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

    Gene ID: 3425, updated on 10-Dec-2024

    Summary

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    Official Symbol
    IDUAprovided by HGNC
    Official Full Name
    alpha-L-iduronidaseprovided by HGNC
    Primary source
    HGNC:HGNC:5391
    See related
    Ensembl:ENSG00000127415 MIM:252800; AllianceGenome:HGNC:5391
    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
    mouse all
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    Genomic context

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    See IDUA in Genome Data Viewer
    Location:
    4p16.3
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (986997..1008351)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (985128..1002611)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (980785..998352)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21140 Neighboring gene transmembrane protein 175 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:938924-939517 Neighboring gene ReSE screen-validated silencer GRCh37_chr4:957241-957400 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:961731-962444 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:962445-963158 Neighboring gene uncharacterized LOC124900645 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:963506-964024 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:965861-966501 Neighboring gene diacylglycerol kinase theta Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15114 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15115 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:973450-974030 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21141 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21142 Neighboring gene ReSE screen-validated silencer GRCh37_chr4:981121-981298 Neighboring gene solute carrier family 26 member 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:983059-983560 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:983561-984060 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:986529-987340 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:987341-988152 Neighboring gene uncharacterized LOC124900646 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:997000-997557 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15117 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15118 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:1003737-1004369 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15120 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15121 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:1007938-1008741 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:1008742-1009544 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:1011927-1012796 Neighboring gene fibroblast growth factor receptor like 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:1019533-1020034 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:1020035-1020534 Neighboring gene uncharacterized LOC105374343 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:1030079-1030899 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:1032665-1033598 Neighboring gene ReSE screen-validated silencer GRCh37_chr4:1035128-1035326 Neighboring gene ReSE screen-validated silencer GRCh37_chr4:1035707-1035888

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. Structural study on mutant alpha-L-iduronidases: insight into mucopolysaccharidosis type I. Sugawara K, et al. J Hum Genet, 2008. PMID 18340403
    2. Glycosidase active site mutations in human alpha-L-iduronidase. Brooks DA, et al. Glycobiology, 2001 Sep. PMID 11555618
    3. Mutational analysis of 85 mucopolysaccharidosis type I families: frequency of known mutations, identification of 17 novel mutations and in vitro expression of missense mutations. Beesley CE, et al. Hum Genet, 2001 Nov. PMID 11735025
    4. Detection of mucopolysaccharidosis type I heterozygotes based on the biochemical characteristics of leukocyte alpha-L-iduronidase. Mandelli J, et al. Arch Med Res, 2002 Jan-Feb. PMID 11825626
    5. Retrovirally mediated correction of bone marrow-derived mesenchymal stem cells from patients with mucopolysaccharidosis type I. Baxter MA, et al. Blood, 2002 Mar 1. PMID 11861306

    See all (96) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. A Novel IDUA Mutation Causing Ocular Disease in 2 Siblings.
      Title: A Novel IDUA Mutation Causing Ocular Disease in 2 Siblings.
    2. 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.
    3. Mucopolysaccharidoses type I gene therapy.
      Title: Mucopolysaccharidoses type I gene therapy.
    4. IDUA gene mutations in mucopolysaccharidosis type-1 patients from two Pakistani inbred families.
      Title: IDUA gene mutations in mucopolysaccharidosis type-1 patients from two Pakistani inbred families.
    5. Identification of a novel compound heterozygous IDUA mutation underlies Mucopolysaccharidoses type I in a Chinese pedigree.
      Title: Identification of a novel compound heterozygous IDUA mutation underlies Mucopolysaccharidoses type I in a Chinese pedigree.
    6. Mucopolysaccharidosis Type I Phenotypically Corrected with Edited Hematopoietic Stem Cells: Instead of altering the IDUA gene, a protein was inserted in a repurposable place in the genome known as a ""safe harbor locus"".
      Title: Mucopolysaccharidosis Type I Phenotypically Corrected with Edited Hematopoietic Stem Cells: Instead of altering the IDUA gene, a protein was inserted in a repurposable place in the genome known as a "safe harbor locus".
    7. Estimated birth prevalence of mucopolysaccharidoses in Brazil.
      Title: Estimated birth prevalence of mucopolysaccharidoses in Brazil.
    8. "Missing mutations" in MPS I: Identification of two novel copy number variations by an IDUA-specific in house MLPA assay.
      Title: "Missing mutations" in MPS I: Identification of two novel copy number variations by an IDUA-specific in house MLPA assay.
    9. IDUA gene mutation is associated with mucopolysaccharidosis type 1.
      Title: Mapping of IDUA gene variants in Pakistani patients with mucopolysaccharidosis type 1.
    10. Missense mutations in IUDA gene are associated with mucopolysaccharidosis type I.
      Title: Mutation analysis and clinical characterization of Iranian patients with mucopolysaccharidosis type I.
    Submit: New GeneRIF Correction See all GeneRIFs (44)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    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 GOA

    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 TAS
    Traceable Author Statement
    more info
    		  
    enables signaling receptor binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in dermatan sulfate catabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in disaccharide metabolic process TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in glycosaminoglycan catabolic process TAS
    Traceable Author Statement
    more info
    		  
    involved_in heparan sulfate proteoglycan catabolic process TAS
    Traceable Author Statement
    more info
    		  
    acts_upstream_of_or_within heparin catabolic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in extracellular exosome HDA PubMed 
    located_in lysosomal lumen TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    alpha-L-iduronidase
    Names
    iduronidase alpha-L-
    mucopolysaccharidosis type I
    NP_000194.2
    NP_001350505.1
    XP_011511763.1
    XP_047271604.1
    XP_047271605.1
    XP_047271606.1
    XP_047271607.1
    XP_047271608.1
    XP_054205907.1
    XP_054205908.1
    XP_054205909.1
    XP_054205910.1
    XP_054205911.1
    XP_054205912.1
    XP_054205913.1

    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_000203.5 → NP_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
      B3KWK6, P35475
      UniProtKB/TrEMBL
      A8K701
      Related
      ENSP00000425081.2, ENST00000514224.2
      Conserved Domains (2) summary
      cl21522
      Location:544 → 636
      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:30 → 543
      Glyco_hydro_1; Glycosyl hydrolase family 1

    2. NM_001363576.1 → NP_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
      Related
      ENST00000652070.1
      Conserved Domains (1) summary
      cl23725
      Location:1 → 411
      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: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000004.12 Reference GRCh38.p14 Primary Assembly

      Range
      986997..1008351
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047415649.1 → XP_047271605.1  alpha-L-iduronidase isoform X1

      UniProtKB/Swiss-Prot
      B3KWK6, P35475
      UniProtKB/TrEMBL
      A8K701

    2. XM_047415648.1 → XP_047271604.1  alpha-L-iduronidase isoform X1

      UniProtKB/Swiss-Prot
      B3KWK6, P35475
      UniProtKB/TrEMBL
      A8K701

    3. XM_047415650.1 → XP_047271606.1  alpha-L-iduronidase isoform X2

      UniProtKB/TrEMBL
      Q56A80

    4. XM_047415651.1 → XP_047271607.1  alpha-L-iduronidase isoform X4

      UniProtKB/TrEMBL
      A8K701

    5. XM_011513461.3 → XP_011511763.1  alpha-L-iduronidase isoform X3

      UniProtKB/TrEMBL
      A8K701
      Conserved Domains (2) summary
      cl21522
      Location:475 → 567
      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:31 → 474
      Glyco_hydro_1; Glycosyl hydrolase family 1

    6. XM_047415652.1 → XP_047271608.1  alpha-L-iduronidase isoform X5

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060928.1 Alternate T2T-CHM13v2.0

      Range
      985128..1002611
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054349932.1 → XP_054205907.1  alpha-L-iduronidase isoform X6

      UniProtKB/TrEMBL
      A8K701

    2. XM_054349934.1 → XP_054205909.1  alpha-L-iduronidase isoform X2

      UniProtKB/TrEMBL
      Q56A80

    3. XM_054349938.1 → XP_054205913.1  alpha-L-iduronidase isoform X9

    4. XM_054349937.1 → XP_054205912.1  alpha-L-iduronidase isoform X8

    5. XM_054349935.1 → XP_054205910.1  alpha-L-iduronidase isoform X4

      UniProtKB/TrEMBL
      A8K701

    6. XM_054349936.1 → XP_054205911.1  alpha-L-iduronidase isoform X3

      UniProtKB/TrEMBL
      A8K701

    7. XM_054349933.1 → XP_054205908.1  alpha-L-iduronidase isoform X7

      UniProtKB/TrEMBL
      A8K701
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P35475.2 GenPept UniProtKB/Swiss-Prot:P35475

    Gene LinkOut

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