| RareLSD_Id | 1042 |
| ENZYME | N-acetylglucosamine-1-phosphotransferasesubunits a... |
| GENE | GNPTAB |
| E.C.NUMBER | 2.7.8.17 |
| FAMILY | Stealth |
| CYTOGENETICS | 12q23.2 |
| DISEASE | Mucolipidosis Iii Alpha/Beta |
| SNP | rs1057518644,rs1058608,rs1085307112 ,rs112029032 ,rs1126058 |
| DEPOSIT | Lipid |
| REF | 23733939, 25505245, 21719679, 16200072, 16835905, 19197337, 19617216, 19634183, 16094673, 16465621, 16630736, 17034777, 19197337, 19617216, 19634183, 19938078 |
| TEMP (in Celsius) | 37 |
| pI | NA |
| pH | 7.4 |
| Catalytic Nucleophile | NA |
Catalytic Acid/Base
| NA |
| Substrate | UDP-N-acetyl-D-glucosamine + lysosomal-cathepsin Z D-mannose |
| Product | UMP + lysosomal-cathepsin Z N-acetyl-D-glucosaminyl-phospho-D-mannose |
| Structure(PDB/Phyre2_ID) | 2N6D |
| kM | 0.024 |
| DRUG | Lamivudine,Lopinavir |
| SEQ LENGTH | 1256 |
| AA SEQ | MLFKLLQRQTYTCLSHRYGLYVCFLGVVVTIVSAFQFGEVVLEWSRDQYHVLFDSYRDNIAGKSFQNRLCLPMPIDVVYTWVNGTDLELLKELQQVREQMEEEQKAMREILGKNTTEPTKKSEKQLECLLTHCIKVPMLVLDPALPANITLKDLPSLYPSFHSASDIFNVAKPKNPSTNVSVVVFDSTKDVEDAHSGLLKGNSRQTVWRGYLTTDKEVPGLVLMQDLAFLSGFPPTFKETNQLKTKLPENLSSKVKLLQLYSEASVALLKLNNPKDFQELNKQTKKNMTIDGKELTISPAYLLWDLSAISQSKQDEDISASRFEDNEELRYSLRSIERHAPWVRNIFIVTNGQIPSWLNLDNPRVTIVTHQDVFRNLSHLPTFSSPAIESHIHRIEGLSQKFIYLNDDVMFGKDVWPDDFYSHSKGQKVYLTWPVPNCAEGCPGSWIKDGYCDKACNNSACDWDGGDCSGNSGGSRYIAGGGGTGSIGVGQPWQFGGGINSVSYCNQGCANSWLADKFCDQACNVLSCGFDAGDCGQDHFHELYKVILLPNQTHYIIPKGECLPYFSFAEVAKRGVEGAYSDNPIIRHASIANKWKTIHLIMHSGMNATTIHFNLTFQNTNDEEFKMQITVEVDTREGPKLNSTAQKGYENLVSPITLLPEAEILFEDIPKEKRFPKFKRHDVNSTRRAQEEVKIPLVNISLLPKDAQLSLNTLDLQLEHGDITLKGYNLSKSALLRSFLMNSQHAKIKNQAIITDETNDSLVAPQEKQVHKSILPNSLGVSERLQRLTFPAVSVKVNGHDQGQNPPLDLETTARFRVETHTQKTIGGNVTKEKPPSLIVPLESQMTKEKKITGKEKENSRMEENAENHIGVTEVLLGRKLQHYTDSYLGFLPWEKKKYFQDLLDEEESLKTQLAYFTDSKNTGRQLKDTFADSLRYVNKILNSKFGFTSRKVPAHMPHMIDRIVMQELQDMFPEEFDKTSFHKVRHSEDMQFAFSYFYY |
| MODIFICATION | N-LINKED Glycosylation:Asn83,Asn114,Asn148,Asn179,Asn250,Asn614,Asn699,Asn729,Asn829,Asn1009,Asn1129,Thr873,Ser844,Thr813,Thr789 |
| INHIBITOR | cathepsinD,phosphatidic acid,phosphatidylglycerol,phosphatidylserine,UDP |
| ACTIVE SITE RESIDUE | NA |
| DISULPHIDE BRIDGES | *438-461,*452-468,*505-528,*519-535 |
| PSEUDOGENES | PGOHUM00000297036 |
| MISCELLANEOUS | Proteolytic cleavage at the Lys928-Asp929 bond yields the mature alpha and beta polypeptides |
| PARALOGS | DKFZp762B226,SUN3,LGALS3,NSRP1,NPAT,GRIK2,UTY,C12o... |
| MECHANISM | NA |
| INHERITANCE PATTERN | Autosomal Recessive |
| ORGAN AFFECTED | Head,Heart,Spleen,Liver,Lung,Eye |
| ENZYME LOCATION | NMBH |
| UniProt ID | Q3T906 |
