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    Idua alpha-L-iduronidase [ Rattus norvegicus (Norway rat) ]

    Gene ID: 360904, updated on 13-Apr-2024

    Summary

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    Official Symbol
    Iduaprovided by RGD
    Official Full Name
    alpha-L-iduronidaseprovided by RGD
    Primary source
    RGD:1310943
    See related
    Ensembl:ENSRNOG00000000043 AllianceGenome:RGD:1310943
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Rattus norvegicus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
    Summary
    Enables L-iduronidase activity and signaling receptor binding activity. Involved in glycosaminoglycan catabolic process. Located in coated vesicle and lysosome. Biomarker of gastric ulcer. 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, Apr 2022]
    Expression
    Biased expression in Lung (RPKM 131.1), Liver (RPKM 130.2) and 9 other tissues See more
    Orthologs
    human mouse all
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    Genomic context

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    Location:
    14p22
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCr8 (GCF_036323735.1) 14 NC_086032.1 (1175994..1203913, complement)
    RS_2023_06 previous assembly mRatBN7.2 (GCF_015227675.2) 14 NC_051349.1 (1031588..1059494, complement)
    106 previous assembly Rnor_6.0 (GCF_000001895.5) 14 NC_005113.4 (2041828..2056762, complement)

    Chromosome 14 - NC_086032.1Genomic Context describing neighboring genes Neighboring gene transmembrane emp24 protein transport domain containing 11 Neighboring gene ring finger protein 212 Neighboring gene fibroblast growth factor receptor-like 1 Neighboring gene solute carrier family 26 member 1 Neighboring gene diacylglycerol kinase, theta Neighboring gene transmembrane protein 175 Neighboring gene cyclin G associated kinase Neighboring gene U6 spliceosomal RNA

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages
    • Description: 320 RNA samples isolated from 11 organs (adrenal gland, brain, heart, kidney, liver, lung, muscle, spleen, thymus, and testes or uterus) from both sexes of Fischer 344 rats across four developmental stages (2-, 6-, 21-, and 104-weeks-old)
    • BioProject: PRJNA238328
    • Publication: PMID 24510058
    • Analysis date: Mon Jun 6 17:44:12 2016

    Bibliography

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    Related articles in PubMed

    1. Cardiac pathology in mucopolysaccharidosis I mice: Losartan modifies ERK1/2 activation during cardiac remodeling. Gonzalez EA, et al. J Inherit Metab Dis, 2021 May. PMID 33145772
    2. α- L-iduronidase gene-based therapy using the phiC31 system to treat mucopolysaccharidose type I mice. Stilhano RS, et al. J Gene Med, 2015 Jan-Feb. PMID 25597593
    3. High-dose enzyme replacement therapy in murine Hurler syndrome. Ou L, et al. Mol Genet Metab, 2014 Feb. PMID 24100243, Free PMC Article
    4. Three novel α-L-iduronidase mutations in 10 unrelated Chinese mucopolysaccharidosis type I families. Sun L, et al. Genet Mol Biol, 2011 Apr. PMID 21734815, Free PMC Article
    5. Reversal of lysosomal storage in brain of adult MPS-I mice with intravenous Trojan horse-iduronidase fusion protein. Boado RJ, et al. Mol Pharm, 2011 Aug 1. PMID 21667973

    See all (35) citations in PubMed

    GeneRIFs: Gene References Into Functions

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by RGD

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

    General protein information

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    Preferred Names
    alpha-L-iduronidase
    Names
    Idual
    iduronidase, alpha-L-
    iduronidase, alpha-L-like
    NP_001165555.1
    XP_008768160.1
    XP_038948073.1
    XP_038948075.1
    XP_063129382.1
    XP_063129383.1
    XP_063129385.1

    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_001172084.1 → NP_001165555.1  alpha-L-iduronidase precursor

      Status: VALIDATED

      Source sequence(s)
      JAXUCZ010000014
      UniProtKB/TrEMBL
      A0A8I6G2G6, D3ZE16
      Related
      ENSRNOP00000000048.4, ENSRNOT00000000048.7
      Conserved Domains (1) summary
      pfam01229
      Location:22 → 542
      Glyco_hydro_39; Glycosyl hydrolases family 39

    RefSeqs of Annotated Genomes: GCF_036323735.1-RS_2024_02

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

    Reference GRCr8

    Genomic

    1. NC_086032.1 Reference GRCr8

      Range
      1175994..1203913 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_063273315.1 → XP_063129385.1  alpha-L-iduronidase isoform X4

    2. XM_039092145.2 → XP_038948073.1  alpha-L-iduronidase isoform X2

      UniProtKB/TrEMBL
      A0A8I6G2G6
      Conserved Domains (2) summary
      pfam01229
      Location:29 → 543
      Glyco_hydro_39; Glycosyl hydrolases family 39
      cl21522
      Location:564 → 637
      FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...

    3. XM_063273313.1 → XP_063129383.1  alpha-L-iduronidase isoform X3

      UniProtKB/TrEMBL
      D3ZE16

    4. XM_063273312.1 → XP_063129382.1  alpha-L-iduronidase isoform X1

    5. XM_008769938.4 → XP_008768160.1  alpha-L-iduronidase isoform X5

      UniProtKB/TrEMBL
      A0A8I6G2G6
      Conserved Domains (2) summary
      cl21522
      Location:449 → 542
      FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
      cl23725
      Location:6 → 448
      Glyco_hydro_1; Glycosyl hydrolase family 1

    6. XM_039092147.2 → XP_038948075.1  alpha-L-iduronidase isoform X6

      Conserved Domains (2) summary
      cl21522
      Location:372 → 445
      FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
      cl23725
      Location:1 → 351
      Glyco_hydro; Glycosyl hydrolases

    RNA

    1. XR_010057383.1 RNA Sequence

    2. XR_010057382.1 RNA Sequence

    3. XR_005492984.2 RNA Sequence

    Nucleotide Protein Strain
    Heading Accession and Version

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