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    IDUA alpha-L-iduronidase [ Homo sapiens (human) ]

    Gene ID: 3425, updated on 8-Jul-2021

    Summary

    Official Symbol
    IDUAprovided by HGNC
    Official Full Name
    alpha-L-iduronidaseprovided by HGNC
    Primary source
    HGNC:HGNC:5391
    See related
    Ensembl:ENSG00000127415 MIM:252800
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    IDA; MPS1; MPSI
    Summary
    This gene encodes an enzyme that hydrolyzes the terminal alpha-L-iduronic acid residues of two glycosaminoglycans, dermatan sulfate and heparan sulfate. This hydrolysis is required for the lysosomal degradation of these glycosaminoglycans. Mutations in this gene that result in enzymatic deficiency lead to the autosomal recessive disease mucopolysaccharidosis type I (MPS I). [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in spleen (RPKM 4.2), stomach (RPKM 4.1) and 25 other tissues See more
    Orthologs
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    Genomic context

    See IDUA in Genome Data Viewer
    Location:
    4p16.3
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 4 NC_000004.12 (986997..1004564)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (980785..998352)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene transmembrane protein 175 Neighboring gene diacylglycerol kinase theta Neighboring gene solute carrier family 26 member 1 Neighboring gene fibroblast growth factor receptor like 1 Neighboring gene uncharacterized LOC105374343

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables L-iduronidase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables L-iduronidase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables L-iduronidase activity TAS
    Traceable Author Statement
    more info
     
    enables hydrolase activity, hydrolyzing O-glycosyl compounds IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables signaling receptor binding IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in coated vesicle IEA
    Inferred from Electronic Annotation
    more info
     
    located_in extracellular exosome HDA PubMed 
    located_in lysosomal lumen TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    alpha-L-iduronidase
    Names
    iduronidase alpha-L-
    mucopolysaccharidosis type I
    NP_000194.2
    NP_001350505.1
    XP_011511763.1
    XP_016863652.1

    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.

    Genomic

    1. NG_008103.1 RefSeqGene

      Range
      5048..22568
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_1277

    mRNA and Protein(s)

    1. NM_000203.5NP_000194.2  alpha-L-iduronidase isoform a precursor

      See identical proteins and their annotated locations for NP_000194.2

      Status: REVIEWED

      Source sequence(s)
      AC019103, M74715
      Consensus CDS
      CCDS3343.1
      UniProtKB/Swiss-Prot
      P35475
      Related
      ENSP00000425081.2, ENST00000514224.2
      Conserved Domains (2) summary
      cl21522
      Location:544636
      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:30543
      Glyco_hydro_1; Glycosyl hydrolase family 1
    2. NM_001363576.1NP_001350505.1  alpha-L-iduronidase isoform b

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (b) is shorter at the N-terminus compared to isoform a.
      Source sequence(s)
      AC019103, AK098805
      Consensus CDS
      CCDS87198.1
      Related
      ENST00000652070.1
      Conserved Domains (1) summary
      cl23725
      Location:1411
      Glyco_hydro_1; Glycosyl hydrolase family 1

    RNA

    1. NR_110313.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) contains an alternate splice site, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC019103, AK125223, BC029959, BC099922, DA488352
      Related
      ENST00000514698.5

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000004.12 Reference GRCh38.p13 Primary Assembly

      Range
      986997..1004564
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017008163.1XP_016863652.1  alpha-L-iduronidase isoform X3

    2. XM_011513461.2XP_011511763.1  alpha-L-iduronidase isoform X1

      Conserved Domains (2) summary
      cl21522
      Location:475567
      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:31474
      Glyco_hydro_1; Glycosyl hydrolase family 1

    RNA

    1. XR_924947.1 RNA Sequence

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