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 1 - 10 of 174 in total
DO ID Disease Name Source
DOID:10969 hemiplegia
DOID:0014667 disease of metabolism
DOID:0050387 nonpapillary renal cell carcinoma
DOID:0050466 Loeys-Dietz syndrome
DOID:0050589 inflammatory bowel disease
DOID:0050590 severe congenital neutropenia
DOID:0050700 cardiomyopathy
DOID:0050726 tyrosinemia type I
DOID:0050848 obstructive sleep apnea
DOID:0050902 medulloblastoma
The Human Phenotype Ontology
Displaying entries 21 - 30 of 117 in total
HPO ID HPO Term
HP:0000455 Broad nasal tip
HP:0000463 Anteverted nares
HP:0000470 Short neck
HP:0000488 Retinopathy
HP:0000501 Glaucoma
HP:0000546 Retinal degeneration
HP:0000574 Thick eyebrow
HP:0000691 Microdontia
HP:0000716 Depression
HP:0000772 Abnormal rib morphology
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