NHLRC1 Gene Summary [Human]
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]
Details
| Type | Protein Coding |
| Official Symbol | NHLRC1 |
| Official Name | NHL repeat containing E3 ubiquitin protein ligase 1 [Source:HGNC Symbol;Acc:HGNC:21576] |
| Ensembl ID | ENSG00000187566 |
| Bio databases IDs | |
| Aliases | NHL repeat containing E3 ubiquitin protein ligase 1, epilepsy, progressive myoclonus type 2B, malin |
| Synonyms | B230309E09Rik, bA204B7.2, EPM2A, EPM2B, MALIN, MELF2, NHL repeat containing 1, NHL repeat containing E3 ubiquitin protein ligase 1 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human NHLRC1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- thiopurine S-methyltransferase
- RING-type zinc-finger
- ubiquitin protein ligase activity
- RING finger (Really Interesting New Gene) domain and U-box domain superfamily
- Ring finger
- ubiquitin-protein transferase activity
- enzyme
- Ring finger domain
- protein binding
- NHL repeat unit of beta-propeller proteins
- Zinc finger, C3HC4 type (RING finger)
- zinc-RING finger domain
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- LaFora epilepsy
- myoclonic epilepsy of Lafora type 2
- hereditary disorder
- lipofuscinosis
- psoriasis
- myoclonus
regulated by
- D-glucose
- WNT3A
role in cell
- phosphorylation in
- accumulation
- cell death
- formation
- abnormal morphology
- autophagy by
- endoplasmic reticulum stress response in
- degradation in
- ubiquitination in
- accumulation in
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- perinuclear region
- Nucleus
- Endoplasmic Reticulum
- cytosol
- nucleoplasm
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human NHLRC1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- glycogen biosynthetic process
- proteasomal ubiquitin-dependent protein catabolic process
- regulation of protein phosphorylation
- protein polyubiquitination
- autophagy
- positive regulation of protein ubiquitination
- negative regulation of translation
- response to endoplasmic reticulum stress
Cellular Component
Where in the cell the gene product is active
- nucleus
- perinuclear region of cytoplasm
- cytosol
- endoplasmic reticulum
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- ubiquitin-protein ligase activity
- protein binding
- metal ion binding
- translation repressor activity