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Details of RareLSD ID 1028
RareLSD_Id1028
ENZYMECathepsin H
GENECTSH
E.C.NUMBER3.4.22.16
FAMILYPapain cysteine protease (C1)
CYTOGENETICS15q24q25
DISEASEThyroid crisis,Narcolepsy 1.
SNPrs886037648,VAR_036478,rs1000054384,rs1000105021,rs1000268396
DEPOSITPROTEINS
REF2587265, 11796715,
TEMP (in Celsius)37
pI6.3-6.8
pH5.5
Catalytic NucleophileCys25
Catalytic Acid/Base
H2O
SubstrateArg2phthylamide
ProductNA
Structure(PDB/Phyre2_ID)6CZK
kM0.097
DRUGNA
SEQ LENGTH335
AA SEQMWATLPLLCAGAWLLGVPVCGAAELCVNSLEKFHFKSWMSKHRKTYSTEEYHHRLQTFASNWRKINAHNNGNHTFKMALNQFSDMSFAEIKHKYLWSEPQNCSATKSNYLRGTGPYPPSVDWRKKGNFVSPVKNQGACGSCWTFSTTGALESAIAIATGKMLSLAEQQLVDCAQDFNNHGCQGGLPSQAFEYILYNKGIMGEDTYPYQGKDGYCKFQPGKAIGFVKDVANITIYDEEAMVEAVALYNPVSFAFEVTQDFMMYRTGIYSSTSCHKTPDKVNHAVLAVGYGEKNGIPYWIVKNSWGPQWGMNGYFLIERGKNMCGLAACASYPIPLV
MODIFICATIONN-linked Glycosylation:Asn101,Asn230,Ubiquitnation:Lys106
INHIBITORcystatin A,B,C,D;ovocystatin;oryzacystatin II;onchocystatin;phytocystatin ;cystatin RHcyst1 ;cytotoxic;Tlymphocyte antigen2 alpha;cathepsin H propeptide;cytotoxic Tlymphocyte antigen2 beta;crammer peptidase inhibitor;MHC II invariant chain p41 form;alpha2macroglobulin;falstatin;macrocypin 1,3,4;iodoacetate;leupeptin;azapeptide inhibitors of cysteine;peptidases;E64;TLCK;ZVADFMK;kininogen;Tkininogen
ACTIVE SITE RESIDUEGln135,Cys14,His281,Asn301
DISULPHIDE BRIDGES*102-327,*138-181,*172-214,*272-322
PSEUDOGENESNA
MISCELLANEOUSNA
PARALOGSCTSF,CTSO,CTSW,CTSV,CTSK,CTSS,CTSC,CTSZ,CTSL
MECHANISMHydrolysis of proteins, acting as an aminopeptidase (notably, cleaving Arg|Xaa bonds)
INHERITANCE PATTERNAutosomal Dominant
ORGAN AFFECTEDNervous System
ENZYME LOCATIONOD
UniProt IDP09668