| RareLSD_Id | 1035 |
| ENZYME | Chitotriosidase1 |
| GENE | CHIT1 |
| E.C.NUMBER | 3.2.1.14 |
| FAMILY | GH18 |
| CYTOGENETICS | 1q32.1 |
| DISEASE | chitotriosidase deficiency,Gaucher's disease |
| SNP | rs1065761,rs115551220,rs116389839,rs11800196 ,rs137852607 |
| DEPOSIT | NA |
| REF | 9748235, 17464953, 19725875 |
| TEMP (in Celsius) | 25 |
| pI | 2 |
| pH | 04-May |
| Catalytic Nucleophile | carbonyl oxygen of the substrate |
Catalytic Acid/Base
| Glu/Asp |
| Substrate | 4methylumbelliferyl+2acetamido4O(2acetamido2,4dideoxybetaDxylohexopyranosyl)2deoxybetaD-glucopyranoside + H2O |
| Product | 4methylumbelliferol + 2-acetamido4O(2-acetamido 2,4-dideoxybetaD-xylohexopyranosyl)2-deoxybetaD-glucopyranoside |
| Structure(PDB/Phyre2_ID) | 5HBF |
| kM | 0.03 |
| DRUG | Isopropyl alcohol,N-AcetylD-glucosamine,Water |
| SEQ LENGTH | 466 |
| AA SEQ | MVRSVAWAGFMVLLMIPWGSAAKLVCYFTNWAQYRQGEARFLPKDLDPSLCTHLIYAFAGMTNHQLSTTEWNDETLYQEFNGLKKMNPKLKTLLAIGGWNFGTQKFTDMVATANNRQTFVNSAIRFLRKYSFDGLDLDWEYPGSQGSPAVDKERFTTLVQDLANAFQQEAQTSGKERLLLSAAVPAGQTYVDAGYEVDKIAQNLDFVNLMAYDFHGSWEKVTGHNSPLYKRQEESGAAASLNVDAAVQQWLKGTPASKLILGMPTYGRSFTLASSSDTRVGAPATGSGTPGPFTKEGGMLAYYEVCSWKGATKQRIQDQKVPYIFRDNQWVGFDDVESFKTKVSYLKQKGLGGAMVWALDLDDFAGFSCNQGRYPLIQTLRQELSLPYLPSGTPELEVPKPGQPSEPEHGPSPGQDTFCQGKADGLYPNPRERSSFYSCAAGRLFQQSCPTGLVFSNSCKCCTWN |
| MODIFICATION | N-linked Glycosylation:Ser354,Asn100 |
| INHIBITOR | 2-(piperazin1yl)pyridine3-carboxamide,2-methyl3-[[4-(pyridin2yl)piperazin1yl]methyl]1-Hindole,4-(4-chlorophenyl)piperazine1-carboximidamide ,5-[4-[(4-bromophenoxy)ethyl]piperazin1yl]1-H1,2,4-triazol3-amine,allosamidin,methylallosamidin,N-ethyl2(4methylpiperazin1yl)pyridine3carboxamide |
| ACTIVE SITE RESIDUE | Glu140 |
| DISULPHIDE BRIDGES | *26-51,*307-370,*450-463 |
| PSEUDOGENES | NA |
| MISCELLANEOUS | NA |
| PARALOGS | CHI3L1,CHIA ,CHI3L2 ,OVGP1 |
| MECHANISM | Double displacement reaction mechanism with neighbouring group participation |
| INHERITANCE PATTERN | Autosomal recessive |
| ORGAN AFFECTED | NA |
| ENZYME LOCATION | NMBH |
| UniProt ID | Q13231 |
