Protein family
Protein sequence
Protein function
Publications
Catalytic activity
EC number
EC number description
3.1.4.12
Hydrolases;
Acting on ester bonds;
Phosphoric-diester hydrolases;
sphingomyelin phosphodiesterase
3.1.4.3
Hydrolases;
Acting on ester bonds;
Phosphoric-diester hydrolases;
phospholipase C
GO ontology
|
GO term | GO description |
|---|---|---|
| Biological Process | GO:0034644 | cellular response to UV |
| Biological Process | GO:0071277 | cellular response to calcium ion |
| Biological Process | GO:0046513 | ceramide biosynthetic process |
| Biological Process | GO:0008203 | cholesterol metabolic process |
| Biological Process | GO:0006687 | glycosphingolipid metabolic process |
| Biological Process | GO:0043407 | negative regulation of MAP kinase activity |
| Biological Process | GO:0007399 | nervous system development |
| Biological Process | GO:0001778 | plasma membrane repair |
| Biological Process | GO:0043065 | positive regulation of apoptotic process |
| Biological Process | GO:0045807 | positive regulation of endocytosis |
| Biological Process | GO:0035307 | positive regulation of protein dephosphorylation |
| Biological Process | GO:0046598 | positive regulation of viral entry into host cell |
| Biological Process | GO:0042220 | response to cocaine |
| Biological Process | GO:0070555 | response to interleukin-1 |
| Biological Process | GO:0010212 | response to ionizing radiation |
| Biological Process | GO:0034612 | response to tumor necrosis factor |
| Biological Process | GO:0034340 | response to type I interferon |
| Biological Process | GO:0009615 | response to virus |
| Biological Process | GO:0009410 | response to xenobiotic stimulus |
| Biological Process | GO:0007165 | signal transduction |
| Biological Process | GO:0006685 | sphingomyelin catabolic process |
| Biological Process | GO:0006684 | sphingomyelin metabolic process |
| Biological Process | GO:0023021 | termination of signal transduction |
| Biological Process | GO:0046718 | viral entry into host cell |
| Biological Process | GO:0042060 | wound healing |
| Molecular Function | GO:0061750 | acid sphingomyelin phosphodiesterase activity |
| Molecular Function | GO:0016248 | channel inhibitor activity |
| Molecular Function | GO:0016798 | hydrolase activity, acting on glycosyl bonds |
| Molecular Function | GO:0034480 | phosphatidylcholine phospholipase C activity |
| Molecular Function | GO:0004767 | sphingomyelin phosphodiesterase activity |
| Molecular Function | GO:0008270 | zinc ion binding |
| Cellular Component | GO:0036019 | endolysosome |
| Cellular Component | GO:0005768 | endosome |
| Cellular Component | GO:0070062 | extracellular exosome |
| Cellular Component | GO:0005615 | extracellular space |
| Cellular Component | GO:0042599 | lamellar body |
| Cellular Component | GO:0005811 | lipid droplet |
| Cellular Component | GO:0043202 | lysosomal lumen |
| Cellular Component | GO:0005764 | lysosome |
| Cellular Component | GO:0005886 | plasma membrane |
| InterPro
|
InterPro name |
|---|---|
| IPR004843 | Calcineurin-like phosphoesterase domain, ApaH type |
| IPR008139 | Saposin B type domain |
| IPR011001 | Saposin-like |
| IPR011160 | Sphingomyelin phosphodiesterase |
| IPR029052 | Metallo-dependent phosphatase-like |
| IPR041805 | Acid sphingomyelinase/endopolyphosphatase, metallophosphatase domain |
| IPR045473 | Sphingomyelin phosphodiesterase, C-terminal domain |
| Pfam
|
Pfam name |
|---|---|
| PF00149 | Calcineurin-like phosphoesterase |
| PF19272 | Acid sphingomyelin phosphodiesterase C-terminal region |
| Reactome
|
Reactome Name | Node type
|
Reactome Root | Reactome Root Name |
|---|---|---|---|---|
| R-HSA-1660662 | Glycosphingolipid metabolism | Leaf | R-HSA-1430728 | Metabolism |
| Location
|
ECO term
|
Pubmed |
|---|---|---|
| Lipid droplet | ECO:0000269 | PubMed:25339683 |
| Lysosome | ECO:0000269 | PubMed:16787399 |
| Lysosome | ECO:0000269 | PubMed:18815062 |
| Lysosome | ECO:0000269 | PubMed:20530211 |
| Lysosome | ECO:0000269 | PubMed:20807762 |
| Lysosome | ECO:0000269 | PubMed:27659707 |
| Lysosome | ECO:0000269 | PubMed:9660788 |
| Secreted | ECO:0000269 | PubMed:12563314 |
| Secreted | ECO:0000269 | PubMed:16787399 |
| Secreted | ECO:0000269 | PubMed:17303575 |
| Secreted | ECO:0000269 | PubMed:20530211 |
| Secreted | ECO:0000269 | PubMed:20807762 |
| Secreted | ECO:0000269 | PubMed:22573858 |
| Secreted | ECO:0000269 | PubMed:27659707 |
| Secreted | ECO:0000269 | PubMed:8702487 |
| Secreted | ECO:0000269 | PubMed:9030779 |
| Secreted | ECO:0000269 | PubMed:9660788 |
| Secreted, extracellular space | ECO:0000250 |
| HPO ID
|
HPO name |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000256 | Macrocephaly |
| HP:0000639 | Nystagmus |
| HP:0000707 | Abnormality of the nervous system |
| HP:0000708 | Atypical behavior |
| HP:0000716 | Depression |
| HP:0000737 | Irritability |
| HP:0000823 | Delayed puberty |
| HP:0000938 | Osteopenia |
| HP:0000939 | Osteoporosis |
| HP:0000991 | Xanthomatosis |
| HP:0001081 | Cholelithiasis |
| HP:0001103 | Abnormal macular morphology |
| HP:0001249 | Intellectual disability |
| HP:0001251 | Ataxia |
| HP:0001252 | Hypotonia |
| HP:0001257 | Spasticity |
| HP:0001263 | Global developmental delay |
| HP:0001265 | Hyporeflexia |
| HP:0001268 | Mental deterioration |
| HP:0001317 | Abnormal cerebellum morphology |
| HP:0001324 | Muscle weakness |
| HP:0001328 | Specific learning disability |
| HP:0001394 | Cirrhosis |
| HP:0001399 | Hepatic failure |
| HP:0001410 | Decreased liver function |
| HP:0001508 | Failure to thrive |
| HP:0001538 | Protuberant abdomen |
| HP:0001541 | Ascites |
| HP:0001654 | Abnormal heart valve morphology |
| HP:0001677 | Coronary artery atherosclerosis |
| HP:0001744 | Splenomegaly |
| HP:0001873 | Thrombocytopenia |
| HP:0001892 | Abnormal bleeding |
| HP:0001903 | Anemia |
| HP:0001935 | Microcytic anemia |
| HP:0001971 | Hypersplenism |
| HP:0001973 | Autoimmune thrombocytopenia |
| HP:0001982 | Sea-blue histiocytosis |
| HP:0002013 | Vomiting |
| HP:0002019 | Constipation |
| HP:0002063 | Rigidity |
| HP:0002094 | Dyspnea |
| HP:0002121 | Generalized non-motor (absence) seizure |
| HP:0002155 | Hypertriglyceridemia |
| HP:0002186 | Apraxia |
| HP:0002188 | Delayed CNS myelination |
| HP:0002194 | Delayed gross motor development |
| HP:0002205 | Recurrent respiratory infections |
| HP:0002207 | Diffuse reticular or finely nodular infiltrations |
| HP:0002240 | Hepatomegaly |
| HP:0002305 | Athetosis |
| HP:0002376 | Developmental regression |
| HP:0002540 | Inability to walk |
| HP:0002716 | Lymphadenopathy |
| HP:0002725 | Systemic lupus erythematosus |
| HP:0002750 | Delayed skeletal maturation |
| HP:0002756 | Pathologic fracture |
| HP:0002829 | Arthralgia |
| HP:0002896 | Neoplasm of the liver |
| HP:0003077 | Hyperlipidemia |
| HP:0003119 | Abnormal circulating lipid concentration |
| HP:0003141 | Increased LDL cholesterol concentration |
| HP:0003202 | Skeletal muscle atrophy |
| HP:0003233 | Decreased HDL cholesterol concentration |
| HP:0003593 | Infantile onset |
| HP:0003596 | Middle age onset |
| HP:0003609 | Foam cells with lamellar inclusion bodies |
| HP:0003621 | Juvenile onset |
| HP:0004322 | Short stature |
| HP:0004333 | Bone-marrow foam cells |
| HP:0004836 | Acute promyelocytic leukemia |
| HP:0004887 | Respiratory failure requiring assisted ventilation |
| HP:0006520 | Progressive pulmonary function impairment |
| HP:0006530 | Abnormal pulmonary interstitial morphology |
| HP:0006579 | Prolonged neonatal jaundice |
| HP:0007018 | Attention deficit hyperactivity disorder |
| HP:0007302 | Bipolar affective disorder |
| HP:0008872 | Feeding difficulties in infancy |
| HP:0009830 | Peripheral neuropathy |
| HP:0010729 | Cherry red spot of the macula |
| HP:0011462 | Young adult onset |
| HP:0011463 | Childhood onset |
| HP:0012415 | Abnormal blood gas level |
| HP:0030353 | Decreased serum insulin-like growth factor 1 |
| HP:0031956 | Elevated circulating aspartate aminotransferase concentration |
| HP:0031964 | Elevated circulating alanine aminotransferase concentration |
| HP:0034300 | Decreased acid sphingomyelinase activity |
| HP:0045051 | Decreased DLCO |
| Tissue
|
Cell type
|
Expression level | Reliability |
|---|
| Disease name | MONDO ID
|
ICD10
|
ICD10 chapter
|
OMIM
|
Orphanet
|
|---|---|---|---|---|---|
| intellectual disability | MONDO:0001071 | F70 | chapter5, Mental and behavioural disorders | Orphanet:319658 | |
| niemann-pick disease type a | MONDO:0009756 | E75 | chapter4, Endocrine, nutritional and metabolic diseases | OMIM:257200 | Orphanet:77292 |
| ceroid lipofuscinosis, neuronal, 6a | MONDO:0011144 | E75 | chapter4, Endocrine, nutritional and metabolic diseases | OMIM:601780 | Orphanet:228363 |
| niemann-pick disease type b | MONDO:0011871 | E75 | chapter4, Endocrine, nutritional and metabolic diseases | OMIM:607616 | Orphanet:77293 |
| niemann-pick disease type b | MONDO:0011871 | E75 | chapter4, Endocrine, nutritional and metabolic diseases | OMIM:607616 | Orphanet:99022 |