Welcome to Entry Card of Lysosomal Enzymes
Details of RareLSD ID 1004 |
| RareLSD_Id | 1004 |
| ENZYME | Alpha Mannosidase |
| GENE | MAN2B1 |
| E.C.NUMBER | 3.2.1.24 |
| FAMILY | GH38 |
| CYTOGENETICS | 19p13.13 |
| DISEASE | Alpha-Mannosidosis |
| SNP | rs10410289,rs1054486,rs1054487,rs1057516289,rs1057516325 |
| DEPOSIT | Soluble mannoserich oligosaccharides |
| REF | 12718372, 15712269, 22161967, 9158146, 9758606, 9915946 |
| TEMP (in Celsius) | 37 |
| pI | 8.3 |
| pH | 4 -4.5 |
| Catalytic Nucleophile | Asp204 |
| Catalytic Acid/Base | Asp341 |
| Substrate | alpha-D-mannosidosis fibroblasts + H2O |
| Product | Man72Glcc + ? |
| Structure(PDB/Phyre2_ID) | 1FMI |
| kM | 0.55 |
| DRUG | NA |
| SEQ LENGTH | 1011 |
| AA SEQ | MGAYARASGVCARGCLDSAGPWTMSRALRPPLPPLCFFLLLLAAAGARAGGYETCPTVQPNMLNVHLLPHTHDDVGWLKTVDQYFYGIKNDIQHAGVQYILDSVISALLADPTRRFIYVEIAFFSRWWHQMGAYARASGVCARGCLDSAGPWTMSRALRPPLPPLCFFLLLLAAAGARAGGYETCPTVQPNMLNVHLLPHTHDDVGWLKTVDQYFYGIKNDIQHAGVQYILDSVISALLADPTRRFIYVEIAFFSRWWHQQTNATQEVVRDLVRQGRLEFANGGWVMNDEAATHYGAIVDQMTLGLRFLEDTFGNDGRPRVAWHIDPFSREQASLFAQMGFDGFFFGRLDYQDKWVRMQKLEMEQVWRASTSLKPPTADLFTGVLPNGYNPPRNLCWDVLCVDQPLVEDPRSPEYNAKELVDYFLNVATAQGRYYRTNHTVMTMGSDFQYENANMWFKNLDKLIRLVNAQQAKGSSVHVLYSTPACYLWELNKANLTWSVKHDDFFPYADGPHQFWTGYFSSRPALKRYERLSYNFLQVCNQLEALVGLAANVGPYGSGDSAPLNEAMAVLQHHDAVSGTSRQHVANDYARQLAAGWGPCEVLLSNALARLRGFKDHFTFCQQLNISICPLSQTAARFQVIVYNPLGRKVNWMVRLPVSEGVFVVKDPNGRTVPSDVVIFPSSDSQAHPPELLFSASLPALGFSTYSVAQVPRWKPQARAPQPIPRRSWSPALTIENEHIRATFDPDTGLLMEIMNMNQQLLLPVRQTFFWYNASIGDNESDQASGAYIFRPNQQKPLPVSRWAQIHLVKTPLVQEVHQNFSAWCSQVVRLYPGQRHLELEWSVGPIPVGDTWGKEVISRFDTPLETKGRFYTDSNGREILERRRDYRPTWKLNQTEPVAGNYYPVNTRIYITDGNMQLTVLTDRSQGGSSLRDGSLELMVHRRLLKDDGRGVSEPLMENGSGAWVRGRHLVLLDTAQAAAAGHRLLAEQEVLAPQVVLA |
| MODIFICATION | N-linked Glycosylation: Asn133,Asn367,Asn497,Asn645,Asn651,Asn692,Asn766,Asn832,Asn930, Asn989 |
| INHIBITOR | Kifunensine,1-Deoxynojirimycin, 1-Deoxymannojirimycin hydrochloride,Miglitol, OGT 2115 |
| ACTIVE SITE RESIDUE | Asp196 |
| DISULPHIDE BRIDGES | *55-358,*268-273,*412-472*493-501 |
| PSEUDOGENES | NA |
| MISCELLANEOUS | NA |
| PARALOGS | MAN2B2,MAN2A2,MAN2A1 |
| MECHANISM | Hydrolyses a1,2, a1,3 and a1,6 mannose-mannose linkages from the non-reducing end of the oligosaccharide |
| INHERITANCE PATTERN | Autosomal recessive |
| ORGAN AFFECTED | Liver, Kidney, Spleen,Eye |
| ENZYME LOCATION | NA |
| UniProt ID | O00754 |