Welcome to Entry Card of Lysosomal Enzymes


Details of RareLSD ID 1042
RareLSD_Id1042
ENZYMEN-acetylglucosamine-1-phosphotransferasesubunits a...
GENEGNPTAB
E.C.NUMBER2.7.8.17
FAMILYStealth
CYTOGENETICS12q23.2
DISEASEMucolipidosis Iii Alpha/Beta
SNPrs1057518644,rs1058608,rs1085307112 ,rs112029032 ,rs1126058
DEPOSITLipid
REF23733939, 25505245, 21719679, 16200072, 16835905, 19197337, 19617216, 19634183, 16094673, 16465621, 16630736, 17034777, 19197337, 19617216, 19634183, 19938078
TEMP (in Celsius)37
pINA
pH7.4
Catalytic NucleophileNA
Catalytic Acid/Base
NA
SubstrateUDP-N-acetyl-D-glucosamine + lysosomal-cathepsin Z D-mannose
ProductUMP + lysosomal-cathepsin Z N-acetyl-D-glucosaminyl-phospho-D-mannose
Structure(PDB/Phyre2_ID)2N6D
kM0.024
DRUGLamivudine,Lopinavir
SEQ LENGTH1256
AA SEQMLFKLLQRQTYTCLSHRYGLYVCFLGVVVTIVSAFQFGEVVLEWSRDQYHVLFDSYRDNIAGKSFQNRLCLPMPIDVVYTWVNGTDLELLKELQQVREQMEEEQKAMREILGKNTTEPTKKSEKQLECLLTHCIKVPMLVLDPALPANITLKDLPSLYPSFHSASDIFNVAKPKNPSTNVSVVVFDSTKDVEDAHSGLLKGNSRQTVWRGYLTTDKEVPGLVLMQDLAFLSGFPPTFKETNQLKTKLPENLSSKVKLLQLYSEASVALLKLNNPKDFQELNKQTKKNMTIDGKELTISPAYLLWDLSAISQSKQDEDISASRFEDNEELRYSLRSIERHAPWVRNIFIVTNGQIPSWLNLDNPRVTIVTHQDVFRNLSHLPTFSSPAIESHIHRIEGLSQKFIYLNDDVMFGKDVWPDDFYSHSKGQKVYLTWPVPNCAEGCPGSWIKDGYCDKACNNSACDWDGGDCSGNSGGSRYIAGGGGTGSIGVGQPWQFGGGINSVSYCNQGCANSWLADKFCDQACNVLSCGFDAGDCGQDHFHELYKVILLPNQTHYIIPKGECLPYFSFAEVAKRGVEGAYSDNPIIRHASIANKWKTIHLIMHSGMNATTIHFNLTFQNTNDEEFKMQITVEVDTREGPKLNSTAQKGYENLVSPITLLPEAEILFEDIPKEKRFPKFKRHDVNSTRRAQEEVKIPLVNISLLPKDAQLSLNTLDLQLEHGDITLKGYNLSKSALLRSFLMNSQHAKIKNQAIITDETNDSLVAPQEKQVHKSILPNSLGVSERLQRLTFPAVSVKVNGHDQGQNPPLDLETTARFRVETHTQKTIGGNVTKEKPPSLIVPLESQMTKEKKITGKEKENSRMEENAENHIGVTEVLLGRKLQHYTDSYLGFLPWEKKKYFQDLLDEEESLKTQLAYFTDSKNTGRQLKDTFADSLRYVNKILNSKFGFTSRKVPAHMPHMIDRIVMQELQDMFPEEFDKTSFHKVRHSEDMQFAFSYFYY
MODIFICATIONN-LINKED Glycosylation:Asn83,Asn114,Asn148,Asn179,Asn250,Asn614,Asn699,Asn729,Asn829,Asn1009,Asn1129,Thr873,Ser844,Thr813,Thr789
INHIBITORcathepsinD,phosphatidic acid,phosphatidylglycerol,phosphatidylserine,UDP
ACTIVE SITE RESIDUENA
DISULPHIDE BRIDGES*438-461,*452-468,*505-528,*519-535
PSEUDOGENESPGOHUM00000297036
MISCELLANEOUSProteolytic cleavage at the Lys928-Asp929 bond yields the mature alpha and beta polypeptides
PARALOGSDKFZp762B226,SUN3,LGALS3,NSRP1,NPAT,GRIK2,UTY,C12o...
MECHANISMNA
INHERITANCE PATTERNAutosomal Recessive
ORGAN AFFECTEDHead,Heart,Spleen,Liver,Lung,Eye
ENZYME LOCATIONNMBH
UniProt IDQ3T906