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 |
Malin (C-16) - sc-54232 from Santa Cruz Biotechnology
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Malin (H-123) - sc-67360 from Santa Cruz Biotechnology
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Malin (N-19) - sc-54234 from Santa Cruz Biotechnology
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Anti-NHLRC1 antibody - ab197247 from Abcam
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Anti-NHLRC1 antibody [S85-18] (Biotin) - ab186273 from Abcam
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Anti-NHLRC1 antibody [S85-18] (HRP) - ab186251 from Abcam
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Anti-NHLRC1 antibody [S8518] - ab186261 from Abcam
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Anti-NHLRC1 antibody [S8518] (FITC) - ab186336 from Abcam
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Anti-MALIN / NHLRC1 Antibody (aa2-125, clone S85-18, Atto 390) - LS-C229153 from LifeSpan Bioscience
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Anti-MALIN / NHLRC1 Antibody (aa2-125, clone S85-18) - LS-C209535 from LifeSpan Bioscience
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Anti-MALIN / NHLRC1 Antibody (aa2-125, clone S85-18, RPE) - LS-C229159 from LifeSpan Bioscience
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Anti-MALIN / NHLRC1 Antibody (aa2-125, clone S85-18, PE, Atto 594) - LS-C229158 from LifeSpan Bioscience
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Anti-MALIN / NHLRC1 Antibody (aa2-125, clone S85-18, Atto 594) - LS-C229157 from LifeSpan Bioscience
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Anti-MALIN / NHLRC1 Antibody (aa2-125, clone S85-18, Atto 633) - LS-C230089 from LifeSpan Bioscience
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Anti-MALIN / NHLRC1 Antibody (aa2-125, clone S85-18, PerCP) - LS-C229160 from LifeSpan Bioscience
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Anti-MALIN / NHLRC1 Antibody (aa2-125, clone S85-18, SA) - LS-C229161 from LifeSpan Bioscience
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Anti-MALIN / NHLRC1 Antibody (aa2-125, clone S85-18, Atto 655) - LS-C230090 from LifeSpan Bioscience
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Anti-MALIN / NHLRC1 Antibody (aa2-125, clone S85-18, Atto 700) - LS-C230093 from LifeSpan Bioscience
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Anti-MALIN / NHLRC1 Antibody (aa2-125, clone S85-18, Atto 680) - LS-C230091 from LifeSpan Bioscience
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Anti-MALIN / NHLRC1 Antibody (aa2-125, clone S85-18, AP) - LS-C230094 from LifeSpan Bioscience
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Anti-MALIN / NHLRC1 Antibody (aa2-125, clone S85-18, APC) - LS-C230096 from LifeSpan Bioscience
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Anti-MALIN / NHLRC1 Antibody (aa2-125, clone S85-18, Biotin) - LS-C230097 from LifeSpan Bioscience
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Anti-MALIN / NHLRC1 Antibody (aa2-125, clone S85-18, FITC) - LS-C230099 from LifeSpan Bioscience
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Anti-MALIN / NHLRC1 Antibody - LS-C335697 from LifeSpan Bioscience
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Anti-MALIN / NHLRC1 Antibody (aa2-125, clone S85-18, Atto 488) - LS-C229155 from LifeSpan Bioscience
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