Details of RareLSD ID 1046 |
RareLSD_Id | 1046 |
ENZYME | Iduronate 2 sulphatase |
GENE | IDS |
E.C.NUMBER | 3.1.6.13 |
FAMILY | Sulfatase |
CYTOGENETICS | Xq28 |
DISEASE | MPS type II (Hunter syndrome) |
SNP | rs104894853,rs104894856,rs104894860,rs104894861,rs199422227,rs199422228 |
DEPOSIT | Dermatan sulfate, heparan sulfate and heparin |
REF | 1303211, 8281149, 7981716 |
TEMP (in Celsius) | 37 |
pI | 6.03 |
pH | 3.9 - 5.7 |
Catalytic Nucleophile | FGly69 |
Catalytic Acid/Base | NA |
Substrate | 4-methylumbelliferylalphaidurote 2-sulfate + H2O |
Product | 4-methylumbelliferylalphaidurote + sulfate |
Structure(PDB/Phyre2_ID) | 5FQL |
kM | 0.0192 |
DRUG | Idursulfase,ELAPRASE |
SEQ LENGTH | 550 |
AA SEQ | MPPPRTGRGLLWLGLVLSSVCVALGSETQANSTTDALNVLLIIVDDLRPSLGCYGDKLVRSPNIDQLASHSLLFQNAFAQQAVCAPSRVSFLTGRRPDTTRLYDFNSYWRVHAGNFSTIPQYFKENGYVTMSVGKVFHPG ISSNHTDDSPYSWSFPPYHPSSEKYENTKTCRGPDGELHANLLCPVDVLDVPEGTLPDKQSTEQAIQLLEKMKTSASPFFLAVGYHKPHIPFRYPKEFQKLYPLENITLAPDPEVPDGLPPVAYNPWMDIRQREDVQALNSVPYGPIPVDFQRKIRQSYFASVSYLDTQVGRLLSALDDLQLANSTIIAFTSDHGWALGEHGEWAKYSNFDVATHVPLIFYVPGRTASLPEAGEKLFPYLDPFDSASQLMEPGRQSMDLVELVSLFPTLAGLAGLQVPPRCPVPSFHVELCREGKNLLKHFRFRDLEEDPYLPGNPRELIAYSQYPRPSDIPQWNSDKPSLKDIKIMGYSIRTIDYRYTWVGFNPDEFLANFSDIHAGELYFVDSDPLQDHNMYNDSQGGDLFQLLMP |
MODIFICATION | N-linked Glycosylation:Asn115,Asn144,Asn246,Asn280,Asn325,Asn513,Asn537 |
INHIBITOR | Cd2+,chondroitin 4-sulfate,chondroitin 6-sulfate,citrate,Cl,Cu2+,Fe3+,Hg2+,heparan sulfate,O-(alphaLidopyranosyluronic acid 2-sulfate)(14)2,5anhydro-D-mannitol;6-sulfate,Zn2+,phosphate Phenolphthalein disulfate,O-(alpha-L-idopyranosyluronic acid(14)2,5anhydro-D-mannitol 6-sulfate;Cl |
ACTIVE SITE RESIDUE | Cys84,His138 |
DISULPHIDE BRIDGES | NA |
PSEUDOGENES | PGOHUM00000242070 |
MISCELLANEOUS | FGly formation occurs posttranslationally by the oxidation of a cysteine residue that is conserved in all eukaryotic sulphatases as well as in most prokaryotic sulfatases |
PARALOGS | ARSK |
MECHANISM | Hydrolysis of the 2sulfate groups of the Lidurote 2sulfate units of dermatan sulfate,heparan sulfate and heparin |
INHERITANCE PATTERN | X-linked recessive |
ORGAN AFFECTED | Kidney,Head,Nose,Boness,Skin,Teeth,,Liver,Lungs,Hair,Spleen,Nervous System |
ENZYME LOCATION | NMBH |
UniProt ID | P22304 |