| RareLSD_Id | 1009 |
| ENZYME | Acid lipase |
| GENE | LIPA |
| E.C.NUMBER | 3.1.1.13 |
| FAMILY | a/b Hydrolasefold lipase |
| CYTOGENETICS | 10q23.31 |
| DISEASE | Cholesteryl ester storage disease (CESD) |
| SNP | rs267607218,VAR_0042494,VAR_0042484 |
| DEPOSIT | cholesteryl esters antriglycerides |
| REF | 9633819 |
| TEMP (in Celsius) | 25 |
| pI | 7.7 |
| pH | 5 |
| Catalytic Nucleophile | Ser153 |
Catalytic Acid/Base
| His353/Asp326 |
| Substrate | triacylglycerol + H2O |
| Product | diacylglycerol + a carboxylate |
| Structure(PDB/Phyre2_ID) | 3JW8 |
| kM | NA |
| DRUG | NA |
| SEQ LENGTH | 399 |
| AA SEQ | MKMRFLGLVVCLVLWTLHSEGSGGKLTAVDPETNMNVSEIISYWGFPSEEYLVETEDGYILCLNRIPHGRKNHSDKGPKPVVFLQHGLLADSSNWVTNLANSSLGFILADAGFDVWMGNSRGNTWSRKHKTLSVSQDEFWAFSYDEMAKYDLPASINFILNKTGQEQVYYVGHSQGTTIGFIAFSQIPELAKRIKMFFALGPVASVAFCTSPMAKLGRLPDHLIKDLFGDKEFLPQSAFLKWLGTHVCTHVILKELCGNLCFLLCGFNERNLNMSRVDVYTTHSPAGTSVQNMLHWSQAVKFQKFQAFDWGSSAKNYFHYNQSYPPTYNVKDMLVPTAVWSGGHDWLADVYDVNILLTQITNLVFHESIPEWEHLDFIWGLDAPWRLYNKIINLMRKYQ |
| MODIFICATION | N-linked Glycosylation:Asn36,Asn72,Asn101,Asn161,Asn273,Asn321,Ubiquitition:Lys304 |
| INHIBITOR | 2hexadecenoic acid,aurantiamide,Bile salts,cnidiadin,sodium taurodeoxycholate |
| ACTIVE SITE RESIDUE | Ser176,Asp347,His376 |
| DISULPHIDE BRIDGES | NA |
| PSEUDOGENES | NA |
| MISCELLANEOUS | CATALYTIC TRIAD |
| PARALOGS | LIPN,LIPK,LIPJ,LIPF,LIPM |
| MECHANISM | Crucial for intracellular hydrolysis of cholesteryl esters and triglycerides that have been interlized via receptor-mediated endocytosis of lipoprotein particles |
| INHERITANCE PATTERN | Autosomal recessive |
| ORGAN AFFECTED | Liver, Kidney, Spleen |
| ENZYME LOCATION | NMBH |
| UniProt ID | P38571 |
