Welcome to Entry Card of Lysosomal Enzymes


Details of RareLSD ID 1058
RareLSD_Id1058
ENZYMEProtective protein (cathepsin A)
GENECTSA
E.C.NUMBER3.4.16.5
FAMILYpeptidase S10
CYTOGENETICS20q13.12
DISEASEGalactosialidosis
SNPrs116893852,rs117529875,rs137854540,rs137854541,rs...
DEPOSITglycoprotein
REF23915561, 6812049, 19097920
TEMP (in Celsius)27
pI5.5
pH4.5
Catalytic NucleophileSer178
Catalytic Acid/Base
Asp400,His457
SubstrateCBZPheLeu + H2O
ProductN-benzyloxycarbonyl-L-Phe + L-leucine
Structure(PDB/Phyre2_ID)4CI9
kM0.04
DRUGNA
SEQ LENGTH480
AA SEQMIRAAPPPLFLLLLLLLLLVSWASRGEAAPDQDEIQRLPGLAKQPSFRQYSGYLKGSGSKHLHYWFVESQKDPENSPVVLWLNGGPGCSSLDGLLTEHGPFLVQPDGVTLEYNPYSWNLIANVLYLESPAGVGFSYSDDKFYATNDTEVAQSNFEALQDFFRLFPEYKNNKLFLTGESYAGIYIPTLAVLVMQDPSMNLQGLAVGNGLSSYEQNDNSLVYFAYYHGLLGNRLWSSLQTHCCSQNKCNFYDNKDLECVTNLQEVARIVGNSGLNIYNLYAPCAGGVPSHFRYEKDTVVVQDLGNIFTRLPLKRMWHQALLRSGDKVRMDPPCTNTTAASTYLNNPYVRKALNIPEQLPQWDMCNFLVNLQYRRLYRSMNSQYLKLLSSQKYQILLYNGDVDMACNFMGDEWFVDSLNQKMEVQRRPWLVKYGDSGEQIAGFVKEFSHIAFLTIKGAGHMVPTDKPLAAFTMFSRFLNKQPY
MODIFICATIONN-linked Glycosylation:Asn145,Asn333,Ubiquitination:Lys429
INHIBITOR(S)1-chloro4-phenyl3-tosylamido2-butanone,3,4-dichloroisocoumarin chymostatin,ebelactone B,piperastatin A,poststatin
ACTIVE SITE RESIDUESer178,Asp400,His457
DISULPHIDE BRIDGES*88-362,*240-256,*241-246,*281-331
PSEUDOGENESNA
MISCELLANEOUSLoss of function of PPCA/CTSA results in the secondary combined deficiency of GLB1 and NEU1, which is the biochemical hallmark of the Galactosialidosis
PARALOGSCPVL
MECHANISMNA
INHERITANCE PATTERNAutosomal recessive
ORGAN AFFECTEDNervous System,Boness,Skin,HEart,Ear
ENZYME LOCATIONNMBH
UniProt IDP10619