NHLRC1 - NHL repeat containing E3 ubiquitin protein ligase 1 Gene
Also Known as EPM2A; EPM2B; MALIN; bA204B7.2
Species: Homo sapiens
About NHLRC1
This gene has 1 transcript (splice variant), 165 orthologues and is associated with 2 phenotypes.
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]
NHLRC1 Products (1)
| mRNA | Protein | Name |
|---|---|---|
| NM_198586.3 | NP_940988.2 | E3 ubiquitin-protein ligase NHLRC1 |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
15930137 | GOA |
| enables ubiquitin-protein transferase activity |
EXP
EXP: Inferred from Experiment
|
15930137 | GOA |
| enables ubiquitin-protein transferase activity |
IDA
IDA: Inferred from direct assay
|
15930137 | GOA |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| involved in proteasome-mediated ubiquitin-dependent protein catabolic process |
IDA
IDA: Inferred from direct assay
|
15930137 | GOA |
| involved in protein polyubiquitination |
IDA
IDA: Inferred from direct assay
|
15930137 | GOA |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| located in nucleus |
IDA
IDA: Inferred from direct assay
|
17908927 | GOA |
NHLRC1 Protein Structure
zf-RING_5: zinc-RING finger domain (25 - 73)
- 0
- 100
- 200
- 300
- 395 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
E3 ubiquitin-protein ligase NHLRC1 |
|
NHLRC1 Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | References |
|---|---|---|---|---|---|---|---|
|
Cross
|
NHLRC1 | Q6VVB1 | Epm2a | Mus musculus | Q9WUA5 | 22578008 | |
|
Cross
|
NHLRC1 | Q6VVB1 | Epm2a | Mus musculus | Q9WUA5 | 22578008 | |
|
Intra
|
NHLRC1 | Q6VVB1 | EPM2A | Homo sapiens | O95278 | 15930137 | |
|
Intra
|
NHLRC1 | Q6VVB1 | EPM2A | Homo sapiens | O95278 | 15930137 | |
|
Intra
|
NHLRC1 | Q6VVB1 | EPM2A | Homo sapiens | O95278 | 15930137 | |
|
Intra
|
NHLRC1 | Q6VVB1 | EPM2A | Homo sapiens | O95278 | 33961781 | |
|
Intra
|
NHLRC1 | Q6VVB1 | EPM2A | Homo sapiens | O95278 | 15930137 |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Myoclonic Epilepsy Of Lafora |
|
|
| Epilepsy |
|
|
| Myoclonus |
|
|
| Neuroleptic Malignant Syndrome |
|
|
| Progressive Myoclonus Epilepsy |
|
|
| Dementia |
|
|
| Unverricht-Lundborg Syndrome |
|
|
| Progressive Myoclonus Epilepsy 10 |
|
|
| Myoclonus Epilepsy |
|
|
| Progressive Myoclonus Epilepsy 6 |
|
|
| Status Epilepticus |
|
|
| Glycogen Storage Disease Iv |
|
|
| Neonatal Period Electroclinical Syndrome |
|
|
| Glycoproteinosis |
|
|
| Early Myoclonic Encephalopathy |
|
|
| Progressive Myoclonus Epilepsy 4 |
|
|
| Capillary Malformations, Congenital |
|
|
| Photosensitive Epilepsy |
|
|
| Epilepsy, Myoclonic Juvenile |
|
|
| Neuronal Ceroid Lipofuscinosis |
|
|
| Childhood Absence Epilepsy |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Rattus norvegicus | NHLRC1 | RGD | RGD:735081 |
| Macaca mulatta | NHLRC1 | VGNC | VGNC:75229 |
| Bos taurus | NHLRC1 | VGNC | VGNC:32067 |
| Felis catus | NHLRC1 | VGNC | VGNC:63796 |
| Mus musculus | NHLRC1 | MGD | MGI:2145264 |
| Canis familiaris | NHLRC1 | VGNC | VGNC:43800 |
| Others | NHLRC1 | NCBI |