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Sequence in raw or FASTA format:

Database:

Blast Method:

 
 


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


RefSeq Accession Definition Services Price Order
NM_000543 Homo sapiens sphingomyelin phosphodiesterase 1, acid lysosomal (SMPD1), transcript variant 1, mRNA. ORF Sequence $549.84
Peptide Services
Antibody Services
Protein Services
NM_001007593 Homo sapiens sphingomyelin phosphodiesterase 1, acid lysosomal (SMPD1), transcript variant 2, mRNA. ORF Sequence $548.97
Peptide Services
Antibody Services
Protein Services


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, 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 Full Length $719.78
ORF Sequence $549.84
NM_001007593, 300795588 NP_001007594, 300795589 sphingomyelin phosphodiesterase isoform 2 precursor Full Length $718.91
ORF Sequence $548.97
KEGG
hsa00600Sphingolipid metabolism
hsa04142Lysosome
WikiPathways
WP34Ovarian Infertility Genes
Pathway Interaction Database
il2_pi3kpathwayIL2 signaling events mediated by PI3K
faspathwayFAS (CD95) signaling pathway
trail_pathwayTRAIL signaling pathway
tnfpathwayTNF receptor signaling pathway
ceramide_pathwayCeramide signaling pathway
BIOCYC
HUMAN_PWY3DJ-11281sphingomyelin metabolism
Reactome
REACT_120870Phospholipid metabolism
REACT_111217Metabolism
REACT_19323Sphingolipid metabolism
REACT_22258Metabolism of lipids and lipoproteins
REACT_116105Glycosphingolipid metabolism
Homo sapiens (human)SMPD1NP_001007594.2
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_003640663.1
Danio rerio (zebrafish)LOC556700XP_683907.1
Drosophila melanogaster (fruit fly)CG3376NP_611904.1
Caenorhabditis elegansasm-2NP_509894.2
Caenorhabditis elegansasm-3NP_001040996.1
Caenorhabditis elegansasm-1NP_495415.2
GeneCards SMPD1
UniProt E9PKS3, P17405, Q59EN6
MIM 607608
Ensembl ENSG00000166311
HGNC 11120
HPRD 06353

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

General protein information

Preferred Names
sphingomyelin phosphodiesterase
Names
sphingomyelin phosphodiesterase
acid sphingomyelinase
NP_000534.3
NP_001007594.2

Interactant

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