| 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
|