Gene Information
Gene NameSMPD1
OrganismHomo sapiens (Human)
Gene Length631
Protein NamesSphingomyelin phosphodiesterase (EC 3.1.4.12) (EC 3.1.4.3) (Acid sphingomyelinase) (aSMase) [Cleaved into: Sphingomyelin phosphodiesterase, processed form]
Target Namesphingomyelin phosphodiesterase
Target TypeNA
Gene Age1064 ( ENSG00000166311 )
Evolutionary StageEukaryota
AlphaFoldDBP17405
Gene CardSMPD1
Uniprot IDP17405
PfamPF19272; PF00149
In ASDno
Allosteric Predictionyes (0.871507743)
Ortholog in AnimalsAlpaca_ SMPD1 ( ortholog_one2one )
Dog_ SMPD1 ( ortholog_one2one )
GuineaPig_ SMPD1 ( ortholog_one2one )
Macaque_ SMPD1 ( ortholog_one2one )
Mouse_ Smpd1 ( ortholog_one2one )
Pig_ SMPD1 ( ortholog_one2one )
Rat_ Smpd1 ( ortholog_one2one )
Rabbit_ SMPD1 ( ortholog_one2one )
OhnologsNA
ParalogsSMPDL3A, SMPDL3B
TissueNA
Tissue SpecificityNA
Pharmacological Animal ModelsNA
Gene Ontology
(biological process)
Gene Ontology
(cellular component)
Gene Ontology
(molecular function)
PDB 5I81  (X-ray  2.25A  )  5I85  (X-ray  2.50A  )  5I8R  (X-ray  3.65A  )  5JG8  (X-ray  2.80A  ) 
DBSNP rs550365194  rs1050228  rs3838786  rs748589919  rs751269562  rs797044797  rs727504166  rs780134410  rs749780769  rs1057517195  rs797044798  rs749595299  rs764317969  rs1564923612  rs1057516483  rs141387770  rs1291958011  rs120074122  rs1590739350  rs587779408  rs200763423  rs200763423  rs750779804  rs398123479  rs752148586  rs1803161  rs120074128  rs35824453  rs120074124  rs1228068212  rs12575136  rs757934797  rs779927660  rs1050233  rs761308217  rs202081954  rs797044800  rs372287825  rs1342372980  rs559088058  rs120074121  rs120074123  rs120074125  rs1451199796  rs767492080  rs120074126  rs1554935136  rs794727629  rs779528546  rs267607073  rs747143343  rs1402734026  rs1319643225  rs267607074  rs763566905  rs182812968  rs753508874  rs267607075  rs141641266  rs398123477  rs144873307  rs1554935371  rs769904764  rs120074117  rs120074117  rs1050239  rs200652683  rs142787001  rs371837210  rs1554935555  rs747342458  rs120074119  rs1554935731  rs138531908  rs370129081  rs375915127 
Subcellular location [CC]Lysosome {ECO:0000269|PubMed:16787399, ECO:0000269|PubMed:18815062, ECO:0000269|PubMed:20530211, ECO:0000269|PubMed:20807762, ECO:0000269|PubMed:27659707, ECO:0000269|PubMed:9660788}. Lipid droplet {ECO:0000269|PubMed:25339683}. Secreted {ECO:0000269|PubMed:12563314, ECO:0000269|PubMed:16787399, ECO:0000269|PubMed:17303575, ECO:0000269|PubMed:20530211, ECO:0000269|PubMed:20807762, ECO:0000269|PubMed:22573858, ECO:0000269|PubMed:27659707, ECO:0000269|PubMed:8702487, ECO:0000269|PubMed:9030779, ECO:0000269|PubMed:9660788}. Note=The secreted form is induced in a time- and dose-dependent by IL1B and TNF as well as stress and viral infection. This increase of the secreted form seems to be due to exocytosis of the lysosomal form and is Ca(2+)-dependent (PubMed:20807762, PubMed:22573858, PubMed:20530211). Secretion is dependent of phosphorylation at Ser-510 (PubMed:17303575). Secretion is induced by inflammatory mediators such as IL1B, IFNG or TNF as well as infection with bacteria and viruses (PubMed:12563314, PubMed:20807762). {ECO:0000269|PubMed:12563314, ECO:0000269|PubMed:17303575, ECO:0000269|PubMed:20530211, ECO:0000269|PubMed:20807762, ECO:0000269|PubMed:22573858}.;
[Sphingomyelin phosphodiesterase, processed form]: Secreted, extracellular space {ECO:0000250|UniProtKB:Q04519}. Note=This form is generated following cleavage by CASP7. {ECO:0000250|UniProtKB:Q04519}.
Mouse PG classificationNA
click here to return to the previous page