Welcome to Entry Card of Lysosomal Enzymes
Details of RareLSD ID 1003 |
| RareLSD_Id | 1003 |
| ENZYME | Alpha L-iduronidase |
| GENE | IDUA |
| E.C.NUMBER | 3.2.1.76 |
| FAMILY | GH39 |
| CYTOGENETICS | 4p16.3 |
| DISEASE | MPS type I (Hurler and Scheie syndromes) |
| SNP | VAR_0033754,VAR_0209834,VAR_0033544,VAR_0662214,VAR_0033744,VAR_0662174,VAR_0209804,VAR_0209784,VAR_0209794,VAR_0033684,rs121965019,rs121965020,rs121965021,rs121965027,rs387906504,rs121965029,rs121965031,rs121965032,rs121965033,rs794726878,rs794727896,rs869025584 |
| DEPOSIT | Glycosaminoglycans (GAG) Heparan sulfate ,Dermatan Sulpahte |
| REF | 12559846, 10735634, 21394825, 7550242, 25256405 |
| TEMP (in Celsius) | 37 |
| pI | NA |
| pH | 3-3.5 |
| Catalytic Nucleophile | Glu299 |
| Catalytic Acid/Base | Glu182 |
| Substrate | 4-methylumbelliferylalpha-L-iduronide + H2O |
| Product | 4-methylumbelliferol + alpha-L-iduronic acid |
| Structure(PDB/Phyre2_ID) | 4OBS |
| kM | 0.031 (pH 4.2, 32°C |
| DRUG | Aldurazyme |
| SEQ LENGTH | 653 |
| AA SEQ | MRPLRPRAALLALLASLLAAPPVAPAEAPHLVHVDAARALWPLRRFWRSTGFCPPLPHSQADQYVLSWDQQLNLAYVGAVPHRGIKQVRTHWLLELVTTRGSTGRGLSYNFTHLDGYLDLLRENQLLPGFELMGSASGHFTDFEDKQQVFEWKDLVSSLARRYIGRYGLAHVSKWNFETWNEPDHHDFDNVSMTMQGFLNYYDACSEGLRAASPALRLGGPGDSFHTPPRSPLSWGLLRHCHDGTNFFTGEAGVRLDYISLHRKGARSSISILEQEKVVAQQIRQLFPKFADTPIYNDEADPLVGWSLPQPWRADVTYAAMVVKVIAQHQNLLLANTTSAFPYALLSNDNAFLSYHPHPFAQRTLTARFQVNNTRPPHVQLLRKPVLTAMGLLALLDEEQLWAEVSQAGTVLDSNHTVGVLASAHRPQGPADAWRAAVLIYASDDTRAHPNRSVAVTLRLRGVPPGPGLVYVTRYLDNGLCSPDGEWRRLGRPVFPTAEQFRRMRAAEDPVAAAPRPLPAGGRLTLRPALRLPSLLLVHVCARPEKPPGQVTRLRALPLTQGQLVLVWSDEHVGSKCLWTYEIQFSQDGKAYTPVSRKPSTFNLFVFSPDTGAVSGSYRVRALDYWARPGPFSDPVPYLEVPVPRGPPSPGNP |
| MODIFICATION | N-linked Glycosylation:Asn372,Asn110,Asn336,Asn415,Asn451, Asn190 |
| INHIBITOR | 2-fluoroalphaLidopyranosyluronic acid,fluoride,EDTA,[(2S,3R,4R)3,4-dihydroxy5oxotetrahydrofuran2yl](hydroxy)acetic acid |
| ACTIVE SITE RESIDUE | Glu182, Glu299 |
| DISULPHIDE BRIDGES | NA |
| PSEUDOGENES | NA |
| MISCELLANEOUS | NA |
| PARALOGS | NA |
| MECHANISM | Double displacement mechanismHydrolysis of unsulfated alpha-L-iduronosidic linkages in Dermatan sulfate |
| INHERITANCE PATTERN | Autosomal recessive |
| ORGAN AFFECTED | Skin, Boness, Head, Liver , Spleen |
| ENZYME LOCATION | NMBH |
| UniProt ID | P35475 |