Entity Details

Primary name ASAH1_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ13510
EntryNameASAH1_HUMAN
FullNameAcid ceramidase
TaxID9606
Evidenceevidence at protein level
Length395
SequenceStatuscomplete
DateCreated1998-07-15
DateModified2021-06-02

Ontological Relatives

GenesASAH1

GO terms

Show/Hide Table
GOName
GO:0003714 transcription corepressor activity
GO:0005576 extracellular region
GO:0005615 extracellular space
GO:0005634 nucleus
GO:0005764 lysosome
GO:0006631 fatty acid metabolic process
GO:0006687 glycosphingolipid metabolic process
GO:0016810 hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds
GO:0016811 hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides
GO:0016922 nuclear receptor binding
GO:0017040 N-acylsphingosine amidohydrolase activity
GO:0017064 fatty acid amide hydrolase activity
GO:0030216 keratinocyte differentiation
GO:0043202 lysosomal lumen
GO:0043312 neutrophil degranulation
GO:0046512 sphingosine biosynthetic process
GO:0046513 ceramide biosynthetic process
GO:0046514 ceramide catabolic process
GO:0050810 regulation of steroid biosynthetic process
GO:0062098 regulation of programmed necrotic cell death
GO:0070062 extracellular exosome
GO:0071356 cellular response to tumor necrosis factor
GO:0102121 ceramidase activity
GO:1903507 negative regulation of nucleic acid-templated transcription
GO:1904724 tertiary granule lumen
GO:1904813 ficolin-1-rich granule lumen

Subcellular Location

Show/Hide Table
Subcellular Location
Cytoplasm
Lysosome
Nucleus
Secreted

Domains

Show/Hide Table
DomainNameCategoryType
IPR016699 Acid ceramidase-likeFamilyFamily
IPR029130 Acid ceramidase, N-terminalDomainDomain
IPR029132 Choloylglycine hydrolase/NAAA C-terminalDomainDomain

Diseases

Show/Hide Table
Disease IDSourceNameDescription
159950 OMIMSpinal muscular atrophy with progressive myoclonic epilepsy (SMAPME)An autosomal recessive neuromuscular disorder characterized by childhood onset of motor deficits and progressive myoclonic seizures, after normal developmental milestones. Proximal muscle weakness and generalized muscular atrophy are due to degeneration of spinal motor neurons. Myoclonic epilepsy is generally resistant to conventional therapy. The disease course is progressive and leads to respiratory muscle involvement and severe handicap or early death from respiratory insufficiency. The disease is caused by variants affecting the gene represented in this entry.
228000 OMIMFarber lipogranulomatosis (FRBRL)An autosomal recessive lysosomal storage disorder characterized by subcutaneous lipid-loaded nodules, excruciating pain in the joints and extremities, and marked accumulation of ceramide in lysosomes. Disease severity is variable. The most severe disease subtype is a rare neonatal form with death occurring before 1 year of age. The disease is caused by variants affecting the gene represented in this entry.

Interactions

7 interactions