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 chicken; 1 zebrafish

Protein SuperFamily: L-iduronidase
Gene Tree: Idua

Human homologs

Human Homolog		IDUA, iduronidase, alpha-L-
NCBI Gene ID		3425
neXtProt AC		NX_P35475
Human Synonyms		IDA, MPS1
Human Chr (Location)		4p16.3; chr4:980785-998317 (+)  GRCh37.p10
Disease Associations		(3) Diseases Associated with Human IDUA

Alleles and phenotypes

All alleles(4) : Targeted(3) Gene trapped(1)
 

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 Using Mouse Idua (4)    Alleles Annotated to Human Diseases(3)   

Gene Ontology (GO) classifications

All GO classifications: (13 annotations)

Process	carbohydrate metabolic process, cell morphogenesis, ...
Component	lysosome
Function	catalytic activity, hydrolase activity, ...

External Resources: FuncBase

Expression

Literature Summary: (1 records)
Data Summary: Results (94)    Tissues (94)   
Theiler Stages: 22

Assay Type	Results
RNA in situ	94

cDNA source data(8)
External Resources: Allen Institute   GEO   ArrayExpress

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
International Mouse Knockout Project Status	Idua

Sequences

Length	Strain/Species
genomic	OTTMUSG00000027012	VEGA Gene Model | MGI Sequence Detail	24222	C57BL/6J
transcript	OTTMUST00000066779	VEGA | MGI Sequence Detail	3536	Not Applicable
polypeptide	OTTMUSP00000033514	VEGA | MGI Sequence Detail	643	Not Applicable

All sequences(55) RefSeq(2) UniProt(8)

Polymorphisms

RFLP(6) : SNPs(42 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
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:190495 Baldo G, et al., Evidence of a progressive motor dysfunction in Mucopolysaccharidosis type I mice. Behav Brain Res. 2012 Jul 15;233(1):169-75
All references(53)

Other accession IDs

MGD-MRK-11188