Welcome to Entry Card of Lysosomal Enzymes


Details of RareLSD ID 1064
RareLSD_Id1064
ENZYMEThiol reductase, ginterferon inducible
GENEIFI30
E.C.NUMBER1.8.-.-
FAMILYGILT
CYTOGENETICS19p13.11
DISEASEatrophic rhinitis
SNPrs1000028829,rs1001072455,rs1001423445,rs1001838530,rs1001978587
DEPOSITNA
REF10639150, 10852914, 3136170
TEMP (in Celsius)37
pINA
pH45
Catalytic NucleophileCys49
Catalytic Acid/Base
Cys46
SubstrateF(ab')2 fragment
ProductNA
Structure(PDB/Phyre2_ID)c3ghaA
kM10
DRUGNA
SEQ LENGTH250
AA SEQMTLSPLLLFLPPLLLLLDVPTAAVQASPLQALDFFGNGPPVNYKTGNLYLRGPLKKSNAPLVNVTLYYEALCGGCRAFLIRELFPTWLLVMEILNVTLVPYGNAQEQNVSGRWEFKCQHGEEECKFNKVEACVLDELDMELAFLTIVCMEEFEDMERSLPLCLQLYAPGLSPDTIMECAMGDRGMQLMHANAQRTDALQPPHEYVPWVTVNGKPLEDQTQLLTLVCQLYQGKKPDVCPSSTSSLRSVCFK
MODIFICATIONN-linked Glycosylation:Asn63,Asn95,Asn108
INHIBITORNA
ACTIVE SITE RESIDUENA
DISULPHIDE BRIDGES*72-75
PSEUDOGENESNA
MISCELLANEOUSBoth precursor form and mature form have thiol reductase activity
PARALOGSNA
MECHANISMNA
INHERITANCE PATTERNAutosomal Dominant
ORGAN AFFECTEDNose
ENZYME LOCATIONOD
UniProt IDP13284