Welcome to Entry Card of Lysosomal Enzymes
Details of RareLSD ID 1018 |
| RareLSD_Id | 1018 |
| ENZYME | Arylsulphatase G |
| GENE | ARSG |
| E.C.NUMBER | 3.1.6.- |
| FAMILY | Arylsulphatase |
| CYTOGENETICS | 17q24.2 |
| DISEASE | scotoma |
| SNP | rs1000021650,rs1000022114,rs1000031048,rs100004771,rs1000054925 |
| DEPOSIT | sulfated glycosaminoglycans and glycolipids |
| REF | 12461688 , 18283100 , 25825126 |
| TEMP (in Celsius) | 45 |
| pI | NA |
| pH | 5.4 |
| Catalytic Nucleophile | NA |
| Catalytic Acid/Base | NA |
| Substrate | 4nitrocatechol sulfate + H2O |
| Product | 4nitrocatechol + sulfate |
| Structure(PDB/Phyre2_ID) | Q96EG1 |
| kM | 4.2 |
| DRUG | NA |
| SEQ LENGTH | 525 |
| AA SEQ | MGWLFLKVLLAGVSFSGFLYPLVDFCISGKTRGQKPNFVIILADDMGWGDLGANWAETKDTANLDKMASEGMRFVDFHAAASTCSPSRASLLTGRLGLRNGVTRNFAVTSVGGLPLNETTLAEVLQQAGYVTGIIGKWHLGHHGSYHPNFRGFDYYFGIPYSHDMGCTDTPGYNHPPCPACPQGDGPSRNLQRDCYTDVALPLYENLNIVEQPVNLSSLAQKYAEKATQFIQRASTSGRPFLLYVALAHMHVPLPVTQLPAAPRGRSLYGAGLWEMDSLVGQIKDKVDHTVKENTFLWFTGDNGPWAQKCELAGSVGPFTGFWQTRQGGSPAKQTTWEGGHRVPALAYWPGRVPVNVTSTALLSVLDIFPTVVALAQASLPQGRRFDGVDVSEVLFGRSQPGHRVLFHPNSGAAGEFGALQTVRLERYKAFYITGGARACDGSTGPELQHKFPLIFNLEDDTAEAVPLERGGAEYQAVLPEVRKVLADVLQDIANDNISSADYTQDPSVTPCCNPYQIACRCQAA |
| MODIFICATION | N-linked Glycosylation:Asn117,Asn215,Asn356,Asn497 |
| INHIBITOR | phosphate,sulfate,warfarin |
| ACTIVE SITE RESIDUE | Cys84,His139 |
| DISULPHIDE BRIDGES | NA |
| PSEUDOGENES | NA |
| MISCELLANEOUS | Conversion to 3-oxoalanine (also known as C-formylglycine, FGly), of a serine or cysteine residue in prokaryotes and of a cysteine residue in eukaryotes, is critical for catalytic activity, *ARSG,CEP112,ARSG,TEX2{GENE FUSION} |
| PARALOGS | ARSF,ARSI,ARSJ,ARSA,STS,ARSH,GALNS,ARSE,ARSB,ARSD |
| MECHANISM | Hydrolysis of the sulfate ester, using FG gemdiol as the catalytic residue |
| INHERITANCE PATTERN | Autosomal recessive |
| ORGAN AFFECTED | Eye |
| ENZYME LOCATION | OD |
| UniProt ID | Q96EG1 |