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Details of RareLSD ID 1024

RareLSD_Id	1024
ENZYME	Cathepsin B
GENE	CTSB
E.C.NUMBER	3.4.22.1
FAMILY	peptidase C1
CYTOGENETICS	8p23.1
DISEASE	Keratolytic winter erythema
SNP	rs748590400,rs1000014976,rs1000089744,rs1000104175,rs1000148485
DEPOSIT	proteins
REF	11896452 , 24300638
TEMP (in Celsius)	22
pI	5.5- 5.9
pH	3.3
Catalytic Nucleophile	thiol group of a cysteine
Catalytic Acid/Base	NA
Substrate	Collagen + H2O
Product	NA
Structure(PDB/Phyre2_ID)	3CBK
kM	0.0161
DRUG	NA
SEQ LENGTH	339
AA SEQ	MWQLWASLCCLLVLANARSRPSFHPLSDELVNYVNKRNTTWQAGHNFYNVDMSYLKRLCGTFLGGPKPPQRVMFTEDLKLPASFDAREQWPQCPTIKEIRDQGSCGSCWAFGAVEAISDRICIHTNAHVSVEVSAEDLLTCCGSMCGDGCNGGYPAEAWNFWTRKGLVSGGLYESHVGCRPYSIPPCEHHVNGSRPPCTGEGDTPKCSKICEPGYSPTYKQDKHYGYNSYSVSNSEKDIMAEIYKNGPVEGAFSVYSDFLLYKSGVYQHVTGEMMGGHAIRILGWGVENGTPYWLVANSWNTDWGDNGFFKILRGQDHCGIESEVVAGIPRTDQYWEKI
MODIFICATION	N-linked Glycosylation:Asn192,Ubiquitition:Lys223,Lys237
INHIBITOR	ALLM,antipain,CA074,E64,iodoacetate,K11777,L873724,leupeptin,NCO700,relacatib,SJA6017,ZPheArgdiazomethane,zVADfmk,cystatin C,E64,Leupeptin,iodoacetate,iodoaceticacid,Nethylmaleimide,pchloromercuribenzoate
ACTIVE SITE RESIDUE	Asn298,His278,Gln102,Cys108
DISULPHIDE BRIDGES	*93-122,*105-150,*141-207,*142-146*179-211,*187-198
PSEUDOGENES	NA
MISCELLANEOUS	catalytic triad which occurs in the order Cys/His/Asn (or Asp)
PARALOGS	TINAG,TINAGL1
MECHANISM	cleaves ArgArg|Xaa bonds in small molecule substrates peptidyldipeptidase activity, liberating Cterminal dipeptides(ENDOPEPTIDASE)
INHERITANCE PATTERN	Autosomal Dominant
ORGAN AFFECTED	Skin
ENZYME LOCATION	OD
UniProt ID	P07858