Welcome to Entry Card of Lysosomal Enzymes
Details of RareLSD ID 1051 |
| RareLSD_Id | 1051 |
| ENZYME | N(4) (beta-acetylglucosaminyl) L-asparaginase |
| GENE | AGA |
| E.C.NUMBER | 3.5.1.26 |
| FAMILY | Ntn-hydrolase |
| CYTOGENETICS | 4q34.3 |
| DISEASE | Aspartylglucosaminuria |
| SNP | rs1054938291,rs1057516565,rs1057517062,rs1057517175,rs1057517223 |
| DEPOSIT | glycoproteins |
| REF | 11309371, 2401370 |
| TEMP (in Celsius) | 37 |
| pI | NA |
| pH | 5.5 -6 |
| Catalytic Nucleophile | Thr206 |
| Catalytic Acid/Base | NA |
| Substrate | L-asparagine + H2O |
| Product | L-aspartate + NH3 |
| Structure(PDB/Phyre2_ID) | 1APY |
| kM | 0.66 |
| DRUG | NA |
| SEQ LENGTH | 346 |
| AA SEQ | MARKSNLPVLLVPFLLCQALVRCSSPLPLVVNTWPFKNATEAAWRALASGGSALDAVESGCAMCEREQCDGSVGFGGSPDELGETTLDAMIMDGTTMDVGAVGDLRRIKNAIGVARKVLEHTTHTLLVGESATTFAQSMGFINEDLSTTASQALHSDWLARNCQPNYWRNVIPDPSKYCGPYKPPGILKQDIPIHKETEDDRGHDTIGMVVIHKTGHIAAGTSTNGIFKIHGRVGDSPIPGAGAYADDTAGAAAATGNGDILMRFLPSYQAVEYMRRGEDPTIACQKVISRIQKHFPEFFGAVICANVTGSYGAACNKSTFTQFSFMVYNSEKNQPTEEKVDCI |
| MODIFICATION | N-linked Glycosylation:Asn38,Asn308 |
| INHIBITOR | 2-mercaptoethanol,3-Hydroxybutanone,3-phosphonoDL2-aminopropionic acid,5-Diazo4oxoLnorvaline,Cu2+,L2-bromosuccinic acid,L2-chlorosuccinic acid,L2-methylsuccinic acid,L-asparagine,L-aspartic acid,L-cysteic acid,Mn2+,N(2-acetamido2-deoxybetaD-glucopyranosyl)bromoacetamide,N-(2-acetamido2-deoxybetaD-glucopyranosyl)chloroacetamide,N-acetylcysteine,N1(2acetamido2deoxybetaD-glucopyranosyl)glycimide,Ni2+,SDS,succinic acid,Zn2+ |
| ACTIVE SITE RESIDUE | Thr206 |
| DISULPHIDE BRIDGES | *64-69,*163-179,*286-306,*317-345 |
| PSEUDOGENES | NA |
| MISCELLANEOUS | NA |
| PARALOGS | ASRGL1,TASP1 |
| MECHANISM | N4(betaNacetylDglucosaminyl)Lasparagine + H2O = NacetylbetaDglucosaminylamine + Laspartate |
| INHERITANCE PATTERN | Autosomal recessive |
| ORGAN AFFECTED | HEart,Muscle,Boness,Nervous System,Lungs,Liver,Eye,Ear,Nose,Head |
| ENZYME LOCATION | OD |
| UniProt ID | P20933 |