- Catalog number
- A31971-1-Cy3
- Size / count
- 100 µg/Vial
- Dry ice
- No
- Hazardous
- No
- Discontinued
- No
- Background
- This gene encodes a glycoprotein that is localized in the endoplasmic reticulum. It plays an important role in cell protection against oxidative stress, and in the regulation of redox-related calcium homeostasis. Mutations in this gene are associated with early onset muscle disorders, referred to as SEPN1-related myopathy. SEPN1-related myopathy consists of 4 autosomal recessive disorders, originally thought to be separate entities: rigid spine muscular dystrophy (RSMD1), the classical form of multiminicore disease, desmin related myopathy with Mallory-body like inclusions, and congenital fiber-type disproportion (CFTD). This protein is a selenoprotein, containing the rare amino acid selenocysteine (Sec). Sec is encoded by the UGA codon, which normally signals translation termination. The 3' UTRs of selenoprotein mRNAs contain a conserved stem-loop structure, designated the Sec insertion sequence (SECIS) element, that is necessary for the recognition of UGA as a Sec codon, rather than as a stop signal. A second stop-codon redefinition element (SRE) adjacent to the UGA codon has been identified in this gene (PMID:15791204). SRE is a phylogenetically conserved stem-loop structure that stimulates readthrough at the UGA codon, and augments the Sec insertion efficiency by SECIS. Alternatively spliced transcript variants have been found for this gene.
- Synonyms
- Protein Bop; BH3-only protein; Retrotransposon Gag-like protein 10; RTL10; BOP, C22orf29
- Gene Name
- retrotransposon Gag like 10
- Gene ID
- 57190
- UniProt
- Q9NZV5
- Host
- Rabbit
- Reactivity
- Human
- Cross Reactivity
- No cross-reactivity with other proteins.
- Immunogen
- E.coli-derived human SELENON recombinant protein (Position: H260-P590).
- Clonality
- Polyclonal
- Tissue Specificity
- Ubiquitously expressed.
- Applications
- WB,Flow Cytometry,ELISA
- Purification
- Immunogen affinity purified.
- Concentration
- Adding 0.2 ml of distilled water will yield a concentration of 500 μg/ml.
- Form
- Lyophilized
- Reconstitution
- Adding 0.2 ml of distilled water will yield a concentration of 500 μg/ml.
- Function
- Could induce apoptosis in a BH3 domain-dependent manner. The interaction network of Bcl-2 family members may play a key role in modulation RTL10/BOP intrinsic apoptotic signaling activity.
- Components
- Each vial contains 4 mg Trehalose, 0.9 mg NaCl, 0.2 mg Na2HPO4.
- References & Citations
- 1. Bouman, K., Gubbels, M., van den Heuvel, F. M. A., Groothuis, J. T., Erasmus, C. E., Nijveldt, R., Udink Ten Cate, F. E. A., Voermans, N. C. Cardiac involvement in two rare neuromuscular diseases: LAMA2-related muscular dystrophy and SELENON-related myopathy. Neuromusc. Disord. 32: 635-642, 2022.
2. Castets, P., Bertrand, A. T., Beuvin, M., Ferry, A., Le Grand, F., Castets, M., Chazot, G., Rederstorff, M., Krol, A., Lescure, A., Romero, N. B., Guicheney, P., Allamand, V. Satellite cell loss and impaired muscle regeneration in selenoprotein N deficiency. Hum. Molec. Genet. 20: 694-704, 2011.
3. Clarke, N. F., Kidson, W., Quijano-Roy, S., Estournet, B., Ferreiro, A., Guicheney, P., Manson, J. I., Kornberg, A. J., Shield, L. K., North, K. N. SEPN1: associated with congenital fiber-type disproportion and insulin resistance. Ann. Neurol. 59: 546-552, 2006.
- Storage Conditions
- At -20℃ for one year from date of receipt.
After reconstitution, at 4℃ for one month. It can also be aliquotted and stored frozen at -20℃ for six months.
Avoid repeated freezing and thawing.
- Calculated Molecular Weight
- 14377 MW
- Observed Molecular Weight
- 66-70 kDa
- Fragment
- Rabbit IgG
- Applications Notes
- Western blot, 0.25-0.5 μg/ml, Human<br>
Flow Cytometry (Fixed), 1-3 μg/1x10<sup>6</sup> cells, Human<br>
ELISA, 0.1-0.5 μg/ml, -<br>
- Subcellular Location
- Cell membrane; Lipid-anchor, GPI-anchor.
- Protein Name
- Lymphocyte antigen 6A-2/6E-1