ASPSCR1 [The Human Chemical-Genetic Interaction Map Project]

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======= ASPSCR1 =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: ASPSCR1
  * **<color #00a2e8>Official Name</color>**: ASPSCR1 tether for SLC2A4, UBX domain containing
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=79058|79058]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/Q9BZE9|Q9BZE9]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=ASPSCR1&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20ASPSCR1|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/606236|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  The protein encoded by this gene contains a UBX domain and interacts with glucose transporter type 4 (GLUT4). This protein is a tether, which sequesters the GLUT4 in intracellular vesicles in muscle and fat cells in the absence of insulin, and redistributes the GLUT4 to the plasma membrane within minutes of insulin stimulation. Translocation t(X;17)(p11;q25) of this gene with transcription factor TFE3 gene results in a ASPSCR1-TFE3 fusion protein in alveolar soft part sarcoma and in renal cell carcinomas. Multiple alternatively spliced transcript variants have been found. [provided by RefSeq, Oct 2011]. 
  * **<color #00a2e8>UniProt Summary</color>**:  Tethering protein that sequesters GLUT4-containing vesicles in the cytoplasm in the absence of insulin. Modulates the amount of GLUT4 that is available at the cell surface (By similarity). Enhances VCP methylation catalyzed by VCPKMT. {ECO:0000250, ECO:0000269|PubMed:23349634}.

<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'>
|UBX|
|TUG|
</modal>

<modal id='GO_terms' size='lg' title='GO Terms'>
|vesicle membrane|
|cytoplasmic side of plasma membrane|
|regulation of glucose import|
|extrinsic component of membrane|
|endoplasmic reticulum-Golgi intermediate compartment membrane|
|regulation of glucose transmembrane transport|
|endomembrane system|
|glucose homeostasis|
|carbohydrate homeostasis|
|regulation of transmembrane transport|
|intracellular membrane-bounded organelle|
|perinuclear region of cytoplasm|
|intracellular protein transport|
|chemical homeostasis|
|positive regulation of protein modification process|
|protein transport|
|intracellular transport|
|peptide transport|
|amide transport|
|cellular protein localization|
|cellular macromolecule localization|
|positive regulation of cellular protein metabolic process|
|establishment of protein localization|
|homeostatic process|
|positive regulation of protein metabolic process|
|establishment of localization in cell|
|regulation of protein modification process|
|nitrogen compound transport|
|regulation of transport|
</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:exp468|CB-5083 0.4μM R08 exp468]]|-2.57|
</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>**: 4556
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: 4.31 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='ASPSCR1 Expression in NALM6 Cells: 4.31'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>