NHLRC1

Gene Information

Official Symbol: NHLRC1
Official Name: NHL repeat containing E3 ubiquitin protein ligase 1
Aliases and Previous Symbols: N/A
Entrez ID: 378884
UniProt: Q6VVB1
Interactions: BioGRID
PubMed articles: Open PubMed
OMIM: Open OMIM

Function Summary

Entrez 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].
UniProt 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. {ECO:0000269|PubMed:15930137, ECO:0000269|PubMed:17908927, ECO:0000269|PubMed:18070875, ECO:0000269|PubMed:19036738, ECO:0000269|PubMed:21505799, ECO:0000269|PubMed:23624058}.

Pfam Domains GO Terms

CRISPR Data

Compound Hit Most Correlated Genes in Chemogenomics Tissues where Essential in the Avana Dataset (DepMap 20Q1)

Global Fraction of Cell Lines Where Essential: 0/739

Tissue	Fraction Of Cell Lines Where Essential
1290807.0	0/1
909776.0	0/1
bile duct	0/28
blood	0/28
bone	0/26
breast	0/33
central nervous system	0/56
cervix	0/4
colorectal	0/17
esophagus	0/13
fibroblast	0/1
gastric	0/16
kidney	0/21
liver	0/20
lung	0/75
lymphocyte	0/16
ovary	0/26
pancreas	0/24
peripheral nervous system	0/16
plasma cell	0/15
prostate	0/1
skin	0/24
soft tissue	0/9
thyroid	0/2
upper aerodigestive	0/22
urinary tract	0/29
uterus	0/5

Essentiality in NALM6

Essentiality Rank: 9115
Expression level (log2 read counts): -7.68

Expression Distribution

Screen	Score
CCCP 0.1μM R00 exp10	1.73
Oligomycin-A 2μM R00 exp25	2.08

glucan biosynthetic process
glycogen biosynthetic process
polysaccharide biosynthetic process
cellular polysaccharide biosynthetic process
glycogen metabolic process
glucan metabolic process
cellular glucan metabolic process
cellular carbohydrate biosynthetic process
energy reserve metabolic process
cellular polysaccharide metabolic process
polysaccharide metabolic process
regulation of protein localization to plasma membrane
regulation of protein localization to cell periphery
positive regulation of protein ubiquitination
carbohydrate biosynthetic process
positive regulation of protein modification by small protein conjugation or removal
cellular carbohydrate metabolic process
regulation of protein localization to membrane
regulation of protein ubiquitination
ubiquitin protein ligase activity
regulation of protein modification by small protein conjugation or removal
energy derivation by oxidation of organic compounds
ubiquitin-protein transferase activity
response to endoplasmic reticulum stress
autophagy
process utilizing autophagic mechanism
protein polyubiquitination
proteasome-mediated ubiquitin-dependent protein catabolic process
proteasomal protein catabolic process
generation of precursor metabolites and energy
carbohydrate metabolic process
ubiquitin-dependent protein catabolic process
modification-dependent protein catabolic process
regulation of cellular protein localization
modification-dependent macromolecule catabolic process
proteolysis involved in cellular protein catabolic process
cellular protein catabolic process
protein catabolic process
protein ubiquitination
perinuclear region of cytoplasm