ASAH1

N-acylsphingosine amidohydrolase (acid ceramidase) 1
Identifiers
Symbols	ASAH1 ; AC; ASAH; FLJ21558; FLJ22079; PHP; PHP32
External IDs	Template:OMIM5 Template:MGI HomoloGene: 10504
Gene ontology Molecular function Template:GNF GO Template:GNF GO Template:GNF GO Cellular component Template:GNF GO Biological process Template:GNF GO Template:GNF GO Template:GNF GO
RNA expression pattern
More reference expression data
Orthologs
Template:GNF Ortholog box
Species	Human	Mouse
Entrez	n/a	n/a
Ensembl	n/a	n/a
UniProt	n/a	n/a
RefSeq (mRNA)	n/a	n/a
RefSeq (protein)	n/a	n/a
Location (UCSC)	n/a	n/a
PubMed search	n/a	n/a

N-acylsphingosine amidohydrolase (acid ceramidase) 1, also known as ASAH1, is a human gene.

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. Two transcript variants encoding distinct isoforms have been identified for this gene.

Further reading

• Perry DK, Hannun YA (1999). "The role of ceramide in cell signaling". Biochim. Biophys. Acta. 1436 (1–2): 233–43. PMID 9838138.
• Bernardo K, Hurwitz R, Zenk T; et al. (1995). "Purification, characterization, and biosynthesis of human acid ceramidase". J. Biol. Chem. 270 (19): 11098–102. PMID 7744740.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Maruyama K, Sugano S (1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene. 138 (1–2): 171–4. PMID 8125298.
• Koch J, Gärtner S, Li CM; et al. (1997). "Molecular cloning and characterization of a full-length complementary DNA encoding human acid ceramidase. Identification Of the first molecular lesion causing Farber disease". J. Biol. Chem. 271 (51): 33110–5. PMID 8955159.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K; et al. (1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene. 200 (1–2): 149–56. PMID 9373149.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Li CM, Park JH, He X; et al. (2000). "The human acid ceramidase gene (ASAH): structure, chromosomal location, mutation analysis, and expression". Genomics. 62 (2): 223–31. doi:10.1006/geno.1999.5940. PMID 10610716.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Seelan RS, Qian C, Yokomizo A; et al. (2000). "Human acid ceramidase is overexpressed but not mutated in prostate cancer". Genes Chromosomes Cancer. 29 (2): 137–46. PMID 10959093.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Strelow A, Bernardo K, Adam-Klages S; et al. (2000). "Overexpression of acid ceramidase protects from tumor necrosis factor-induced cell death". J. Exp. Med. 192 (5): 601–12. PMID 10974027.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Bär J, Linke T, Ferlinz K; et al. (2001). "Molecular analysis of acid ceramidase deficiency in patients with Farber disease". Hum. Mutat. 17 (3): 199–209. doi:10.1002/humu.5. PMID 11241842.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Ferlinz K, Kopal G, Bernardo K; et al. (2001). "Human acid ceramidase: processing, glycosylation, and lysosomal targeting". J. Biol. Chem. 276 (38): 35352–60. doi:10.1074/jbc.M103066200. PMID 11451951.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Strausberg RL, Feingold EA, Grouse LH; et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMID 12477932.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Muramatsu T, Sakai N, Yanagihara I; et al. (2003). "Mutation analysis of the acid ceramidase gene in Japanese patients with Farber disease". J. Inherit. Metab. Dis. 25 (7): 585–92. PMID 12638942.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Zhang H, Li XJ, Martin DB, Aebersold R (2003). "Identification and quantification of N-linked glycoproteins using hydrazide chemistry, stable isotope labeling and mass spectrometry". Nat. Biotechnol. 21 (6): 660–6. doi:10.1038/nbt827. PMID 12754519.CS1 maint: Multiple names: authors list (link)
• Okino N, He X, Gatt S; et al. (2003). "The reverse activity of human acid ceramidase". J. Biol. Chem. 278 (32): 29948–53. doi:10.1074/jbc.M303310200. PMID 12764132.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• He X, Okino N, Dhami R; et al. (2003). "Purification and characterization of recombinant, human acid ceramidase. Catalytic reactions and interactions with acid sphingomyelinase". J. Biol. Chem. 278 (35): 32978–86. doi:10.1074/jbc.M301936200. PMID 12815059.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Ota T, Suzuki Y, Nishikawa T; et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Hara S, Nakashima S, Kiyono T; et al. (2005). "p53-Independent ceramide formation in human glioma cells during gamma-radiation-induced apoptosis". Cell Death Differ. 11 (8): 853–61. doi:10.1038/sj.cdd.4401428. PMID 15088070.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Gerhard DS, Wagner L, Feingold EA; et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMID 15489334.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Lewandrowski U, Moebius J, Walter U, Sickmann A (2006). "Elucidation of N-glycosylation sites on human platelet proteins: a glycoproteomic approach". Mol. Cell Proteomics. 5 (2): 226–33. doi:10.1074/mcp.M500324-MCP200. PMID 16263699.CS1 maint: Multiple names: authors list (link)