Mus musculus Gene: Smpd1 | |||||||||||||||||
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Summary | |||||||||||||||||
InnateDB Gene | IDBG-204717.6 | ||||||||||||||||
Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||
Gene Symbol | Smpd1 | ||||||||||||||||
Gene Name | sphingomyelin phosphodiesterase 1, acid lysosomal | ||||||||||||||||
Synonyms | A-SMase; ASM; aSMase; Zn-SMase | ||||||||||||||||
Species | Mus musculus | ||||||||||||||||
Ensembl Gene | ENSMUSG00000037049 | ||||||||||||||||
Encoded Proteins |
sphingomyelin phosphodiesterase 1, acid lysosomal
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Protein Structure |
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Useful resources | Stemformatics EHFPI ImmGen | ||||||||||||||||
Entrez Gene | |||||||||||||||||
Summary |
This gene does not have any Entrez summary - the following is the summary from its human ortholog ENSG00000166311:
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] |
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Gene Information | |||||||||||||||||
Type | Protein coding | ||||||||||||||||
Genomic Location | Chromosome 7:105554360-105558388 | ||||||||||||||||
Strand | Forward strand | ||||||||||||||||
Band | E3 | ||||||||||||||||
Transcripts |
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Interactions | |||||||||||||||||
Number of Interactions |
This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
They are also associated with 5 interaction(s) predicted by orthology.
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Gene Ontology | |||||||||||||||||
Molecular Function |
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Biological Process |
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Cellular Component |
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Orthologs | |||||||||||||||||
Species
Homo sapiens
Bos taurus
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Gene ID
Gene Order
Not yet available
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Pathways | |||||||||||||||||
NETPATH | |||||||||||||||||
REACTOME |
Glycosphingolipid metabolism pathway
Metabolism pathway
Sphingolipid metabolism pathway
Metabolism of lipids and lipoproteins pathway
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KEGG |
Sphingolipid metabolism pathway
Lysosome pathway
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INOH | |||||||||||||||||
PID NCI | |||||||||||||||||
Pathway Predictions based on Human Orthology Data | |||||||||||||||||
NETPATH | |||||||||||||||||
REACTOME |
Glycosphingolipid metabolism pathway
Sphingolipid metabolism pathway
Metabolism of lipids and lipoproteins pathway
Metabolism pathway
Glycosphingolipid metabolism pathway
Sphingolipid metabolism pathway
Metabolism of lipids and lipoproteins pathway
Metabolism pathway
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KEGG |
Sphingolipid metabolism pathway
Lysosome pathway
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INOH | |||||||||||||||||
PID NCI |
Ceramide signaling pathway
TNF receptor signaling pathway
TRAIL signaling pathway
IL2 signaling events mediated by PI3K
FAS (CD95) signaling pathway
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Cross-References | |||||||||||||||||
SwissProt | Q04519 | ||||||||||||||||
TrEMBL | |||||||||||||||||
UniProt Splice Variant | |||||||||||||||||
Entrez Gene | 20597 | ||||||||||||||||
UniGene | Mm.4628 Mm.490901 | ||||||||||||||||
RefSeq | NM_011421 | ||||||||||||||||
OMIM | |||||||||||||||||
CCDS | CCDS21653 | ||||||||||||||||
HPRD | |||||||||||||||||
IMGT | |||||||||||||||||
MGI ID | MGI:98325 | ||||||||||||||||
MGI Symbol | Smpd1 | ||||||||||||||||
EMBL | AK088147 AK145534 AK145702 AK164167 BC011304 Z14132 Z14252 | ||||||||||||||||
GenPept | AAH11304 BAC40171 BAE26489 BAE26598 BAE37659 CAA78506 CAA78619 | ||||||||||||||||
RNA Seq Atlas | 20597 | ||||||||||||||||