GALC [The Human Chemical-Genetic Interaction Map Project]

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======= GALC =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: GALC
  * **<color #00a2e8>Official Name</color>**: galactosylceramidase
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=2581|2581]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/P54803|P54803]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=GALC&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20GALC|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/606890|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  This gene encodes a lysosomal protein which hydrolyzes the galactose ester bonds of galactosylceramide, galactosylsphingosine, lactosylceramide, and monogalactosyldiglyceride. Mutations in this gene have been associated with Krabbe disease, also known as globoid cell leukodystrophy. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]. 
  * **<color #00a2e8>UniProt Summary</color>**:  Hydrolyzes the galactose ester bonds of galactosylceramide, galactosylsphingosine, lactosylceramide, and monogalactosyldiglyceride. Enzyme with very low activity responsible for the lysosomal catabolism of galactosylceramide, a major lipid in myelin, kidney and epithelial cells of small intestine and colon. {ECO:0000269|PubMed:8281145, ECO:0000269|PubMed:8399327}.

<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 59|
</modal>

<modal id='GO_terms' size='lg' title='GO Terms'>
|galactosylceramidase activity|
|galactosylceramide catabolic process|
|galactolipid catabolic process|
|glycosylceramide catabolic process|
|galactosylceramide metabolic process|
|galactolipid metabolic process|
|glycosphingolipid catabolic process|
|glycolipid catabolic process|
|glycosylceramide metabolic process|
|ceramide catabolic process|
|sphingolipid catabolic process|
|membrane lipid catabolic process|
|glycosphingolipid metabolic process|
|ceramide metabolic process|
|lysosomal lumen|
|myelination|
|ensheathment of neurons|
|axon ensheathment|
|glycolipid metabolic process|
|liposaccharide metabolic process|
|sphingolipid metabolic process|
|carbohydrate derivative catabolic process|
|cellular lipid catabolic process|
|membrane lipid metabolic process|
|lysosome|
|lipid catabolic process|
|cellular amide metabolic process|
|cellular lipid metabolic process|
|carbohydrate derivative metabolic process|
|organonitrogen compound catabolic process|
|lipid metabolic process|
|organic substance catabolic process|
|cellular catabolic process|
</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:exp190|Vincristine 0.0005μM R04 exp190]]|-1.73|
|[[:results:exp346|CoCl2 18μM R07 exp346]]|1.7|
|[[:results:exp165|RO-3306 3 to 4μM on day4 R04 exp165]]|1.85|
|[[:results:exp162|BI-D1870 2μM R04 exp162]]|1.98|
</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>**: 14930
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: 2.49 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='GALC Expression in NALM6 Cells: 2.49'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>