Protein family
Protein sequence
Protein function
Catalytic activity
EC number
EC number description
3.5.1.-
Hydrolases;
Acting on carbon-nitrogen bonds, other than peptide bonds;
In linear amides;
3.5.1.23
Hydrolases;
Acting on carbon-nitrogen bonds, other than peptide bonds;
In linear amides;
ceramidase
| GO ontology
|
GO term | GO description |
|---|---|---|
| Biological Process | GO:0046514 | ceramide catabolic process |
| Biological Process | GO:0006954 | inflammatory response |
| Biological Process | GO:0042552 | myelination |
| Biological Process | GO:0071602 | phytosphingosine biosynthetic process |
| Biological Process | GO:0008284 | positive regulation of cell population proliferation |
| Biological Process | GO:0043067 | regulation of programmed cell death |
| Biological Process | GO:0030148 | sphingolipid biosynthetic process |
| Biological Process | GO:0046512 | sphingosine biosynthetic process |
| Molecular Function | GO:0017040 | N-acylsphingosine amidohydrolase activity |
| Molecular Function | GO:0005509 | calcium ion binding |
| Molecular Function | GO:0102121 | ceramidase activity |
| Molecular Function | GO:0071633 | dihydroceramidase activity |
| Molecular Function | GO:0070774 | phytoceramidase activity |
| Molecular Function | GO:0008270 | zinc ion binding |
| Cellular Component | GO:0000139 | Golgi membrane |
| Cellular Component | GO:0005789 | endoplasmic reticulum membrane |
| Cellular Component | GO:0016020 | membrane |
| Reactome
|
Reactome Name | Node type
|
Reactome Root | Reactome Root Name |
|---|---|---|---|---|
| R-HSA-1660661 | Sphingolipid de novo biosynthesis | Leaf | R-HSA-1430728 | Metabolism |
| Location
|
ECO term
|
Pubmed |
|---|---|---|
| Endoplasmic reticulum membrane | ECO:0000269 | PubMed:11356846 |
| Endoplasmic reticulum membrane | ECO:0000269 | PubMed:30575723 |
| Golgi apparatus membrane | ECO:0000269 | PubMed:11356846 |
| Golgi apparatus membrane | ECO:0000269 | PubMed:30575723 |
| HPO ID
|
HPO name |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000011 | Neurogenic bladder |
| HP:0000179 | Thick lower lip vermilion |
| HP:0000280 | Coarse facial features |
| HP:0000319 | Smooth philtrum |
| HP:0000340 | Sloping forehead |
| HP:0000369 | Low-set ears |
| HP:0000448 | Prominent nose |
| HP:0000543 | Optic disc pallor |
| HP:0000574 | Thick eyebrow |
| HP:0001284 | Areflexia |
| HP:0001332 | Dystonia |
| HP:0002059 | Cerebral atrophy |
| HP:0002079 | Hypoplasia of the corpus callosum |
| HP:0002376 | Developmental regression |
| HP:0002415 | Leukodystrophy |
| HP:0003593 | Infantile onset |
| HP:0003676 | Progressive |
| HP:0004322 | Short stature |
| HP:0004482 | Relative macrocephaly |
| HP:0007281 | Developmental stagnation |
| HP:0008936 | Axial hypotonia |
| HP:0009830 | Peripheral neuropathy |
| HP:0010864 | Intellectual disability, severe |
| HP:0034353 | Appendicular spasticity |
| HP:0034392 | Joint contracture |
| Disease name | MONDO ID
|
ICD10
|
ICD10 chapter
|
OMIM
|
Orphanet
|
|---|---|---|---|---|---|
| alkaline ceramidase 3 deficiency | MONDO:0044718 | E75 | chapter4, Endocrine, nutritional and metabolic diseases | OMIM:617762 | Orphanet:502444 |