Anti-NHLRC1 Antibody (CAB6669)
- SKU:
- CAB6669
- Product type:
- Antibody
- Reactivity:
- Human
- Reactivity:
- Mouse
- Reactivity:
- Rat
- Host Species:
- Rabbit
- Isotype:
- IgG
- Antibody Type:
- Polyclonal Antibody
- Research Area:
- Autophagy
Frequently bought together:
Description
| 抗体名: | Anti-NHLRC1 Antibody |
| 抗体コード: | CAB6669 |
| 抗体サイズ: | 20uL, 50uL, 100uL |
| 申し込み: | WB IHC IF |
| 反応性: | Human, Mouse, Rat |
| 宿主種: | Rabbit |
| 免疫原: | Recombinant fusion protein containing a sequence corresponding to amino acids 1-280 of human NHLRC1 (NP_940988.2). |
| 申し込み: | WB IHC IF |
| 推奨希釈: | WB 1:500 - 1:2000 IHC 1:50 - 1:200 IF 1:50 - 1:200 |
| 反応性: | Human, Mouse, Rat |
| ポジティブサンプル: | Mouse liver, Mouse brain, Mouse heart, Rat brain, Rat heart, Rat liver |
| 免疫原: | Recombinant fusion protein containing a sequence corresponding to amino acids 1-280 of human NHLRC1 (NP_940988.2). |
| 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: | MAAE ASES GPAL HELM REAE ISLL ECKV CFEK FGHR QQRR PRNL SCGH VVCL ACVA ALAH PRTL ALEC PFCR RACR GCDT SDCL PVLH LIEL LGSA LRQS PAAH RAAP SAPG ALTC HHTF GGWG TLVN PTGL ALCP KTGR VVVV HDGR RRVK IFDS GGGC AHQF GEKG DAAQ DIRY PVDV TITN DCHV VVTD AGDR SIKV FDFF GQIK LVIG GQFS LPWG VETT PQNG IVVT DAEA GSLH LLDV DFAE GVLR RTER LQAH LCNP RGVA VSWL TGAI AVLE |
| 遺伝子ID: | 378884 |
| Uniprot: | Q6VVB1 |
| セルラーロケーション: | Endoplasmic reticulum, Nucleus |
| 計算された分子量: | 42kDa |
| 観察された分子量: | 42kDa |
| 同義語: | NHLRC1, EPM2A, EPM2B, MALIN, bA204B7.2 |
| バックグラウンド: | The protein encoded by this gene is a single subunit E3 ubiquitin ligase. Laforin is polyubiquitinated by the encoded protein. Defects in this intronless gene lead to an accumulation of laforin and onset of Lafora disease, also known as progressive myoclonic epilepsy type 2 (EPM2). |
| UniProt Protein Function: | NHLRC1: E3 ubiquitin-protein ligase which in complex with EPM2A/laforin and HSP70 suppresses the cellular toxicity of misfolded proteins by promoting their degradation through the ubiquitin-proteasome system (UPS). Ubiquitinates PPP1R3C/PTG in a laforin-dependent manner, and targets it for proteasome-dependent degradation and this degradation decreases glycogen accumulation. Polyubiquitinates EPM2A/laforin and ubiquitinates AGL and targets them for proteasome-dependent degradation. Defects in NHLRC1 are a cause of progressive myoclonic epilepsy type 2 (EPM2); also known as Lafora disease. EPM2 is an autosomal recessive and severe form of adolescent-onset progressive epilepsy. Typically, as seizures increase in frequency, cognitive function declines towards dementia, and affected individuals die usually within 10 years after onset. EPM2 occurs worldwide, but it is particularly common in the mediterranean countries of southern Europe and northern Africa, in southern India and in the Middle East. At the cellular level, it is characterized by accumulation of starch-like polyglucosans called Lafora bodies (LBs) that are most abundant in organs with the highest glucose metabolism: brain, heart, liver and skeletal muscle. Among other conditions involving polyglucosans, EPM2 is unique in that the inclusions are in neuronal dendrites but not axons and the forming polyglucosan fibrils are associated with the endoplasmic reticulum. |
| UniProt Protein Details: | Protein type:Ubiquitin conjugating system; EC 6.3.2.19; Ubiquitin ligase; Ligase; EC 6.3.2.- Chromosomal Location of Human Ortholog: 6p22.3 Cellular Component: perinuclear region of cytoplasm; endoplasmic reticulum; cytosol; nucleus Molecular Function:protein binding; zinc ion binding; ubiquitin-protein ligase activity; ligase activity Biological Process: proteasomal ubiquitin-dependent protein catabolic process; glycogen biosynthetic process; protein polyubiquitination; positive regulation of protein ubiquitination; carbohydrate metabolic process; autophagy; glucose metabolic process; pathogenesis Disease: Myoclonic Epilepsy Of Lafora |
| NCBI Summary: | The protein encoded by this gene is a single subunit E3 ubiquitin ligase. Laforin is polyubiquitinated by the encoded protein. Defects in this intronless gene lead to an accumulation of laforin and onset of Lafora disease, also known as progressive myoclonic epilepsy type 2 (EPM2).[provided by RefSeq, Mar 2010] |
| UniProt Code: | Q6VVB1 |
| NCBI GenInfo Identifier: | 50400890 |
| NCBI Gene ID: | 378884 |
| NCBI Accession: | Q6VVB1.2 |
| UniProt Secondary Accession: | Q6VVB1,Q3SYB1, Q5VUK7, Q6IMH1, |
| UniProt Related Accession: | Q6VVB1 |
| Molecular Weight: | 395 |
| NCBI Full Name: | E3 ubiquitin-protein ligase NHLRC1 |
| NCBI Synonym Full Names: | NHL repeat containing E3 ubiquitin protein ligase 1 |
| NCBI Official Symbol: | NHLRC1 |
| NCBI Official Synonym Symbols: | EPM2A; EPM2B; MALIN; bA204B7.2 |
| NCBI Protein Information: | E3 ubiquitin-protein ligase NHLRC1; NHL repeat containing 1; NHL repeat-containing protein 1 |
| UniProt Protein Name: | E3 ubiquitin-protein ligase NHLRC1 |
| UniProt Synonym Protein Names: | Malin; NHL repeat-containing protein 1 |
| Protein Family: | E3 ubiquitin-protein ligase |
| UniProt Gene Name: | NHLRC1 |
| UniProt Entry Name: | NHLC1_HUMAN |
 | Western blot analysis of extracts of various cell lines, using NHLRC1 antibody (CAB6669) at 1:1000 dilution. Secondary antibody: HRP Goat Anti-Rabbit IgG (H+L) (CABS014) at 1:10000 dilution. Lysates/proteins: 25ug per lane. Blocking buffer: 3% nonfat dry milk in TBST. Detection: ECL Basic Kit (RM00020). Exposure time: 30s. |
 | Immunohistochemistry of paraffin-embedded human stomach using NHLRC1 antibody (CAB6669) at dilution of 1:100 (40x lens). |
 | Immunohistochemistry of paraffin-embedded mouse heart using NHLRC1 antibody (CAB6669) at dilution of 1:100 (40x lens). |
 | Immunofluorescence analysis of HeLa cells using NHLRC1 antibody (CAB6669). Blue: DAPI for nuclear staining. |
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