GAA [The Human Chemical-Genetic Interaction Map Project]

This page is read only. You can view the source, but not change it. Ask your administrator if you think this is wrong.
======= GAA =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: GAA
  * **<color #00a2e8>Official Name</color>**: glucosidase alpha, acid
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=2548|2548]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/P10253|P10253]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=GAA&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20GAA|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/606800|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  This gene encodes lysosomal alpha-glucosidase, which is essential for the degradation of glycogen to glucose in lysosomes. The encoded preproprotein is proteolytically processed to generate multiple intermediate forms and the mature form of the enzyme. Defects in this gene are the cause of glycogen storage disease II, also known as Pompe's disease, which is an autosomal recessive disorder with a broad clinical spectrum. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]. 
  * **<color #00a2e8>UniProt Summary</color>**:  Essential for the degradation of glycogen in lysosomes (PubMed:1856189, PubMed:7717400, PubMed:14695532, PubMed:18429042). Has highest activity on alpha-1,4-linked glycosidic linkages, but can also hydrolyze alpha-1,6-linked glucans (PubMed:29061980). {ECO:0000269|PubMed:14695532, ECO:0000269|PubMed:18429042, ECO:0000269|PubMed:1856189, ECO:0000269|PubMed:29061980, ECO:0000269|PubMed:7717400}.

<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'>
|Trefoil|
|Glyco hydro 31|
</modal>

<modal id='GO_terms' size='lg' title='GO Terms'>
|vacuolar sequestering|
|diaphragm contraction|
|alpha-1,4-glucosidase activity|
|maltose metabolic process|
|maltose alpha-glucosidase activity|
|involuntary skeletal muscle contraction|
|sucrose metabolic process|
|disaccharide metabolic process|
|respiratory system process|
|glycogen catabolic process|
|neuromuscular process controlling posture|
|glucan catabolic process|
|cellular polysaccharide catabolic process|
|muscle cell cellular homeostasis|
|polysaccharide catabolic process|
|regulation of the force of heart contraction|
|skeletal muscle contraction|
|cellular carbohydrate catabolic process|
|respiratory gaseous exchange by respiratory system|
|musculoskeletal movement|
|multicellular organismal movement|
|oligosaccharide metabolic process|
|glycogen metabolic process|
|cellular glucan metabolic process|
|glucan metabolic process|
|neuromuscular process controlling balance|
|azurophil granule membrane|
|lysosome organization|
|lytic vacuole organization|
|ficolin-1-rich granule membrane|
|energy reserve metabolic process|
|tertiary granule membrane|
|cellular polysaccharide metabolic process|
|cardiac muscle contraction|
|polysaccharide metabolic process|
|heart contraction|
|lysosomal lumen|
|maintenance of location in cell|
|heart process|
|neuromuscular process|
|striated muscle contraction|
|glucose metabolic process|
|carbohydrate catabolic process|
|vacuole organization|
|hexose metabolic process|
|maintenance of location|
|cellular carbohydrate metabolic process|
|carbohydrate binding|
|locomotory behavior|
|monosaccharide metabolic process|
|energy derivation by oxidation of organic compounds|
|regulation of heart contraction|
|heart morphogenesis|
|muscle contraction|
|lysosome|
|regulation of blood circulation|
|muscle system process|
|lysosomal membrane|
|anatomical structure homeostasis|
|blood circulation|
|circulatory system process|
|generation of precursor metabolites and energy|
|carbohydrate metabolic process|
|neutrophil degranulation|
|neutrophil activation involved in immune response|
|neutrophil mediated immunity|
|neutrophil activation|
|granulocyte activation|
|leukocyte degranulation|
|myeloid leukocyte mediated immunity|
|myeloid cell activation involved in immune response|
|heart development|
|behavior|
|myeloid leukocyte activation|
|regulation of system process|
|leukocyte activation involved in immune response|
|cell activation involved in immune response|
|regulated exocytosis|
|leukocyte mediated immunity|
|exocytosis|
|circulatory system development|
|cellular homeostasis|
|leukocyte activation|
|animal organ morphogenesis|
|oxidation-reduction process|
|secretion by cell|
|export from cell|
|macromolecule catabolic process|
|cell activation|
|immune effector process|
|secretion|
|nervous system process|
|homeostatic process|
|small molecule metabolic process|
|tissue development|
|organic substance catabolic process|
|cellular catabolic process|
|immune response|
|vesicle-mediated transport|
|system process|
|membrane|
</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:exp484|GSK-J5 1.5μM R08 exp484]]|1.81|
</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>**: 13160
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: 5.33 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='GAA Expression in NALM6 Cells: 5.33'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>