======= ASAH1 =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: ASAH1
  * **<color #00a2e8>Official Name</color>**: N-acylsphingosine amidohydrolase 1
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=427|427]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/Q13510|Q13510]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=ASAH1&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20ASAH1|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/613468|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  This gene encodes a member of the acid ceramidase family of proteins. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed. Processing of this preproprotein generates alpha and beta subunits that heterodimerize to form the mature lysosomal enzyme, which catalyzes the degradation of ceramide into sphingosine and free fatty acid. This enzyme is overexpressed in multiple human cancers and may play a role in cancer progression. Mutations in this gene are associated with the lysosomal storage disorder, Farber lipogranulomatosis, and a neuromuscular disorder, spinal muscular atrophy with progressive myoclonic epilepsy. [provided by RefSeq, Oct 2015]. 
  * **<color #00a2e8>UniProt Summary</color>**:  Hydrolyzes the sphingolipid ceramide into sphingosine and free fatty acid. {ECO:0000269|PubMed:7744740}.

<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'>
|CBAH|
</modal>

<modal id='GO_terms' size='lg' title='GO Terms'>
|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds|
|ceramidase activity|
|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|
|N-acylsphingosine amidohydrolase activity|
|sphingosine biosynthetic process|
|sphingoid biosynthetic process|
|sphingosine metabolic process|
|sphingoid metabolic process|
|diol biosynthetic process|
|ceramide catabolic process|
|regulation of programmed necrotic cell death|
|diol metabolic process|
|regulation of necrotic cell death|
|sphingolipid catabolic process|
|membrane lipid catabolic process|
|ceramide biosynthetic process|
|tertiary granule lumen|
|polyol biosynthetic process|
|glycosphingolipid metabolic process|
|ceramide metabolic process|
|regulation of steroid biosynthetic process|
|sphingolipid biosynthetic process|
|lysosomal lumen|
|glycolipid metabolic process|
|liposaccharide metabolic process|
|polyol metabolic process|
|alcohol biosynthetic process|
|regulation of steroid metabolic process|
|ficolin-1-rich granule lumen|
|membrane lipid biosynthetic process|
|sphingolipid metabolic process|
|organic hydroxy compound biosynthetic process|
|regulation of lipid biosynthetic process|
|ammonium ion metabolic process|
|cellular lipid catabolic process|
|membrane lipid metabolic process|
|cellular response to tumor necrosis factor|
|lysosome|
|early endosome|
|response to tumor necrosis factor|
|keratinocyte differentiation|
|lipid catabolic process|
|epidermal cell differentiation|
|alcohol metabolic process|
|skin development|
|regulation of lipid metabolic process|
|epidermis development|
|organic hydroxy 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|
|amide biosynthetic process|
|lipid biosynthetic process|
|myeloid leukocyte activation|
|small molecule biosynthetic process|
|leukocyte activation involved in immune response|
|cell activation involved in immune response|
|epithelial cell differentiation|
|regulated exocytosis|
|leukocyte mediated immunity|
|cellular amide metabolic process|
|exocytosis|
|leukocyte activation|
|cellular lipid metabolic process|
|secretion by cell|
|cellular response to cytokine stimulus|
|endoplasmic reticulum|
|carbohydrate derivative metabolic process|
|export from cell|
|organonitrogen compound catabolic process|
|cell activation|
|immune effector process|
|response to cytokine|
|epithelium development|
|secretion|
|lipid metabolic process|
|organonitrogen compound biosynthetic process|
|regulation of programmed cell death|
|extracellular space|
|cellular nitrogen compound biosynthetic process|
|regulation of cell death|
|small molecule metabolic process|
|tissue development|
|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:exp336|Asunaprenir 3μM R07 exp336]]|-1.83|
|[[:results:exp447|Amiloride 100μM R08 exp447]]|1.79|
|[[:results:exp108|Vinblastine 0.2μM R03 exp108]]|2.1|
</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>**: 18760
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: 5.58 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='ASAH1 Expression in NALM6 Cells: 5.58'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>