About   Help   FAQ
Idua
Gene Detail
Symbol

Name
ID
Idua
iduronidase, alpha-L-
MGI:96418
Feature Type
protein coding gene
Genetic Map
Chromosome 5
53.24 cM
Detailed Genetic Map ± 1 cM


Mapping data(6)
Sequence Map
Chr5:108660331-108684552 bp, + strand
From VEGA annotation of GRCm38

  24222 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:170  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog; 1 zebrafish

HCOP human homology predictions: IDUA
Protein SuperFamily: L-iduronidase
Gene Tree: Idua

Human
homologs
IDUA, iduronidase, alpha-L-
Orthology source: HomoloGene, HGNC

IDs:
NCBI Gene ID: 3425
neXtProt AC: NX_P35475

Human Synonyms: IDA, MPS1

Human Chr (Location): 4p16.3; chr4:986997-1004557 (+)  GRCh38.p2

Disease Associations: (3) Diseases Associated with Human IDUA

Mutations,
alleles, and
phenotypes
All mutations/alleles(4) : Gene trapped(1) Targeted(3)
Incidental mutations (data from Mutagenetix , APF , CvDC )
 
Targeted mutants show lysosomal storage in multiple tissues, increased urinary GAG, craniofacial and skeletal defects, increased body weight, impaired habituation and long-term memory for aversive training, reduced ventricular function with valve insufficiency, and progressive hearing loss.
 
Human Diseases Modeled in Mice Using Idua (4)    Mutations Annotated to Human Diseases (3)   
Interactions
Idua interacts with 301 markers (Mir1a-1, Mir1a-2, Mir7-1, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (14 annotations)
Process carbohydrate metabolic process, cell morphogenesis, ...
Component extracellular exosome, lysosome
Function hydrolase activity, hydrolase activity, acting on glycosyl bonds, ...
External Resources: FuncBase
Expression
Literature Summary: (1 records)
Data Summary: Results (94)    Tissues (94)    Tissue x Stage Matrix (view)
Assay TypeResults
RNA in situ 94
cDNA source data(8)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: Xenbase idua    NEW 
Molecular
reagents
All nucleic(11) Genomic(3) cDNA(8)
Microarray probesets(5)
Other database
links
VEGA Gene Model OTTMUSG00000027012 (Evidence)
Ensembl Gene Model ENSMUSG00000033540 (Evidence)
Entrez Gene 15932 (Evidence)
DFCI TC1581767, TC1641172, TC1707105
DoTS DT.490894, DT.91438739, DT.94231558, DT.97392239
EC 3.2.1.76
Consensus CDS Project CCDS19516.2, CCDS71635.1
International Mouse Phenotyping Consortium Status Idua
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000027012 VEGA Gene Model | MGI Sequence Detail 24222 C57BL/6J ±  kb
transcript OTTMUST00000066779 VEGA | MGI Sequence Detail 3536 Not Applicable 
polypeptide OTTMUSP00000033514 VEGA | MGI Sequence Detail 643 Not Applicable 

For the selected sequences
All sequences(64) RefSeq(11) UniProt(8)
Polymorphisms
RFLP(6) : SNPs within 2kb(163 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR003961 Fibronectin, type III
InterPro IPR013781 Glycoside hydrolase, catalytic domain
InterPro IPR000514 Glycoside hydrolase, family 39
InterPro IPR017853 Glycoside hydrolase, superfamily
Protein Ontology PR:000008895 alpha-L-iduronidase
References
(Earliest) J:10787 Scott HS, et al., Chromosomal localization of the human alpha-L-iduronidase gene (IDUA) to 4p16.3. Am J Hum Genet. 1990 Nov;47(5):802-7
(Latest) J:206803 Dai M, et al., Platelets are efficient and protective depots for storage, distribution, and delivery of lysosomal enzyme in mice with Hurler Syndrome. Proc Natl Acad Sci U S A. 2014 Feb 18;111(7):2680-5
All references(55)
Disease annotation references (10)
Other
accession IDs
MGD-MRK-11188

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
06/23/2015
MGI 5.22
The Jackson Laboratory