Rabbit anti-Human SEPN1 Polyclonal Antibody | anti-SELENON antibody

SEPN1 Antibody

Cat. Num. AAA9629502

• Gene Names: SEPN1; RSS; CFTD; SELN; MDRS1; RSMD1
• Reactivity: Human
• Applications: ELISA
• Purity: The antiserum was purified by peptide affinity chromatography using SulfoLink Coupling Resin (Thermo Fisher Scientific).
• Synonyms: SEPN1; Polyclonal Antibody; SEPN1 Antibody; CFTD; MDRS1; RSMD1; RSS; Selenoprotein N; 1; SelN; SELN_HUMAN; sepn1; anti-SELENON antibody

• Host: Rabbit
• Reactivity: Human
• Clonality: Polyclonal
• Isotype: Rabbit IgG
• Specificity: SEPN1 Antibody detects endogenous levels of total SEPN1.
• Purity/Purification: The antiserum was purified by peptide affinity chromatography using SulfoLink Coupling Resin (Thermo Fisher Scientific).
• Form/Format: Liquid. Rabbit IgG in phosphate buffered saline, pH7.4, 150mM NaCl, 0.02% sodium azide and 50% glycerol.
• Concentration: 1mg/ml (varies by lot)

• Applicable Applications for anti-SELENON antibody: ELISA (EIA)(peptide)
• Application Notes: ELISA(peptide): 1:20000-1:40000
• Immunogen: A synthesized peptide derived from Human MYOCD.
• Conjugation: Unconjugated
• Similarity: The N-terminus (first 61 amino acids) contains an endoplasmic reticulum addressing and retention targeting signal.
• Post Translational Modifications: N-glycosylated.
• Subunit Structure: Interacts with RYR1, RYR2 and RYR3.
• Tissue Specificity: Isoform 1 and isoform 2 are expressed in skeletal muscle, brain, lung and placenta. Isoform 2 is also expressed in heart, diaphragm and stomach.
• Function: Plays an important role in cell protection against oxidative stress and in the regulation of redox-related calcium homeostasis. Regulates the calcium level of the ER by protecting the calcium pump ATP2A2 against the oxidoreductase ERO1A-mediated oxidative damage. Within the ER, ERO1A activity increases the concentration of H(2)O(2), which attacks the luminal thiols in ATP2A2 and thus leads to cysteinyl sulfenic acid formation (-SOH) and SEPN1 reduces the SOH back to free thiol (-SH), thus restoring ATP2A2 activity. Acts as a modulator of ryanodine receptor (RyR) activity: protects RyR from oxidation due to increased oxidative stress, or directly controls the RyR redox state, regulating the RyR-mediated calcium mobilization required for normal muscle development and differentiation.Essential for muscle regeneration and satellite cell maintenance in skeletal muscle.
• Preparation and Storage: Store at -20 degree C. Stable for 12 months from date of receipt.

Product Categories/Family for anti-SELENON antibody

Endoplasmic reticulum membrane; Primary

NCBI and Uniprot Product Information

• NCBI GI #: 47578101
• NCBI GeneID: 57190
• NCBI Accession #: NP_996809.1
• NCBI GenBank Nucleotide #: NM_206926.1
• UniProt Accession #: Q9NZV5; Q6PI70; Q969F6; Q9NUI6; A6NJG8; A8MQ64
• Molecular Weight: 65,813 Da
• NCBI Official Full Name: selenoprotein N isoform 2
• NCBI Official Synonym Full Names: selenoprotein N, 1
• NCBI Official Symbol: SEPN1
• NCBI Official Synonym Symbols: RSS; CFTD; SELN; MDRS1; RSMD1
• NCBI Protein Information: selenoprotein N
• UniProt Protein Name: Selenoprotein N
• UniProt Gene Name: SEPN1
• UniProt Synonym Gene Names: SELN; SelN
• UniProt Entry Name: SELN_HUMAN

NCBI Description

This gene encodes a selenoprotein, which contains a selenocysteine (Sec) residue at its active site. The selenocysteine is encoded by the UGA codon that normally signals translation termination. The 3' UTR of selenoprotein genes have a common stem-loop structure, the sec insertion sequence (SECIS), that is necessary for the recognition of UGA as a Sec codon rather than as a stop signal. Mutations in this gene cause the classical phenotype of multiminicore disease and congenital muscular dystrophy with spinal rigidity and restrictive respiratory syndrome. Two alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

Uniprot Description

Subcellular location: Isoform 2: Endoplasmic reticulum membrane

Probable. Note: Probably membrane-associated. Ref.5

Tissue specificity: Isoform 1 and isoform 2 are expressed in skeletal muscle, brain, lung and placenta. Isoform 2 is also expressed in heart, diaphragm and stomach. Ref.1 Ref.5

Domain: The N-terminus (first 61 amino acids) contains an endoplasmic reticulum addressing and retention targeting signal.

Post-translational modification: N-glycosylated (isoform 2).

Involvement in disease: Rigid spine muscular dystrophy 1 (RSMD1) [MIM:602771]: A neuromuscular disorder characterized by poor axial muscle strength, scoliosis and neck weakness, and a variable degree of spinal rigidity. Early ventilatory insufficiency can lead to death by respiratory failure.Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.1 Ref.6 Ref.7 Ref.8

Sequence similarities: Contains 1 EF-hand domain.

Sequence caution: The sequence AAH15638.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.The sequence AAH42154.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.