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Tbio
NHLRC1
E3 ubiquitin-protein ligase NHLRC1

Protein Summary
Description
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
Uniprot Accession IDs
Gene Name
Ensembl ID
  • ENST00000340650
  • ENSP00000345464
  • ENSG00000187566

Symbol
  • EPM2B
  • EPM2A
  • EPM2B
  • MALIN
  • bA204B7.2
Illumination Graph
Knowledge Table
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


Related Tools
Target Illumination GWAS Analytics (TIGA)
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TIGA scores and ranks GWAS discovered associations according to the quantity and quality of the evidence supporting the association.
GENEVA
Thumbnail image for GENEVA
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
Thumbnail image for GlyGen
GlyGen is a data integration and dissemination project for carbohydrate and glycoconjugate related data.
IDG Development Level Summary
Tdark

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)
Tbio

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
Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0
Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0
GWAS Traits (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
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
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
Protein Structure (0 Structures, 1 AlphaFold Model)
RepresentationColor Scheme
AF-Q6VVB1-F1-model_v1

AlphaFold Structures Developed by DeepMind and EMBL-EBI

Pathways (11)
Disease (R-HSA-1643685)

Click on a row in the table to change the structure displayed.

Items per page:
1 – 5 of 9
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
Protein-Protein Interactions (67)
1 – 10 of 67
EPM2A
Tbio
Family:  Enzyme
Novelty:  0.00846992
Score:  0.997
Data Source:  STRINGDB
EPM2A
Tbio
Novelty:  0.00846992
Score:  0.997
Data Source:  STRINGDB
PPP1R3C
Tbio
Family:  Enzyme
Novelty:  0.01784199
Score:  0.987
Data Source:  STRINGDB
GYS1
Tchem
Family:  Enzyme
Novelty:  0.00721964
Score:  0.982
Data Source:  STRINGDB
GYG1
Tbio
Family:  Enzyme
Novelty:  0.01446978
Score:  0.953
Data Source:  STRINGDB
GYS2
Tbio
Family:  Enzyme
Novelty:  0.01522741
Score:  0.933
Data Source:  STRINGDB
UBB
Tbio
Novelty:  0.00661254
Score:  0.932
Data Source:  STRINGDB
GYG2
Tbio
Family:  Enzyme
Novelty:  0.01520991
Score:  0.926
Data Source:  STRINGDB
UBC
Tbio
Novelty:  0.00204643
Score:  0.909
Data Source:  STRINGDB
RPS27A
Tbio
Novelty:  0.00658124
Score:  0.909
Data Source:  STRINGDB
Publication Statistics
PubMed Score  146.04

PubMed score by year
PubTator Score  118.1

PubTator score by year
Amino Acid Sequence
Residue Counts
Protein Sequence
ProtVista Viewer
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