ASAH1


Summary: This gene encodes a member of the acid ceramidase family of proteins. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed. Processing of this preproprotein generates alpha and beta subunits that heterodimerize to form the mature lysosomal enzyme, which catalyzes the degradation of ceramide into sphingosine and free fatty acid. This enzyme is overexpressed in multiple human cancers and may play a role in cancer progression. Mutations in this gene are associated with the lysosomal storage disorder, Farber lipogranulomatosis, and a neuromuscular disorder, spinal muscular atrophy with progressive myoclonic epilepsy. [provided by RefSeq, Oct 2015].

NameOMIM IDEnsembl IDHGNC IDPHARMGKB IDMap Location
N-acylsphingosine amidohydrolase 1MIM:613468Ensembl:ENSG00000104763HGNC:HGNC:735PA350258p22

GO terms in ASAH1


Term TypeEvidence TypeGO Term IDGO Des.
MFTASGO:0003824catalytic activity
MFIBAGO:0016810hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds
MFIBAGO:0017040N-acylsphingosine amidohydrolase activity
MFTASGO:0017040N-acylsphingosine amidohydrolase activity
MFIEAGO:0102121ceramidase activity
CCTASGO:0005576extracellular region
CCIDAGO:0005615extracellular space
CCTASGO:0043202lysosomal lumen
CCHDAGO:0070062extracellular exosome
CCTASGO:1904724tertiary granule lumen
CCTASGO:1904813ficolin-1-rich granule lumen
BPTASGO:0006672ceramide metabolic process
BPTASGO:0006687glycosphingolipid metabolic process
BPTASGO:0043312neutrophil degranulation

Gene expression in normal tissue: ASAH1

Gene-model tissue-cancer distribution: Bubble Plot

Gene-drug pathway distribution

Pathways in ASAH1


DatabasePathway IDPathway Des.
pidceramide_pathwayCeramide signaling pathway
humancycPWY3DJ-11470sphingosine and sphingosine-1-phosphate metabolism
kegghsa00600Sphingolipid metabolism - Homo sapiens (human)
kegghsa04071Sphingolipid signaling pathway - Homo sapiens (human)
kegghsa04142Lysosome - Homo sapiens (human)
wikipathwaysWP1422Sphingolipid Metabolism
wikipathwaysWP26Signal Transduction of S1P Receptor
reactomeR-HSA-1430728Metabolism
reactomeR-HSA-1660662Glycosphingolipid metabolism
reactomeR-HSA-168249Innate Immune System
reactomeR-HSA-168256Immune System
reactomeR-HSA-428157Sphingolipid metabolism
reactomeR-HSA-556833Metabolism of lipids
reactomeR-HSA-6798695Neutrophil degranulation
biocartaedg1pathwayphospholipids as signalling intermediaries

Gene-Drug: Aster Plot


Drug IDDrug NameModel Num.
iGMDRD353PD03259011

Gene in drug-gene network: Network Plot

Gene-drug targets distribution

Gene Structure: PDB

Models in ASAH1

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