Welcome to Entry Card of Lysosomal Enzymes
Details of RareLSD ID 1012 |
| RareLSD_Id | 1012 |
| ENZYME | Alpha-N-acetylgalactosaminidase |
| GENE | NAGA |
| E.C.NUMBER | 3.2.1.49 |
| FAMILY | GH 27 |
| CYTOGENETICS | 22q13.3 |
| DISEASE | Schindler disease (type I) |
| SNP | rs121434529,rs121434532,rs133369,rs2854827,rs779423223 |
| DEPOSIT | accumulated substance contain sialic acid/galactose terminal saccharides |
| REF | 19683538 |
| TEMP (in Celsius) | 37 |
| pI | 4.85 |
| pH | 4 - 6.8 |
| Catalytic Nucleophile | Asp156 |
| Catalytic Acid/Base | Asp217 |
| Substrate | 4-methylumbelliferyl+alphaD-galactosaminide + H2O |
| Product | 4-methylumbelliferone + alpha-D-galactosamine |
| Structure(PDB/Phyre2_ID) | 3H53 |
| kM | 0.7 |
| DRUG | NA |
| SEQ LENGTH | 411 |
| AA SEQ | MLLKTVLLLGHVAQVLMLDNGLLQTPPMGWLAWERFRCNINCDEDPKNCISEQLFMEMADRMAQDGWRDMGYTYLNIDDCWIGGRDASGRLMPDPKRFPHGIPFLADYVHSLGLKLGIYADMGNFTCMGYPGTTLDKVVQDAQTFAEWKVDMLKLDGCFSTPEERAQGYPKMAAALNATGRPIAFSCSWPAYEGGLPPRVNYSLLADICNLWRNYDDIQDSWWSVLSILNWFVEHQDILQPVAGPGHWNDPDMLLIGNFGLSLEQSRAQMALWTVLAAPLLMSTDLRTISAQNMDILQNPLMIKINQDPLGIQGRRIHKEKSLIEVYMRPLSNKASALVFFSCRTDMPYRYHSSLGQLNFTGSVIYEAQDVYSGDIISGLRDETNFTVIINPSGVVMWYLYPIKNLEMSQQ |
| MODIFICATION | N-linked Glycosylation:Asn124,Asn177,Asn201,Asn359,Asn385,PHOSPHOSERINE:Ser322 ,Ser332 |
| INHIBITOR | Ag+,Ca2+,Cu2+,D-galactose,D-glucose,Hg2+,K+,Mg2+,Mn2+,N-acetyl-D-galactosamine,SDS,Zn2+ |
| ACTIVE SITE RESIDUE | Trp33,Asp78,Asp79,Tyr119,Cys127,Lys154,Asp156,Cys158,Ser188,Ala191,Tyr192,Arg213,Asp217 |
| DISULPHIDE BRIDGES | *38-80,*4249,*127-158,*187-209 |
| PSEUDOGENES | NA |
| MISCELLANEOUS | NA |
| PARALOGS | GLA |
| MECHANISM | Koshland double-displacement mechanism |
| INHERITANCE PATTERN | Autosomal recessive |
| ORGAN AFFECTED | Skin,Hair,Eye,Nervous System,Nose,Ear,Muscle |
| ENZYME LOCATION | NA |
| UniProt ID | P17050 |