Details of RareLSD ID 1042 |
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 |