NHLRC1
| Gene Symbol | NHLRC1 |
|---|---|
| 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 |
Malin CRISPR/Cas9 KO Plasmid (h) - sc-407528 from Santa Cruz Biotechnology
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Malin HDR Plasmid (h) - sc-407528-HDR from Santa Cruz Biotechnology
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Malin Double Nickase Plasmid (h) - sc-407528-NIC from Santa Cruz Biotechnology
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Malin Double Nickase Plasmid (h2) - sc-407528-NIC-2 from Santa Cruz Biotechnology
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Malin CRISPR Activation Plasmid (h) - sc-407528-ACT from Santa Cruz Biotechnology
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Malin CRISPR Activation Plasmid (h2) - sc-407528-ACT-2 from Santa Cruz Biotechnology
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Malin Lentiviral Activation Particles (h) - sc-407528-LAC from Santa Cruz Biotechnology
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Malin Lentiviral Activation Particles (h2) - sc-407528-LAC-2 from Santa Cruz Biotechnology
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Malin siRNA (h) - sc-106193 from Santa Cruz Biotechnology
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Malin shRNA Plasmid (h) - sc-106193-SH from Santa Cruz Biotechnology
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Malin shRNA (h) Lentiviral Particles - sc-106193-V from Santa Cruz Biotechnology
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Laforin/EPM2A RNAi - H00007957-R02 from Novus Biologicals
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Laforin/EPM2A RNAi - H00007957-R01 from Novus Biologicals
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MISSION® esiRNA - EHU056031 from Sigma-Aldrich
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CompoZr® Knockout ZFN Kit - CKOZFN15282 from Sigma-Aldrich
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CompoZr® Knockout ZFN Kit, ZFN plasmid only - CKOZFND15282 from Sigma-Aldrich
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MISSION® 3′UTR Lenti GoClone™ - HUTR12359 from Sigma-Aldrich
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NHLRC1 siRNA (Human) - CRJ7700 from Cohesion Biosciences
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NHLRC1 RNAi - H00378884-R01 from Novus Biologicals
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shRNA set against Human NHLRC1 (NM_198586.2) - SHH352240 from Creative biogene
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shRNA set against Human NHLRC1(NM_198586.2) - SHH217843 from Creative biogene
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NHLRC1 shRNA Plasmid (Human) - CHJ7700 from Cohesion Biosciences
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NHLRC1 miRNA 3'UTR clone - MiUTR1H-06766 from Creative biogene
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