Details of RareLSD ID 1031 |
| RareLSD_Id | 1031 |
| ENZYME | Cathepsin O |
| GENE | CTSO |
| E.C.NUMBER | 3.4.22.42 |
| FAMILY | Papain cysteine protease (C1) |
| CYTOGENETICS | 4q31q32 |
| DISEASE | Breast Neoplasms |
| SNP | rs10000523,rs1000091125,rs1000174042,rs10002427,rs1000247612 |
| DEPOSIT | NA |
| REF | 9790772 , 28514442 , 7929457 |
| TEMP (in Celsius) | 0 |
| pI | NA |
| pH | NA |
| Catalytic Nucleophile | Cys25 |
| Catalytic Acid/Base | H2O |
| Substrate | Fibrinogen + H2O |
| Product | NA |
| Structure(PDB/Phyre2_ID) | d7pcka |
| kM | NA |
| DRUG | NA |
| SEQ LENGTH | 321 |
| AA SEQ | MDVRALPWLPWLLWLLCRGGGDADSRAPFTPTWPRSREREAAAFRESLNRHRYLNSLFPSENSTAFYGINQFSYLFPEEFKAIYLRSKPSKFPRYSAEVHMSIPNVSLPLRFDWRDKQVVTQVRNQQMCGGCWAFSVVGAVESAYAIKGKPLEDLSVQQVIDCSYNNYGCNGGSTLNALNWLNKMQVKLVKDSEYPFKAQNGLCHYFSGSHSGFSIKGYSAYDFSDQEDEMAKALLTFGPLVVIVDAVSWQDYLGGIIQHHCSSGEANHAVLITGFDKTGSTPYWIVRNSWGSSWGVDGYAHVKMGSNVCGIADSVSSIFV |
| MODIFICATION | N-linked Glycosylation:Asn62,Asn105 |
| INHIBITOR | E64 |
| ACTIVE SITE RESIDUE | Gln126,Cys132,His269,Asn289 |
| DISULPHIDE BRIDGES | *129-170,*163-204,*262-310 |
| PSEUDOGENES | NA |
| MISCELLANEOUS | NA |
| PARALOGS | CTSF,CTSL,CTSW,CTSV,CTSK,CTSS,CTSH,CTSC,CTSZ |
| MECHANISM | recombinant human enzyme hydrolyzes synthetic endopeptidase substrates including ZPheArgNHMec and ZArgArgNHMec |
| INHERITANCE PATTERN | Autosomal Dominant |
| ORGAN AFFECTED | Skin |
| ENZYME LOCATION | OD |
| UniProt ID | P43234 |