Gene Symbol | NHLRC1 |
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Entrez Gene | 378884 |
Alt Symbol | EPM2A, EPM2B, MALIN, bA204B7.2 |
Species | Human |
Gene Type | protein-coding |
Description | NHL repeat containing E3 ubiquitin protein ligase 1 |
Other Description | E3 ubiquitin-protein ligase NHLRC1|NHL repeat containing 1|NHL repeat-containing protein 1 |
Swissprots | Q3SYB1 Q6IMH1 Q5VUK7 Q6VVB1 |
Accessions | EAW55392 Q6VVB1 AY324850 AAQ19671 BC103888 AAI03889 BC103889 AAI03890 BC103890 AAI03891 BK001510 DAA01954 NM_198586 NP_940988 |
Function | 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. {ECO:0000269|PubMed:15930137, ECO:0000269|PubMed:17908927, ECO:0000269|PubMed:18070875, ECO:0000269|PubMed:19036738, ECO:0000269|PubMed:21505799, ECO:0000269|PubMed:23624058}. |
Subcellular Location | Endoplasmic reticulum. Nucleus. Note=Localizes at the endoplasmic reticulum and, to a lesser extent, in the nucleus. |
Tissue Specificity | Expressed in brain, cerebellum, spinal cord, medulla, heart, liver, skeletal muscle and pancreas. {ECO:0000269|PubMed:12958597}. |
Top Pathways | Ubiquitin mediated proteolysis |
Human NHLRC1 protein fragment - ab166392 from Abcam
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NHLRC1 peptide (385-395) - ab45674 from Abcam
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EPM2A / Laforin Antibody Blocking Peptide - LS-E3365 from LifeSpan Bioscience
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EPM2A / Laforin Antibody Blocking Peptide - LS-E31329 from LifeSpan Bioscience
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EPM2A / Laforin Antibody Blocking Peptide - LS-E23113 from LifeSpan Bioscience
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EPM2A / Laforin Antibody Blocking Peptide - LS-E23114 from LifeSpan Bioscience
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EPM2A / Laforin Antibody Blocking Peptide - LS-E26732 from LifeSpan Bioscience
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Recombinant Human NHLRC1 Protein - H00378884-Q01 from Novus Biologicals
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Recombinant Human Laforin/EPM2A Protein - H00007957-P01 from Novus Biologicals
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Recombinant Human Laforin/EPM2A Protein - H00007957-Q01 from Novus Biologicals
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Laforin/EPM2A Peptide - P0430 from Novus Biologicals
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NHLRC1-Antibody-Center-Blocking-peptide - BP13383c from Abgent, a WuXi AppTec company
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Goat anti EPM2A antibody Immunizing peptide - orb55061 from Biorbyt
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NHLRC1 - H00378884-Q01-10 from Acris Antibodies
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NHLRC1 - H00378884-Q01-25 from Acris Antibodies
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NHLRC1 fusion protein - Ag15940 from Proteintech Group
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NHLRC1 fusion protein - Ag17248 from Proteintech Group
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Recombinant Human NHLRC1, GST-tagged - NHLRC1-1291H from Creative Biomart
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Recombinant Human E3 ubiquitin-protein ligase NHLRC1(NHLRC1) - CSB-YP740936HU CSB-EP740936HU CSB-BP740936HU CSB-MP740936HU from Cusabio
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EPM2A Peptide, Human - M34GP05001H from Creative Peptides
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NHLRC1 Peptide, Human - M34GP10368H from Creative Peptides
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E3 ubiquitin-protein ligase NHLRC1 (NHLRC1), Recombinant Protein - MBS1344713 from MyBioSource
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