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 |