Homo sapiens Gene: IDUA
Summary
InnateDB Gene IDBG-6326.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol IDUA
Gene Name iduronidase, alpha-L-
Synonyms IDA; MPS1;
Species Homo sapiens
Ensembl Gene ENSG00000127415
Encoded Proteins
iduronidase, alpha-L-
iduronidase, alpha-L-
iduronidase, alpha-L-
iduronidase, alpha-L-
iduronidase, alpha-L-
iduronidase, alpha-L-
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene encodes an enzyme that hydrolyzes the terminal alpha-L-iduronic acid residues of two glycosaminoglycans, dermatan sulfate and heparan sulfate. This hydrolysis is required for the lysosomal degradation of these glycosaminoglycans. Mutations in this gene that result in enzymatic deficiency lead to the autosomal recessive disease mucopolysaccharidosis type I (MPS I). [provided by RefSeq, Jul 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome 4:986997-1004506
Strand Forward strand
Band p16.3
Transcripts
ENST00000247933 ENSP00000247933
ENST00000514698
ENST00000502910 ENSP00000422952
ENST00000508168
ENST00000506561
ENST00000504568 ENSP00000424847
ENST00000509744
ENST00000514192 ENSP00000423685
ENST00000509948 ENSP00000424227
ENST00000514224 ENSP00000425081
ENST00000502829
ENST00000514417
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
Cellular Component
GO:0005764 lysosome
GO:0030135 coated vesicle
GO:0043202 lysosomal lumen
GO:0070062 extracellular vesicular exosome
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
REACTOME
Mucopolysaccharidoses pathway
HS-GAG degradation pathway
Myoclonic epilepsy of Lafora pathway
Defective B4GALT7 causes EDS, progeroid type pathway
Defective CHST6 causes MCDC1 pathway
CS/DS degradation pathway
MPS VI - Maroteaux-Lamy syndrome pathway
Defective PAPSS2 causes SEMD-PA pathway
Metabolism of carbohydrates pathway
MPS IIID - Sanfilippo syndrome D pathway
Defective SLC26A2 causes chondrodysplasias pathway
MPS IX - Natowicz syndrome pathway
Defective EXT1 causes exostoses 1, TRPS2 and CHDS pathway
Defective CHST14 causes EDS, musculocontractural type pathway
Heparan sulfate/heparin (HS-GAG) metabolism pathway
MPS IV - Morquio syndrome B pathway
Defective B3GAT3 causes JDSSDHD pathway
Defective CHST3 causes SEDCJD pathway
MPS IV - Morquio syndrome A pathway
Defective EXT2 causes exostoses 2 pathway
Diseases associated with glycosaminoglycan metabolism pathway
MPS II - Hunter syndrome pathway
Defective B4GALT1 causes B4GALT1-CDG (CDG-2d) pathway
Glycosaminoglycan metabolism pathway
Diseases of glycosylation pathway
Chondroitin sulfate/dermatan sulfate metabolism pathway
MPS VII - Sly syndrome pathway
Defective CHSY1 causes TPBS pathway
Metabolism pathway
MPS I - Hurler syndrome pathway
MPS IIIA - Sanfilippo syndrome A pathway
MPS IIIC - Sanfilippo syndrome C pathway
Disease pathway
Glycogen storage diseases pathway
MPS IIIB - Sanfilippo syndrome B pathway
KEGG
Glycosaminoglycan degradation pathway
Lysosome pathway
INOH
PID BIOCARTA
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.89560
RefSeq NM_000203 XM_006713882
HUGO
OMIM
CCDS CCDS3343
HPRD 02016
IMGT
EMBL
GenPept
RNA Seq Atlas