SMPD1 [The Human Chemical-Genetic Interaction Map Project]

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======= SMPD1 =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: SMPD1
  * **<color #00a2e8>Official Name</color>**: sphingomyelin phosphodiesterase 1
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=6609|6609]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/P17405|P17405]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=SMPD1&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20SMPD1|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/607608|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  The protein encoded by this gene is a lysosomal acid sphingomyelinase that converts sphingomyelin to ceramide. The encoded protein also has phospholipase C activity. Defects in this gene are a cause of Niemann-Pick disease type A (NPA) and Niemann-Pick disease type B (NPB). Multiple transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2010]. 
  * **<color #00a2e8>UniProt Summary</color>**:  Converts sphingomyelin to ceramide (PubMed:1840600, PubMed:18815062, PubMed:27659707, PubMed:25920558). Also has phospholipase C activities toward 1,2-diacylglycerolphosphocholine and 1,2-diacylglycerolphosphoglycerol. {ECO:0000269|PubMed:1840600, ECO:0000269|PubMed:18815062, ECO:0000269|PubMed:25920558, ECO:0000269|PubMed:27659707, ECO:0000305}. Isoform 3 lacks residues that bind the cofactor Zn(2+) and has no enzyme activity. {ECO:0000269|PubMed:1840600, ECO:0000305}.

<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'>
|Metallophos|
</modal>

<modal id='GO_terms' size='lg' title='GO Terms'>
|acid sphingomyelin phosphodiesterase activity|
|termination of signal transduction|
|hydrolase activity, acting on glycosyl bonds|
|sphingomyelin phosphodiesterase activity|
|sphingomyelin catabolic process|
|lamellar body|
|phosphoric diester hydrolase activity|
|sphingomyelin metabolic process|
|sphingolipid catabolic process|
|membrane lipid catabolic process|
|phospholipid catabolic process|
|positive regulation of protein dephosphorylation|
|ceramide biosynthetic process|
|response to cocaine|
|positive regulation of dephosphorylation|
|glycosphingolipid metabolic process|
|negative regulation of MAP kinase activity|
|response to anesthetic|
|ceramide metabolic process|
|sphingolipid biosynthetic process|
|lysosomal lumen|
|glycolipid metabolic process|
|liposaccharide metabolic process|
|response to alkaloid|
|cholesterol metabolic process|
|organophosphate catabolic process|
|secondary alcohol metabolic process|
|membrane lipid biosynthetic process|
|negative regulation of protein serine/threonine kinase activity|
|sterol metabolic process|
|regulation of protein dephosphorylation|
|sphingolipid metabolic process|
|negative regulation of MAPK cascade|
|response to ammonium ion|
|ammonium ion metabolic process|
|cellular lipid catabolic process|
|membrane lipid metabolic process|
|regulation of dephosphorylation|
|negative regulation of protein kinase activity|
|negative regulation of kinase activity|
|lysosome|
|steroid metabolic process|
|endosome|
|negative regulation of transferase activity|
|lipid catabolic process|
|response to xenobiotic stimulus|
|alcohol metabolic process|
|regulation of MAP kinase activity|
|phospholipid metabolic process|
|negative regulation of protein phosphorylation|
|negative regulation of phosphorylation|
|organic hydroxy compound metabolic process|
|negative regulation of intracellular signal transduction|
|regulation of protein serine/threonine kinase activity|
|amide biosynthetic process|
|negative regulation of phosphate metabolic process|
|negative regulation of phosphorus metabolic process|
|lipid biosynthetic process|
|negative regulation of protein modification process|
|positive regulation of apoptotic process|
|positive regulation of programmed cell death|
|positive regulation of cell death|
|regulation of MAPK cascade|
|cellular amide metabolic process|
|negative regulation of catalytic activity|
|regulation of protein kinase activity|
|zinc ion binding|
|regulation of kinase activity|
|organophosphate metabolic process|
|response to organic cyclic compound|
|cellular lipid metabolic process|
|regulation of transferase activity|
|response to organonitrogen compound|
|response to drug|
|carbohydrate derivative metabolic process|
|negative regulation of cellular protein metabolic process|
|organonitrogen compound catabolic process|
|response to nitrogen compound|
|negative regulation of protein metabolic process|
|positive regulation of phosphorus metabolic process|
|positive regulation of phosphate metabolic process|
|negative regulation of molecular function|
|lipid metabolic process|
|positive regulation of protein modification process|
|negative regulation of signal transduction|
|negative regulation of cell communication|
|negative regulation of signaling|
|organonitrogen compound biosynthetic process|
|regulation of protein phosphorylation|
|regulation of apoptotic process|
|response to oxygen-containing compound|
|regulation of programmed cell death|
|regulation of phosphorylation|
|extracellular space|
|positive regulation of cellular protein metabolic process|
|negative regulation of response to stimulus|
|cellular nitrogen compound biosynthetic process|
|regulation of cell death|
|positive regulation of protein metabolic process|
|small molecule metabolic process|
|organic substance catabolic process|
|regulation of phosphate metabolic process|
|regulation of phosphorus metabolic process|
|cellular catabolic process|
|regulation of intracellular signal transduction|
|regulation of protein modification 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:exp469|CFI-400945 25μM R08 exp469]]|-1.79|
</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>**: 6397
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: 0.47 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='SMPD1 Expression in NALM6 Cells: 0.47'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>