Idua iduronidase, alpha-L [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Iduaprovided by MGI
Official Full Name: iduronidase, alpha-Lprovided by MGI
Primary source: MGI:MGI:96418
See related: Ensembl:ENSMUSG00000033540 AllianceGenome:MGI:96418
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: 6030426D08
Summary: Enables L-iduronidase activity. Involved in heparan sulfate proteoglycan catabolic process. Acts upstream of or within several processes, including glycosaminoglycan catabolic process; learning or memory; and skeletal system development. Located in extracellular space. Is active in lysosomal lumen. Used to study mucopolysaccharidosis I and otitis media. Human ortholog(s) of this gene implicated in Scheie syndrome; mucopolysaccharidosis I; mucopolysaccharidosis Ih; and mucopolysaccharidosis Ih/s. Orthologous to human IDUA (alpha-L-iduronidase). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Ubiquitous expression in ovary adult (RPKM 10.1), adrenal adult (RPKM 10.0) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 5 F; 5 53.24 cM

Exon count:: 15

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	5	NC_000071.7 (108808197..108833312)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	5	NC_000071.6 (108660331..108685446)

Chromosome 5 - NC_000071.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Why SNP rs3755955 is associated with human bone mineral density? A molecular and cellular study in bone cells.
Title: Why SNP rs3755955 is associated with human bone mineral density? A molecular and cellular study in bone cells.
This study demonstrated that the distribuation of bis(monoacylglycero)phosphate in brain of mucopolysaccharidosis 1 (Hurler) mouse.
Title: Selective normalisation of regional brain bis(monoacylglycero)phosphate in the mucopolysaccharidosis 1 (Hurler) mouse.
Mucopolysaccharidosis type I, unique structure of accumulated heparan sulfate and increased N-sulfotransferase activity in mice lacking alpha-l-iduronidase.
Title: Mucopolysaccharidosis type I, unique structure of accumulated heparan sulfate and increased N-sulfotransferase activity in mice lacking α-l-iduronidase.
Studies show that mouse Idua-W392X mutation is analogous to the human IDUA-W402X mutation commonly found in MPS I-H patients.
Title: Characterization of an MPS I-H knock-in mouse that carries a nonsense mutation analogous to the human IDUA-W402X mutation.
Data show that late-stage erythroid cells, transduced with a tissue-specific lentiviral vector, can deliver alpha-L-iduronidase continuously and can correct the disease phenotype in both viscera and CNS of MPS I mice.
Title: Reprogramming erythroid cells for lysosomal enzyme production leads to visceral and CNS cross-correction in mice with Hurler syndrome.
IDUA(-/-) mice from adolescence to maturity, exhibited locomotor and anxiety-like compulsive behaviors, spatial learning and memory, visual recognition and short-term non-associative memory retention.
Title: Progression of multiple behavioral deficits with various ages of onset in a murine model of Hurler syndrome.
The results indicate that Idua(-/-) mice present deficits in long-term memory for aversive training and reduced exploratory behavior.
Title: Long-term memory for aversive training is impaired in Idua(-/-) mice, a genetic model of mucopolysaccharidosis type I.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Chemically induced (ENU) (1) 1 citation
Endonuclease-mediated (5) 1 citation
Targeted (3) 1 citation

General gene information

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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables L-iduronidase activity	IBA Inferred from Biological aspect of Ancestor more info
enables L-iduronidase activity	IDA Inferred from Direct Assay more info	PubMed
enables L-iduronidase activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables L-iduronidase activity	ISO Inferred from Sequence Orthology more info
enables L-iduronidase activity	ISS Inferred from Sequence or Structural Similarity more info
enables signaling receptor binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within adult locomotory behavior	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within adult walking behavior	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within bone development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in carbohydrate metabolic process	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within cartilage homeostasis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within cell morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within chemical homeostasis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within dermatan sulfate catabolic process	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within dermatan sulfate catabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in dermatan sulfate catabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in dermatan sulfate catabolic process	ISO Inferred from Sequence Orthology more info
involved_in dermatan sulfate catabolic process	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within extracellular matrix organization	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within glycosaminoglycan catabolic process	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within glycosaminoglycan catabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in glycosaminoglycan catabolic process	ISO Inferred from Sequence Orthology more info
involved_in heparan sulfate proteoglycan catabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within heparin catabolic process	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within heparin catabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within heparin catabolic process	ISO Inferred from Sequence Orthology more info	PubMed
acts_upstream_of_or_within limb morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within locomotory behavior	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within lysosome organization	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within memory	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within negative regulation of cartilage development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within negative regulation of secretion of lysosomal enzymes	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within negative regulation of secretion of lysosomal enzymes	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within positive regulation of bone resorption	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within positive regulation of collagen catabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within skeletal system morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within visual learning	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in extracellular space	IDA Inferred from Direct Assay more info	PubMed
is_active_in lysosomal lumen	IMP Inferred from Mutant Phenotype more info	PubMed
is_active_in lysosome	IMP Inferred from Mutant Phenotype more info	PubMed

General protein information

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Preferred Names: alpha-L-iduronidase

NP_032351.2

EC 3.2.1.76

NP_766585.1

EC 3.2.1.76

XP_006534860.1

EC 3.2.1.76

XP_036020714.1

EC 3.2.1.76

XP_036020715.1

EC 3.2.1.76

XP_036020716.1

EC 3.2.1.76

XP_036020717.1

EC 3.2.1.76

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_008325.4 → NP_032351.2 alpha-L-iduronidase isoform 1 precursor

See identical proteins and their annotated locations for NP_032351.2

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).

Source sequence(s)

AC161813, AK031414, AK045330, AK155627

Consensus CDS

CCDS19516.2

UniProtKB/TrEMBL

Q3TDU4, Q8BMG0

Related

ENSMUSP00000071577.7, ENSMUST00000071650.13

Conserved Domains (1) summary

pfam01229
Location:26 → 542

Glyco_hydro_39; Glycosyl hydrolases family 39
NM_172997.1 → NP_766585.1 alpha-L-iduronidase isoform 2 precursor

See identical proteins and their annotated locations for NP_766585.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 5' coding region, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.

Source sequence(s)

AC161813, AK031414, AK045330, AK155627

Consensus CDS

CCDS71635.1

UniProtKB/TrEMBL

D3Z6V9, Q3TDU4, Q8BLF6

Related

ENSMUSP00000113190.2, ENSMUST00000119212.8

Conserved Domains (1) summary

cl23725
Location:26 → 495

Glyco_hydro_1; Glycosyl hydrolase family 1

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

NC_000071.7 Reference GRCm39 C57BL/6J

Range

108808197..108833312

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_036164824.1 → XP_036020717.1 alpha-L-iduronidase isoform X3

Conserved Domains (1) summary

cl23725
Location:4 → 267

Glyco_hydro; Glycosyl hydrolases
XM_036164821.1 → XP_036020714.1 alpha-L-iduronidase isoform X1

UniProtKB/Swiss-Prot

E9QM17, P48441

Conserved Domains (1) summary

cl23725
Location:1 → 411

Glyco_hydro; Glycosyl hydrolases
XM_036164822.1 → XP_036020715.1 alpha-L-iduronidase isoform X2

Conserved Domains (1) summary

cl23725
Location:4 → 311

Glyco_hydro; Glycosyl hydrolases
XM_006534797.5 → XP_006534860.1 alpha-L-iduronidase isoform X1

UniProtKB/Swiss-Prot

E9QM17, P48441

Conserved Domains (1) summary

cl23725
Location:1 → 411

Glyco_hydro; Glycosyl hydrolases
XM_036164823.1 → XP_036020716.1 alpha-L-iduronidase isoform X2

Conserved Domains (1) summary

cl23725
Location:4 → 311

Glyco_hydro; Glycosyl hydrolases