Sequence in raw or FASTA format:
SMPD1 sphingomyelin phosphodiesterase 1, acid lysosomal [Homo sapiens (human)]
| Gene Symbol | SMPD1 |
| Entrez Gene ID | 6609 |
| Full Name | sphingomyelin phosphodiesterase 1, acid lysosomal |
| Synonyms | ASM, ASMASE, NPD |
| Gene Type | protein-coding |
| Organism | Homo sapiens (human) |
| Genome |
11 11p15.4-p15.1 |
| 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]. |
| Disorder | MIM: 607608 Niemann-Pick disease, type A, 257200 (3); Niemann-Pick disease, type |
| mRNA | NM_000543, 300795568 |
| Protein | NP_000534, 56117840 |
| Product | sphingomyelin phosphodiesterase isoform 1 precursor |
| RefSeq Status | REVIEWED |
| mRNA | NM_001007593, 300795588 |
| Protein | NP_001007594, 300795589 |
| Product | sphingomyelin phosphodiesterase isoform 2 precursor |
| RefSeq Status | REVIEWED |
| hsa01100 | Metabolic pathways |
| hsa00600 | Sphingolipid metabolism |
| hsa04142 | Lysosome |
WikiPathways
| WP34 | Ovarian Infertility Genes |
Pathway Interaction Database
| trail_pathway | TRAIL signaling pathway |
| tnfpathway | TNF receptor signaling pathway |
| ceramide_pathway | Ceramide signaling pathway |
| faspathway | FAS (CD95) signaling pathway |
| il2_pi3kpathway | IL2 signaling events mediated by PI3K |
| Homo sapiens (human) | SMPD1 | NP_001007594.2 |
| Pan troglodytes (chimpanzee) | SMPD1 | XP_508253.2 |
| Canis lupus familiaris (dog) | SMPD1 | XP_542452.1 |
| Bos taurus (cattle) | SMPD1 | NP_001068655.1 |
| Mus musculus (house mouse) | Smpd1 | NP_035551.1 |
| Rattus norvegicus (Norway rat) | Smpd1 | NP_001006998.1 |
| Danio rerio (zebrafish) | LOC556700 | XP_683907.1 |
| Drosophila melanogaster (fruit fly) | CG3376 | NP_726435.1 |
| Caenorhabditis elegans | asm-2 | NP_509894.2 |
| Caenorhabditis elegans | asm-3 | NP_001040996.1 |
| Caenorhabditis elegans | asm-1 | NP_495415.2 |
| ID | Name | Evidence |
| GO:0006684 | sphingomyelin metabolic process | TAS |
| GO:0006685 | sphingomyelin catabolic process | IEA |
| GO:0007165 | signal transduction | TAS |
| GO:0007399 | nervous system development | TAS |
| GO:0008152 | metabolic process | IEA |
| GO:0008219 | cell death | IEA |
| GO:0042220 | response to cocaine | IEA |
| GO:0042493 | response to drug | IEA |
| GO:0043065 | positive regulation of apoptosis | IEA |
| GO:0046513 | ceramide biosynthetic process | IEA |
Component
| ID | Name | Evidence |
| GO:0005615 | extracellular space | IEA |
| GO:0005764 | lysosome | IEA |
| GO:0042599 | lamellar body | IEA |
Function
| ID | Name | Evidence |
| GO:0004767 | sphingomyelin phosphodiesterase activity | IEA |
| GO:0016798 | hydrolase activity, acting on glycosyl bonds | IEA |
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