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Details of RareLSD ID 1007

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