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Details of RareLSD ID 1044
RareLSD_Id1044
ENZYMEHeparanase
GENEHPSE
E.C.NUMBER3.2.1.166
FAMILYGH79
CYTOGENETICS4q21.23
DISEASEUrofacial Syndrome 1
SNPrs193066451,rs483352894,rs121908282,rs121908283,rs121908284,VAR_030083,VAR_030084,VAR_030085,VAR_030086,VAR_030087,VAR_030088,VAR_030089,VAR_030090,VAR_063983,VAR_063984
DEPOSITheparin sulphate glycosaminoglycans
REF21332471 , 17489495, 27855655
TEMP (in Celsius)37
pI9.2
pH04-Jun
Catalytic NucleophileGlu287
Catalytic Acid/Base
Glu173
Substrate4deoxyalphaLthreohex4enepyranosyluronic acid 2sulfate(beta1,4)GlcN2Nsulfate6Osulfate(alpha1,4)GlcUA(beta1,4)GlcN2Nsulfate6Osulfate(alpha1,4)GlcUA(beta1,4)GlcN2Nsulfate6Osulfate + H2O
Product4deoxyalphaLthreohex4enepyranosyluronic acid 2sulfate(beta1,4)GlcN2Nsulfate6Osulfate(alpha1,4)GlcUA(beta1,4)GlcN2Nsulfate6Osulfate(alpha1,4)GlcUA + GlcN2Nsulfate6Osulfate
Structure(PDB/Phyre2_ID)5E8M
kM7.7
DRUGNA
SEQ LENGTH543
AA SEQMLLRSKPALPPPLMLLLLGPLGPLSPGALPRPAQAQDVVDLDFFTQEPLHLVSPSFLSVTIDANLATDPRFLILLGSPKLRTLARGLSPAYLRFGGTKTDFLIFDPKKESTFEERSYWQSQVNQDICKYGSIPPDVEEKLRLEWPYQEQLLLREHYQKKFKNSTYSRSSVDVLYTFANCSGLDLIFGLNALLRTADLQWNSSNAQLLLDYCSSKGYNISWELGNEPNSFLKKADIFINGSQLGEDFIQLHKLLRKSTFKNAKLYGPDVGQPRRKTAKMLKSFLKAGGEVIDSVTWHHYYLNGRTATKEDFLNPDVLDIFISSVQKVFQVVESTRPGKKVWLGETSSAYGGGAPLLSDTFAAGFMWLDKLGLSARMGIEVVMRQVFFGAGNYHLVDENFDPLPDYWLSLLFKKLVGTKVLMASVQGSKRRKLRVYLHCTNTDNPRYKEGDLTLYAINLHNVTKYLRLPYPFSNKQVDKYLLRPLGPHGLLSKSVQLNGLTLKMVDDQTLPPLMEKPLRPGSSLGLPAFSYSFFVIRNAKVAACI
MODIFICATIONN-linked Glycosylation:Asn162,Asn178,Asn200,Asn217,Asn238,Asn459
INHIBITOR(IdoA2SGlcNS)n,amodiaquine,lamirin sulfate,oligomannurarate sulfate,sulfated PG545,sulfated trisaccharide from PG545
ACTIVE SITE RESIDUEGlu225,Glu343
DISULPHIDE BRIDGES*127-179,*437-542
PSEUDOGENESNA
MISCELLANEOUSNA
PARALOGSHPSE2
MECHANISMEndohydrolysis of (1>4)betaD-glycosidic bonds of heparan sulfate chains in heparan sulfate proteoglycan.
INHERITANCE PATTERNAutosomal recessive
ORGAN AFFECTEDKidney,Head
ENZYME LOCATIONNA
UniProt IDQ9Y251