Welcome to Entry Card of Lysosomal Enzymes
Details of RareLSD ID 1026 |
| RareLSD_Id | 1026 |
| ENZYME | Cathepsin D |
| GENE | CTSD |
| E.C.NUMBER | 3.4.23.5 |
| FAMILY | peptidase A1 (Aspartic Protease) |
| CYTOGENETICS | 11-p15.5 |
| DISEASE | NCL(CLN10) |
| SNP | rs121912789,rs121912790,rs786205105,rs587779409, c.486-12G> A |
| DEPOSIT | Ceroid lipofuscin |
| REF | 10856224, 19159210 |
| TEMP (in Celsius) | 37 |
| pI | 5.31 |
| pH | 3.5 |
| Catalytic Nucleophile | H2O |
| Catalytic Acid/Base | NA |
| Substrate | 2-aminobenzoylAAKFFSRQN(2,4-dinitrophenyl)ethylenediamine + H2O |
| Product | 2-aminobenzoylAAKF + FSRQN(2,4-dinitrophenyl)ethylenediamine |
| Structure(PDB/Phyre2_ID) | 1LYW |
| kM | 0.00045 |
| DRUG | BRINEURA,Gemfibrozil |
| SEQ LENGTH | 412 |
| AA SEQ | MQPSSLLPLALCLLAAPASALVRIPLHKFTSIRRTMSEVGGSVEDLIAKGPVSKYSQAVPAVTEGPIPEVLKNYMDAQYYGEIGIGTPPQCFTVVFDTGSSNLWVPSIHCKLLDIACWIHHKYNSDKSSTYVKNGTSFDIHYGSGSLSGYLSQDTVSVPCQSASSASALGGVKVERQVFGEATKQPGITFIAAKFDGILGMAYPRISVNNVLPVFDNLMQQKLVDQNIFSFYLSRDPDAQPGGELMLGGTDSKYYKGSLSYLNVTRKAYWQVHLDQVEVASGLTLCKEGCEAIVDTGTSLMVGPVDEVRELQKAIGAVPLIQGEYMIPCEKVSTLPAITLKLGGKGYKLSPEDYTLKVSQAGKTLCLSGFMGMDIPPPSGPLWILGDVFIGRYYTVFDRDNNRVGFAEAARL |
| MODIFICATION | N-linked Glycosylation:Asn134,Asn263,O-linked GLYCOSYLATION,Thr63,Ubiquitition:Lys28Lys54Lys184Lys348 |
| INHIBITOR | Pepstatin A,DANLME |
| ACTIVE SITE RESIDUE | Asp97, Tyr142, Asp 295 |
| DISULPHIDE BRIDGES | *91-160,*110-117,*286-290,*329-366 |
| PSEUDOGENES | NA |
| MISCELLANEOUS | NA |
| PARALOGS | BACE1,PGA3,BACE2,NAPSA,CTSE,PGC,PGA5,REN,PGA4 |
| MECHANISM | Does not cleave the 4Gln|His5 bond in B chain of insulin |
| INHERITANCE PATTERN | Autosomal recessive |
| ORGAN AFFECTED | Nervous System,Lungs,Eye,Muscle,Boness,Head,Nose |
| ENZYME LOCATION | OD |
| UniProt ID | P07339 |