P17405.4
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UniProt Primary Accession #
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UniProt Secondary Accession #
UniProt Related Accession #
NCBI Official Full Name
Sphingomyelin phosphodiesterase
NCBI Official Synonym Full Names
sphingomyelin phosphodiesterase 1, acid lysosomal
NCBI Protein Information
sphingomyelin phosphodiesterase; acid sphingomyelinase
UniProt Protein Name
Sphingomyelin phosphodiesterase
UniProt Synonym Protein Names
Acid sphingomyelinase; aSMase
UniProt Synonym Gene Names
UniProt Entry Name
ASM_HUMAN
NCBI Summary for SMPD1
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 SMPD1
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: EC 3.1.4.12; Phosphodiesterase; Lipid Metabolism - sphingolipid
Chromosomal Location of Human Ortholog: 11p15.4-p15.1
Cellular Component: extracellular space; lysosomal lumen; lysosome; plasma membrane; endosome; lamellar body
Molecular Function: protein binding; sphingomyelin phosphodiesterase activity; hydrolase activity, acting on glycosyl bonds
Biological Process: response to drug; nervous system development; negative regulation of MAP kinase activity; sphingomyelin metabolic process; sphingolipid metabolic process; positive regulation of apoptosis; ceramide biosynthetic process; glycosphingolipid metabolic process; sphingomyelin catabolic process; signal transduction; response to cocaine; positive regulation of protein amino acid dephosphorylation
Disease: Niemann-pick Disease, Type B; Niemann-pick Disease, Type A
Research Articles on SMPD1
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Products associated with anti-SMPD1 antibody
Pathways associated with anti-SMPD1 antibody
Diseases associated with anti-SMPD1 antibody
Organs/Tissues associated with anti-SMPD1 antibody
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