
Vega OTTHUMG00000021216
MIM 300839
Ensembl ENSG00000102104
HGNC 10457
HPRD 02426

GeneRIFs: Gene References Into Functions What's a GeneRIF?

What is the normal function of the RS1 gene?

The RS1 gene provides instructions for producing a protein called retinoschisin, which is found in the retina. The retina is a specialized light-sensitive tissue that lines the back of the eye. Studies suggest that retinoschisin plays a role in the development and maintenance of the retina and in specialized cells within the retina that detect light and color (photoreceptor cells). This protein's exact role in the maintenance of the retina is unknown. Retinoschisin probably is involved in the organization of cells in the retina by connecting cells together (cell adhesion).

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