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    Ids iduronate 2-sulfatase [ Mus musculus (house mouse) ]

    Gene ID: 15931, updated on 9-Dec-2024

    Summary

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    Official Symbol
    Idsprovided by MGI
    Official Full Name
    iduronate 2-sulfataseprovided by MGI
    Primary source
    MGI:MGI:96417
    See related
    Ensembl:ENSMUSG00000035847 AllianceGenome:MGI:96417
    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
    Summary
    Enables iduronate-2-sulfatase activity. Involved in dermatan sulfate catabolic process and heparan sulfate proteoglycan catabolic process. Located in lysosome. Is active in lysosomal lumen. Is expressed in nervous system and neural retina. Used to study mucopolysaccharidosis II. Human ortholog(s) of this gene implicated in mucopolysaccharidosis II. Orthologous to human IDS (iduronate 2-sulfatase). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Broad expression in cortex adult (RPKM 56.7), frontal lobe adult (RPKM 54.0) and 20 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Ids in Genome Data Viewer
    Location:
    X A7.2; X 36.01 cM
    Exon count:
    19
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) X NC_000086.8 (69386675..69429437, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) X NC_000086.7 (70343069..70385834, complement)

    Chromosome X - NC_000086.8Genomic Context describing neighboring genes Neighboring gene AF4/FMR2 family, member 2 Neighboring gene ribosomal protein S6 pseudogene Neighboring gene RIKEN cDNA 1700111N16 gene Neighboring gene RIKEN cDNA 1700020N15 gene Neighboring gene STARR-seq mESC enhancer starr_47309 Neighboring gene STARR-seq mESC enhancer starr_47310 Neighboring gene STARR-seq mESC enhancer starr_47311 Neighboring gene STARR-seq mESC enhancer starr_47312 Neighboring gene STARR-seq mESC enhancer starr_47313 Neighboring gene RIKEN cDNA 4930567H17 gene Neighboring gene STARR-seq mESC enhancer starr_47315 Neighboring gene endothelium and lymphocyte associated ASCH domain 1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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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    Related articles in PubMed

    1. The characterization of a murine model of mucopolysaccharidosis II (Hunter syndrome). Garcia AR, et al. J Inherit Metab Dis, 2007 Nov. PMID 17876721
    2. CNS penetration of intrathecal-lumbar idursulfase in the monkey, dog and mouse: implications for neurological outcomes of lysosomal storage disorder. Calias P, et al. PLoS One, 2012. PMID 22279584, Free PMC Article
    3. Enzyme replacement therapy (ERT) procedure for mucopolysaccharidosis type II (MPS II) by intraventricular administration (IVA) in murine MPS II. Higuchi T, et al. Mol Genet Metab, 2012 Sep. PMID 22704483
    4. Auditory characteristics and therapeutic effects of enzyme replacement in mouse model of the mucopolysaccharidosis (MPS) II. Hong SH, et al. Am J Med Genet A, 2012 Sep. PMID 22847837
    5. Cloning and characterization of the cDNA for the murine iduronate sulfatase gene. Daniele A, et al. Genomics, 1993 Jun. PMID 8325651

    See all (48) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Transferrin Receptor-Targeted Iduronate-2-sulfatase Penetrates the Blood-Retinal Barrier and Improves Retinopathy in Mucopolysaccharidosis II Mice.
      Title: Transferrin Receptor-Targeted Iduronate-2-sulfatase Penetrates the Blood-Retinal Barrier and Improves Retinopathy in Mucopolysaccharidosis II Mice.
    2. High-Throughput Liquid Chromatography-Tandem Mass Spectrometry Quantification of Glycosaminoglycans as Biomarkers of Mucopolysaccharidosis II.
      Title: High-Throughput Liquid Chromatography-Tandem Mass Spectrometry Quantification of Glycosaminoglycans as Biomarkers of Mucopolysaccharidosis II.
    3. We also show that mucopolysaccharidosis type II patient fibroblasts harboring different mutations spanning the IDS gene exhibit perturbed FGF signaling-related markers expression. Our work opens a new venue to discover possible druggable novel key targets in mucopolysaccharidosis type II
      Title: FGF signaling deregulation is associated with early developmental skeletal defects in animal models for mucopolysaccharidosis type II (MPSII).
    4. While the iduronate 2-sulfatase sp replacement results in increased enzyme secretion, the addition of the ApoB-BD allows efficient BBB transcytosis and restoration of sulphamidase activity in the brain of treated mice.
      Title: A highly secreted sulphamidase engineered to cross the blood-brain barrier corrects brain lesions of mice with mucopolysaccharidoses type IIIA.
    5. Ids crossing the blood-brain barrier corrects CNS defects in MPSII mice.
      Title: IDS crossing of the blood-brain barrier corrects CNS defects in MPSII mice.
    6. Iduronate-2-sulfatase (IDS) is localized in lysosomes in pancreatic islet cells and expression is regulated by glucose. IDS has a potential role in the normal pathway of lysosomal degradation of secretory peptides.
      Title: Identification of iduronate-2-sulfatase in mouse pancreatic islets.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

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

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables calcium ion binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables calcium ion binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables iduronate-2-sulfatase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables iduronate-2-sulfatase activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables iduronate-2-sulfatase activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables iduronate-2-sulfatase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables sulfuric ester hydrolase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in dermatan sulfate catabolic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in glycosaminoglycan catabolic process ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in glycosaminoglycan catabolic process ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in heparan sulfate proteoglycan catabolic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in lysosomal lumen IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in lysosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in lysosome IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    located_in lysosome ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    iduronate 2-sulfatase
    Names
    alpha-L-iduronate sulfate sulfatase
    iduronate sulfatase
    NP_001388855.1
    NP_001388856.1
    NP_001388858.1
    NP_001388859.1
    NP_001388860.1
    NP_001388861.1
    NP_001388862.1
    NP_001388863.1
    NP_001388864.1
    NP_001388865.1
    NP_001388866.1
    NP_034628.2
    XP_006527909.1
    XP_017173882.1
    XP_017173883.1
    XP_030107089.1
    XP_030107090.1

    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)

    1. NM_001401926.1 → NP_001388855.1  iduronate 2-sulfatase isoform 2 precursor

      Status: VALIDATED

      Source sequence(s)
      AL672026, BX294168
      UniProtKB/TrEMBL
      Q3V1R8

    2. NM_001401927.1 → NP_001388856.1  iduronate 2-sulfatase isoform 2 precursor

      Status: VALIDATED

      Source sequence(s)
      BX294168
      UniProtKB/TrEMBL
      Q3V1R8

    3. NM_001401929.1 → NP_001388858.1  iduronate 2-sulfatase isoform 3 precursor

      Status: VALIDATED

      Source sequence(s)
      BX294168
      UniProtKB/TrEMBL
      Q3V1R8

    4. NM_001401930.1 → NP_001388859.1  iduronate 2-sulfatase isoform 4 precursor

      Status: VALIDATED

      Source sequence(s)
      BX294168

    5. NM_001401931.1 → NP_001388860.1  iduronate 2-sulfatase isoform 5

      Status: VALIDATED

      Source sequence(s)
      AL672026, BX294168
      UniProtKB/TrEMBL
      Q684Q4

    6. NM_001401932.1 → NP_001388861.1  iduronate 2-sulfatase isoform 5

      Status: VALIDATED

      Source sequence(s)
      AL672026, BX294168
      UniProtKB/TrEMBL
      Q684Q4

    7. NM_001401933.1 → NP_001388862.1  iduronate 2-sulfatase isoform 5

      Status: VALIDATED

      Source sequence(s)
      AL672026, BX294168
      UniProtKB/TrEMBL
      Q684Q4

    8. NM_001401934.1 → NP_001388863.1  iduronate 2-sulfatase isoform 5

      Status: VALIDATED

      Source sequence(s)
      AL672026, BX294168
      UniProtKB/TrEMBL
      Q684Q4

    9. NM_001401935.1 → NP_001388864.1  iduronate 2-sulfatase isoform 5

      Status: VALIDATED

      Source sequence(s)
      AL672026, BX294168
      UniProtKB/TrEMBL
      Q684Q4

    10. NM_001401936.1 → NP_001388865.1  iduronate 2-sulfatase isoform 5

      Status: VALIDATED

      Source sequence(s)
      AL672026, BX294168
      UniProtKB/TrEMBL
      Q684Q4

    11. NM_001401937.1 → NP_001388866.1  iduronate 2-sulfatase isoform 5

      Status: VALIDATED

      Source sequence(s)
      AL672026, BX294168
      UniProtKB/TrEMBL
      Q684Q4

    12. NM_010498.4 → NP_034628.2  iduronate 2-sulfatase isoform 1 precursor

      See identical proteins and their annotated locations for NP_034628.2

      Status: VALIDATED

      Source sequence(s)
      BX294168
      Consensus CDS
      CCDS40996.1
      UniProtKB/Swiss-Prot
      Q08890, Q32KI7, Q3TM30
      UniProtKB/TrEMBL
      Q3V1R8
      Related
      ENSMUSP00000099046.3, ENSMUST00000101509.9
      Conserved Domains (2) summary
      COG3119
      Location:35 → 543
      AslA; Arylsulfatase A or related enzyme [Inorganic ion transport and metabolism]
      cd16030
      Location:40 → 543
      iduronate-2-sulfatase; iduronate-2-sulfatase

    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

    1. NC_000086.8 Reference GRCm39 C57BL/6J

      Range
      69386675..69429437 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017318394.2 → XP_017173883.1  iduronate 2-sulfatase isoform X2

      UniProtKB/TrEMBL
      Q684Q4
      Conserved Domains (1) summary
      cd16030
      Location:1 → 454
      iduronate-2-sulfatase

    2. XM_017318393.2 → XP_017173882.1  iduronate 2-sulfatase isoform X2

      UniProtKB/TrEMBL
      Q684Q4
      Conserved Domains (1) summary
      cd16030
      Location:1 → 454
      iduronate-2-sulfatase

    3. XM_030251230.1 → XP_030107090.1  iduronate 2-sulfatase isoform X2

      UniProtKB/TrEMBL
      Q684Q4
      Conserved Domains (1) summary
      cd16030
      Location:1 → 454
      iduronate-2-sulfatase

    4. XM_030251229.1 → XP_030107089.1  iduronate 2-sulfatase isoform X2

      UniProtKB/TrEMBL
      Q684Q4
      Conserved Domains (1) summary
      cd16030
      Location:1 → 454
      iduronate-2-sulfatase

    5. XM_006527846.5 → XP_006527909.1  iduronate 2-sulfatase isoform X3

      UniProtKB/TrEMBL
      Q684Q4
      Conserved Domains (1) summary
      cd16030
      Location:1 → 411
      iduronate-2-sulfatase

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001038990.1: Suppressed sequence

      Description
      NM_001038990.1: This RefSeq was permanently suppressed because it was determined to be an artifact in sequencing due to the presence of microsatellites.

    2. NM_001038991.1: Suppressed sequence

      Description
      NM_001038991.1: This RefSeq was permanently suppressed because it was determined to be an artifact in sequencing due to the presence of microsatellites.
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q08890.3 GenPept UniProtKB/Swiss-Prot:Q08890

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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