EFR3A [The Human Chemical-Genetic Interaction Map Project]

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======= EFR3A =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: EFR3A
  * **<color #00a2e8>Official Name</color>**: EFR3 homolog A
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=23167|23167]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/Q14156|Q14156]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=EFR3A&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20EFR3A|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/611798|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  The protein encoded by this gene is part of a complex that plays a role in maintaining an active pool of phosphatidylinositol 4-kinase (PI4K) at the plasma membrane. This protein is thought to be a peripheral membrane protein that associates with the plasma membrane through palmitoylation. Studies indicate that this gene product plays a role in controlling G protein-coupled receptor (GPCR) activity by affecting receptor phosphorylation. Whole exome sequencing studies have implicated mutations in this gene with autism spectrum disorders. [provided by RefSeq, Apr 2016]. 
  * **<color #00a2e8>UniProt Summary</color>**:  Component of a complex required to localize phosphatidylinositol 4-kinase (PI4K) to the plasma membrane (PubMed:23229899, PubMed:25608530, PubMed:26571211). The complex acts as a regulator of phosphatidylinositol 4-phosphate (PtdIns(4)P) synthesis (Probable). In the complex, EFR3A probably acts as the membrane-anchoring component (PubMed:23229899). Also involved in responsiveness to G-protein-coupled receptors; it is however unclear whether this role is direct or indirect (PubMed:25380825). {ECO:0000269|PubMed:23229899, ECO:0000269|PubMed:25380825, ECO:0000269|PubMed:25608530, ECO:0000305}.

<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'>
|phosphatidylinositol phosphorylation|
|lipid phosphorylation|
|phosphatidylinositol metabolic process|
|protein localization to plasma membrane|
|lipid modification|
|protein localization to cell periphery|
|glycerophospholipid metabolic process|
|phospholipid metabolic process|
|glycerolipid metabolic process|
|protein localization to membrane|
|organophosphate metabolic process|
|cellular lipid metabolic process|
|lipid metabolic process|
|phosphorylation|
|cellular protein localization|
|cellular macromolecule localization|
</modal>
\\

 === CRISPR Data ===
<button type='primary' size='small' modal='Compound_Hit'>Compound Hit</button>
<button type='primary' 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:exp134|MS023 2μM R03 exp134]]|-2.11|
|[[:results:exp60|Vinblastine 0.002μM R01 exp60]]|-1.83|
|[[:results:exp149|SB203580 25μM R03 exp149]]|2.2|
</modal>

<modal id='Most_Correlated_Genes' size='lg' title='Most Correlated Genes in Chemogenomics'>
^Gene^Correlation^
|[[:human genes:t:ttc7a|TTC7A]]|0.475|
|[[:human genes:h:hars|HARS]]|0.415|
</modal>

<modal id='Essential_Avana' size='lg' title='Tissues where Essential in the Avana Dataset (DepMap 20Q1)'>
Global Fraction of Cell Lines Where Essential: 44/739
^Tissue^Fraction Of Cell Lines Where Essential^
|1290807.0|0/1|
|909776.0|0/1|
|bile duct|3/28|
|blood|0/28|
|bone|0/26|
|breast|1/33|
|central nervous system|2/56|
|cervix|0/4|
|colorectal|2/17|
|esophagus|0/13|
|fibroblast|0/1|
|gastric|1/16|
|kidney|1/21|
|liver|1/20|
|lung|2/75|
|lymphocyte|1/16|
|ovary|4/26|
|pancreas|4/24|
|peripheral nervous system|0/16|
|plasma cell|4/15|
|prostate|0/1|
|skin|0/24|
|soft tissue|0/9|
|thyroid|0/2|
|upper aerodigestive|4/22|
|urinary tract|2/29|
|uterus|2/5|
</modal>

== Essentiality in NALM6  ==
    * **<color #00a2e8>Essentiality Rank</color>**: 1909
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: 5.4 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='EFR3A Expression in NALM6 Cells: 5.4'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>