| RareLSD_Id | 1007 |
| ENZYME | N-acetylsphingosine amidohydrolase (acid ceramidas... |
| GENE | ASAH1 |
| E.C.NUMBER | 3.5.1.23 |
| FAMILY | Acid ceramidase |
| CYTOGENETICS | 8p22 |
| DISEASE | Farber lipogranulomatosis |
| SNP | rs137853596,rs137853593,rs137853594,rs137853595,rs137853597 |
| DEPOSIT | Ceramide and cholesterol |
| REF | 23707712, 22565078, 23707712 |
| TEMP (in Celsius) | 37 |
| pI | 8.7 |
| pH | 4.5 |
| Catalytic Nucleophile | Cys143 |
Catalytic Acid/Base
| Arg159/bound H2O |
| Substrate | C120ceramide + H2O |
| Product | laurate + sphingosine |
| Structure(PDB/Phyre2_ID) | 5U7Z |
| kM | 0.1338 |
| DRUG | NA |
| SEQ LENGTH | 395 |
| AA SEQ | MPGRSCVALVLLAAAVSCAVAQHAPPWTEDCRKSTYPPSGPTYRGAVPWYTINLDLPPYKRWHELMLDKAPVLKVIVNSLKNMINTFVPSGKIMQVVDEKLPGLLGNFPGPFEEEMKGIAAVTDIPLGEIISFNIFYELFTICTSIVAEDKKGHLIHGRNMDFGVFLGWNINNDTWVITEQLKPLTVNLDFQRNNKTVFKASSFAGYVGMLTGFKPGLFSLTLNERFSINGGYLGILEWILGKKDVMWIGFTRTVLENSTSYEEAKNLLTKTKILAPAYFILGGNQSGEGCVITRDRKESLDVYELDAKQGRWYVVQTNYDRWKHPFFLDDRRTPAKMCLNRTSQENISFETMYDVLSTKPVLNKLTVYTTLIDVTKGQFETYLRDCPDPCIGW |
| MODIFICATION | N-linked Glycosylation:Asn173,Asn195,Asn259,Asn286,Asn342Asn348 Ubiquitition:Lys92 |
| INHIBITOR | (1S, 2R)Derythro2(Nmyristoylamino)1-phenyl1propanol,LCL521,Mg2+,Mn2+,N[(2S,3R)1,3-dihydroxyoctadecan2yl]2,2-dibromoacetamide,N[(2S,3R)1,3-dihydroxyoctadecan2yl]2-bromoacetamide,N[(2S,3R)1,3-dihydroxyoctadecan2yl]2-methylacrylamide,N[(2S,3R)1,3-dihydroxyoctadecan2yl]acrylamide |
| ACTIVE SITE RESIDUE | Cys137,Asp156,Arg153 |
| DISULPHIDE BRIDGES | *388-392 ,*31-40 |
| PSEUDOGENES | NA |
| MISCELLANEOUS | Requirement of saposinD (for full aCDase activity ) hydrophobicity of this co-factor increases with decreasing pH[lysosomal pH] |
| PARALOGS | NAAA |
| MECHANISM | Hydrolysis of the amide bond of ceramides |
| INHERITANCE PATTERN | Autosomal recessive |
| ORGAN AFFECTED | Eye,Liver, Spleen,Skin,Bones,Nervous System |
| ENZYME LOCATION | NMBH |
| UniProt ID | Q13510 |
