QuickView for SMPD1 (gene)
- Gene Symbol:
- SMPD1
Homo sapiens - Full name:
- sphingomyelin phosphodiesterase 1
- Synonyms:
- ASM, ASMASE, NPD, sphingomyelin phosphodiesterase, acid sphingomyelinase, sphingomyelin phosphodiesterase 1, acid lysosomal
- Genomic Location:
- Chr 11: 6368231-6372802
- Description:
-
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 identifi...
- Orthologs:
- Mus musculus , Rattus norvegicus , D. melanogaster , C. elegans , Macaca mulatta , Gallus gallus , Pan troglodytes , Canis lupus familiaris , Bos taurus , Danio rerio
- External Links:
- Entrez Gene
- Transcription Factor
Binding Sites:
- Cytogenetic Map:
-
11p15.4
GO Molecular Function
acid sphingomyelin phosphodiesterase activity | cation binding | phospholipase activity | hydrolase activity | catalytic activity | hydrolase activity, acting on ester bonds | hydrolase activity, acting on glycosyl bonds | ion binding | lipase activity | protein binding | sphingomyelin phosphodiesterase activity | zinc ion binding | phosphoric diester hydrolase activity | phosphoric ester hydrolase activity | transition metal ion binding | metal ion binding
GO Biological Process
negative regulation of phosphorylation | regulation of dephosphorylation | negative regulation of MAPK cascade | glycosphingolipid metabolic process | positive regulation of apoptotic process | regulation of programmed cell death | negative regulation of cellular process | negative regulation of kinase activity | regulation of MAP kinase activity | nervous system development | response to drug | organophosphate catabolic process | negative regulation of protein phosphorylation | positive regulation of phosphate metabolic process | phospholipid metabolic process | positive regulation of dephosphorylation | cellular process | organic substance catabolic process | negative regulation of signaling | sphingolipid metabolic process | positive regulation of nitrogen compound metabolic process | negative regulation of cellular metabolic process | regulation of cellular process | regulation of apoptotic process | regulation of metabolic process | catabolic process | positive regulation of cellular protein metabolic process | cellular lipid metabolic process | response to stimulus | positive regulation of protein metabolic process | response to cocaine | negative regulation of protein kinase activity | cellular nitrogen compound biosynthetic process | ceramide metabolic process | sphingolipid biosynthetic process | cellular nitrogen compound metabolic process | negative regulation of metabolic process | cellular biosynthetic process | positive regulation of protein dephosphorylation | response to nitrogen compound | system development | nitrogen compound metabolic process | regulation of signal transduction | negative regulation of phosphate metabolic process | multicellular organism development | negative regulation of catalytic activity | regulation of MAPK cascade | phosphorus metabolic process | regulation of catalytic activity | regulation of protein serine/threonine kinase activity | lipid metabolic process | regulation of phosphorylation | organophosphate metabolic process | positive regulation of cellular metabolic process | response to ammonium ion | regulation of nitrogen compound metabolic process | negative regulation of protein serine/threonine kinase activity | cellular amide metabolic process | phospholipid catabolic process | glycolipid metabolic process | biosynthetic process | regulation of cellular protein metabolic process | lipid biosynthetic process | membrane lipid catabolic process | response to xenobiotic stimulus | phosphate-containing compound metabolic process | cell communication | regulation of cellular metabolic process | regulation of protein kinase activity | sphingomyelin catabolic process | cellular lipid catabolic process | sphingomyelin metabolic process | regulation of protein metabolic process | regulation of protein phosphorylation | negative regulation of MAP kinase activity | positive regulation of protein modification process | response to organic substance | regulation of protein dephosphorylation | regulation of kinase activity | regulation of intracellular signal transduction | negative regulation of intracellular signal transduction | anatomical structure development | metabolic process | membrane lipid metabolic process | positive regulation of cell death | lipid catabolic process | organic substance metabolic process | negative regulation of cellular protein metabolic process | amide biosynthetic process | positive regulation of programmed cell death | regulation of phosphate metabolic process | response to alkaloid | negative regulation of protein metabolic process | organonitrogen compound catabolic process | regulation of cell communication | negative regulation of molecular function | negative regulation of signal transduction | signaling | response to organic cyclic compound | developmental process | carbohydrate derivative metabolic process | response to organonitrogen compound | sphingolipid catabolic process | response to anesthetic | positive regulation of metabolic process | cellular metabolic process | regulation of cell death | ceramide biosynthetic process | termination of signal transduction | signal transduction | regulation of signaling | multicellular organismal process | regulation of phosphorus metabolic process
GO Cellular Component
secretory granule | intracellular membrane-bounded organelle | cytoplasmic vesicle | cell | vacuolar lumen | cytoplasm | intracellular organelle | secretory vesicle | endomembrane system | plasma membrane | vacuole | vesicle | extracellular exosome | lytic vacuole | endosome | extracellular region | membrane-bounded organelle | extracellular vesicle | organelle | lysosome | extracellular space | cell periphery | membrane-enclosed lumen | lysosomal lumen | lamellar body | intracellular vesicle | intracellular | membrane
