Version 5.4
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
IDBP-6328
iduronidase, alpha-L-
IDBP-476751
iduronidase, alpha-L-
IDBP-477380
iduronidase, alpha-L-
IDBP-475631
iduronidase, alpha-L-
IDBP-483068
iduronidase, alpha-L-
IDBP-479967
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
ENSMUSG00000033540
View Gene Order
ENSBTAG00000007002
Not yet available
Pathways
NETPATH
REACTOME
REACT_120888
CS/DS degradation pathway
REACT_120752
HS-GAG degradation pathway
REACT_147853
Mucopolysaccharidoses pathway
REACT_200783
Myoclonic epilepsy of Lafora pathway
REACT_267711
Defective B4GALT7 causes EDS, progeroid type pathway
REACT_267713
Defective CHST6 causes MCDC1 pathway
REACT_147719
MPS VI - Maroteaux-Lamy syndrome pathway
REACT_267645
Defective PAPSS2 causes SEMD-PA pathway
REACT_474
Metabolism of carbohydrates pathway
REACT_147749
MPS IIID - Sanfilippo syndrome D pathway
REACT_267662
Defective SLC26A2 causes chondrodysplasias pathway
REACT_147739
MPS IX - Natowicz syndrome pathway
REACT_267674
Defective EXT1 causes exostoses 1, TRPS2 and CHDS pathway
REACT_267642
Defective CHST14 causes EDS, musculocontractural type pathway
REACT_121314
Heparan sulfate/heparin (HS-GAG) metabolism pathway
REACT_147798
MPS IV - Morquio syndrome B pathway
REACT_267659
Defective B3GAT3 causes JDSSDHD pathway
REACT_267708
Defective CHST3 causes SEDCJD pathway
REACT_147825
MPS IV - Morquio syndrome A pathway
REACT_267654
Defective EXT2 causes exostoses 2 pathway
REACT_267707
Diseases associated with glycosaminoglycan metabolism pathway
REACT_147734
MPS II - Hunter syndrome pathway
REACT_267635
Defective B4GALT1 causes B4GALT1-CDG (CDG-2d) pathway
REACT_121315
Glycosaminoglycan metabolism pathway
REACT_267705
Diseases of glycosylation pathway
REACT_121206
Chondroitin sulfate/dermatan sulfate metabolism pathway
REACT_147759
MPS VII - Sly syndrome pathway
REACT_267682
Defective CHSY1 causes TPBS pathway
REACT_111217
Metabolism pathway
REACT_147857
MPS I - Hurler syndrome pathway
REACT_147753
MPS IIIA - Sanfilippo syndrome A pathway
REACT_147860
MPS IIIC - Sanfilippo syndrome C pathway
REACT_116125
Disease pathway
REACT_200833
Glycogen storage diseases pathway
REACT_147788
MPS IIIB - Sanfilippo syndrome B pathway
KEGG
hsa00531
Glycosaminoglycan degradation pathway
hsa04142
Lysosome pathway
INOH
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

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca