Welcome to Entry Card of Lysosomal Enzymes


Details of RareLSD ID 1052
RareLSD_Id1052
ENZYMEN-acetylglucosamine-6-sulphatase
GENEGNS
E.C.NUMBER3.1.6.14
FAMILYsulfatase
CYTOGENETICS12q14.3
DISEASEMucopolysaccharidosis, Type Iiid
SNPrs483352900,rs119461974,rs119461975,rs483352899,rs119461974,rs119461975,rs483352899,rs483352900,rs483352898
DEPOSITheparan sulfate and keratan sulfate
REF12573255, 6450420,  19650410
TEMP (in Celsius)37
pI8.6
pH4.2 -6
Catalytic NucleophileCys91
Catalytic Acid/Base
NA
SubstrateNacetylD-glucosamine 6sulfate units + H2O
ProductN-acetylD-glucosamine units + sulfate
Structure(PDB/Phyre2_ID)5G2V
kM13
DRUGGenistein sodium salt dihydrate
SEQ LENGTH552
AA SEQMRLLPLAPGRLRRGSPRHLPSCSPALLLLVLGGCLGVFGVAAGTRRPNVVLLLTDDQDEVLGGMTPLKKTKALIGEMGMTFSSAYVPSACCPSRASILTGKYPHNHHVVNNTLEGNCSSKSWQKIQEPNTFPAILRSMCGYQTFFAGKYLNEYGAPDAGGLEHVPLGWSYWYALEKNKYYNYTLSINGKARKHGENYSVDYLTDVLANVSLDFLDYKSNFEPFFMMIATPAPHSPWTAAPQYQKAFQNVFAPRNKNFNIHGTNKHWLIRQAKTPMTNSSIQFLDNAFRKRWQTLLSVDDLVEKLVKRLEFTGELNNTYIFYTSDNGYHTGQFSLPIDKRQLYEFDIKVPLLVRGPGIKPNQTSKMLVANIDLGPTILDIAGYDLNKTQMDGMSLLPILRGASNLTWRSDVLVEYQGEGRNVTDPTCPSLSPGVSQCFPDCVCEDAYNNTYACVRTMSALWNLQYCEFDDQEVFVEVYNLTADPDQITNIAKTIDPELLGKMNYRLMMLQSCSGPTCRTPGVFDPGYRFDPRLMFSNRGSVRTRRFSKHLL
MODIFICATIONN-linked Glycosylation:Asn111,Asn117,Asn183,Asn198,Asn210,Asn279,Asn317,Asn362,Asn387,Asn405,Asn422,Asn449,Asn480,Ubiquitition:Lys125,Phosphorylation:Ser541
INHIBITORbovine serum albumin,CN,Hg2+,Cl,PO43,S2O32,SO32,SO42
ACTIVE SITE RESIDUECys91
DISULPHIDE BRIDGESNA
PSEUDOGENESNA
MISCELLANEOUSconversion 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
PARALOGSSULF1,SULF2
MECHANISMHydrolysis of the 6-sulfate groups of the N-acetylD-glucosamine 6-sulfate units of heparan sulfate and keratan sulfate
INHERITANCE PATTERNAutosomal recessive
ORGAN AFFECTEDHead,Nose,Boness,Skin,Ear,Eye,Liver,Lungs,Hair,Spleen,Nervous System,HEart
ENZYME LOCATIONNMBH
UniProt IDP15586