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].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| NHL repeat containing E3 ubiquitin protein ligase 1 | MIM:608072 | Ensembl:ENSG00000187566 | HGNC:HGNC:21576 | PA134916338 | 6p22.3 |
GO terms in NHLRC1
| 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 |
| CC | IBA | GO:0005634 | nucleus |
| CC | IDA | GO:0005634 | nucleus |
| CC | IEA | GO:0005783 | endoplasmic reticulum |
| CC | TAS | GO:0005829 | cytosol |
| CC | IEA | GO:0048471 | perinuclear region of cytoplasm |
| BP | IBA | GO:0000209 | protein polyubiquitination |
| BP | IDA | GO:0000209 | protein polyubiquitination |
| BP | TAS | GO:0005978 | glycogen biosynthetic process |
| BP | IEA | GO:0006914 | autophagy |
| BP | IEA | GO:0031398 | positive regulation of protein ubiquitination |
| BP | IBA | GO:0043161 | proteasome-mediated ubiquitin-dependent protein catabolic process |
| BP | IDA | GO:0043161 | proteasome-mediated ubiquitin-dependent protein catabolic process |
Gene expression in normal tissue: NHLRC1
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in NHLRC1
| 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 |
| reactome | R-HSA-5668914 | Diseases of metabolism |
| reactome | R-HSA-71387 | Metabolism of carbohydrates |
| reactome | R-HSA-8982491 | Glycogen metabolism |
| kegg | hsa04120 | Ubiquitin mediated proteolysis - Homo sapiens (human) |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in NHLRC1
CLASSFICATION
Copyright © 2018 Modellab | All Rights Reserved
Disclaimer: iGMDR is intended for research purposes only. Its information cannot be used for emergencies or medical or professional advice.