sphingomyelin phosphodiesterase 1, acid lysosomal
Symbol
SMPD1
(may also be known as: None)
Organism
Human
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 identified. [provided by RefSeq, Jul 2010]
Orthologs
| Symbol | Species | |
|---|---|---|
| asm-2 | Caenorhabditis elegans | |
| CG3376 | Drosophila melanogaster | |
| smpd1 | Danio rerio | |
| Smpd1 | Mus musculus | |
| Smpd1 | Rattus norvegicus |
Links to external resources
Changes associated with this gene
GO Terms
| GO ID | GO Term | GO Category | |
|---|---|---|---|
| GO:0006665 | sphingolipid metabolic process | biological_process | |
| GO:0006684 | sphingomyelin metabolic process | biological_process | |
| GO:0006685 | sphingomyelin catabolic process | biological_process | |
| GO:0006687 | glycosphingolipid metabolic process | biological_process | |
| GO:0007165 | signal transduction | biological_process | |
| GO:0007399 | nervous system development | biological_process | |
| GO:0008219 | cell death | biological_process | |
| GO:0023021 | termination of signal transduction | biological_process | |
| GO:0035307 | positive regulation of protein dephosphorylation | biological_process | |
| GO:0042220 | response to cocaine | biological_process | |
| GO:0042493 | response to drug | biological_process | |
| GO:0043065 | positive regulation of apoptotic process | biological_process | |
| GO:0043407 | negative regulation of MAP kinase activity | biological_process | |
| GO:0044281 | small molecule metabolic process | biological_process | |
| GO:0046513 | ceramide biosynthetic process | biological_process | |
| GO:0005615 | extracellular space | cellular_component | |
| GO:0042599 | lamellar body | cellular_component | |
| GO:0043202 | lysosomal lumen | cellular_component | |
| GO:0004767 | sphingomyelin phosphodiesterase activity | molecular_function | |
| GO:0016787 | hydrolase activity | molecular_function | |
| GO:0016798 | hydrolase activity, acting on glycosyl bonds | molecular_function | |