Homo sapiens Gene: ASAH1
Summary
InnateDB Gene IDBG-8951.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol ASAH1
Gene Name N-acylsphingosine amidohydrolase (acid ceramidase) 1
Synonyms AC; ACDase; ASAH; PHP; PHP32; SMAPME;
Species Homo sapiens
Ensembl Gene ENSG00000104763
Encoded Proteins
N-acylsphingosine amidohydrolase (acid ceramidase) 1
N-acylsphingosine amidohydrolase (acid ceramidase) 1
N-acylsphingosine amidohydrolase (acid ceramidase) 1
N-acylsphingosine amidohydrolase (acid ceramidase) 1
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene encodes a heterodimeric protein consisting of a nonglycosylated alpha subunit and a glycosylated beta subunit that is cleaved to the mature enzyme posttranslationally. The encoded protein catalyzes the synthesis and degradation of ceramide into sphingosine and fatty acid. Mutations in this gene have been associated with a lysosomal storage disorder known as Farber disease. Multiple transcript variants encoding several distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome 8:18056425-18084985
Strand Reverse strand
Band p22
Transcripts
ENST00000381733 ENSP00000371152
ENST00000314146 ENSP00000326970
ENST00000262097 ENSP00000262097
ENST00000520781 ENSP00000427751
ENST00000519468
ENST00000521542
ENST00000518746
ENST00000523593
ENST00000519545
ENST00000517409
ENST00000523744
ENST00000518087
ENST00000520051
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 11 experimentally validated interaction(s) in this database.
Experimentally validated
Total 11 [view]
Protein-Protein 11 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0003824 catalytic activity
GO:0017040 ceramidase activity
Biological Process
GO:0006629 lipid metabolic process
GO:0006665 sphingolipid metabolic process
GO:0006672 ceramide metabolic process
GO:0006687 glycosphingolipid metabolic process
GO:0008219 cell death
GO:0010033 response to organic substance
GO:0030324 lung development
GO:0044281 small molecule metabolic process
Cellular Component
GO:0005764 lysosome
GO:0043202 lysosomal lumen
GO:0070062 extracellular vesicular exosome
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
REACTOME
Sphingolipid metabolism pathway
Metabolism of lipids and lipoproteins pathway
Glycosphingolipid metabolism pathway
Metabolism pathway
KEGG
Sphingolipid metabolism pathway
Lysosome pathway
INOH
PID BIOCARTA
Phospholipids as signalling intermediaries [Biocarta view]
PID NCI
Ceramide signaling pathway
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.527412 Hs.703729 Hs.738809
RefSeq NM_001127505 NM_004315 NM_177924 XM_005273504
HUGO
OMIM
CCDS CCDS47813 CCDS6005 CCDS6006
HPRD 01969
IMGT
EMBL
GenPept
RNA Seq Atlas