Welcome to Entry Card of Lysosomal Enzymes
Details of RareLSD ID 1011 |
| RareLSD_Id | 1011 |
| ENZYME | Acid phosphatase type 5, tartrate resistant (UTERO... |
| GENE | ACP5 |
| E.C.NUMBER | 3.1.3.2 |
| FAMILY | Histidine acid phosphatase |
| CYTOGENETICS | 19p13.2 |
| DISEASE | Spondyloenchondrodysplasia with immune dysregulation |
| SNP | rs369804864,rs387906668 ,rs387906669,rs387906670 ,rs387906672 ,rs781050795,rs781199182,rs781050795 |
| DEPOSIT | Phosphorylated osteopontin |
| REF | 247302626, 951490 |
| TEMP (in Celsius) | 37 |
| pI | 7.9-6.5 |
| pH | 4.8-6.6 |
| Catalytic Nucleophile | His108 |
| Catalytic Acid/Base | Asp/Glu |
| Substrate | lysophosphatidic acid + H2O |
| Product | monoglyceride + phosphate |
| Structure(PDB/Phyre2_ID) | 1WAR |
| kM | NA |
| DRUG | NA |
| SEQ LENGTH | 325 |
| AA SEQ | MDMWTALLILQALLLPSLADGATPALRFVAVGDWGGVPNAPFHTAREMANAKEIARTVQILGADFILSLGDNFYFTGVQDINDKRFQETFEDVFSDRSLRKVPWYVLAGNHDHLGNVSAQIAYSKISKRWNFPSPFYRLHFKIPQTNVSVAIFMLDTVTLCGNSDDFLSQQPERPRDVKLARTQLSWLKKQLAAAREDYVLVAGHYPVWSIAEHGPTHCLVKQLRPLLATYGVTAYLCGHDHNLQYLQDENGVGYVLSGAGNFMDPSKRHQRKVPNGYLRFHYGTEDSLGGFAYVEISSKEMTVTYIEASGKSLFKTRLPRRARP |
| MODIFICATION | N-linked Glycosylation:Asn116,Asn147,Ubiquitition:Lys222 |
| INHIBITOR | Pb2+,plasmin,phosphoLtyrosine peptide analogues,salicylate |
| ACTIVE SITE RESIDUE | NA |
| DISULPHIDE BRIDGES | *161-219 |
| PSEUDOGENES | NA |
| MISCELLANEOUS | NA |
| PARALOGS | NA |
| MECHANISM | A phosphate monoester + H2O = an alcohol + phosphate |
| INHERITANCE PATTERN | Autosomal recessive |
| ORGAN AFFECTED | Skin, Boness, Head,Nervous System,Lungs,Hair |
| ENZYME LOCATION | NA |
| UniProt ID | P13686 |