Welcome to Entry Card of Lysosomal Enzymes
Details of RareLSD ID 1021 |
| RareLSD_Id | 1021 |
| ENZYME | Beta Hexosaminidase alpha-subunit |
| GENE | HEXA |
| E.C.NUMBER | 3.2.1.52 |
| FAMILY | GH20 |
| CYTOGENETICS | 15q23 |
| DISEASE | GM2gangliosidosis type I (TaySach's disease) |
| SNP | rs1012228669,rs1050913691,rs1057516617 ,rs1057516 |
| DEPOSIT | GM2 gangliosides&molecules containing terminal N-acetyl hexosamines |
| REF | 7898712 , 19858779 , 9603435 |
| TEMP (in Celsius) | 30 |
| pI | NA |
| pH | 4.25 |
| Catalytic Nucleophile | NA |
| Catalytic Acid/Base | Glu |
| Substrate | N-acetylbetaD-hexosaminides + H2O |
| Product | N-acetylD-hexosamines |
| Structure(PDB/Phyre2_ID) | 2GK1 |
| kM | 0.046 |
| DRUG | Acetylleucine |
| SEQ LENGTH | 529 |
| AA SEQ | MTSSRLWFSLLLAAAFAGRATALWPWPQNFQTSDQRYVLYPNNFQFQYDVSSAAQPGCSVLDEAFQRYRDLLFGSGSWPRPYLTGKRHTLEKNVLVVSVVTPGCNQLPTLESVENYTLTINDDQCLLLSETVWGALRGLETFSQLVWKSAEGTFFINKTEIEDFPRFPHRGLLLDTSRHYLPLSSILDTLDVMAYNKLNVFHWHLVDDPSFPYESFTFPELMRKGSYNPVTHIYTAQDVKEVIEYARLRGIRVLAEFDTPGHTLSWGPGIPGLLTPCYSGSEPSGTFGPVNPSLNNTYEFMSTFFLEVSSVFPDFYLHLGGDEVDFTCWKSNPEIQDFMRKKGFGEDFKQLESFYIQTLLDIVSSYGKGYVVWQEVFDNKVKIQPDTIIQVWREDIPVNYMKELELVTKAGFRALLSAPWYLNRISYGPDWKDFYIVEPLAFEGTPEQKALVIGGEACMWGEYVDNTNLVPRLWPRAGAVAERLWSNKLTSDLTFAYERLSHFRCELLRRGVQAQPLNVGFCEQEFEQT |
| MODIFICATION | N-linked Glycosylation:Asn115,Asn157,Asn295,N-linked glycan:Asn115 consists of Man(3)Glcc(2) |
| INHIBITOR | O(2-acetamido2-deoxyD-glucopyranosylidene)amino N-phenylcarbamate,N-[1-(7-aminoheptyl)]2-acetamido1,2,5-trideoxy1,5-iminoD-glucitol,Cu2+,2acetamido1,2dideoxy1,5iminoD-glucitol,Gthiazoline |
| ACTIVE SITE RESIDUE | Glu323 |
| DISULPHIDE BRIDGES | *58-104,*277-328,*505-522 |
| PSEUDOGENES | NA |
| MISCELLANEOUS | NA |
| PARALOGS | HEXB |
| MECHANISM | Neighbouring group participation |
| INHERITANCE PATTERN | Autosomal recessive |
| ORGAN AFFECTED | Nervous System,Lungs,Eye |
| ENZYME LOCATION | NMBH |
| UniProt ID | P06865 |