Welcome to Entry Card of Lysosomal Enzymes
Details of RareLSD ID 1039 |
| RareLSD_Id | 1039 |
| ENZYME | gammaGlutamyl hydrolase |
| GENE | GGH |
| E.C.NUMBER | 3.4.19.9 |
| FAMILY | peptidase C26 |
| CYTOGENETICS | 8q12.23q13.1 |
| DISEASE | Tropical Sprue & Methotrexate Toxicity |
| SNP | rs1000018736,rs1000117943,rs1000376916,rs1000399320,rs1000673791 |
| DEPOSIT | methotrexate |
| REF | 11005824, 5500927 , 10739875 |
| TEMP (in Celsius) | 60 |
| pI | NA |
| pH | 4.5 -6 |
| Catalytic Nucleophile | Cys134 |
| Catalytic Acid/Base | His244 |
| Substrate | folate + H2O |
| Product | pteroate + glutamate |
| Structure(PDB/Phyre2_ID) | 2ISP |
| kM | 0.02945 |
| DRUG | VORAXAZE(Carboxypeptidase G2) |
| SEQ LENGTH | 318 |
| AA SEQ | MASPGCLLCVLGLLLCGAASLELSRPHGDTAKKPIIGILMQKCRNKVMKNYGRYYIAASYVKYLESAGARVVPVRLDLTEKDYEILFKSINGILFPGGSVDLRRSDYAKVAKIFYNLSIQSFDDGDYFPVWGTCLGFEELSLLISGECLLTATDTVDVAMPLNFTGGQLHSRMFQNFPTELLLSLAVEPLTANFHKWSLSVKNFTMNEKLKKFFNVLTTNTDGKIEFISTMEGYKYPVYGVQWHPEKAPYEWKNLDGISHAPNAVKTAFYLAEFFVNEARKNNHHFKSESEEEKALIYQFSPIYTGNISSFQQCYIFD |
| MODIFICATION | N-linked Glycosylation:Asn46,Asn100,Asn153,Asn162,Asn188,Asn202,Asn306 |
| INHIBITOR | acivicin,6diazo5oxonorleucine,azaserine,gammadiglutamate iodoacetate,p-Aminobenzoate,p-Aminobenzoylglutamatephydroxymercuribenzoate,Pterine,pteroyldiglutamate,pteroyltriglutamate,Pteroylheptaglutamate,Salicylazosulfapyridine,substituted and reduced pteroylglutamate,Zn2+ |
| ACTIVE SITE RESIDUE | Cys133, Glu245 |
| DISULPHIDE BRIDGES | NA |
| PSEUDOGENES | NA |
| MISCELLANEOUS | NA |
| PARALOGS | NA |
| MECHANISM | hydrolyses the gammaglutamyl tail of antifolate and folate polyglutamates |
| INHERITANCE PATTERN | NA |
| ORGAN AFFECTED | Liver |
| ENZYME LOCATION | OD |
| UniProt ID | Q92820 |