QuickView for NHLRC1 (gene)
- Gene Symbol:
- NHLRC1
Homo sapiens - Full name:
- NHL repeat containing E3 ubiquitin protein ligase 1
- Synonyms:
- EPM2A, EPM2B, MALIN, bA204B7.2, E3 ubiquitin-protein ligase NHLRC1, NHL repeat containing 1, NHL repeat-containing protein 1, RING-type E3 ubiquitin transferase NHLRC1
- Genomic Location:
- Chr 6: 18228697-18230830
- 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).
- Orthologs:
- Mus musculus , Rattus norvegicus , Macaca mulatta , Gallus gallus , Canis lupus familiaris , Bos taurus , Pan troglodytes
- External Links:
- Entrez Gene
- Transcription Factor
Binding Sites:
- Cytogenetic Map:
-
6p22.3
GO Molecular Function
cation binding | catalytic activity | ubiquitin-like protein transferase activity | ubiquitin protein ligase activity | ion binding | protein binding | ubiquitin-protein transferase activity | transferase activity | ubiquitin-like protein ligase activity | metal ion binding
GO Biological Process
proteolysis | generation of precursor metabolites and energy | cellular process | organic substance catabolic process | proteolysis involved in cellular protein catabolic process | glycogen biosynthetic process | positive regulation of nitrogen compound metabolic process | cellular polysaccharide biosynthetic process | regulation of cellular process | regulation of metabolic process | catabolic process | positive regulation of cellular protein metabolic process | positive regulation of protein metabolic process | cellular polysaccharide metabolic process | regulation of protein ubiquitination | polysaccharide metabolic process | cellular protein catabolic process | proteasomal protein catabolic process | protein modification process | cellular biosynthetic process | macromolecule modification | glycogen metabolic process | nitrogen compound metabolic process | polysaccharide biosynthetic process | protein catabolic process | positive regulation of cellular metabolic process | regulation of nitrogen compound metabolic process | protein modification by small protein conjugation | cellular carbohydrate metabolic process | ubiquitin protein ligase activity | carbohydrate biosynthetic process | biosynthetic process | regulation of cellular protein metabolic process | carbohydrate metabolic process | autophagy | regulation of cellular metabolic process | regulation of protein metabolic process | proteasome-mediated ubiquitin-dependent protein catabolic process | protein polyubiquitination | protein metabolic process | positive regulation of protein modification process | protein ubiquitination | cellular macromolecule catabolic process | metabolic process | ubiquitin-protein transferase activity | oxidation-reduction process | glucan biosynthetic process | organic substance metabolic process | protein modification by small protein conjugation or removal | ubiquitin-dependent protein catabolic process | organonitrogen compound catabolic process | energy reserve metabolic process | cellular protein metabolic process | cellular macromolecule biosynthetic process | energy derivation by oxidation of organic compounds | cellular glucan metabolic process | cellular protein modification process | positive regulation of metabolic process | cellular metabolic process | modification-dependent protein catabolic process | positive regulation of protein ubiquitination | macromolecule metabolic process
GO Cellular Component
intracellular membrane-bounded organelle | cell | cytoplasm | intracellular organelle | endoplasmic reticulum | endomembrane system | perinuclear region of cytoplasm | membrane-bounded organelle | nucleus | organelle | cytosol | intracellular
