NHLRC1
E3 ubiquitin-protein ligase NHLRC1
Protein Summary
E3 ubiquitin-protein ligase. Together with the phosphatase EPM2A/laforin, appears to be involved in the clearance of toxic polyglucosan and protein aggregates via multiple pathways. In complex with EPM2A/laforin and HSP70, suppresses the cellular toxicity of misfolded proteins by promoting their degradation through the ubiquitin-proteasome system (UPS). Ubiquitinates the glycogen-targeting protein phosphatase subunits PPP1R3C/PTG and PPP1R3D in a laforin-dependent manner and targets them for proteasome-dependent degradation, thus decreasing glycogen accumulation. Polyubiquitinates EPM2A/laforin and ubiquitinates AGL and targets them for proteasome-dependent degradation. Also promotes proteasome-independent protein degradation through the macroautophagy pathway. 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 ...more
- ENST00000340650
- ENSP00000345464
- ENSG00000187566
- EPM2B
- EPM2A
- EPM2B
- MALIN
- bA204B7.2
Most Knowledge About | Knowledge Value
(0 to 1 scale) | ||
|---|---|---|---|
histone modification site profile | 0.83 | ||
protein domain | 0.73 | ||
transcription factor binding site profile | 0.65 | ||
biological process | 0.64 | ||
tissue sample | 0.59 | ||
Protein Classes
IDG Development Level Summary
These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:
Pubmed score: 146.04 (req: < 5)
Gene RIFs: 33 (req: <= 3)
Antibodies: 253 (req: <= 50)
These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:
Pubmed score: 146.04 (req: >= 5)
Gene RIFs: 33 (req: > 3)
Antibodies: 253 (req: > 50)
- OR - satisfy the following criterion:
Gene Ontology Terms: 8
Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions
Active Ligand: 0
Target has at least one approved drug - AND - satisfies the preceding conditions
Active Drug: 0
Expression Data (0 Tissues)
Protein Sequence and Structure
Residue Counts
Protein Sequence
ProtVista Viewer
Related Tools (4)
TIGA scores and ranks GWAS discovered associations according to the quantity and quality of the evidence supporting the association.
GENEVA (GENe Expression Variance Analysis) allows you to identify RNA-sequencing datasets from the Gene Expression Omnibus (GEO) that contain conditions modulating a gene or a gene signature.
GlyGen is a data integration and dissemination project for carbohydrate and glycoconjugate related data.
ARCHS4 provides access to gene-function predictions based on RNA-seq co-expression, and gene expression levels across cell and tissues.
Approved Drugs (0)
Active Ligands (0)
Protein-Protein Interactions (67)
Nearest Tclin Targets
Pathways (11)
Reactome (9)
KEGG (1)
UniProt (1)
Click on a row in the table to change the structure displayed.
Data Source | Name | Explore in Pharos | Explore in Source | ||
|---|---|---|---|---|---|
Reactome | Disease | ||||
Reactome | Diseases of carbohydrate metabolism | ||||
Reactome | Diseases of metabolism | ||||
Reactome | Glycogen metabolism | ||||
Reactome | Glycogen storage diseases | ||||
Name | Explore in Pharos | Explore in Source | ||
|---|---|---|---|---|
Disease | ||||
Diseases of carbohydrate metabolism | ||||
Diseases of metabolism | ||||
Glycogen metabolism | ||||
Glycogen storage diseases | ||||
Viral Interactions (0)
Gene Ontology Terms (12)
Functions (3)
Components (4)
Processes (5)
GO Term | Evidence | Assigned by | ||
|---|---|---|---|---|
Inferred from Direct Assay (IDA) | UniProtKB | |||
Inferred from Biological aspect of Ancestor (IBA) | GO_Central | |||
Inferred from Electronic Annotation (IEA) | UniProtKB-KW | |||
Disease Associations (null)
GWAS Traits (7)
Items per page:
1 – 5 of 7
GWAS Trait | EFO ID | Study Count | SNP Count | Beta Count | Odds Ratio | Evidence (Mean Rank Score) | Provenance | ||
|---|---|---|---|---|---|---|---|---|---|
response to mercaptopurine | 1 | 1 | 0 | 7.7 | 85.5 | ||||
thiopurine methyltransferase activity measurement | 1 | 1 | 0 | 7.7 | 85.5 | ||||
2 | 1 | 0 | 1.1 | 77 | |||||
1 | 1 | 0 | 5.6 | 21.5 | |||||
age at onset | 1 | 1 | 0 | 5.6 | 21.5 | ||||
Items per page:
1 – 5 of 7
GWAS Trait | EFO ID | Beta Count | Odds Ratio | Evidence (Mean Rank Score) | Provenance | ||
|---|---|---|---|---|---|---|---|
response to mercaptopurine | 0 | 7.7 | 85.5 | ||||
thiopurine methyltransferase activity measurement | 0 | 7.7 | 85.5 | ||||
0 | 1.1 | 77 | |||||
0 | 5.6 | 21.5 | |||||
age at onset | 0 | 5.6 | 21.5 | ||||
Find similar targets by:
IDG Resources
Orthologs (11)
1 – 5 of 11
Species | Name | Source ID | Gene ID | OMA | EggNOG | Inparanoid | ||
|---|---|---|---|---|---|---|---|---|
Chimp | NHL repeat containing E3 ubiquitin protein ligase 1 | VGNC:3589 | 747581 | |||||
Macaque | NHL repeat containing E3 ubiquitin protein ligase 1 | 704451 | ||||||
Mouse | MGI:2145264 | 105193 | ||||||
Rat | RGD:735081 | 364682 | ||||||
Dog | NHL repeat containing E3 ubiquitin protein ligase 1 | VGNC:43800 | 474161 | |||||
Species | Name | OMA | EggNOG | Inparanoid | ||
|---|---|---|---|---|---|---|
Chimp | NHL repeat containing E3 ubiquitin protein ligase 1 | |||||
Macaque | NHL repeat containing E3 ubiquitin protein ligase 1 | |||||
Mouse | ||||||
Rat | ||||||
Dog | NHL repeat containing E3 ubiquitin protein ligase 1 | |||||
Publication Statistics
PubMed Score 146.04
PubMed score by year
PubTator Score 118.10
PubTator score by year
Related Publications
Text Mined References (40)
GeneRif Annotations (33)
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0 of 0
PMID | Year | Title |
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