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Details of RareLSD ID 1035
RareLSD_Id1035
ENZYMEChitotriosidase1
GENECHIT1
E.C.NUMBER3.2.1.14
FAMILYGH18
CYTOGENETICS1q32.1
DISEASEchitotriosidase deficiency,Gaucher's disease
SNPrs1065761,rs115551220,rs116389839,rs11800196 ,rs137852607
DEPOSITNA
REF9748235, 17464953, 19725875
TEMP (in Celsius)25
pI2
pH04-May
Catalytic Nucleophilecarbonyl oxygen of the substrate
Catalytic Acid/Base
Glu/Asp
Substrate4methylumbelliferyl+2acetamido4O(2acetamido2,4dideoxybetaDxylohexopyranosyl)2deoxybetaD-glucopyranoside + H2O
Product4methylumbelliferol + 2-acetamido4O(2-acetamido 2,4-dideoxybetaD-xylohexopyranosyl)2-deoxybetaD-glucopyranoside
Structure(PDB/Phyre2_ID)5HBF
kM0.03
DRUGIsopropyl alcohol,N-AcetylD-glucosamine,Water
SEQ LENGTH466
AA SEQMVRSVAWAGFMVLLMIPWGSAAKLVCYFTNWAQYRQGEARFLPKDLDPSLCTHLIYAFAGMTNHQLSTTEWNDETLYQEFNGLKKMNPKLKTLLAIGGWNFGTQKFTDMVATANNRQTFVNSAIRFLRKYSFDGLDLDWEYPGSQGSPAVDKERFTTLVQDLANAFQQEAQTSGKERLLLSAAVPAGQTYVDAGYEVDKIAQNLDFVNLMAYDFHGSWEKVTGHNSPLYKRQEESGAAASLNVDAAVQQWLKGTPASKLILGMPTYGRSFTLASSSDTRVGAPATGSGTPGPFTKEGGMLAYYEVCSWKGATKQRIQDQKVPYIFRDNQWVGFDDVESFKTKVSYLKQKGLGGAMVWALDLDDFAGFSCNQGRYPLIQTLRQELSLPYLPSGTPELEVPKPGQPSEPEHGPSPGQDTFCQGKADGLYPNPRERSSFYSCAAGRLFQQSCPTGLVFSNSCKCCTWN
MODIFICATIONN-linked Glycosylation:Ser354,Asn100
INHIBITOR2-(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 RESIDUEGlu140
DISULPHIDE BRIDGES*26-51,*307-370,*450-463
PSEUDOGENESNA
MISCELLANEOUSNA
PARALOGSCHI3L1,CHIA ,CHI3L2 ,OVGP1
MECHANISMDouble displacement reaction mechanism with neighbouring group participation
INHERITANCE PATTERNAutosomal recessive
ORGAN AFFECTEDNA
ENZYME LOCATIONNMBH
UniProt IDQ13231