EC Number | Cloned (Comment) | Organism |
---|---|---|
3.1.4.12 | transient transfection of the His/V5-tagged wild-type and mutant recombinant ASM in CHO cells | Homo sapiens |
EC Number | Protein Variants | Comment | Organism |
---|---|---|---|
3.1.4.12 | G577A | naturally occuring mutation, the mutant has severely defective enzymatic function | Homo sapiens |
3.1.4.12 | additional information | DELTAR608 is a naturally occuring deletion mutation, construction of five serial carboxyl-terminal deletion mutants N620, N590, N570, N510, and N490, none of which, except the smallest deletion mutant N620 that preserves all post-translational modifications, are found capable of secretion to the medium, only the N620 deletion mutant conserves functional integrity with 100% wild type activity, all other mutants completely loose the ability to catalyze sphingomyelin hydrolysis, mutant DELTAR608 transfected CHO cells and fibroblasts from a compound heterozygous Niemann-Pick disease type B patient, DELTAR608 and R441X, have defective translocation to the plasma membrane, deletion mutants DELTAR608 and N590 are trapped in the endoplasmic reticulum quality control checkpoint in contrast to the wild-type lysosomal localization, steady-state levels of ubiquitination are minimal for the wild-type ASM, a significant amount of Lys63-linked polyubiquitinated DELTAR608 and N590 can be purified by S5a-affinity chromatography, indicating an important misfolding in the carboxyl-terminal mutants | Homo sapiens |
3.1.4.12 | R496L | naturally occuring mutation, the mutant has severely defective enzymatic function | Homo sapiens |
3.1.4.12 | Y537H | naturally occuring mutation, the mutant has severely defective enzymatic function | Homo sapiens |
EC Number | Localization | Comment | Organism | GeneOntology No. | Textmining |
---|---|---|---|---|---|
3.1.4.12 | extracellular | ASM is a secretory protein | Homo sapiens | - |
- |
3.1.4.12 | lysosome | ASM is a secretory protein | Homo sapiens | 5764 | - |
EC Number | Molecular Weight [Da] | Molecular Weight Maximum [Da] | Comment | Organism |
---|---|---|---|---|
3.1.4.12 | 70000 | - |
x * 70000 | Homo sapiens |
EC Number | Natural Substrates | Organism | Comment (Nat. Sub.) | Natural Products | Comment (Nat. Pro.) | Rev. | Reac. |
---|---|---|---|---|---|---|---|
3.1.4.12 | sphingomyelin + H2O | Homo sapiens | degradation of sphingomyelin | N-acylsphingosine + choline phosphate | - |
? |
EC Number | Organism | UniProt | Comment | Textmining |
---|---|---|---|---|
3.1.4.12 | Homo sapiens | - |
acid sphingomyelinase, gene SMPD-1 | - |
EC Number | Posttranslational Modification | Comment | Organism |
---|---|---|---|
3.1.4.12 | additional information | steady-state levels of ubiquitination are minimal for the wild-type ASM | Homo sapiens |
EC Number | Specific Activity Minimum [µmol/min/mg] | Specific Activity Maximum [µmol/min/mg] | Comment | Organism |
---|---|---|---|---|
3.1.4.12 | additional information | - |
activity of wild-type and mutant enzymes, overview | Homo sapiens |
EC Number | Substrates | Comment Substrates | Organism | Products | Comment (Products) | Rev. | Reac. |
---|---|---|---|---|---|---|---|
3.1.4.12 | additional information | structural-functional properties of its carboxyl-terminus, amino acids 462-629, the carboxyl-terminus of the ASM is crucial for its protein structure, which in turns dictates the enzymatic function and secretion, overview | Homo sapiens | ? | - |
? | |
3.1.4.12 | sphingomyelin + H2O | - |
Homo sapiens | N-acylsphingosine + choline phosphate | - |
? | |
3.1.4.12 | sphingomyelin + H2O | degradation of sphingomyelin | Homo sapiens | N-acylsphingosine + choline phosphate | - |
? |
EC Number | Subunits | Comment | Organism |
---|---|---|---|
3.1.4.12 | ? | x * 70000 | Homo sapiens |
3.1.4.12 | More | structural-functional properties of its carboxyl-terminus, amino acids 462-629, overview, ASM consists of a signal peptide, amino acids 1-46, in the N-terminal region, a small transmembrane domain, amino acids 25-47, a saposin B region, amino acids 87-165, that serves as an activator of various lysosomal lipid-degrading enzymes, a proline-rich region, amino acids 179-197, followed by the metallophosphoesterase catalytic domain, amino acids 199-461 | Homo sapiens |
EC Number | Synonyms | Comment | Organism |
---|---|---|---|
3.1.4.12 | acid sphingomyelinase | - |
Homo sapiens |
3.1.4.12 | ASM | - |
Homo sapiens |
3.1.4.12 | SMPD-1 | - |
Homo sapiens |
3.1.4.12 | sphingomyelin phosphodiesterase 1 | - |
Homo sapiens |