|
gptkbp:instanceOf
|
gptkb:protein
|
|
gptkbp:alternativeName
|
gptkb:EC_3.2.1.76
gptkb:IDUA
gptkb:L-iduronidase
|
|
gptkbp:associatedWith
|
gptkb:Mucopolysaccharidosis_type_I
|
|
gptkbp:disulfideBond
|
present
|
|
gptkbp:Entrez_Gene_ID
|
3425
|
|
gptkbp:enzyme
|
true
|
|
gptkbp:enzymeCommissionNumber
|
3.2.1.76
|
|
gptkbp:expressedIn
|
gptkb:Heart
gptkb:Brain
gptkb:Spleen
gptkb:Chorion
gptkb:Fibroblast
gptkb:Leukocyte
gptkb:Testis
gptkb:Placenta
Liver
Kidney
Lung
|
|
gptkbp:fullName
|
gptkb:Alpha-L-iduronidase
|
|
gptkbp:function
|
Lysosomal enzyme that catalyzes the hydrolysis of terminal alpha-L-iduronic acid residues in glycosaminoglycans
|
|
gptkbp:gene
|
gptkb:IDUA
|
|
gptkbp:glycosylation
|
N-linked
|
|
gptkbp:has3DStructure
|
true
|
|
gptkbp:hasIsoform
|
2
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
IDUA HUMAN
|
|
gptkbp:isReviewedInUniprot
|
true
|
|
gptkbp:length
|
653 amino acids
|
|
gptkbp:locatedOnChromosome
|
gptkb:4p16.3
|
|
gptkbp:molecularWeight
|
73 kDa
|
|
gptkbp:mutationAssociatedWith
|
Deficiency causes Hurler syndrome, Scheie syndrome, and Hurler-Scheie syndrome
|
|
gptkbp:OMIM
|
252800
|
|
gptkbp:organism
|
gptkb:Homo_sapiens
|
|
gptkbp:orthologInMouse
|
gptkb:Idua
|
|
gptkbp:pathway
|
Glycosaminoglycan degradation
|
|
gptkbp:PDB
|
gptkb:4JJO
4JJS
4JXP
|
|
gptkbp:postTranslationalModification
|
Disulfide bond
Glycosylation
Signal peptide cleavage
|
|
gptkbp:sequenceStatus
|
Reviewed
|
|
gptkbp:signalPeptide
|
true
|
|
gptkbp:structure
|
Monomer
|
|
gptkbp:subcellularLocation
|
gptkb:Lysosome
|
|
gptkbp:tissue_specificity
|
Ubiquitous
|
|
gptkbp:UniProtID
|
P35475
|
|
gptkbp:bfsParent
|
gptkb:IDUA_gene
|
|
gptkbp:bfsLayer
|
6
|