Alternative Name(s):

X-linked juvenile retinoschisis protein

Species: (Organism)

Homo sapiens (Human)

Gene Names:

RS1

Tag info:

N-terminal 6xHis-tagged

Target Protein AA Sequence:

STEDEGEDPWYQKACKCDCQGGPNALWSAGATSLDCIPECPYHKPLGFESGEVTPDQITCSNPEQYVGWYSSWTANKARLNSQGFGCAWLSKFQDSSQWLQIDLKEIKVISGILTQGRCDIDEWMTKYSVQYRTDERLNWIYYKDQTGNNRVFYGNSDRTSTVQNLLRPPIISRFIRLIPLGWHVRIAIRMELLECVSKCA

Expression Region:

24-224aa

Subcellular Location:

Secreted, Cell membrane, Peripheral membrane protein, Extracellular side

Tissue Specificity:

Restricted to the retina (at protein level) (PubMed:10915776). Detected in the inner segment of the photoreceptors, the inner nuclear layer, the inner plexiform layer and the ganglion cell layer (at protein level). At the macula, expressed in both the outer and inner nuclear layers and in the inner plexiform layer (at protein level) (PubMed:10915776). Detected in retina (PubMed:9326935). Detected only within the photoreceptor cell layer, most prominently within the inner segments of the photoreceptors (PubMed:10915776). Undetectable in the inner plexiform layers and the inner nuclear layer (PubMed:10915776).

Protein Length:

Full Length of Mature Protein

Pathway:

Mol. Weight:

27 kDa

Purity:

Greater than 90% as determined by SDS-PAGE.

Form:

Liquid or Lyophilized powder

Buffer:

If the delivery form is liquid, the default storage buffer is Tris/PBS-based buffer, 5%-50% glycerol. If the delivery form is lyophilized powder, the buffer before lyophilization is Tris/PBS-based buffer, 6% Trehalose, pH 8.0.

Research Areas:

Cell Adhesion

Function:

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

Involvement in disease:

Retinoschisis juvenile X-linked 1 (XLRS1)

Relevance:

May be active in cell adhesion processes during retinal development.

Reconstitution:

We recommend that this vial be briefly centrifuged prior to opening to bring the contents to the bottom. Please reconstitute protein in deionized sterile water to a concentration of 0.1-1.0 mg/mL.We recommend to add 5-50% of glycerol (final concentration) and aliquot for long-term storage at -20℃/-80℃. Our default final concentration of glycerol is 50%. Customers could use it as reference.

Protein Families:

Reference:

Clinical and genetic findings in Hungarian patients with X-linked juvenile retinoschisis.Lesch B., Szabo V., Kanya M., Somfai G.M., Vamos R., Varsanyi B., Pamer Z., Knezy K., Salacz G., Janaky M., Ferencz M., Hargitai J., Papp A., Farkas A.Mol. Vis. 14:2321-2332(2008)