InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: IDUA

Summary

InnateDB Protein

IDBP-6328.5

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

IDUA

Protein Name

iduronidase, alpha-L-

Synonyms

IDA; MPS1;

Species

Homo sapiens

Ensembl Protein

ENSP00000247933

InnateDB Gene

IDBG-6326 (IDUA)

Protein Structure

UniProt Annotation

Function

Subcellular Localization

Lysosome.

Disease Associations

Mucopolysaccharidosis 1H (MPS1H) [MIM:607014]: A severe form of mucopolysaccharidosis type 1, a rare lysosomal storage disease characterized by progressive physical deterioration with urinary excretion of dermatan sulfate and heparan sulfate. Patients with MPS1H usually present, within the first year of life, a combination of hepatosplenomegaly, skeletal deformities, corneal clouding and severe mental retardation. Obstructive airways disease, respiratory infection and cardiac complications usually result in death before 10 years of age. {ECO:0000269PubMed:10466419, ECO:0000269PubMed:10735634, ECO:0000269PubMed:12559846, ECO:0000269PubMed:1301941, ECO:0000269PubMed:15300847, ECO:0000269PubMed:21394825, ECO:0000269PubMed:7550232, ECO:0000269PubMed:7550242, ECO:0000269PubMed:7951228, ECO:0000269PubMed:8019563, ECO:0000269PubMed:8328452, ECO:0000269PubMed:8401515, ECO:0000269Ref.18}. Note=The disease is caused by mutations affecting the gene represented in this entry.Mucopolysaccharidosis 1H/S (MPS1H/S) [MIM:607015]: A form of mucopolysaccharidosis type 1, a rare lysosomal storage disease characterized by progressive physical deterioration with urinary excretion of dermatan sulfate and heparan sulfate. MPS1H/S represents an intermediate phenotype of the MPS1 clinical spectrum. It is characterized by relatively little neurological involvement, but most of the somatic symptoms described for severe MPS1 develop in the early to mid-teens, causing considerable loss of mobility. Note=The disease is caused by mutations affecting the gene represented in this entry.Mucopolysaccharidosis 1S (MPS1S) [MIM:607016]: A mild form of mucopolysaccharidosis type 1, a rare lysosomal storage disease characterized by progressive physical deterioration with urinary excretion of dermatan sulfate and heparan sulfate. Patients with MPS1S may have little or no neurological involvement, normal stature and life span, but present development of joints stiffness, mild hepatosplenomegaly, aortic valve disease and corneal clouding. {ECO:0000269PubMed:12559846, ECO:0000269PubMed:15300847, ECO:0000269PubMed:21394825, ECO:0000269PubMed:7550232, ECO:0000269PubMed:7550242, ECO:0000269PubMed:8213840}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Ubiquitous.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003940	L-iduronidase activity
GO:0004553	hydrolase activity, hydrolyzing O-glycosyl compounds
GO:0005102	receptor binding
GO:0005515	protein binding

Biological Process

GO:0000902	cell morphogenesis
GO:0005975	carbohydrate metabolic process
GO:0005984	disaccharide metabolic process
GO:0006027	glycosaminoglycan catabolic process
GO:0007040	lysosome organization
GO:0030203	glycosaminoglycan metabolic process
GO:0030204	chondroitin sulfate metabolic process
GO:0030207	chondroitin sulfate catabolic process
GO:0030209	dermatan sulfate catabolic process
GO:0035108	limb morphogenesis
GO:0044281	small molecule metabolic process
GO:0048705	skeletal system morphogenesis
GO:0048878	chemical homeostasis