alpha-L-iduronidase

Summary
Gene Symbol
  • IDUA
Aliases
  • MPS1
  • MPSI
  • mucopolysaccharidosis type I
Organism
Homo sapiens (human)
External Links
NCBI Gene
3425
HGNC
5391
KEGG Gene ID
hsa:3425
PubChem
3425
Alliance of Genome Resources
Annotation
Keyword
  • 3D-structure
  • Alternative splicing
  • Disease variant
  • Disulfide bond
  • Glycoprotein
  • Glycosidase
  • Lysosome
  • Mucopolysaccharidosis
  • Reference proteome
  • Signal
Proteins
Displaying 1 entry
UniProt Protein Name
P35475
Gene Ontology (GO)
GO Hierarchy
Human Protein Atlas
ENSG00000127415

soft tissue soft tissue blood blood blood blood blood blood blood blood blood blood blood blood blood blood lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node kidney kidney adrenal gland adrenal gland breast breast duodenum stomach small intestine colon rectum appendix esophagus eye eye salivary gland nasopharynx nasopharynx tongue tonsil tonsil tonsil hair skin adipose tissue adipose tissue adipose tissue spinal cord oral mucosa lung lung heart bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus liver pancreas thyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland spleen gallbladder ductus deferens ductus deferens seminal vesicle seminal vesicle seminal vesicle seminal vesicle testis testis epididymis epididymis brain smooth muscle urinary bladder prostate bone marrow skeletal muscle skeletal muscle skeletal muscle skeletal muscle skeletal muscle thymus thymus cartilage sole of foot sole of foot soft tissue blood blood blood blood blood blood blood blood blood blood blood blood lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lactating breast lactating breast kidney kidney adrenal gland adrenal gland duodenum stomach small intestine colon rectum appendix esophagus eye eye salivary gland salivary gland salivary gland salivary gland salivary gland salivary gland nasopharynx tongue tonsil tonsil hair skin adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue spinal cord oral mucosa lung lung heart bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus liver pancreas thyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland spleen gallbladder brain skeletal muscle skeletal muscle skeletal muscle skeletal muscle skeletal muscle thymus thymus smooth muscle urinary bladder vagina ovary ovary fallopian tube fallopian tube endometrium placenta cervix cervix bone marrow cartilage sole of foot sole of foot olfactory region cerebral cortex cerebellum medulla pons midbrain pituitary gland hypothalamus amygdala thalamus choroid plexus choroid plexus corpus callosum basal ganglia substantia nigra dorsal raphe dorsal raphe dorsal raphe dorsal raphe dorsal raphe dorsal raphe caudate hippocampus retina retina

Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.

KEGG BRITE Database
Orthology
K01217
Name
L-iduronidase [EC:3.2.1.76]
References
Reactions
Displaying 1 entry
KEGG Reaction Enzyme Acceptor Product
R07822
Disease
Disease Ontology
Displaying entries 11 - 20 of 174 in total
DO ID Disease Name Source
DOID:0050949 autosomal recessive hypophosphatemic rickets
DOID:0060215 Balo concentric sclerosis
DOID:0060222 Scheie syndrome
DOID:0060249 scoliosis
DOID:0060320 inguinal hernia
DOID:0060357 chylomicron retention disease
DOID:0060891 Parkinson's disease 19A
DOID:0060895 Parkinson's disease 4
DOID:0060896 Parkinson's disease 23
DOID:0080001 bone disease
The Human Phenotype Ontology
Displaying entries 101 - 110 of 117 in total
HPO ID HPO Term
HP:0007957 Corneal opacity
HP:0008155 Mucopolysacchariduria
HP:0008301 Dermatan sulfate excretion in urine
HP:0008802 Hypoplasia of the femoral head
HP:0009697 Contracture of the distal interphalangeal joint of the fingers
HP:0009811 Abnormality of the elbow
HP:0011400 Abnormal CNS myelination
HP:0011463 Childhood onset
HP:0011968 Feeding difficulties
HP:0012185 Constrictive median neuropathy
Displaying all 6 entries
Disease ID Disease Name
OMIM:607016
  • Scheie syndrome
ORPHA:93473
  • Hurler syndrome
ORPHA:93476
  • Hurler-Scheie syndrome
OMIM:607014
  • Hurler syndrome
OMIM:607015
  • Hurler-Scheie syndrome
ORPHA:93474
  • Scheie syndrome

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024