- ASAH1
N-acylsphingosine amidohydrolase (acid ceramidase) 1, also known as ASAH1, is a human
gene .cite web | title = Entrez Gene: ASAH1 N-acylsphingosine amidohydrolase (acid ceramidase) 1| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=427| accessdate = ]PBB_Summary
section_title =
summary_text = 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 asFarber disease . Two transcript variants encoding distinct isoforms have been identified for this gene.cite web | title = Entrez Gene: ASAH1 N-acylsphingosine amidohydrolase (acid ceramidase) 1| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=427| accessdate = ]References
Further reading
PBB_Further_reading
citations =
*cite journal | author=Perry DK, Hannun YA |title=The role of ceramide in cell signaling. |journal=Biochim. Biophys. Acta |volume=1436 |issue= 1-2 |pages= 233–43 |year= 1999 |pmid= 9838138 |doi=
*cite journal | author=Bernardo K, Hurwitz R, Zenk T, "et al." |title=Purification, characterization, and biosynthesis of human acid ceramidase. |journal=J. Biol. Chem. |volume=270 |issue= 19 |pages= 11098–102 |year= 1995 |pmid= 7744740 |doi=
*cite journal | author=Maruyama K, Sugano S |title=Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides. |journal=Gene |volume=138 |issue= 1-2 |pages= 171–4 |year= 1994 |pmid= 8125298 |doi=
*cite journal | author=Koch J, Gärtner S, Li CM, "et al." |title=Molecular cloning and characterization of a full-length complementary DNA encoding human acid ceramidase. Identification Of the first molecular lesion causing Farber disease. |journal=J. Biol. Chem. |volume=271 |issue= 51 |pages= 33110–5 |year= 1997 |pmid= 8955159 |doi=
*cite journal | author=Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, "et al." |title=Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library. |journal=Gene |volume=200 |issue= 1-2 |pages= 149–56 |year= 1997 |pmid= 9373149 |doi=
*cite journal | author=Li CM, Park JH, He X, "et al." |title=The human acid ceramidase gene (ASAH): structure, chromosomal location, mutation analysis, and expression. |journal=Genomics |volume=62 |issue= 2 |pages= 223–31 |year= 2000 |pmid= 10610716 |doi= 10.1006/geno.1999.5940
*cite journal | author=Seelan RS, Qian C, Yokomizo A, "et al." |title=Human acid ceramidase is overexpressed but not mutated in prostate cancer. |journal=Genes Chromosomes Cancer |volume=29 |issue= 2 |pages= 137–46 |year= 2000 |pmid= 10959093 |doi=
*cite journal | author=Strelow A, Bernardo K, Adam-Klages S, "et al." |title=Overexpression of acid ceramidase protects from tumor necrosis factor-induced cell death. |journal=J. Exp. Med. |volume=192 |issue= 5 |pages= 601–12 |year= 2000 |pmid= 10974027 |doi=
*cite journal | author=Bär J, Linke T, Ferlinz K, "et al." |title=Molecular analysis of acid ceramidase deficiency in patients with Farber disease. |journal=Hum. Mutat. |volume=17 |issue= 3 |pages= 199–209 |year= 2001 |pmid= 11241842 |doi= 10.1002/humu.5
*cite journal | author=Ferlinz K, Kopal G, Bernardo K, "et al." |title=Human acid ceramidase: processing, glycosylation, and lysosomal targeting. |journal=J. Biol. Chem. |volume=276 |issue= 38 |pages= 35352–60 |year= 2001 |pmid= 11451951 |doi= 10.1074/jbc.M103066200
*cite journal | author=Strausberg RL, Feingold EA, Grouse LH, "et al." |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899
*cite journal | author=Muramatsu T, Sakai N, Yanagihara I, "et al." |title=Mutation analysis of the acid ceramidase gene in Japanese patients with Farber disease. |journal=J. Inherit. Metab. Dis. |volume=25 |issue= 7 |pages= 585–92 |year= 2003 |pmid= 12638942 |doi=
*cite journal | author=Zhang H, Li XJ, Martin DB, Aebersold R |title=Identification and quantification of N-linked glycoproteins using hydrazide chemistry, stable isotope labeling and mass spectrometry. |journal=Nat. Biotechnol. |volume=21 |issue= 6 |pages= 660–6 |year= 2003 |pmid= 12754519 |doi= 10.1038/nbt827
*cite journal | author=Okino N, He X, Gatt S, "et al." |title=The reverse activity of human acid ceramidase. |journal=J. Biol. Chem. |volume=278 |issue= 32 |pages= 29948–53 |year= 2003 |pmid= 12764132 |doi= 10.1074/jbc.M303310200
*cite journal | author=He X, Okino N, Dhami R, "et al." |title=Purification and characterization of recombinant, human acid ceramidase. Catalytic reactions and interactions with acid sphingomyelinase. |journal=J. Biol. Chem. |volume=278 |issue= 35 |pages= 32978–86 |year= 2003 |pmid= 12815059 |doi= 10.1074/jbc.M301936200
*cite journal | author=Ota T, Suzuki Y, Nishikawa T, "et al." |title=Complete sequencing and characterization of 21,243 full-length human cDNAs. |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40–5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285
*cite journal | author=Hara S, Nakashima S, Kiyono T, "et al." |title=p53-Independent ceramide formation in human glioma cells during gamma-radiation-induced apoptosis. |journal=Cell Death Differ. |volume=11 |issue= 8 |pages= 853–61 |year= 2005 |pmid= 15088070 |doi= 10.1038/sj.cdd.4401428
*cite journal | author=Gerhard DS, Wagner L, Feingold EA, "et al." |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121–7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504
*cite journal | author=Lewandrowski U, Moebius J, Walter U, Sickmann A |title=Elucidation of N-glycosylation sites on human platelet proteins: a glycoproteomic approach. |journal=Mol. Cell Proteomics |volume=5 |issue= 2 |pages= 226–33 |year= 2006 |pmid= 16263699 |doi= 10.1074/mcp.M500324-MCP200PBB_Controls
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