Welcome to Entry Card of Lysosomal Enzymes


Details of RareLSD ID 1043
RareLSD_Id1043
ENZYMEHeparaglucosaminide Nacetyltransferase (TMEM76)
GENEHGSNAT
E.C.NUMBER2.3.1.78
FAMILYAcetyltransfersases
CYTOGENETICS8p11.21-p11.1
DISEASEMucopolysaccharidosis type IIIC
SNPrs1057518644,rs1058608,rs1085307112,rs112029032,rs...
DEPOSITheparan sulfate
REF676018, 20583299 , 3090688
TEMP (in Celsius)37
pI7.4
pH5.5
Catalytic NucleophileHis269
Catalytic Acid/Base
NA
SubstrateAcetylCoA + heparan sulfate alpha-D-glucosaminide
Product CoA + heparan sulfate NacetylalphaD-glucosaminide.
Structure(PDB/Phyre2_ID)d1qlec
kM0.0025
DRUGGenistein sodium salt dihydrate,adenoassociated viral vector,serotype 9 containing the human HGST gene
SEQ LENGTH663
AA SEQMTGARASAAEQRRAGRSGQARAAERAAGMSGAGRALAALLLAASVLSAALLAPGGSSGRDAQAAPPRDLDKKRHAELKMDQALLLIHNELLWTNLTVYWKSECCYHCLFQVLVNVPQSPKAGKPSAAAASVSTQHGSILQLNDTLEEKEVCRLEYRFGEFGNYSLLVKNIHNGVSEIACDLAVNEDPVDSNLPVSIAFLIGLAVIIVISFLRLLLSLDDFNNWISKAISSRETDRLINSELGSPSRTDPLDGDVQPATWRLSALPPRLRSVDTFRGIALILMVFVNYGGGKYWYFKHASWNGLTVADLVFPWFVFIMGSSIFLSMTSILQRGCSKFRLLGKIAWRSFLLICIGIIIVNPNYCLGPLSWDKVRIPGVLQRLGVTYFVVAVLELLFAKPVPEHCASERSCLSLRDITSSWPQWLLILVLEGLWLGLTFLLPVPGCPTGYLGPGGIGDFGKYPNCTGGAAGYIDRLLLGDDHLYQHPSSAVLYHTEVAYDPEGILGTINSIVMAFLGVQAGKILLYYKARTKDILIRFTAWCCILGLISVALTKVSENEGFIPVNKNLWSLSYVTTLSSFAFFILLVLYPVVDVKGLWTGTPFFYPGMNSILVYVGHEVFENYFPFQWKLKDNQSHKEHLTQNIVATALWVLIAYILYRKKIFWKI
MODIFICATIONN-linked Glycosylation:Asn94,Asn142,Asn162,Asn461,Phosphorylation:Ser243,Ser245
INHIBITORN-bromosuccinimide,coenzyme A,D-glucosaminedesulfoCoA,N-acetylbetaD-glucosamine
ACTIVE SITE RESIDUEHis297
DISULPHIDE BRIDGES*151-462
PSEUDOGENESNA
MISCELLANEOUSNA
PARALOGSNA
MECHANISMAcetylates the nonreducing termil alphaglucosamine residue of intralysosomal heparin or heparan sulfate, converting it into a substrate for lumil alphaNacetyl glucosaminidase
INHERITANCE PATTERNAutosomal recessive
ORGAN AFFECTEDHEart,Hair,Muscle,Boness,Nervous System,Lungs,Spleen,Liver,Eye,Ear,Nose
ENZYME LOCATIONNMBH
UniProt IDQ68CP4