Entity Details

Primary name IDUA_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionP35475
EntryNameIDUA_HUMAN
FullNameAlpha-L-iduronidase
TaxID9606
Evidenceevidence at protein level
Length653
SequenceStatuscomplete
DateCreated1994-06-01
DateModified2021-06-02

Ontological Relatives

GenesIDUA

GO terms

Show/Hide Table
GOName
GO:0003940 L-iduronidase activity
GO:0004553 hydrolase activity, hydrolyzing O-glycosyl compounds
GO:0005102 signaling receptor binding
GO:0005984 disaccharide metabolic process
GO:0006027 glycosaminoglycan catabolic process
GO:0030135 coated vesicle
GO:0030207 chondroitin sulfate catabolic process
GO:0030209 dermatan sulfate catabolic process
GO:0030211 heparin catabolic process
GO:0043202 lysosomal lumen
GO:0070062 extracellular exosome

Subcellular Location

Show/Hide Table
Subcellular Location
Lysosome

Domains

Show/Hide Table
DomainNameCategoryType
IPR000514 Glycoside hydrolase, family 39FamilyFamily
IPR013783 Immunoglobulin-like foldFamilyHomologous superfamily
IPR017853 Glycoside hydrolase superfamilyFamilyHomologous superfamily

Diseases

Show/Hide Table
Disease IDSourceNameDescription
607016 OMIMMucopolysaccharidosis 1S (MPS1S)A mild form of mucopolysaccharidosis type 1, a rare lysosomal storage disease characterized by progressive physical deterioration with urinary excretion of dermatan sulfate and heparan sulfate. Patients with MPS1S may have little or no neurological involvement, normal stature and life span, but present development of joints stiffness, mild hepatosplenomegaly, aortic valve disease and corneal clouding. The disease is caused by variants affecting the gene represented in this entry.
607015 OMIMMucopolysaccharidosis 1H/S (MPS1H/S)A form of mucopolysaccharidosis type 1, a rare lysosomal storage disease characterized by progressive physical deterioration with urinary excretion of dermatan sulfate and heparan sulfate. MPS1H/S represents an intermediate phenotype of the MPS1 clinical spectrum. It is characterized by relatively little neurological involvement, but most of the somatic symptoms described for severe MPS1 develop in the early to mid-teens, causing considerable loss of mobility. The disease is caused by variants affecting the gene represented in this entry.
607014 OMIMMucopolysaccharidosis 1H (MPS1H)A severe form of mucopolysaccharidosis type 1, a rare lysosomal storage disease characterized by progressive physical deterioration with urinary excretion of dermatan sulfate and heparan sulfate. Patients with MPS1H usually present, within the first year of life, a combination of hepatosplenomegaly, skeletal deformities, corneal clouding and severe mental retardation. Obstructive airways disease, respiratory infection and cardiac complications usually result in death before 10 years of age. The disease is caused by variants affecting the gene represented in this entry.

Drugs

Show/Hide Table
DrugNameSourceType
DB09301 Chondroitin sulfateDrugbanksmall molecule

Interactions

1 interaction

InteractorPartnerSourcesPublicationsLink
IDUA_HUMANMPP3_HUMANHPRD, IntAct16169070 details