InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: ASAH1

Summary

InnateDB Protein

IDBP-8955.7

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

ASAH1

Protein Name

N-acylsphingosine amidohydrolase (acid ceramidase) 1

Synonyms

AC; ACDase; ASAH; PHP; PHP32; SMAPME;

Species

Homo sapiens

Ensembl Protein

ENSP00000371152

InnateDB Gene

IDBG-8951 (ASAH1)

Protein Structure

UniProt Annotation

Function

Hydrolyzes the sphingolipid ceramide into sphingosine and free fatty acid.

Subcellular Localization

Lysosome.

Disease Associations

Farber lipogranulomatosis (FL) [MIM:228000]: Sphingolipid disease characterized by subcutaneous lipid-loaded nodules, excruciating pain in the joints and extremities, marked accumulation of ceramide in lysosomes, and death by three years of age. {ECO:0000269PubMed:10610716, ECO:0000269PubMed:10993717, ECO:0000269PubMed:11241842, ECO:0000269PubMed:12638942, ECO:0000269PubMed:16951918, ECO:0000269PubMed:8955159}. Note=The disease is caused by mutations affecting the gene represented in this entry.Spinal muscular atrophy with progressive myoclonic epilepsy (SMAPME) [MIM:159950]: 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. {ECO:0000269PubMed:22703880}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Broadly expressed with highest expression in heart.

Comments

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