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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
Acid ceramidase
Summary
- UniProt ID
- Q13510
- Gene Symbol
-
- ASAH1
- ASAH
- Organism
- Homo sapiens (human)
External Links
- GlycoProtDB
- GPDB0011879
- GlyConnect
- GlyGen
- Q13510
- PubChem
- Q13510
- SwissLipids
- The Human Metabolome Database
- HMDBP01084
- The O-GlcNAc Database
- Q13510
- RaftProt
- Q13510
Annotation
- Keyword
-
- 3D-structure
- Alternative splicing
- Cytoplasm
- Direct protein sequencing
- Disease variant
- Disulfide bond
- Epilepsy
- Glycoprotein
- Hydrolase
- Lysosome
- Neurodegeneration
- Nucleus
- Reference proteome
- Secreted
- Signal
- Sphingolipid metabolism
- Gene Ontology (GO)
| GO Term |
|---|
| extracellular space |
| nucleus |
| lysosome |
| extracellular exosome |
| tertiary granule lumen |
| extracellular region |
| lysosomal lumen |
| ficolin-1-rich granule lumen |
Sequence
MPGRSCVALVLLAAAVSCAVAQHAPPWTEDCRKSTYPPSGPTYRGAVPWYTINLDLPPYKRWHELMLDKAPVLKVIVNSLKNMINTFVPSGKIMQVVDEKLPGLLGNFPGPFEEEMKGIAAVTDIPLGEIISFNIFYELFTICTSIVAEDKKGHLIHGRNMDFGVFLGWNINNDTWVITEQLKPLTVNLDFQRNNKTVFKASSFAGYVGMLTGFKPGLFSLTLNERFSINGGYLGILEWILGKKDVMWIGFLTRTVLENSTSYEEAKNLLTKTKILAPAYFILGGNQSGEGCVITRDRKESLDVYELDAKQGRWYVVQTNYDRWKHPFFLDDRRTPAKMCLNRTSQENISFETMYDVLSTKPVLNKLTVYTTLIDVTKGQFETYLRDCPDPCIGW
Glycosylation Sites
Feature
: Glycosylation Site from GlyGen
: Glycosylation Site from UniProt
Pathway
| Pathway Name | Organism |
|---|---|
| Glycosphingolipid catabolism | Homo sapiens |
| Neutrophil degranulation | Homo sapiens |
| Regulation of MITF-M-dependent genes involved in lysosome biogenesis and autophagy | Homo sapiens |
Human Protein Atlas
Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.
Disease
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:0060189 | ileitis | |
| DOID:0050328 | congenital hypothyroidism | |
| DOID:0050439 | Usher syndrome | |
| DOID:0050464 | Farber lipogranulomatosis | |
| DOID:0050841 | focal hand dystonia | |
| DOID:0050902 | medulloblastoma | |
| DOID:0060162 | dentatorubral-pallidoluysian atrophy | |
| DOID:0060180 | colitis | |
| DOID:0060190 | ileocolitis | |
| DOID:0060193 | amyotrophic lateral sclerosis type 1 |
