GALNS [The Human Chemical-Genetic Interaction Map Project]

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======= GALNS =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: GALNS
  * **<color #00a2e8>Official Name</color>**: galactosamine (N-acetyl)-6-sulfatase
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=2588|2588]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/P34059|P34059]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=GALNS&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20GALNS|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/612222|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  This gene encodes N-acetylgalactosamine-6-sulfatase which is a lysosomal exohydrolase required for the degradation of the glycosaminoglycans, keratan sulfate, and chondroitin 6-sulfate. Sequence alterations including point, missense and nonsense mutations, as well as those that affect splicing, result in a deficiency of this enzyme. Deficiencies of this enzyme lead to Morquio A syndrome, a lysosomal storage disorder. [provided by RefSeq, Jul 2008]. 
  * **<color #00a2e8>UniProt Summary</color>**: N/A

<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'>
|Phosphodiest|
|Sulfatase|
</modal>

<modal id='GO_terms' size='lg' title='GO Terms'>
|N-acetylgalactosamine-6-sulfatase activity|
|N-acetylgalactosamine-4-sulfatase activity|
|sulfuric ester hydrolase activity|
|keratan sulfate catabolic process|
|arylsulfatase activity|
|keratan sulfate metabolic process|
|sulfur compound catabolic process|
|glycosaminoglycan catabolic process|
|aminoglycan catabolic process|
|azurophil granule lumen|
|lysosomal lumen|
|mucopolysaccharide metabolic process|
|glycosaminoglycan metabolic process|
|aminoglycan metabolic process|
|carbohydrate derivative catabolic process|
|sulfur compound 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|
|myeloid leukocyte activation|
|leukocyte activation involved in immune response|
|cell activation involved in immune response|
|regulated exocytosis|
|leukocyte mediated immunity|
|exocytosis|
|leukocyte activation|
|oxoacid metabolic process|
|secretion by cell|
|organic acid metabolic process|
|carbohydrate derivative metabolic process|
|export from cell|
|macromolecule catabolic process|
|organonitrogen compound catabolic process|
|cell activation|
|immune effector process|
|secretion|
|small molecule metabolic process|
|organic substance catabolic process|
|cellular catabolic process|
|immune response|
|extracellular region|
|vesicle-mediated 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:exp535|Trimetrexate 0.03μM R08 exp535]]|1.94|
</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>**: 6377
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: 4.43 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='GALNS Expression in NALM6 Cells: 4.43'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>