HEXA [The Human Chemical-Genetic Interaction Map Project]

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======= HEXA =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: HEXA
  * **<color #00a2e8>Official Name</color>**: hexosaminidase subunit alpha
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=3073|3073]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/P06865|P06865]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=HEXA&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20HEXA|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/606869|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  This gene encodes a member of the glycosyl hydrolase 20 family of proteins. The encoded preproprotein is proteolytically processed to generate the alpha subunit of the lysosomal enzyme beta-hexosaminidase. This enzyme, together with the cofactor GM2 activator protein, catalyzes the degradation of the ganglioside GM2, and other molecules containing terminal N-acetyl hexosamines. Mutations in this gene lead to an accumulation of GM2 ganglioside in neurons, the underlying cause of neurodegenerative disorders termed the GM2 gangliosidoses, including Tay-Sachs disease (GM2-gangliosidosis type I). Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed. [provided by RefSeq, Jan 2016]. 
  * **<color #00a2e8>UniProt Summary</color>**:  Responsible for the degradation of GM2 gangliosides, and a variety of other molecules containing terminal N-acetyl hexosamines, in the brain and other tissues. The form B is active against certain oligosaccharides. The form S has no measurable activity.

<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'>
|Glyco hydro 20|
|Glyco hydro 20b|
</modal>

<modal id='GO_terms' size='lg' title='GO Terms'>
|N-acetyl-beta-D-galactosaminidase activity|
|beta-N-acetylhexosaminidase activity|
|azurophil granule|
|keratan sulfate catabolic process|
|chondroitin sulfate catabolic process|
|hyaluronan catabolic process|
|acetylglucosaminyltransferase activity|
|hyaluronan metabolic process|
|keratan sulfate metabolic process|
|chondroitin sulfate metabolic process|
|chondroitin sulfate proteoglycan metabolic process|
|sulfur compound catabolic process|
|glycosaminoglycan catabolic process|
|glycosphingolipid metabolic process|
|aminoglycan catabolic process|
|proteoglycan metabolic process|
|lysosomal lumen|
|glycosaminoglycan biosynthetic process|
|mucopolysaccharide metabolic process|
|aminoglycan biosynthetic process|
|glycolipid metabolic process|
|liposaccharide metabolic process|
|sphingolipid metabolic process|
|glycosaminoglycan metabolic process|
|aminoglycan metabolic process|
|carbohydrate derivative catabolic process|
|membrane lipid metabolic process|
|carboxylic acid catabolic process|
|organic acid catabolic process|
|sulfur compound metabolic process|
|glycoprotein metabolic process|
|small molecule catabolic process|
|carbohydrate metabolic process|
|protein heterodimerization activity|
|carbohydrate derivative biosynthetic process|
|carboxylic acid metabolic process|
|cellular lipid metabolic process|
|oxoacid metabolic process|
|organic acid metabolic process|
|carbohydrate derivative metabolic process|
|macromolecule catabolic process|
|organonitrogen compound catabolic process|
|lipid metabolic process|
|organonitrogen compound biosynthetic process|
|small molecule metabolic process|
|macromolecule biosynthetic process|
|organic substance catabolic process|
|cellular catabolic process|
|membrane|
</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:exp78|Pterostilbene 16μM R02 exp78]]|-1.93|
</modal>

<modal id='Most_Correlated_Genes' size='lg' title='Most Correlated Genes in Chemogenomics'>
^Gene^Correlation^
|[[:human genes:r:rrm1|RRM1]]|0.413|
</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>**: 12433
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: 6.59 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='HEXA Expression in NALM6 Cells: 6.59'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>