6mhm
From Proteopedia
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<tr id='resources'><td class="sblockLbl"><b>Resources:</b></td><td class="sblockDat"><span class='plainlinks'>[https://proteopedia.org/fgij/fg.htm?mol=6mhm FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=6mhm OCA], [https://pdbe.org/6mhm PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=6mhm RCSB], [https://www.ebi.ac.uk/pdbsum/6mhm PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=6mhm ProSAT]</span></td></tr> | <tr id='resources'><td class="sblockLbl"><b>Resources:</b></td><td class="sblockDat"><span class='plainlinks'>[https://proteopedia.org/fgij/fg.htm?mol=6mhm FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=6mhm OCA], [https://pdbe.org/6mhm PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=6mhm RCSB], [https://www.ebi.ac.uk/pdbsum/6mhm PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=6mhm ProSAT]</span></td></tr> | ||
</table> | </table> | ||
| - | == Disease == | ||
| - | [https://www.uniprot.org/uniprot/ASAH1_HUMAN ASAH1_HUMAN] Farber disease;Spinal muscular atrophy-progressive myoclonic epilepsy syndrome. The disease is caused by mutations affecting the gene represented in this entry. The disease is caused by mutations affecting the gene represented in this entry. | ||
| - | == Function == | ||
| - | [https://www.uniprot.org/uniprot/ASAH1_HUMAN ASAH1_HUMAN] Lysosomal ceramidase that hydrolyzes sphingolipid ceramides into sphingosine and free fatty acids at acidic pH (PubMed:10610716, PubMed:7744740, PubMed:15655246, PubMed:11451951). Ceramides, sphingosine, and its phosphorylated form sphingosine-1-phosphate are bioactive lipids that mediate cellular signaling pathways regulating several biological processes including cell proliferation, apoptosis and differentiation (PubMed:10610716). Has a higher catalytic efficiency towards C12-ceramides versus other ceramides (PubMed:7744740, PubMed:15655246). Also catalyzes the reverse reaction allowing the synthesis of ceramides from fatty acids and sphingosine (PubMed:12764132, PubMed:12815059). For the reverse synthetic reaction, the natural sphingosine D-erythro isomer is more efficiently utilized as a substrate compared to D-erythro-dihydrosphingosine and D-erythro-phytosphingosine, while the fatty acids with chain lengths of 12 or 14 carbons are the most efficiently used (PubMed:12764132). Has also an N-acylethanolamine hydrolase activity (PubMed:15655246). By regulating the levels of ceramides, sphingosine and sphingosine-1-phosphate in the epidermis, mediates the calcium-induced differentiation of epidermal keratinocytes (PubMed:17713573). Also indirectly regulates tumor necrosis factor/TNF-induced apoptosis (By similarity). By regulating the intracellular balance between ceramides and sphingosine, in adrenocortical cells, probably also acts as a regulator of steroidogenesis (PubMed:22261821).[UniProtKB:Q9WV54]<ref>PMID:10610716</ref> <ref>PMID:11451951</ref> <ref>PMID:12764132</ref> <ref>PMID:12815059</ref> <ref>PMID:15655246</ref> <ref>PMID:17713573</ref> <ref>PMID:22261821</ref> <ref>PMID:7744740</ref> <ref>PMID:10610716</ref> Isoform 2: May directly regulate steroidogenesis by binding the nuclear receptor NR5A1 and negatively regulating its transcriptional activity.<ref>PMID:22927646</ref> | ||
<div style="background-color:#fffaf0;"> | <div style="background-color:#fffaf0;"> | ||
== Publication Abstract from PubMed == | == Publication Abstract from PubMed == | ||
Current revision
Crystal structure of human acid ceramidase in covalent complex with carmofur
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