Welcome to Entry Card of Lysosomal Enzymes
Details of RareLSD ID 1053 |
| RareLSD_Id | 1053 |
| ENZYME | N-sulphoglucosamine sulphohydrolase |
| GENE | SGSH |
| E.C.NUMBER | 3.10.1.1 |
| FAMILY | sulphatase |
| CYTOGENETICS | 17q25.3 |
| DISEASE | MPS type IIIA (Sanfilippo syndrome A) |
| SNP | rs1023240782,rs1042267453,rs1046551417,rs1046832,rs104894635 |
| DEPOSIT | heparan sulfate |
| REF | 18407553, 11793481, 15902564 |
| TEMP (in Celsius) | 0 |
| pI | NA |
| pH | NA |
| Catalytic Nucleophile | Cys70 |
| Catalytic Acid/Base | NA |
| Substrate | heparan sulfate + H2O |
| Product | ? + sulfate |
| Structure(PDB/Phyre2_ID) | 4MHX |
| kM | 0.032 - 0.22 |
| DRUG | NA |
| SEQ LENGTH | 502 |
| AA SEQ | MSCPVPACCALLLVLGLCRARPRNALLLLADDGGFESGAYNNSAIATPHLDALARRSLLFRNAFTSVSSCSPSRASLLTGLPQHQNGMYGLHQDVHHFNSFDKVRSLPLLLSQAGVRTGIIGKKHVGPETVYPFDFAYTEENGSVLQVGRNITRIKLLVRKFLQTQDDRPFFLYVAFHDPHRCGHSQPQYGTFCEKFGNGESGMGRIPDWTPQAYDPLDVLVPYFVPNTPAARADLAAQYTTVGRMDQGVGLVLQELRDAGVLNDTLVIFTSDNGIPFPSGRTNLYWPGTAEPLLVSSPEHPKRWGQVSEAYVSLLDLTPTILDWFSIPYPSYAIFGSKTIHLTGRSLLPALEAEPLWATVFGSQSHHEVTMSYPMRSVQHRHFRLVHNLNFKMPFPIDQDFYVSPTFQDLLNRTTAGQPTGWYKDLRHYYYRARWELYDRSRDPHETQNLATDPRFAQLLEMLRDQLAKWQWETHDPWVCAPDGVLEEKLSPQCQPLHNEL |
| MODIFICATION | N-linked Glycosylation:Asn41,Asn142,Asn151,Asn264,Asn413,OXOALANINE,Cys70 |
| INHIBITOR | Cu2+,phosphate,SO42,sulfate |
| ACTIVE SITE RESIDUE | Cys70 |
| DISULPHIDE BRIDGES | *183-194,*481-495 |
| PSEUDOGENES | NA |
| MISCELLANEOUS | NA |
| PARALOGS | NA |
| MECHANISM | N-sulfoD-glucosamine + H2O = D-glucosamine + sulfate |
| INHERITANCE PATTERN | Autosomal recessive |
| ORGAN AFFECTED | HEart,Ear,Eye,Liver,Spleen,Boness,Hair,Nervous System |
| ENZYME LOCATION | NMBH |
| UniProt ID | P51688 |