======= NHLRC1 =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: NHLRC1
  * **<color #00a2e8>Official Name</color>**: NHL repeat containing E3 ubiquitin protein ligase 1
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=378884|378884]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/Q6VVB1|Q6VVB1]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=NHLRC1&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20NHLRC1|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/608072|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  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]. 
  * **<color #00a2e8>UniProt Summary</color>**:  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}.

<button type='default' size='sm' modal='Pfam_Domains'>Pfam Domains</button>
<button type='primary' size='sm' modal='GO_terms'>GO Terms</button>


<modal id='Pfam_Domains' size='lg' title='Pfam Domains'>
No Pfam Domain information is available for this gene.
</modal>

<modal id='GO_terms' size='lg' title='GO Terms'>
|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|
|protein modification by small protein conjugation|
|regulation of protein kinase activity|
|regulation of kinase activity|
|cellular macromolecule catabolic process|
|regulation of cellular localization|
|oxidation-reduction process|
|regulation of transferase activity|
|protein modification by small protein conjugation or removal|
|endoplasmic reticulum|
|regulation of protein localization|
|macromolecule catabolic process|
|organonitrogen compound catabolic process|
|positive regulation of protein modification process|
|proteolysis|
|regulation of protein phosphorylation|
|regulation of phosphorylation|
|positive regulation of cellular protein metabolic process|
|cellular response to stress|
|positive regulation of protein metabolic process|
|cellular macromolecule biosynthetic process|
|macromolecule biosynthetic process|
|organic substance catabolic process|
|regulation of phosphate metabolic process|
|regulation of phosphorus metabolic process|
|cellular catabolic process|
|regulation of protein modification process|
</modal>
\\

 === CRISPR Data ===
<button type='primary' size='small' modal='Compound_Hit'>Compound Hit</button>
<button type='default' size='small' modal='Most_Correlated_Genes'>Most Correlated Genes in Chemogenomics</button>
<button type='primary' size='small' modal='Essential_Avana'>Tissues where Essential in the Avana Dataset (DepMap 20Q1)</button>

<modal id='Compound_Hit' size='lg' title='Compound Hit'>
^Screen^Score^
|[[:results:exp10|CCCP 0.1μM R00 exp10]]|1.73|
|[[:results:exp25|Oligomycin-A 2μM R00 exp25]]|2.08|
</modal>

<modal id='Most_Correlated_Genes' size='lg' title='Most Correlated Genes in Chemogenomics'>
No correlation found to any other genes in chemogenomics.
</modal>

<modal id='Essential_Avana' size='lg' title='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|
</modal>

== Essentiality in NALM6  ==
    * **<color #00a2e8>Essentiality Rank</color>**: 9115
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: -7.68 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='NHLRC1 Expression in NALM6 Cells: -7.68'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>