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SMPD1 sphingomyelin phosphodiesterase 1, acid lysosomal [Homo sapiens (human)]


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_000543 Homo sapiens sphingomyelin phosphodiesterase 1, acid lysosomal (SMPD1), transcript variant 1, mRNA. GenEZ ORF Cloning On-demand TBD TBD
NM_001007593 Homo sapiens sphingomyelin phosphodiesterase 1, acid lysosomal (SMPD1), transcript variant 2, mRNA. GenEZ ORF Cloning On-demand TBD TBD
XM_005253075 PREDICTED: Homo sapiens sphingomyelin phosphodiesterase 1, acid lysosomal (SMPD1), transcript variant X2, mRNA. GenEZ ORF Cloning On-demand TBD TBD

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Gene Symbol SMPD1
Entrez Gene ID 6609
Full Name sphingomyelin phosphodiesterase 1, acid lysosomal
Synonyms ASM, ASMASE, NPD
General protein information
Preferred Names
sphingomyelin phosphodiesterase
Names
sphingomyelin phosphodiesterase
acid sphingomyelinase
NP_000534.3
NP_001007594.2
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, Jul 2010].
Disorder

MIM: 607608

Niemann-Pick disease, type A, 257200 (3); Niemann-Pick disease, type

mRNA Protein Product Sequence Price Select
NM_000543, 300795568 NP_000534, 56117840 sphingomyelin phosphodiesterase isoform 1 precursor ORF Sequence $700.00
NM_001007593, 300795588 NP_001007594, 300795589 sphingomyelin phosphodiesterase isoform 2 precursor ORF Sequence $700.00
XM_005253075, 578820705 XP_005253132, 530395676 sphingomyelin phosphodiesterase isoform X2 ORF Sequence $550.00
KEGG
hsa00600Sphingolipid metabolism
hsa04142Lysosome
WikiPathways
WP34Ovarian Infertility Genes
Pathway Interaction Database
il2_pi3kpathwayIL2 signaling events mediated by PI3K
trail_pathwayTRAIL signaling pathway
faspathwayFAS (CD95) signaling pathway
ceramide_pathwayCeramide signaling pathway
tnfpathwayTNF receptor signaling pathway
BIOCYC
HUMAN_PWY3DJ-11281sphingomyelin metabolism
Reactome
REACT_19323Sphingolipid metabolism
REACT_22258Metabolism of lipids and lipoproteins
REACT_111217Metabolism
REACT_116105Glycosphingolipid metabolism
Homo sapiens (human)SMPD1NP_000534.3
Pan troglodytes (chimpanzee)SMPD1XP_508253.2
Macaca mulatta (Rhesus monkey)SMPD1XP_001110212.1
Canis lupus familiaris (dog)SMPD1XP_542452.1
Bos taurus (cattle)SMPD1NP_001068655.1
Mus musculus (house mouse)Smpd1NP_035551.1
Rattus norvegicus (Norway rat)Smpd1NP_001006998.1
Gallus gallus (chicken)SMPD1XP_003640663.2
Danio rerio (zebrafish)smpd1XP_683907.1
Drosophila melanogaster (fruit fly)CG3376NP_611904.1
Caenorhabditis elegansasm-2NP_509894.2
Xenopus (Silurana) tropicalis (western clawed frog)LOC100487433XP_002943546.1
Process
IDNameEvidence
GO:0006665sphingolipid metabolic processTAS
GO:0006684sphingomyelin metabolic processTAS
GO:0006685sphingomyelin catabolic processIEA
GO:0006687glycosphingolipid metabolic processTAS
GO:0007165signal transductionTAS
GO:0007399nervous system developmentTAS
GO:0008219cell deathIEA
GO:0023021termination of signal transductionIMP
GO:0035307positive regulation of protein dephosphorylationIMP
GO:0042220response to cocaineIEA
GO:0042493response to drugIEA
GO:0043065positive regulation of apoptotic processIEA
GO:0043407negative regulation of MAP kinase activityIMP
GO:0044281small molecule metabolic processTAS
GO:0046513ceramide biosynthetic processIMP
Component
IDNameEvidence
GO:0005615extracellular spaceIEA
GO:0042599lamellar bodyIEA
GO:0043202lysosomal lumenTAS
GO:0070062extracellular vesicular exosomeIDA
Function
IDNameEvidence
GO:0004767sphingomyelin phosphodiesterase activityIEA
GO:0005515protein bindingIPI
GO:0016798hydrolase activity, acting on glycosyl bondsIEA
GeneCards SMPD1
UniProt P17405, Q59EN6
Vega OTTHUMG00000165453
MIM 607608
Ensembl ENSG00000166311
HGNC 11120
HPRD 06353

GeneRIFs: Gene References Into Functions What's a GeneRIF?

What is the normal function of the SMPD1 gene?

The SMPD1 gene carries the instructions to make an enzyme called acid sphingomyelinase. This enzyme is found in lysosomes (small compartments in the cell that digest and recycle molecules) and is responsible for the conversion of a lipid (fat) called sphingomyelin into another type of lipid called ceramide. This lipid conversion is critical for the normal structure and function of cells and tissues.

One copy of this gene is inherited from each parent; however, only the gene inherited from a person's mother (the maternal copy) is active. This parent-specific gene activation is called genomic imprinting. If the maternal copy of the SMPD1 gene is lost because of a chromosomal change or a gene mutation, a person will have no active copies of the gene because the gene inherited from a person's father (the paternal copy) is inactive.

Interactant

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