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acid ceramidase; acylsphingosine deacylase; N-acylsphingosine amidohydrolase; AC; 32 kD heart protein; PHP32 [Contains: acid ceramidase subunit alpha; acid ceramidase subunit beta] (ASAH1, ASAH)
Function:
- hydrolyzes the sphingolipid ceramide into sphingosine + free fatty acid.
N-acylsphingosine + H2O carboxylate + sphingosine
Structure:
1) heterodimer of one alpha & one beta subunit
2) belongs to the acid ceramidase family
Compartment: lysosome
Expression: broadly expressed, highest expression in heart
Pathology:
- defects in ASAH1 are the cause of Farber disease
General
glycoprotein
hydrolase
multisubunit protein
Properties
SIZE: MW = 45 kD
entity length = 395 aa
MOTIF: signal sequence {1-21}
N-glycosylation site {N173}
N-glycosylation site {N195}
N-glycosylation site {N259}
N-glycosylation site {N286}
N-glycosylation site {N342}
N-glycosylation site {N348}
Database Correlations
OMIM 228000
UniProt Q13510
Pfam PF02275
ENZYME 3.5.1.23
References
- UniProt :accession Q13510
- GeneReviews
https://www.genecards.org/cgi-bin/carddisp.pl?gene=ASAH1