Welcome to Entry Card of Lysosomal Enzymes
Details of RareLSD ID 1017 |
| RareLSD_Id | 1017 |
| ENZYME | Arylsulphatase B |
| GENE | ARSB |
| E.C.NUMBER | 3.1.6.12 |
| FAMILY | Arylsulphatase |
| CYTOGENETICS | 5q14.1 |
| DISEASE | Mucopolysaccharidosis 6 (MPS6)/MAROTEAUXLAMY SYNDR... |
| SNP | rs2011013431,rs254141,VAR_0190334,VAR_0190204,rs431905493,rs431905493,rs431905494,rs118203942,rs118203943,rs431905495,rs121918181,rs727503809, ARSB c.384_386delCTC |
| DEPOSIT | Dermatan sulfate |
| REF | 15324318 , 1901688 , 4276101 |
| TEMP (in Celsius) | 37 |
| pI | NA |
| pH | 3.5 |
| Catalytic Nucleophile | Cys91 |
| Catalytic Acid/Base | H2O |
| Substrate | chondroitin4sulfate + H2O |
| Product | chondroitin + sulfate |
| Structure(PDB/Phyre2_ID) | 1FSU |
| kM | 0.013 |
| DRUG | Galsulfase,Odiparcil,GLAZYME |
| SEQ LENGTH | 533 |
| AA SEQ | MGPRGAASLPRGPGPRRLLLPVVLPLLLLLLLAPPGSGAGASRPPHLVFLLADDLGWNDVGFHGSRIRTPHLDALAAGGVLLDNYYTQPLCTPSRSQLLTGRYQIRTGLQHQIIWPCQPSCVPLDEKLLPQLLKEAGYTTHMVGKWHLGMYRKECLPTRRGFDTYFGYLLGSEDYYSHERCTLIDALNVTRCALDFRDGEEVATGYKNMYSTNIFTKRAIALITNHPPEKPLFLYLALQSVHEPLQVPEEYLKPYDFIQDKNRHHYAGMVSLMDEAVGNVTAALKSSGLWNNTVFIFSTDNGGQTLAGGNNWPLRGRKWSLWEGGVRGVGFVASPLLKQKGVKNRELIHISDWLPTLVKLARGHTNGTKPLDGFDVWKTISEGSPSPRIELLHNIDPNFVDSSPCPRNSMAPAKDDSSLPEYSAFNTSVHAAIRHGNWKLLTGYPGCGYWFPPPSQYNVSEIPSSDPPTKTLWLFDIDRDPEERHDLSREYPHIVTKLLSRLQFYHKHSVPVYFPAQDPRCDPKATGVWGPWM |
| MODIFICATION | N-linked Glycosylation:Asn188,Asn279,Asn291,Asn366,Asn426,Asn458 |
| INHIBITOR | Ca2+,Cu2+,iodoacetate,K2HPO4,Mg2+,Mn2+,phosphate,ethanol |
| ACTIVE SITE RESIDUE | Asp53,Asp54,Cys91,Arg95,Lys145,His147,His242,Asp300,Asn301,Lys318 |
| DISULPHIDE BRIDGES | *117-521,*121-155,*181-192,*402-447 |
| 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 |
| PARALOGS | ARSF,ARSI,ARSJ,ARSG,ARSA,STS,ARSH,GALNS,ARSE,ARSD |
| MECHANISM | Hydrolysis of the sulfate ester, using FG gemdiol as the catalytic residue |
| INHERITANCE PATTERN | Autosomal recessive |
| ORGAN AFFECTED | Ear,Eye,HEart,Boness,Liver,Spleen,Hair,Head,Nervous System |
| ENZYME LOCATION | NMBH |
| UniProt ID | P15848 |