NHLRC1
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].
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Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
OMIM IDMIM:608072 Ensembl IDEnsembl:ENSG00000187566 HGNC IDHGNC:HGNC:21576 PHARMGKB IDPA134916338 Map Location6p22.3 | |||||
GO terms in NHLRC1
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Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| MF | EXP | GO:0004842 | ubiquitin-protein transferase activity |
| MF | IDA | GO:0004842 | ubiquitin-protein transferase activity |
| MF | IPI | GO:0005515 | protein binding |
| MF | IEA | GO:0046872 | metal ion binding |
| MF | IBA | GO:0061630 | ubiquitin protein ligase activity |
| MF | IEA | GO:0061630 | ubiquitin protein ligase activity |
Gene expression in normal tissue: NHLRC1
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in NHLRC1
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Database | Pathway ID | Pathway Des. |
|---|---|---|
| reactome | R-HSA-1430728 | Metabolism |
| reactome | R-HSA-1643685 | Disease |
| reactome | R-HSA-3229121 | Glycogen storage diseases |
| reactome | R-HSA-3322077 | Glycogen synthesis |
| reactome | R-HSA-3785653 | Myoclonic epilepsy of Lafora |
| reactome | R-HSA-5663084 | Diseases of carbohydrate metabolism |
Gene-Drug: Aster Plot
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Drug ID | Drug Name | Model Num. |
|---|---|---|
| iGMDRD353 | PD0325901 | 3 |
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Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in NHLRC1
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Model | Level | Reference ID | Tissue | Cancer | Drug | Clinical Response | Source | |
|---|---|---|---|---|---|---|---|---|
| No matching records found | ||||||||
CLASSFICATION
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