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Details of RareLSD ID 1046
RareLSD_Id1046
ENZYMEIduronate 2 sulphatase
GENEIDS
E.C.NUMBER3.1.6.13
FAMILYSulfatase
CYTOGENETICSXq28
DISEASEMPS type II (Hunter syndrome)
SNPrs104894853,rs104894856,rs104894860,rs104894861,rs199422227,rs199422228
DEPOSITDermatan sulfate, heparan sulfate and heparin
REF1303211, 8281149, 7981716
TEMP (in Celsius)37
pI6.03
pH3.9 - 5.7
Catalytic NucleophileFGly69
Catalytic Acid/Base
NA
Substrate4-methylumbelliferylalphaidurote 2-sulfate + H2O
Product4-methylumbelliferylalphaidurote + sulfate
Structure(PDB/Phyre2_ID)5FQL
kM0.0192
DRUGIdursulfase,ELAPRASE
SEQ LENGTH550
AA SEQMPPPRTGRGLLWLGLVLSSVCVALGSETQANSTTDALNVLLIIVDDLRPSLGCYGDKLVRSPNIDQLASHSLLFQNAFAQQAVCAPSRVSFLTGRRPDTTRLYDFNSYWRVHAGNFSTIPQYFKENGYVTMSVGKVFHPG ISSNHTDDSPYSWSFPPYHPSSEKYENTKTCRGPDGELHANLLCPVDVLDVPEGTLPDKQSTEQAIQLLEKMKTSASPFFLAVGYHKPHIPFRYPKEFQKLYPLENITLAPDPEVPDGLPPVAYNPWMDIRQREDVQALNSVPYGPIPVDFQRKIRQSYFASVSYLDTQVGRLLSALDDLQLANSTIIAFTSDHGWALGEHGEWAKYSNFDVATHVPLIFYVPGRTASLPEAGEKLFPYLDPFDSASQLMEPGRQSMDLVELVSLFPTLAGLAGLQVPPRCPVPSFHVELCREGKNLLKHFRFRDLEEDPYLPGNPRELIAYSQYPRPSDIPQWNSDKPSLKDIKIMGYSIRTIDYRYTWVGFNPDEFLANFSDIHAGELYFVDSDPLQDHNMYNDSQGGDLFQLLMP
MODIFICATIONN-linked Glycosylation:Asn115,Asn144,Asn246,Asn280,Asn325,Asn513,Asn537
INHIBITORCd2+,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 RESIDUECys84,His138
DISULPHIDE BRIDGESNA
PSEUDOGENESPGOHUM00000242070
MISCELLANEOUSFGly formation occurs posttranslationally by the oxidation of a cysteine residue that is conserved in all eukaryotic sulphatases as well as in most prokaryotic sulfatases
PARALOGSARSK
MECHANISMHydrolysis of the 2sulfate groups of the Lidurote 2sulfate units of dermatan sulfate,heparan sulfate and heparin
INHERITANCE PATTERNX-linked recessive
ORGAN AFFECTEDKidney,Head,Nose,Boness,Skin,Teeth,,Liver,Lungs,Hair,Spleen,Nervous System
ENZYME LOCATIONNMBH
UniProt IDP22304