Anti-SEPN1 Antibody (CAB15012)
- SKU:
- CAB15012
- Product type:
- Antibody
- Reactivity:
- Human
- Reactivity:
- Mouse
- Host Species:
- Rabbit
- Isotype:
- IgG
- Antibody Type:
- Polyclonal Antibody
- Research Area:
- Cell Biology
Frequently bought together:
Description
抗体名: | Anti-SEPN1 Antibody |
抗体コード: | CAB15012 |
抗体サイズ: | 20uL, 50uL, 100uL |
申し込み: | WB |
反応性: | Human, Mouse |
宿主種: | Rabbit |
免疫原: | Recombinant fusion protein containing a sequence corresponding to amino acids 341-590 of human SEPN1 (NP_065184.2). |
申し込み: | WB |
推奨希釈: | WB 1:500 - 1:2000 |
反応性: | Human, Mouse |
ポジティブサンプル: | HepG2, Mouse lung |
免疫原: | Recombinant fusion protein containing a sequence corresponding to amino acids 341-590 of human SEPN1 (NP_065184.2). |
精製方法: | Affinity purification |
ストレージバッファ: | Store at -20'C. Avoid freeze / thaw cycles. Buffer: PBS with 0.02% sodium azide, 50% glycerol, pH7.3. |
アイソタイプ: | IgG |
順序: | VDME WLYG ASES SNME VDIG YIPQ MELE ATGP SVPS VILD EDGS MIDS HLPS GEPL QFVF EEIK WQQE LSWE EAAR RLEV AMYP FKKV SYLP FTEA FDRA KAEN KLVH SILL WGAL DDQS CUGS GRTL RETV LESS PILT LLNE SFIS TWSL VKEL EELQ NNQE NSSH QKLA GLHL EKYS FPVE MMIC LPNG TVVH HINA NYFL DITS VKPE EIES NLFS FSST FEDP STAT YMQF LKEG LRRG LPLL QP |
遺伝子ID: | 57190 |
Uniprot: | Q9NZV5 |
セルラーロケーション: | Endoplasmic reticulum membrane |
計算された分子量: | 62kDa/65kDa |
観察された分子量: | 66kDa |
同義語: | SELENON, CFTD, MDRS1, RSMD1, RSS, SELN, SEPN1 |
バックグラウンド: | 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. |
UniProt Protein Function: | SEPN1: Defects in SEPN1 are the cause of rigid spine muscular dystrophy 1 (RSMD1). 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. 2 isoforms of the human protein are produced by alternative splicing. |
UniProt Protein Details: | Chromosomal Location of Human Ortholog: 1p36.13 Cellular Component: endoplasmic reticulum membrane Molecular Function:protein binding Biological Process: calcium ion homeostasis; skeletal muscle fiber development Disease: Rigid Spine Muscular Dystrophy 1 |
NCBI Summary: | 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 Code: | Q9NZV5 |
NCBI GenInfo Identifier: | 317373588 |
NCBI Gene ID: | 57190 |
NCBI Accession: | Q9NZV5.5 |
UniProt Secondary Accession: | Q9NZV5,Q6PI70, Q969F6, Q9NUI6, A6NJG8, A8MQ64, |
UniProt Related Accession: | Q9NZV5 |
Molecular Weight: | 62,034 Da |
NCBI Full Name: | Selenoprotein N |
NCBI 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 |
Protein Family: | Selenoprotein |
UniProt Gene Name: | SEPN1 |
UniProt Entry Name: | SELN_HUMAN |
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