Protein family
Protein sequence
Protein function
Publications
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:0071356 | cellular response to tumor necrosis factor |
| Biological Process | GO:0046513 | ceramide biosynthetic process |
| Biological Process | GO:0046514 | ceramide catabolic process |
| Biological Process | GO:0006631 | fatty acid metabolic process |
| Biological Process | GO:0030216 | keratinocyte differentiation |
| Biological Process | GO:1903507 | negative regulation of nucleic acid-templated transcription |
| Biological Process | GO:0062098 | regulation of programmed necrotic cell death |
| Biological Process | GO:0050810 | regulation of steroid biosynthetic process |
| Biological Process | GO:0046512 | sphingosine biosynthetic process |
| Molecular Function | GO:0017040 | N-acylsphingosine amidohydrolase activity |
| Molecular Function | GO:0102121 | ceramidase activity |
| Molecular Function | GO:0017064 | fatty acid amide hydrolase activity |
| Molecular Function | GO:0016811 | hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides |
| Molecular Function | GO:0016922 | nuclear receptor binding |
| Molecular Function | GO:0003714 | transcription corepressor activity |
| Cellular Component | GO:0070062 | extracellular exosome |
| Cellular Component | GO:0005576 | extracellular region |
| Cellular Component | GO:0005615 | extracellular space |
| Cellular Component | GO:1904813 | ficolin-1-rich granule lumen |
| Cellular Component | GO:0043202 | lysosomal lumen |
| Cellular Component | GO:0005764 | lysosome |
| Cellular Component | GO:0005634 | nucleus |
| Cellular Component | GO:1904724 | tertiary granule lumen |
| Reactome
|
Reactome Name | Node type
|
Reactome Root | Reactome Root Name |
|---|---|---|---|---|
| R-HSA-1660662 | Glycosphingolipid metabolism | Leaf | R-HSA-1430728 | Metabolism |
| R-HSA-6798695 | Neutrophil degranulation | Leaf | R-HSA-168256 | Immune System |
| Location
|
ECO term
|
Pubmed |
|---|---|---|
| Cytoplasm | ECO:0000305 | PubMed:22927646 |
| Lysosome | ECO:0000269 | PubMed:12764132 |
| Nucleus | ECO:0000305 | PubMed:22927646 |
| Secreted | ECO:0000269 | PubMed:7744740 |
| HPO ID
|
HPO name |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000407 | Sensorineural hearing impairment |
| HP:0000502 | Abnormal conjunctiva morphology |
| HP:0000608 | Macular degeneration |
| HP:0000639 | Nystagmus |
| HP:0000707 | Abnormality of the nervous system |
| HP:0000708 | Atypical behavior |
| HP:0000726 | Dementia |
| HP:0000737 | Irritability |
| HP:0000766 | Abnormal sternum morphology |
| HP:0000939 | Osteoporosis |
| HP:0001155 | Abnormality of the hand |
| HP:0001187 | Hyperextensibility of the finger joints |
| HP:0001249 | Intellectual disability |
| HP:0001250 | Seizure |
| HP:0001257 | Spasticity |
| HP:0001263 | Global developmental delay |
| HP:0001268 | Mental deterioration |
| HP:0001270 | Motor delay |
| HP:0001284 | Areflexia |
| HP:0001308 | Tongue fasciculations |
| HP:0001336 | Myoclonus |
| HP:0001337 | Tremor |
| HP:0001369 | Arthritis |
| HP:0001371 | Flexion contracture |
| HP:0001386 | Joint swelling |
| HP:0001395 | Hepatic fibrosis |
| HP:0001399 | Hepatic failure |
| HP:0001433 | Hepatosplenomegaly |
| HP:0001482 | Subcutaneous nodule |
| HP:0001508 | Failure to thrive |
| HP:0001541 | Ascites |
| HP:0001609 | Hoarse voice |
| HP:0001612 | Weak cry |
| HP:0001615 | Hoarse cry |
| HP:0001618 | Dysphonia |
| HP:0001686 | Loss of voice |
| HP:0001744 | Splenomegaly |
| HP:0001757 | High-frequency sensorineural hearing impairment |
| HP:0001760 | Abnormal foot morphology |
| HP:0001789 | Hydrops fetalis |
| HP:0001831 | Short toe |
| HP:0001873 | Thrombocytopenia |
| HP:0001903 | Anemia |
| HP:0001954 | Recurrent fever |
| HP:0001999 | Abnormal facial shape |
| HP:0002015 | Dysphagia |
| HP:0002028 | Chronic diarrhea |
| HP:0002086 | Abnormality of the respiratory system |
| HP:0002093 | Respiratory insufficiency |
| HP:0002098 | Respiratory distress |
| HP:0002100 | Recurrent aspiration pneumonia |
| HP:0002123 | Generalized myoclonic seizure |
| HP:0002197 | Generalized-onset seizure |
| HP:0002205 | Recurrent respiratory infections |
| HP:0002207 | Diffuse reticular or finely nodular infiltrations |
| HP:0002240 | Hepatomegaly |
| HP:0002300 | Mutism |
| HP:0002312 | Clumsiness |
| HP:0002355 | Difficulty walking |
| HP:0002359 | Frequent falls |
| HP:0002366 | Abnormal lower motor neuron morphology |
| HP:0002376 | Developmental regression |
| HP:0002385 | Paraparesis |
| HP:0002398 | Degeneration of anterior horn cells |
| HP:0002515 | Waddling gait |
| HP:0002540 | Inability to walk |
| HP:0002650 | Scoliosis |
| HP:0002716 | Lymphadenopathy |
| HP:0002747 | Respiratory insufficiency due to muscle weakness |
| HP:0002788 | Recurrent upper respiratory tract infections |
| HP:0002815 | Abnormality of the knee |
| HP:0002829 | Arthralgia |
| HP:0002878 | Respiratory failure |
| HP:0002910 | Elevated hepatic transaminase |
| HP:0003019 | Abnormality of the wrist |
| HP:0003049 | Ulnar deviation of the wrist |
| HP:0003202 | Skeletal muscle atrophy |
| HP:0003236 | Elevated circulating creatine kinase concentration |
| HP:0003391 | Gowers sign |
| HP:0003444 | EMG: chronic denervation signs |
| HP:0003621 | Juvenile onset |
| HP:0003640 | CNS foam cells |
| HP:0003676 | Progressive |
| HP:0003701 | Proximal muscle weakness |
| HP:0004302 | Functional motor deficit |
| HP:0004322 | Short stature |
| HP:0005483 | Abnormal epiglottis morphology |
| HP:0006511 | Laryngeal stridor |
| HP:0006575 | Intrahepatic cholestasis with episodic jaundice |
| HP:0007269 | Spinal muscular atrophy |
| HP:0007340 | Lower limb muscle weakness |
| HP:0007470 | Periarticular subcutaneous nodules |
| HP:0007759 | Opacification of the corneal stroma |
| HP:0007957 | Corneal opacity |
| HP:0008947 | Infantile muscular hypotonia |
| HP:0008955 | Progressive distal muscular atrophy |
| HP:0009134 | Osteolysis involving bones of the feet |
| HP:0009381 | Short finger |
| HP:0009771 | Osteolytic defects of the phalanges of the hand |
| HP:0009811 | Abnormality of the elbow |
| HP:0010501 | Limitation of knee mobility |
| HP:0010628 | Facial palsy |
| HP:0010729 | Cherry red spot of the macula |
| HP:0010819 | Atonic seizure |
| HP:0011147 | Typical absence seizure |
| HP:0011463 | Childhood onset |
| HP:0011842 | Abnormal skeletal morphology |
| HP:0011968 | Feeding difficulties |
| HP:0012379 | Abnormal circulating enzyme concentration or activity |
| HP:0012444 | Brain atrophy |
| HP:0012469 | Infantile spasms |
| HP:0025097 | Eyelid myoclonus |
| HP:0025190 | Bilateral tonic-clonic seizure with generalized onset |
| HP:0025392 | Nodular pattern on pulmonary HRCT |
| HP:0025405 | Visual fixation instability |
| HP:0025423 | Abnormal larynx morphology |
| HP:0032667 | Myoclonic status epilepticus |
| HP:0034053 | Decreased acid ceramidase activity |
| HP:0040139 | Lipogranulomatosis |
| HP:0045084 | Limb myoclonus |
| HP:0100750 | Atelectasis |
| HP:0200036 | Skin nodule |
| Tissue
|
Cell type
|
Expression level | Reliability |
|---|---|---|---|
| adipose tissue | adipocytes | Low | Supported |
| adrenal gland | glandular cells | High | Supported |
| appendix | glandular cells | Medium | Supported |
| bone marrow | hematopoietic cells | Medium | Supported |
| bronchus | respiratory epithelial cells | Medium | Supported |
| caudate | glial cells | High | Supported |
| caudate | neuronal cells | Medium | Supported |
| cerebellum | Purkinje cells | Medium | Supported |
| cerebellum | cells in granular layer | Medium | Supported |
| cerebellum | cells in molecular layer | Medium | Supported |
| cerebral cortex | glial cells | Medium | Supported |
| cerebral cortex | neuronal cells | High | Supported |
| cervix | glandular cells | Medium | Supported |
| cervix | squamous epithelial cells | Low | Supported |
| colon | glandular cells | Medium | Supported |
| duodenum | glandular cells | Medium | Supported |
| endometrium 1 | glandular cells | Medium | Supported |
| endometrium 2 | glandular cells | Medium | Supported |
| epididymis | glandular cells | High | Supported |
| esophagus | squamous epithelial cells | Low | Supported |
| fallopian tube | glandular cells | Medium | Supported |
| gallbladder | glandular cells | High | Supported |
| heart muscle | cardiomyocytes | High | Supported |
| hippocampus | glial cells | Medium | Supported |
| hippocampus | neuronal cells | Medium | Supported |
| kidney | cells in tubules | High | Supported |
| liver | cholangiocytes | Medium | Supported |
| liver | hepatocytes | Medium | Supported |
| lung | alveolar cells type I | Low | Supported |
| lung | alveolar cells type II | Low | Supported |
| lung | endothelial cells | Low | Supported |
| lung | macrophages | High | Supported |
| lymph node | germinal center cells | Low | Supported |
| lymph node | non-germinal center cells | Medium | Supported |
| nasopharynx | respiratory epithelial cells | Medium | Supported |
| oral mucosa | squamous epithelial cells | Low | Supported |
| ovary | ovarian stroma cells | Low | Supported |
| pancreas | exocrine glandular cells | Medium | Supported |
| pancreas | pancreatic endocrine cells | Medium | Supported |
| parathyroid gland | glandular cells | Medium | Supported |
| placenta | decidual cells | Low | Supported |
| placenta | trophoblastic cells | Low | Supported |
| prostate | glandular cells | High | Supported |
| rectum | glandular cells | Medium | Supported |
| salivary gland | glandular cells | Medium | Supported |
| seminal vesicle | glandular cells | High | Supported |
| skeletal muscle | myocytes | Medium | Supported |
| skin 1 | keratinocytes | Low | Supported |
| skin 2 | epidermal cells | Low | Supported |
| small intestine | glandular cells | Medium | Supported |
| smooth muscle | smooth muscle cells | Low | Supported |
| soft tissue 1 | fibroblasts | Low | Supported |
| soft tissue 2 | fibroblasts | Low | Supported |
| spleen | cells in red pulp | High | Supported |
| spleen | cells in white pulp | Medium | Supported |
| stomach 1 | glandular cells | Medium | Supported |
| stomach 2 | glandular cells | Medium | Supported |
| testis | Leydig cells | High | Supported |
| testis | sertoli cells | Medium | Supported |
| thyroid gland | glandular cells | High | Supported |
| urinary bladder | urothelial cells | High | Supported |
| vagina | squamous epithelial cells | Low | Supported |
| Disease name | MONDO ID
|
ICD10
|
ICD10 chapter
|
OMIM
|
Orphanet
|
|---|---|---|---|---|---|
| keloid formation | MONDO:0007847 | L91 | chapter12, Diseases of the skin and subcutaneous tissue | OMIM:148100 | |
| spinal muscular atrophy-progressive myoclonic epilepsy syndrome | MONDO:0008045 | G25 | chapter6, Diseases of the nervous system | OMIM:159950 | Orphanet:2590 |
| arthrogryposis | MONDO:0008779 | Q68 | chapter17, Congenital malformations, deformations and chromosomal abnormalities | ||
| farber lipogranulomatosis | MONDO:0009218 | E75 | chapter4, Endocrine, nutritional and metabolic diseases | OMIM:228000 | Orphanet:333 |
| arthrogryposis multiplex congenita | MONDO:0015168 | Q74 | chapter17, Congenital malformations, deformations and chromosomal abnormalities | OMIMPS:617468 | Orphanet:1037 |