Details of RareLSD ID 1028 |
RareLSD_Id | 1028 |
ENZYME | Cathepsin H |
GENE | CTSH |
E.C.NUMBER | 3.4.22.16 |
FAMILY | Papain cysteine protease (C1) |
CYTOGENETICS | 15q24q25 |
DISEASE | Thyroid crisis,Narcolepsy 1. |
SNP | rs886037648,VAR_036478,rs1000054384,rs1000105021,rs1000268396 |
DEPOSIT | PROTEINS |
REF | 2587265, 11796715, |
TEMP (in Celsius) | 37 |
pI | 6.3-6.8 |
pH | 5.5 |
Catalytic Nucleophile | Cys25 |
Catalytic Acid/Base | H2O |
Substrate | Arg2phthylamide |
Product | NA |
Structure(PDB/Phyre2_ID) | 6CZK |
kM | 0.097 |
DRUG | NA |
SEQ LENGTH | 335 |
AA SEQ | MWATLPLLCAGAWLLGVPVCGAAELCVNSLEKFHFKSWMSKHRKTYSTEEYHHRLQTFASNWRKINAHNNGNHTFKMALNQFSDMSFAEIKHKYLWSEPQNCSATKSNYLRGTGPYPPSVDWRKKGNFVSPVKNQGACGSCWTFSTTGALESAIAIATGKMLSLAEQQLVDCAQDFNNHGCQGGLPSQAFEYILYNKGIMGEDTYPYQGKDGYCKFQPGKAIGFVKDVANITIYDEEAMVEAVALYNPVSFAFEVTQDFMMYRTGIYSSTSCHKTPDKVNHAVLAVGYGEKNGIPYWIVKNSWGPQWGMNGYFLIERGKNMCGLAACASYPIPLV |
MODIFICATION | N-linked Glycosylation:Asn101,Asn230,Ubiquitnation:Lys106 |
INHIBITOR | cystatin 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 RESIDUE | Gln135,Cys14,His281,Asn301 |
DISULPHIDE BRIDGES | *102-327,*138-181,*172-214,*272-322 |
PSEUDOGENES | NA |
MISCELLANEOUS | NA |
PARALOGS | CTSF,CTSO,CTSW,CTSV,CTSK,CTSS,CTSC,CTSZ,CTSL |
MECHANISM | Hydrolysis of proteins, acting as an aminopeptidase (notably, cleaving Arg|Xaa bonds) |
INHERITANCE PATTERN | Autosomal Dominant |
ORGAN AFFECTED | Nervous System |
ENZYME LOCATION | OD |
UniProt ID | P09668 |