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RS1 retinoschisin 1 [Homo sapiens (human)]


Clone ID RefSeq Accession Definition Vector Stock Status *Turnaround time Price Order
OHu18101 NM_000330 Homo sapiens retinoschisin 1 (RS1), mRNA. pcDNA3.1+-DYK In-stock 5-7 $99.00
OHu18101C NM_000330 Homo sapiens retinoschisin 1 (RS1), mRNA. Customized vector In-stock 5-7 $149.00

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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?

Interactant

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