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Submissions

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

HGNC:5391

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

Annotation information from UniProt.

Gene Ontology (GO)

Displaying **all 5** entries
GO Term	Evidence Code	PMID
disaccharide metabolic process	TAS	2470345
glycosaminoglycan catabolic process	TAS
heparan sulfate proteoglycan catabolic process	TAS
dermatan sulfate catabolic process	IDA	24036510
heparin catabolic process	IMP	21873421

GO Hierarchy

biological process

metabolic process [inference]

nitrogen compound metabolic process [inference]

organonitrogen compound metabolic process [inference]

aminoglycan metabolic process [inference]

aminoglycan catabolic process [inference]

glycosaminoglycan catabolic process

glycosaminoglycan metabolic process [inference]

glycosaminoglycan catabolic process

mucopolysaccharide metabolic process [inference]

heparin metabolic process [inference]

heparin catabolic process

dermatan sulfate metabolic process [inference]

dermatan sulfate catabolic process

protein metabolic process [inference]

glycoprotein metabolic process [inference]

proteoglycan metabolic process [inference]

proteoglycan catabolic process [inference]

heparan sulfate proteoglycan catabolic process

glycoprotein catabolic process [inference]

proteoglycan catabolic process [inference]

heparan sulfate proteoglycan catabolic process

protein catabolic process [inference]

glycoprotein catabolic process [inference]

proteoglycan catabolic process [inference]

heparan sulfate proteoglycan catabolic process

organonitrogen compound catabolic process [inference]

aminoglycan catabolic process [inference]

glycosaminoglycan catabolic process

protein catabolic process [inference]

glycoprotein catabolic process [inference]

proteoglycan catabolic process [inference]

heparan sulfate proteoglycan catabolic process

catabolic process [inference]

cellular catabolic process [inference]

organic acid catabolic process [inference]

carboxylic acid catabolic process [inference]

monocarboxylic acid catabolic process [inference]

dermatan sulfate catabolic process

sulfur compound catabolic process [inference]

small molecule catabolic process [inference]

organic acid catabolic process [inference]

carboxylic acid catabolic process [inference]

monocarboxylic acid catabolic process [inference]

dermatan sulfate catabolic process

monosaccharide catabolic process [inference]

dermatan sulfate catabolic process

organic substance catabolic process [inference]

macromolecule catabolic process [inference]

aminoglycan catabolic process [inference]

glycosaminoglycan catabolic process

protein catabolic process [inference]

glycoprotein catabolic process [inference]

proteoglycan catabolic process [inference]

heparan sulfate proteoglycan catabolic process

carbohydrate catabolic process [inference]

monosaccharide catabolic process [inference]

dermatan sulfate catabolic process

organic acid catabolic process [inference]

carboxylic acid catabolic process [inference]

monocarboxylic acid catabolic process [inference]

dermatan sulfate catabolic process

carbohydrate derivative catabolic process [inference]

aminoglycan catabolic process [inference]

glycosaminoglycan catabolic process

glycoprotein catabolic process [inference]

proteoglycan catabolic process [inference]

heparan sulfate proteoglycan catabolic process

amino disaccharide catabolic process [inference]

dermatan sulfate catabolic process

organonitrogen compound catabolic process [inference]

aminoglycan catabolic process [inference]

glycosaminoglycan catabolic process

protein catabolic process [inference]

glycoprotein catabolic process [inference]

proteoglycan catabolic process [inference]

heparan sulfate proteoglycan catabolic process

cellular metabolic process [inference]

organic acid metabolic process [inference]

organic acid catabolic process [inference]

carboxylic acid catabolic process [inference]

monocarboxylic acid catabolic process [inference]

dermatan sulfate catabolic process

oxoacid metabolic process [inference]

carboxylic acid metabolic process [inference]

monocarboxylic acid metabolic process [inference]

dermatan sulfate metabolic process [inference]

dermatan sulfate catabolic process

monocarboxylic acid catabolic process [inference]

dermatan sulfate catabolic process

carboxylic acid catabolic process [inference]

monocarboxylic acid catabolic process [inference]

dermatan sulfate catabolic process

sulfur compound metabolic process [inference]

heparin metabolic process [inference]

heparin catabolic process

dermatan sulfate metabolic process [inference]

dermatan sulfate catabolic process

sulfur compound catabolic process [inference]

cellular catabolic process [inference]

organic acid catabolic process [inference]

carboxylic acid catabolic process [inference]

monocarboxylic acid catabolic process [inference]

dermatan sulfate catabolic process

sulfur compound catabolic process [inference]

primary metabolic process [inference]

carbohydrate metabolic process [inference]

monosaccharide metabolic process [inference]

dermatan sulfate metabolic process [inference]

dermatan sulfate catabolic process

monosaccharide catabolic process [inference]

dermatan sulfate catabolic process

oligosaccharide metabolic process [inference]

disaccharide metabolic process

carbohydrate catabolic process [inference]

monosaccharide catabolic process [inference]

dermatan sulfate catabolic process

protein metabolic process [inference]

glycoprotein metabolic process [inference]

proteoglycan metabolic process [inference]

proteoglycan catabolic process [inference]

heparan sulfate proteoglycan catabolic process

glycoprotein catabolic process [inference]

proteoglycan catabolic process [inference]

heparan sulfate proteoglycan catabolic process

protein catabolic process [inference]

glycoprotein catabolic process [inference]

proteoglycan catabolic process [inference]

heparan sulfate proteoglycan catabolic process

small molecule metabolic process [inference]

monosaccharide metabolic process [inference]

dermatan sulfate metabolic process [inference]

dermatan sulfate catabolic process

monosaccharide catabolic process [inference]

dermatan sulfate catabolic process

organic acid metabolic process [inference]

organic acid catabolic process [inference]

carboxylic acid catabolic process [inference]

monocarboxylic acid catabolic process [inference]

dermatan sulfate catabolic process

oxoacid metabolic process [inference]

carboxylic acid metabolic process [inference]

monocarboxylic acid metabolic process [inference]

dermatan sulfate metabolic process [inference]

dermatan sulfate catabolic process

monocarboxylic acid catabolic process [inference]

dermatan sulfate catabolic process

carboxylic acid catabolic process [inference]

monocarboxylic acid catabolic process [inference]

dermatan sulfate catabolic process

small molecule catabolic process [inference]

organic acid catabolic process [inference]

carboxylic acid catabolic process [inference]

monocarboxylic acid catabolic process [inference]

dermatan sulfate catabolic process

monosaccharide catabolic process [inference]

dermatan sulfate catabolic process

organic substance metabolic process [inference]

carbohydrate metabolic process [inference]

monosaccharide metabolic process [inference]

dermatan sulfate metabolic process [inference]

dermatan sulfate catabolic process

monosaccharide catabolic process [inference]

dermatan sulfate catabolic process

oligosaccharide metabolic process [inference]

disaccharide metabolic process

carbohydrate catabolic process [inference]

monosaccharide catabolic process [inference]

dermatan sulfate catabolic process

organic acid metabolic process [inference]

organic acid catabolic process [inference]

carboxylic acid catabolic process [inference]

monocarboxylic acid catabolic process [inference]

dermatan sulfate catabolic process

oxoacid metabolic process [inference]

carboxylic acid metabolic process [inference]

monocarboxylic acid metabolic process [inference]

dermatan sulfate metabolic process [inference]

dermatan sulfate catabolic process

monocarboxylic acid catabolic process [inference]

dermatan sulfate catabolic process

carboxylic acid catabolic process [inference]

monocarboxylic acid catabolic process [inference]

dermatan sulfate catabolic process

macromolecule metabolic process [inference]

aminoglycan metabolic process [inference]

aminoglycan catabolic process [inference]

glycosaminoglycan catabolic process

glycosaminoglycan metabolic process [inference]

glycosaminoglycan catabolic process

mucopolysaccharide metabolic process [inference]

heparin metabolic process [inference]

heparin catabolic process

dermatan sulfate metabolic process [inference]

dermatan sulfate catabolic process

macromolecule catabolic process [inference]

aminoglycan catabolic process [inference]

glycosaminoglycan catabolic process

protein catabolic process [inference]

glycoprotein catabolic process [inference]

proteoglycan catabolic process [inference]

heparan sulfate proteoglycan catabolic process

protein metabolic process [inference]

glycoprotein metabolic process [inference]

proteoglycan metabolic process [inference]

proteoglycan catabolic process [inference]

heparan sulfate proteoglycan catabolic process

glycoprotein catabolic process [inference]

proteoglycan catabolic process [inference]

heparan sulfate proteoglycan catabolic process

protein catabolic process [inference]

glycoprotein catabolic process [inference]

proteoglycan catabolic process [inference]

heparan sulfate proteoglycan catabolic process

carbohydrate derivative metabolic process [inference]

aminoglycan metabolic process [inference]

aminoglycan catabolic process [inference]

glycosaminoglycan catabolic process

glycosaminoglycan metabolic process [inference]

glycosaminoglycan catabolic process

mucopolysaccharide metabolic process [inference]

heparin metabolic process [inference]

heparin catabolic process

dermatan sulfate metabolic process [inference]

dermatan sulfate catabolic process

glycoprotein metabolic process [inference]

proteoglycan metabolic process [inference]

proteoglycan catabolic process [inference]

heparan sulfate proteoglycan catabolic process

glycoprotein catabolic process [inference]

proteoglycan catabolic process [inference]

heparan sulfate proteoglycan catabolic process

amino disaccharide metabolic process [inference]

dermatan sulfate metabolic process [inference]

dermatan sulfate catabolic process

amino disaccharide catabolic process [inference]

dermatan sulfate catabolic process

carbohydrate derivative catabolic process [inference]

aminoglycan catabolic process [inference]

glycosaminoglycan catabolic process

glycoprotein catabolic process [inference]

proteoglycan catabolic process [inference]

heparan sulfate proteoglycan catabolic process

amino disaccharide catabolic process [inference]

dermatan sulfate catabolic process

organonitrogen compound metabolic process [inference]

aminoglycan metabolic process [inference]

aminoglycan catabolic process [inference]

glycosaminoglycan catabolic process

glycosaminoglycan metabolic process [inference]

glycosaminoglycan catabolic process

mucopolysaccharide metabolic process [inference]

heparin metabolic process [inference]

heparin catabolic process

dermatan sulfate metabolic process [inference]

dermatan sulfate catabolic process

protein metabolic process [inference]

glycoprotein metabolic process [inference]

proteoglycan metabolic process [inference]

proteoglycan catabolic process [inference]

heparan sulfate proteoglycan catabolic process

glycoprotein catabolic process [inference]

proteoglycan catabolic process [inference]

heparan sulfate proteoglycan catabolic process

protein catabolic process [inference]

glycoprotein catabolic process [inference]

proteoglycan catabolic process [inference]

heparan sulfate proteoglycan catabolic process

organonitrogen compound catabolic process [inference]

aminoglycan catabolic process [inference]

glycosaminoglycan catabolic process

protein catabolic process [inference]

glycoprotein catabolic process [inference]

proteoglycan catabolic process [inference]

heparan sulfate proteoglycan catabolic process

organic substance catabolic process [inference]

macromolecule catabolic process [inference]

aminoglycan catabolic process [inference]

glycosaminoglycan catabolic process

protein catabolic process [inference]

glycoprotein catabolic process [inference]

proteoglycan catabolic process [inference]

heparan sulfate proteoglycan catabolic process

carbohydrate catabolic process [inference]

monosaccharide catabolic process [inference]

dermatan sulfate catabolic process

organic acid catabolic process [inference]

carboxylic acid catabolic process [inference]

monocarboxylic acid catabolic process [inference]

dermatan sulfate catabolic process

carbohydrate derivative catabolic process [inference]

aminoglycan catabolic process [inference]

glycosaminoglycan catabolic process

glycoprotein catabolic process [inference]

proteoglycan catabolic process [inference]

heparan sulfate proteoglycan catabolic process

amino disaccharide catabolic process [inference]

dermatan sulfate catabolic process

organonitrogen compound catabolic process [inference]

aminoglycan catabolic process [inference]

glycosaminoglycan catabolic process

protein catabolic process [inference]

glycoprotein catabolic process [inference]

proteoglycan catabolic process [inference]

heparan sulfate proteoglycan catabolic process

cellular process [inference]

cellular metabolic process [inference]

organic acid metabolic process [inference]

organic acid catabolic process [inference]

carboxylic acid catabolic process [inference]

monocarboxylic acid catabolic process [inference]

dermatan sulfate catabolic process

oxoacid metabolic process [inference]

carboxylic acid metabolic process [inference]

monocarboxylic acid metabolic process [inference]

dermatan sulfate metabolic process [inference]

dermatan sulfate catabolic process

monocarboxylic acid catabolic process [inference]

dermatan sulfate catabolic process

carboxylic acid catabolic process [inference]

monocarboxylic acid catabolic process [inference]

dermatan sulfate catabolic process

sulfur compound metabolic process [inference]

heparin metabolic process [inference]

heparin catabolic process

dermatan sulfate metabolic process [inference]

dermatan sulfate catabolic process

sulfur compound catabolic process [inference]

cellular catabolic process [inference]

organic acid catabolic process [inference]

carboxylic acid catabolic process [inference]

monocarboxylic acid catabolic process [inference]

dermatan sulfate catabolic process

sulfur compound catabolic process [inference]

Displaying **all 2** entries
GO Term	Evidence Code	PMID
lysosomal lumen	TAS
extracellular exosome	HDA	23533145

GO Hierarchy

cellular component

cellular anatomical entity [inference]

membrane-enclosed lumen [inference]

organelle lumen [inference]

intracellular organelle lumen [inference]

vacuolar lumen [inference]

lysosomal lumen

organelle [inference]

membrane-bounded organelle [inference]

vesicle [inference]

extracellular vesicle [inference]

extracellular exosome

extracellular membrane-bounded organelle [inference]

extracellular vesicle [inference]

extracellular exosome

extracellular organelle [inference]

extracellular membrane-bounded organelle [inference]

extracellular vesicle [inference]

extracellular exosome

Displaying **all 4** entries
GO Term	Evidence Code	PMID
L-iduronidase activity	TAS
L-iduronidase activity	IDA	24036510
L-iduronidase activity	IBA
signaling receptor binding	IEA

GO Hierarchy

molecular function

catalytic activity [inference]

hydrolase activity [inference]

hydrolase activity, acting on glycosyl bonds [inference]

hydrolase activity, hydrolyzing O-glycosyl compounds [inference]

L-iduronidase activity

binding [inference]

protein binding [inference]

signaling receptor binding

Gene Ontology information from NCBI Gene and UniProt.

OrthoDB (Group)

Group level

Eukaryota

Group Name

Alpha-L-Iduronidase

Functional Category

G: Carbohydrate transport and metabolism
I: Lipid transport and metabolism
K: Transcription

Displaying **all 3** entries
Gene Ontology
L-iduronidase activity
hydrolase activity, acting on glycosyl bonds
hydrolase activity

Displaying **all 6** entries
InterPro
Alpha-L-iduronidase, C-terminal domain
Glycoside hydrolase superfamily
Glycoside hydrolase, family 39
Glycosyl hydrolases family 39, N-terminal catalytic domain
Glycosyl hydrolases family 39, active site
Immunoglobulin-like fold

Human Protein Atlas

ENSG00000127415

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

Data available from v23.0.proteinatlas.org. Image credit: Human Protein Atlas

KEGG BRITE Database

Orthology

K01217

Name

L-iduronidase [EC:3.2.1.76]

References

1946389

Reactions

Displaying 1 entry
KEGG Reaction	Enzyme	Acceptor	Product
R07822	3.2.1.76	G91199CQ	G34586BV

Disease

Disease Ontology

Displaying **all 4** entries
DO ID	Disease Name	Source
DOID:0060222	Scheie syndrome	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0111389	mucopolysaccharidosis Ih/s	Glyco-Disease Genes Database Glyco-Disease Genes Database Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0111390	mucopolysaccharidosis Ih	Glyco-Disease Genes Database Glyco-Disease Genes Database Glyco-Disease Genes Database Alliance of Genome Resources
DOID:12802	mucopolysaccharidosis I	Glyco-Disease Genes Database Glyco-Disease Genes Database Glyco-Disease Genes Database Alliance of Genome Resources

The Human Phenotype Ontology

Displaying entries **1 - 10** of **117** in total

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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
OMIM:607014	Hurler syndrome
OMIM:607015	Hurler-Scheie syndrome
ORPHA:93473	Hurler syndrome
ORPHA:93474	Scheie syndrome
ORPHA:93476	Hurler-Scheie syndrome

PubChem Disease

GHR Health Conditions

Mucopolysaccharidosis type I

MedGen Diseases

OMIM Phenotypes

KEGG Diseases

Gene-Disease-Co-Occurrences-in-Literature (PubChem)

Ortholog

Displaying entries **51 - 60** of 70 in total

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Species	Gene ID	Orthologous MAtrix
Hippocampus comes	109511648	HIPCM06971
Sus scrofa	110262029	PIGXX33168
Seriola dumerili	111228761	SERDU06677
Amphiprion ocellaris	111569438	AMPOC00332
Astatotilapia calliptera	113033837	ASTCA04896
Pseudonaja textilis	113444136	PSETE16776
Bos indicus x Bos taurus	113894593	BOBOX04957
Vombatus ursinus	114023710	VOMUR02745
Echeneis naucrates	115049250	ECHNA20531
Salmo trutta	115200326	SALTR23271

GlyTouCan

GlyComb

GlycoPOST

UniCarb-DR

LM-GlycoRepo

All Resources

Other Information

Tools

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Guidelines

Summary

External Links

Annotation

OrthoDB (Group)

KEGG BRITE Database

PubChem Disease

International Collaboration

Acknowledgements