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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

JoGo

IDUA

TogoVar

IDUA

Annotation

Keyword

3D-structure
Alternative splicing
Disease variant
Disulfide bond
Glycoprotein
Glycosidase
Lysosome
Mucopolysaccharidosis
Proteomics identification
Reference proteome
Signal

Proteins

Displaying 1 entry
UniProt	Protein Name
P35475

Annotation information from UniProt.

Gene Ontology (GO)

Displaying entries **1 - 5** of 10 in total

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GO Term	Evidence Code	PMID
carbohydrate metabolic process	IEA
disaccharide metabolic process	TAS
glycosaminoglycan catabolic process	IEA
heparan sulfate proteoglycan catabolic process	TAS
heparan sulfate proteoglycan catabolic process	IEA

GO Hierarchy

biological process

cellular process [inference]

metabolic process [inference]

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]

carbohydrate derivative catabolic process [inference]

aminoglycan catabolic process [inference]

glycosaminoglycan catabolic process

glycoprotein catabolic process [inference]

proteoglycan catabolic process [inference]

macromolecule metabolic process [inference]

aminoglycan metabolic process [inference]

aminoglycan catabolic process [inference]

glycosaminoglycan catabolic process

glycosaminoglycan metabolic process [inference]

glycosaminoglycan 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]

protein metabolic process [inference]

glycoprotein metabolic process [inference]

proteoglycan metabolic process [inference]

proteoglycan catabolic process [inference]

heparan sulfate proteoglycan metabolic process [inference]

heparan sulfate proteoglycan catabolic process

heparin proteoglycan metabolic process [inference]

heparin proteoglycan catabolic process

dermatan sulfate proteoglycan metabolic process [inference]

dermatan sulfate proteoglycan catabolic process

glycoprotein catabolic process [inference]

proteoglycan catabolic process [inference]

protein catabolic process [inference]

glycoprotein catabolic process [inference]

proteoglycan catabolic process [inference]

primary metabolic process [inference]

carbohydrate metabolic process

oligosaccharide metabolic process [inference]

disaccharide metabolic process

protein metabolic process [inference]

glycoprotein metabolic process [inference]

proteoglycan metabolic process [inference]

proteoglycan catabolic process [inference]

heparan sulfate proteoglycan metabolic process [inference]

heparan sulfate proteoglycan catabolic process

heparin proteoglycan metabolic process [inference]

heparin proteoglycan catabolic process

dermatan sulfate proteoglycan metabolic process [inference]

dermatan sulfate proteoglycan catabolic process

glycoprotein catabolic process [inference]

proteoglycan catabolic process [inference]

protein catabolic process [inference]

glycoprotein catabolic process [inference]

proteoglycan catabolic process [inference]

carbohydrate derivative metabolic process [inference]

aminoglycan metabolic process [inference]

aminoglycan catabolic process [inference]

glycosaminoglycan catabolic process

glycosaminoglycan metabolic process [inference]

glycosaminoglycan catabolic process

glycoprotein metabolic process [inference]

proteoglycan metabolic process [inference]

proteoglycan catabolic process [inference]

heparan sulfate proteoglycan metabolic process [inference]

heparan sulfate proteoglycan catabolic process

heparin proteoglycan metabolic process [inference]

heparin proteoglycan catabolic process

dermatan sulfate proteoglycan metabolic process [inference]

dermatan sulfate proteoglycan catabolic process

glycoprotein catabolic process [inference]

proteoglycan catabolic process [inference]

carbohydrate derivative catabolic process [inference]

aminoglycan catabolic process [inference]

glycosaminoglycan catabolic process

glycoprotein catabolic process [inference]

proteoglycan catabolic process [inference]

Displaying **all 4** entries
GO Term	Evidence Code	PMID
lysosome	IEA
lysosomal lumen	TAS
lysosomal lumen	IEA
extracellular exosome	HDA

GO Hierarchy

cellular component

cellular anatomical structure [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

intracellular membrane-bounded organelle [inference]

vacuole [inference]

lytic vacuole [inference]

lysosome

extracellular membrane-bounded organelle [inference]

extracellular vesicle [inference]

extracellular exosome

intracellular organelle [inference]

intracellular membrane-bounded organelle [inference]

vacuole [inference]

lytic vacuole [inference]

lysosome

extracellular organelle [inference]

extracellular membrane-bounded organelle [inference]

extracellular vesicle [inference]

extracellular exosome

Displaying entries **1 - 5** of 7 in total

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GO Term	Evidence Code	PMID
L-iduronidase activity	EXP
L-iduronidase activity	TAS
L-iduronidase activity	IDA
L-iduronidase activity	IBA
L-iduronidase activity	IEA

GO Hierarchy

molecular function

catalytic activity [inference]

hydrolase activity [inference]

hydrolase activity, acting on glycosyl bonds [inference]

hydrolase activity, hydrolyzing O-glycosyl compounds

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: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
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

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:607015	Hurler-Scheie syndrome
ORPHA:93473	Hurler syndrome
ORPHA:93474	Scheie syndrome
OMIM:607016	Scheie syndrome
ORPHA:93476	Hurler-Scheie syndrome
OMIM:607014	Hurler syndrome

PubChem Disease

GHR Health Conditions

Mucopolysaccharidosis type I

MedGen Diseases

OMIM Phenotypes

KEGG Diseases

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

GlyTouCan

GlyComb

GlycoPOST

UniCarb-DR

LM-GlycoRepo

All Resources

Other Information

Tools

Search Tools

Guidelines

Summary

External Links

Annotation

OrthoDB (Group)

KEGG BRITE Database

PubChem Disease

International Collaboration

Acknowledgements