SMCR8 [The Human Chemical-Genetic Interaction Map Project]

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======= SMCR8 =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: SMCR8
  * **<color #00a2e8>Official Name</color>**: SMCR8-C9orf72 complex subunit
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=140775|140775]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/Q8TEV9|Q8TEV9]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=SMCR8&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20SMCR8|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/617074|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**: N/A
  * **<color #00a2e8>UniProt Summary</color>**:  Component of the C9orf72-SMCR8 complex, a complex that has guanine nucleotide exchange factor (GEF) activity and regulates autophagy (PubMed:20562859, PubMed:27193190, PubMed:27103069, PubMed:27559131, PubMed:27617292, PubMed:28195531). In the complex, C9orf72 and SMCR8 probably constitute the catalytic subunits that promote the exchange of GDP to GTP, converting inactive GDP-bound RAB8A and RAB39B into their active GTP-bound form, thereby promoting autophagosome maturation (PubMed:20562859, PubMed:27103069, PubMed:27617292, PubMed:28195531). The C9orf72-SMCR8 complex also acts as a negative regulator of autophagy initiation by interacting with the ATG1/ULK1 kinase complex and inhibiting its protein kinase activity (PubMed:27617292, PubMed:28195531). Acts as a regulator of mTORC1 signaling by promoting phosphorylation of mTORC1 substrates (PubMed:27559131, PubMed:28195531). In addition to its activity in the cytoplasm within the C9orf72-SMCR8 complex, SMCR8 also localizes in the nucleus, where it associates with chromatin and negatively regulates expression of suppresses ULK1 and WIPI2 genes (PubMed:28195531). {ECO:0000269|PubMed:20562859, ECO:0000269|PubMed:27103069, ECO:0000269|PubMed:27193190, ECO:0000269|PubMed:27559131, ECO:0000269|PubMed:27617292, ECO:0000269|PubMed:28195531}.

<button type='primary' 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'>
|Folliculin|
</modal>

<modal id='GO_terms' size='lg' title='GO Terms'>
|positive regulation of autophagosome maturation|
|Atg1/ULK1 kinase complex|
|regulation of autophagosome maturation|
|guanyl-nucleotide exchange factor complex|
|negative regulation of autophagosome assembly|
|protein kinase inhibitor activity|
|negative regulation of macroautophagy|
|regulation of autophagosome assembly|
|positive regulation of protein complex disassembly|
|Rab guanyl-nucleotide exchange factor activity|
|negative regulation of organelle assembly|
|positive regulation of TOR signaling|
|regulation of TORC1 signaling|
|regulation of vacuole organization|
|positive regulation of macroautophagy|
|negative regulation of autophagy|
|regulation of TOR signaling|
|regulation of protein complex disassembly|
|chromatin|
|positive regulation of autophagy|
|regulation of macroautophagy|
|regulation of organelle assembly|
|negative regulation of protein kinase activity|
|negative regulation of kinase activity|
|negative regulation of cellular catabolic process|
|autophagy|
|process utilizing autophagic mechanism|
|negative regulation of transferase activity|
|negative regulation of catabolic process|
|regulation of autophagy|
|positive regulation of cellular catabolic process|
|negative regulation of organelle organization|
|negative regulation of protein phosphorylation|
|positive regulation of catabolic process|
|negative regulation of phosphorylation|
|protein kinase binding|
|negative regulation of phosphate metabolic process|
|negative regulation of phosphorus metabolic process|
|negative regulation of protein modification process|
|positive regulation of organelle organization|
|negative regulation of cellular component organization|
|negative regulation of catalytic activity|
|regulation of protein kinase activity|
|regulation of cellular catabolic process|
|regulation of kinase activity|
|regulation of cellular component biogenesis|
|regulation of transferase activity|
|regulation of catabolic process|
|positive regulation of intracellular signal transduction|
|negative regulation of cellular protein metabolic process|
|negative regulation of protein metabolic process|
|negative regulation of molecular function|
|positive regulation of cellular component organization|
|regulation of organelle organization|
|regulation of protein phosphorylation|
|regulation of phosphorylation|
|positive regulation of signal transduction|
|negative regulation of gene expression|
|regulation of phosphate metabolic process|
|regulation of phosphorus metabolic process|
|cellular catabolic process|
|positive regulation of cell communication|
|positive regulation of signaling|
|regulation of intracellular signal transduction|
|regulation of protein modification process|
</modal>
\\

 === CRISPR Data ===
<button type='default' 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'>
No hits were found.
</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>**: 12610
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: 6.08 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='SMCR8 Expression in NALM6 Cells: 6.08'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>