ACTN3 [The Human Chemical-Genetic Interaction Map Project]

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======= ACTN3 =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: ACTN3
  * **<color #00a2e8>Official Name</color>**: actinin alpha 3 (gene/pseudogene)
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=89|89]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/Q08043|Q08043]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=ACTN3&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20ACTN3|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/102574|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  This gene encodes a member of the alpha-actin binding protein gene family. The encoded protein is primarily expressed in skeletal muscle and functions as a structural component of sarcomeric Z line. This protein is involved in crosslinking actin containing thin filaments. An allelic polymorphism in this gene results in both coding and non-coding variants; the reference genome represents the coding allele. The non-functional allele of this gene is associated with elite athlete status. [provided by RefSeq, Feb 2014]. 
  * **<color #00a2e8>UniProt Summary</color>**:  F-actin cross-linking protein which is thought to anchor actin to a variety of intracellular structures. This is a bundling protein.

<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'>
|CH|
|CAMSAP CH|
|efhand Ca insen|
|Spectrin|
</modal>

<modal id='GO_terms' size='lg' title='GO Terms'>
|positive regulation of glucose catabolic process to lactate via pyruvate|
|positive regulation of NAD metabolic process|
|regulation of the force of skeletal muscle contraction|
|regulation of skeletal muscle contraction by chemo-mechanical energy conversion|
|positive regulation of skeletal muscle tissue growth|
|regulation of glucose catabolic process to lactate via pyruvate|
|regulation of NAD metabolic process|
|regulation of fermentation|
|regulation of skeletal muscle tissue growth|
|negative regulation of oxidative phosphorylation|
|skeletal muscle atrophy|
|striated muscle atrophy|
|transition between fast and slow fiber|
|regulation of aerobic respiration|
|muscle atrophy|
|response to muscle inactivity involved in regulation of muscle adaptation|
|response to denervation involved in regulation of muscle adaptation|
|response to muscle inactivity|
|skeletal muscle adaptation|
|regulation of skeletal muscle contraction|
|negative regulation of glycolytic process|
|negative regulation of calcineurin-mediated signaling|
|response to inactivity|
|negative regulation of calcineurin-NFAT signaling cascade|
|response to stimulus involved in regulation of muscle adaptation|
|regulation of skeletal muscle adaptation|
|pseudopodium|
|negative regulation of purine nucleotide metabolic process|
|negative regulation of nucleotide metabolic process|
|negative regulation of ATP metabolic process|
|positive regulation of skeletal muscle tissue development|
|cell-substrate adherens junction assembly|
|striated muscle adaptation|
|focal adhesion assembly|
|negative regulation of calcium-mediated signaling|
|regulation of cellular respiration|
|regulation of oxidative phosphorylation|
|muscle adaptation|
|regulation of calcineurin-mediated signaling|
|regulation of calcineurin-NFAT signaling cascade|
|adherens junction assembly|
|positive regulation of glucose metabolic process|
|muscle filament sliding|
|actin-myosin filament sliding|
|negative regulation of cellular carbohydrate metabolic process|
|cell-substrate junction assembly|
|positive regulation of ATP metabolic process|
|structural constituent of muscle|
|negative regulation of cold-induced thermogenesis|
|negative regulation of carbohydrate metabolic process|
|regulation of skeletal muscle tissue development|
|positive regulation of cellular carbohydrate metabolic process|
|positive regulation of striated muscle tissue development|
|positive regulation of muscle organ development|
|positive regulation of muscle tissue development|
|positive regulation of carbohydrate metabolic process|
|regulation of glycolytic process|
|actin filament|
|adherens junction organization|
|regulation of muscle adaptation|
|regulation of carbohydrate catabolic process|
|actin-mediated cell contraction|
|negative regulation of small molecule metabolic process|
|regulation of striated muscle contraction|
|regulation of calcium-mediated signaling|
|actin filament-based movement|
|regulation of glucose metabolic process|
|regulation of purine nucleotide metabolic process|
|regulation of nucleotide metabolic process|
|regulation of ATP metabolic process|
|ion channel binding|
|cell-matrix adhesion|
|integrin binding|
|regulation of striated muscle tissue development|
|regulation of muscle tissue development|
|regulation of muscle organ development|
|positive regulation of small molecule metabolic process|
|regulation of cellular carbohydrate metabolic process|
|regulation of cold-induced thermogenesis|
|regulation of generation of precursor metabolites and energy|
|regulation of muscle contraction|
|cell junction assembly|
|positive regulation of developmental growth|
|cell-substrate adhesion|
|regulation of carbohydrate metabolic process|
|cell junction organization|
|regulation of muscle system process|
|muscle contraction|
|positive regulation of growth|
|actin binding|
|muscle system process|
|negative regulation of catabolic process|
|regulation of developmental growth|
|focal adhesion|
|regulation of small molecule metabolic process|
|positive regulation of catabolic process|
|negative regulation of phosphorylation|
|negative regulation of intracellular signal transduction|
|negative regulation of phosphate metabolic process|
|negative regulation of phosphorus metabolic process|
|actin filament-based process|
|regulation of system process|
|regulation of growth|
|calcium ion binding|
|protein homodimerization activity|
|cell adhesion|
|biological adhesion|
|regulation of catabolic process|
|negative regulation of multicellular organismal process|
|negative regulation of signal transduction|
|negative regulation of cell communication|
|negative regulation of signaling|
|positive regulation of developmental process|
|negative regulation of nucleobase-containing compound metabolic process|
|regulation of apoptotic process|
|movement of cell or subcellular component|
|regulation of programmed cell death|
|regulation of phosphorylation|
|negative regulation of response to stimulus|
|regulation of cell death|
|positive regulation of multicellular organismal process|
|regulation of phosphate metabolic process|
|regulation of phosphorus metabolic process|
|regulation of intracellular signal transduction|
|system 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: N/A
^Tissue^Fraction Of Cell Lines Where Essential^
</modal>

== Essentiality in NALM6  ==
    * **<color #00a2e8>Essentiality Rank</color>**: 15215
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: -0.26 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='ACTN3 Expression in NALM6 Cells: -0.26'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>