NHLRC1 Antibody (PACO44356)
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주문- SKU:
- PACO44356
- Product type:
- Antibody
- Reactivity:
- Human
- Reactivity:
- Rat
- Host Species:
- Rabbit
- Isotype:
- IgG
- Application:
- ELISA
- Application:
- WB
- Application:
- IHC
- Antibody type:
- Polyclonal
- Conjugation:
- Unconjugated
Frequently bought together:
Description
Antibody Name: | NHLRC1 Antibody (PACO44356) |
Antibody SKU: | PACO44356 |
Size: | 50ul |
Host Species: | Rabbit |
Tested Applications: | ELISA, WB, IHC |
Recommended Dilutions: | ELISA:1:2000-1:10000, WB:1:1000-1:5000, IHC:1:20-1:200 |
Species Reactivity: | Human, Rat |
Immunogen: | Recombinant Human E3 ubiquitin-protein ligase NHLRC1 protein (1-280AA) |
Form: | Liquid |
Storage Buffer: | PBS with 0.02% sodium azide, 50% glycerol, pH7.3. |
Purification Method: | Antigen Affinity Purified |
Clonality: | Polyclonal |
Isotype: | IgG |
Conjugate: | Non-conjugated |
Western blot. All lanes: NHLRC1 antibody at 3.13µg/ml. Lane 1: LO2 whole cell lysate. Lane 2: Rat liver tissue. Secondary. Goat polyclonal to rabbit IgG at 1/10000 dilution. Predicted band size: 42 kDa. Observed band size: 42 kDa.. | |
Immunohistochemistry of paraffin-embedded human liver tissue using PACO44356 at dilution of 1:100. | |
Immunohistochemistry of paraffin-embedded human heart tissue using PACO44356 at dilution of 1:100. |
Background: | E3 ubiquitin-protein ligase. Together with the phosphatase EPM2A/laforin, appears to be involved in the clearance of toxic polyglucosan and protein aggregates via multiple pathways. 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 the glycogen-targeting protein phosphatase subunits PPP1R3C/PTG and PPP1R3D in a laforin-dependent manner and targets them for proteasome-dependent degradation, thus decreasing glycogen accumulation. Polyubiquitinates EPM2A/laforin and ubiquitinates AGL and targets them for proteasome-dependent degradation. Also promotes proteasome-independent protein degradation through the macroautophagy pathway. |
Synonyms: | E3 ubiquitin-protein ligase NHLRC1 (EC 2.3.2.27) (Malin) (NHL repeat-containing protein 1) (RING-type E3 ubiquitin transferase NHLRC1), NHLRC1, EPM2B |
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 |