Welcome to Entry Card of Lysosomal Enzymes
Details of RareLSD ID 1005 |
| RareLSD_Id | 1005 |
| ENZYME | N-acetylglucosamine-6-sulphatase |
| GENE | GALNS |
| E.C.NUMBER | 3.1.6.4 |
| FAMILY | Arylsulphatase |
| CYTOGENETICS | 16q24.3 |
| DISEASE | MPS IVA/Morquio A disease |
| SNP | rs1507342701,rs1182044431,rs1485655591,VAR_0248754,VAR_0249154,VAR_0249024,VAR_0072174,VAR_0072114,VAR_0249054,VAR_0072124,,rs118204440,rs118204438,rs118204439,rs118204441,rs118204442,rs118204448,rs118204443,rs118204444,rs118204445,rs118204449,rs118204446,rs118204447,rs267606838,rs398123437,rs398123429,rs398123430,rs2303271,rs372893383,rs11862754,rs398123438,rs398123439 |
| DEPOSIT | Glycosaminoglycans (GAGs) ,keratan sulfate (KS) and chondroitin6sulfate (C6S) |
| REF | 25545067,8434612 , 22940367, 25137622 |
| TEMP (in Celsius) | 37 |
| pI | NA |
| pH | 3.8 -4 |
| Catalytic Nucleophile | Cys |
| Catalytic Acid/Base | NA |
| Substrate | 4-methylumbelliferyl beta-D-galactoside 6-sulfate + H2O |
| Product | 4-methylumbelliferyl beta-D-galactoside + sulfate |
| Structure(PDB/Phyre2_ID) | 4FDJ |
| kM | 4.4 |
| DRUG | NA |
| SEQ LENGTH | 522 |
| AA SEQ | MAAVVAATRWWQLLLVLSAAGMGASGAPQPPNILLLLMDDMGWGDLGVYGEPSRETPNLDRMAAEGLLFPNFYSANPLCSPSRAALLTGRLPIRNGFYTTNAHARNAYTPQEIVGGIPDSEQLLPELLKKAGYVSKIVGKWHLGHRPQFHPLKHGFDEWFGSPNCHFGPYDNKARPNIPVYRDWEMVGRYYEEFPINLKTGEANLTQIYLQEALDFIKRQARHHPFFLYWAVDATHAPVYASKPFLGTSQRGRYGDAVREIDDSIGKILELLQDLHVADNTFVFFTSDNGAALISAPEQGGSNGPFLCGKQTTFEGGMREPALAWWPGHVTAGQVSHQLGSIMDLFTTSLALAGLTPPSDRAIDGLNLLPTLLQGRLMDRPIFYYRGDTLMAATLGQHKAHFWTWTNSWENFRQGIDFCPGQNVSGVTTHNLEDHTKLPLIFHLGRDPGERFPLSFASAEYQEALSRITSVVQQHQEALVPAQPQLNVCNWAVMNWAPPGCEKLGKCLTPPESIPKKCLWSH |
| MODIFICATION | N-linked Glycosylation:Asn204,Asn423 |
| INHIBITOR | 6-Sulfated heptasaccharides,6-Sulfatedpentasaccharides,chondroitin-6sulfate,heparan sulfate,keratan sulfate,Dermatan sulfate,hyaluronic acid,Chondroitin 6-sulfate tetrasaccharide,chondroitin-4-sulfate |
| ACTIVE SITE RESIDUE | Asp39,Asp40,Arg83,Tyr108,Lys140,His142,His236,Asp288,Asn289,Lys310,DHA79 |
| DISULPHIDE BRIDGES | *308-419,*489-518,*501-507 |
| PSEUDOGENES | PGOHUM00000262307 |
| MISCELLANEOUS | Sulfatases require maturation of a side chain residue into a catalytic nucleophile(converts Cys79 into a formylglycine aldehyde[FGly]) |
| PARALOGS | ARSF,ARSI,ARSJ,ARSG,ARSA,STS,ARSH,ARSB,ARSE,ARSD |
| MECHANISM | Cleaves 6-sulfate attached to Gal and Galc saccharides |
| INHERITANCE PATTERN | Autosomal recessive |
| ORGAN AFFECTED | Ear,Head , Face,Teeth |
| ENZYME LOCATION | NMBH |
| UniProt ID | P34059 |