AAA58377.1
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
69,624 Da
NCBI Official Full Name
acid sphingomyelinase
NCBI Official Synonym Full Names
sphingomyelin phosphodiesterase 1
NCBI Protein Information
sphingomyelin phosphodiesterase
UniProt Protein Name
Sphingomyelin phosphodiesterase
UniProt Synonym Protein Names
Acid sphingomyelinase; aSMase
UniProt Synonym Gene Names
UniProt Entry Name
ASM_HUMAN
NCBI Summary for ASM
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]
UniProt Comments for ASM
SMPD1: Converts sphingomyelin to ceramide. Also has phospholipase C activities toward 1,2-diacylglycerolphosphocholine and 1,2-diacylglycerolphosphoglycerol. Isoform 2 and isoform 3 have lost catalytic activity. Monomer. Belongs to the acid sphingomyelinase family. 3 isoforms of the human protein are produced by alternative splicing.
Protein type: Lipid Metabolism - sphingolipid; EC 3.1.4.12; Phosphodiesterase
Chromosomal Location of Human Ortholog: 11p15.4-p15.1
Cellular Component: endosome; extracellular space; lamellar body; lysosomal lumen; lysosome; plasma membrane
Molecular Function: hydrolase activity, acting on glycosyl bonds; protein binding; sphingomyelin phosphodiesterase activity
Biological Process: ceramide biosynthetic process; glycosphingolipid metabolic process; negative regulation of MAP kinase activity; nervous system development; positive regulation of apoptosis; positive regulation of protein amino acid dephosphorylation; response to cocaine; response to drug; signal transduction; sphingolipid metabolic process; sphingomyelin catabolic process; sphingomyelin metabolic process
Disease: Niemann-pick Disease, Type A; Niemann-pick Disease, Type B
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Products associated with ASM elisa kit
Pathways associated with ASM elisa kit
Diseases associated with ASM elisa kit
Organs/Tissues associated with ASM elisa kit
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