| RareLSD_Id | 1041 |
| ENZYME | Glucosylceramidase |
| GENE | GBA |
| E.C.NUMBER | 3.2.1.45 |
| FAMILY | GH30 |
| CYTOGENETICS | 1q22 |
| DISEASE | Gaucher disease Type 1 |
| SNP | rs421016,rs76763715,rs79653797,rs80356769,rs1064651,rs121908302,rs1141811, rs77829017,rs1141814,rs121908312,rs79653797,rs439898 |
| DEPOSIT | glucosylceramide |
| REF | 1070017, 7172089, 5425955, 3927701 |
| TEMP (in Celsius) | 37 |
| pI | NA |
| pH | 4.5 -5 |
| Catalytic Nucleophile | Glu379 |
Catalytic Acid/Base
| Glu274 |
| Substrate | glucocerebroside + H2O |
| Product | ceramide + D-glucose |
| Structure(PDB/Phyre2_ID) | 3KE0 |
| kM | 0.03 |
| DRUG | CERDELGA,CEREDASE,CEREZYME,ELELYSO,MIGLUSTAT GEN. ORPH,VPRIV,YARGESA,ZAVESCA |
| SEQ LENGTH | 536 |
| AA SEQ | MEFSSPSREECPKPLSRVSIMAGSLTGLLLLQAVSWASGARPCIPKSFGYSSVVCVCNATYCDSFDPPTFPALGTFSRYESTRSGRRMELSMGPIQANHTGTGLLLTLQPEQKFQKVKGFGGAMTDAAALNILALSPPAQNLLLKSYFSEEGIGYNIIRVPMASCDFSIRTYTYADTPDDFQLHNFSLPEEDTKLKIPLIHRALQLAQRPVSLLASPWTSPTWLKTNGAVNGKGSLKGQPGDIYHQTWARYFVKFLDAYAEHKLQFWAVTAENEPSAGLLSGYPFQCLGFTPEHQRDFIARDLGPTLANSTHHNVRLLMLDDQRLLLPHWAKVVLTDPEAAKYVHGIAVHWYLDFLAPAKATLGETHRLFPNTMLFASEACVGSKFWEQSVRLGSWDRGMQYSHSIITNLLYHVVGWTDWNLALNPEGGPNWVRNFVDSPIIVDITKDTFYKQPMFYHLGHFSKFIPEGSQRVGLVASQKNDLDAVALMHPDGSAVVVVLNRSSKDVPLTIKDPAVGFLETISPGYSIHTYLWRRQ |
| MODIFICATION | N-linked Glycosylation:Asn58,Asn98,Asn185,Asn309,Asn501 |
| INHIBITOR | 1,5-dideoxy1,5-iminoxylitol;5-N,6-O[N'(noctyl)iminomethylidene]nojirimycin,alpha-1-Cnonyl1-deoxyiminoDxylitol,conduritolBepoxide,N-(5adamantane1ylmethoxy)pentyldeoxynojirimycin,phydroxymercuribenzoate |
| ACTIVE SITE RESIDUE | Glu274,Glu379 |
| DISULPHIDE BRIDGES | *43-55,*57-62 |
| PSEUDOGENES | PGOHUM00000262417 |
| MISCELLANEOUS | NA |
| PARALOGS | NA |
| MECHANISM | D-glucosyl-N-acylsphingosine + H2O = D-glucose + N-acylsphingosine |
| INHERITANCE PATTERN | Autosomal recessive |
| ORGAN AFFECTED | Eye,Boness,Liver,Lungs,Hair,Spleen,Nose,Skin |
| ENZYME LOCATION | NMBH |
| UniProt ID | P04062 |
