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 |