SMPD1

Entrez Summary: 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].
UniProt Summary: 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}.

Pfam Domains GO Terms

Compound Hit Most Correlated Genes in Chemogenomics 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

Expression Distribution

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