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 known as progressive myoclonic epilepsy type 2 (EPM2).[provided by RefSeq, Mar 2010]

Uniprot Accession IDs

• Q6VVB1
• Q3SYB1
• Q5VUK7
• Q6IMH1

Gene Name

• NHLRC1

Ensembl ID

• ENST00000340650
• ENSP00000345464
• ENSG00000187566

Symbol

• EPM2B
• EPM2A
• EPM2B
• MALIN
• bA204B7.2

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

Protein Classes

PANTHER Classes

Protein / Ligase / Ubiquitin-protein Ligase / E3 Ubiquitin-protein Ligase Nhlrc1

DTO Classes

Protein / Enzyme / Ligase / Ubiquitin-protein Ligase / E3 Ubiquitin-protein Ligase Nhlrc1

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: 165.71   (req: < 5)

Gene RIFs: 37   (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: 165.71   (req: >= 5)

Gene RIFs: 37   (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