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 61 - 70 of 174 in total
DO ID Disease Name Source
DOID:11984 hypertrophic cardiomyopathy
DOID:12139 dysthymic disorder
DOID:1222 cartilage disease
DOID:1227 neutropenia
DOID:12603 acute leukemia
DOID:12721 multiple epiphyseal dysplasia
DOID:12798 mucopolysaccharidosis
DOID:12799 mucopolysaccharidosis II
DOID:12800 mucopolysaccharidosis VI
DOID:12801 mucopolysaccharidosis III
The Human Phenotype Ontology
Displaying entries 1 - 10 of 117 in total
HPO ID HPO Term
HP:0000007 Autosomal recessive inheritance
HP:0000023 Inguinal hernia
HP:0000154 Wide mouth
HP:0000158 Macroglossia
HP:0000212 Gingival overgrowth
HP:0000232 Everted lower lip vermilion
HP:0000238 Hydrocephalus
HP:0000256 Macrocephaly
HP:0000268 Dolichocephaly
HP:0000280 Coarse facial features
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