NHL repeat containing E3 ubiquitin protein ligase 1
Symbol
NHLRC1
(may also be known as: None)
Organism
Human
Description
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]
Orthologs
| Symbol | Species | |
|---|---|---|
| Nhlrc1 | Mus musculus | |
| Nhlrc1 | Rattus norvegicus |
Links to external resources
Changes associated with this gene
GO Terms
| GO ID | GO Term | GO Category | |
|---|---|---|---|
| GO:0000209 | protein polyubiquitination | biological_process | |
| GO:0031398 | positive regulation of protein ubiquitination | biological_process | |
| GO:0043161 | proteasomal ubiquitin-dependent protein catabolic process | biological_process | |
| GO:0005634 | nucleus | cellular_component | |
| GO:0005783 | endoplasmic reticulum | cellular_component | |
| GO:0048471 | perinuclear region of cytoplasm | cellular_component | |
| GO:0004842 | ubiquitin-protein ligase activity | molecular_function | |
| GO:0005515 | protein binding | molecular_function | |
| GO:0008270 | zinc ion binding | molecular_function | |
| GO:0016874 | ligase activity | molecular_function | |
| GO:0046872 | metal ion binding | molecular_function | |