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IDUA Gene

protein-coding   GIFtS: 63
GCID: GC04P000980

Iduronidase, Alpha-L-

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Iduronidase, Alpha-L-1 2
IDA2 5
MPS12
alpha-L-iduronidase2
EC 3.2.1.763

External Ids:    HGNC: 53911   Entrez Gene: 34252   Ensembl: ENSG000001274157   OMIM: 2528005   UniProtKB: P354753   

Export aliases for IDUA gene to outside databases

Previous GC identifers: GC04P001023 GC04P000970


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for IDUA Gene:
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)

GeneCards Summary for IDUA Gene:
IDUA (iduronidase, alpha-L-) is a protein-coding gene. Diseases associated with IDUA include mucopolysaccharidoses, and mucopolysaccharidosis i. GO annotations related to this gene include L-iduronidase activity and receptor binding.




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000004.12  NT_006051.19  NC_018915.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the IDUA gene promoter:
         USF1   PPAR-gamma1   p53   USF-1   PPAR-gamma2   POU3F2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidIDUA promoter sequence
   Search Chromatin IP Primers for IDUA

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat IDUA


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 4p16.3   Ensembl cytogenetic band:  4p16.3   HGNC cytogenetic band: 4p16.3

IDUA Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
IDUA gene location

GeneLoc information about chromosome 4         GeneLoc Exon Structure

GeneLoc location for GC04P000980:  view genomic region     (about GC identifiers)

Start:
980,785 bp from pter      End:
998,317 bp from pter
Size:
17,533 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: IDUA_HUMAN, P35475 (See protein sequence)
Recommended Name: Alpha-L-iduronidase precursor  
Size: 653 amino acids; 72670 Da
Subunit: Monomer
Selected PDB 3D structures from and Proteopedia for IDUA (see all 8):
1Y24 (3D)        3W81 (3D)        3W82 (3D)        4KGJ (3D)        4KGL (3D)        4KH2 (3D)    

Explore the universe of human proteins at neXtProt for IDUA: NX_P35475

Explore proteomics data for IDUA at MOPED

Post-translational modifications: 

  • N-glycosylation at Asn-372 contributes to substrate binding and is required for full enzymatic activity1
  • Glycosylation2 at Asn110, Asn190, Asn336, Asn372, Asn415, Asn451

  • See IDUA Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_000194.2  
    ENSEMBL proteins: 
     ENSP00000247933   ENSP00000422952   ENSP00000424847   ENSP00000423685   ENSP00000424227  
     ENSP00000425081   ENSP00000396458  
    Reactome Protein details: P35475

    IDUA Human Recombinant Protein Products:

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    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp.

    IDUA Antibody Products:

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    Browse CLIAs at Cloud-Clone Corp.


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    3 InterPro protein domains:
     IPR000514 Glyco_hydro_39
     IPR017853 Glycoside_hydrolase_SF
     IPR013781 Glyco_hydro_catalytic_dom

    Graphical View of Domain Structure for InterPro Entry P35475

    ProtoNet protein and cluster: P35475

    1 Blocks protein domain: IPB000514 Glycoside hydrolase

    UniProtKB/Swiss-Prot: IDUA_HUMAN, P35475
    Similarity: Belongs to the glycosyl hydrolase 39 family


    IDUA for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: IDUA_HUMAN, P35475
    Catalytic activity: Hydrolysis of unsulfated alpha-L-iduronosidic linkages in dermatan sulfate

         Genatlas biochemistry entry for IDUA:
    iduronidase,alpha-L,same as D4S111,lysosomal,hydrolyzing dermatan sulfate,heparan sulfate,catalyzing the second
    step of degradation of glucosaminoglycans (mucopolysaccharides)

         Enzyme Number (IUBMB): EC 3.2.1.761

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003940L-iduronidase activity IDA--
    GO:0004553hydrolase activity, hydrolyzing O-glycosyl compounds ----
    GO:0005102receptor binding IEA--
    GO:0005515protein binding ----
         
    IDUA for ontologies           About GeneDecksing


    Phenotypes:
         Selected MGI mutant phenotypes (inferred from 3 alleles(MGI details for Idua) (see all 20):
     adipose tissue  behavior/neurological  cardiovascular system  cellular  craniofacial 
     growth/size/body  hearing/vestibular/ear  hematopoietic system  homeostasis/metabolism  immune system 
     integument  limbs/digits/tail  liver/biliary system  mortality/aging  muscle 

    IDUA for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for IDUA: Iduatm1Clk Iduatm1Efn

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for IDUA
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for IDUA

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for IDUA
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for IDUA

    miRNA
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    miRTarBase miRNAs that target IDUA:
    hsa-mir-335-5p (MIRT016737)

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    Browse Sino Biological Human cDNA Clones
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    Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat IDUA

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for IDUA


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    IDUA_HUMAN, P35475: Lysosome
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    lysosome5
    vacuole5
    endoplasmic reticulum1
    extracellular1
    golgi apparatus1

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005764lysosome ----
    GO:0030135coated vesicle IEA--
    GO:0043202lysosomal lumen TAS--

    IDUA for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for IDUA About   (see all 7)  
    See pathways by source

    SuperPathSelected contained pathways About (see all per SuperPath)
    1Metabolism
    Metabolism0.38
    Metabolic pathways0.38
    2MPS VI - Maroteaux-Lamy syndrome
    MPS VI - Maroteaux-Lamy syndrome0.45
    MPS IIIB - Sanfilippo syndrome B0.45
    MPS IIIC - Sanfilippo syndrome C0.45
    MPS II - Hunter syndrome0.45
    MPS IV - Morquio syndrome A0.45
    Glycosaminoglycan metabolism0.45
    Mucopolysaccharidoses0.45
    MPS IV - Morquio syndrome B0.45
    3Chondroitin sulfate/dermatan sulfate metabolism
    Chondroitin sulfate/dermatan sulfate metabolism0.51
    CS/DS degradation0.00
    4Heparan sulfate/heparin (HS-GAG) metabolism
    Heparan sulfate/heparin (HS-GAG) metabolism0.57
    HS-GAG degradation0.39
    5Lysosome
    Lysosome

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    2 Reactome Pathways for IDUA
        HS-GAG degradation
    CS/DS degradation


    3 Kegg Pathways  (Kegg details for IDUA):
        Glycosaminoglycan degradation
    Metabolic pathways
    Lysosome


    IDUA for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for IDUA
    Interactions:

        Search GeneGlobe Interaction Network for IDUA

    STRING Interaction Network Preview (showing 5 interactants - click image to see 24)

    Selected Interacting proteins for IDUA (P354752, 3 ENSP000002479334) via UniProtKB, MINT, STRING, and/or I2D (see all 25)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MPP3Q133682, 3MINT-64783 I2D: score=4 
    ARSBENSP000002649144STRING: ENSP00000264914
    GPC3ENSP000003598544STRING: ENSP00000359854
    GPC4ENSP000003598644STRING: ENSP00000359864
    HEXAENSP000002680974STRING: ENSP00000268097
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 13):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000902cell morphogenesis IEA--
    GO:0005975carbohydrate metabolic process TAS--
    GO:0005984disaccharide metabolic process TAS2470345
    GO:0006027glycosaminoglycan catabolic process TAS--
    GO:0007040lysosome organization IEA--

    IDUA for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for IDUA

    3 HMDB Compounds for IDUA    About this table
    CompoundSynonyms CAS #PubMed Ids
    DermatanChondroitin sulfate B (see all 13)24967-94-0--
    Iduronic acidL-Iduronate (see all 3)3402-98-0--
    WaterDihydrogen oxide (see all 2)7732-18-5--

    Selected Novoseek inferred chemical compound relationships for IDUA gene (see all 25)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    dermatan sulfate 83.9 28 8680403 (1), 9425437 (1), 11861306 (1), 12517274 (1) (see all 21)
    glycosaminoglycan 78.2 22 15851016 (2), 19384290 (2), 11861306 (1), 7950365 (1) (see all 12)
    idarubicin 77.4 83 9147610 (8), 12028023 (6), 9256828 (5), 8057680 (5) (see all 15)
    heparan sulfate 74.4 26 8680403 (1), 9425437 (1), 11861306 (1), 12517274 (1) (see all 19)
    dermatan 69.2 4 19839758 (1), 1917344 (1)
    mannose 6-phosphate 67.4 9 16439176 (2), 9425437 (1), 18838694 (1), 9068797 (1) (see all 7)
    mucopolysaccharide 57.4 3 9425437 (1), 1907534 (1)
    iduronic acid 52.9 1 16283671 (1)
    mannose 45.5 2 7950365 (1), 18613275 (1)
    tetrasaccharide 43.2 1 14718373 (1)



    IDUA for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for IDUA gene: 
    NM_000203.4  

    Unigene Cluster for IDUA:

    Iduronidase, alpha-L-
    Hs.89560  [show with all ESTs]
    Unigene Representative Sequence: NM_000203
    13 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000247933(uc003gby.3 uc003gbz.3) ENST00000502910 ENST00000514698
    ENST00000508168 ENST00000506561 ENST00000504568 ENST00000509744 ENST00000514192
    ENST00000509948 ENST00000514224 ENST00000502829 ENST00000514417 ENST00000453894(uc003gca.3)

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      QuantiFast Probe-based Assays in human, mouse, rat IDUA

    Additional mRNA sequence: 

    AK098805.1 AK291816.1 BC029959.1 BC099922.1 M74715.1 

    13 DOTS entries:

    DT.100748479  DT.95211433  DT.100748478  DT.101982098  DT.312397  DT.97841748  DT.91740837  DT.95308638 
    DT.121268303  DT.121268400  DT.97816385  DT.99963606  DT.97833470 

    Selected AceView cDNA sequences (see all 186):

    CD671947 CB528887 AI739461 NM_000203 R69402 AK125223 BM887869 W25580 
    AI332567 AI457535 AI911115 AI767745 BQ015011 BE675894 AW341134 AI809662 
    BM503943 BQ772031 AI703146 BM929869 BE670003 BE045581 CB049523 BE327278 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for IDUA (see all 8)    About this scheme

    ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b · 6c ^ 7a · 7b · 7c ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17
    SP1:                          -     -                 -     -     -                                                                           
    SP2:                    -     -     -                 -     -     -                                                                           
    SP3:                                -                 -     -     -                                                                           
    SP4:                                                  -     -     -                                                                           
    SP5:                                                                                                                                          


    ECgene alternative splicing isoforms for IDUA

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    IDUA expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CTGCCCTCCC
    IDUA Expression
    About this image


    IDUA expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 8) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Ovary (Reproductive System)    fully expand to see all 2 entries
             Ovarian Mesenchymal Stroma Cells Ovary Interstitium
             Oviduct
     
     Dermis (Integumentary System)    fully expand to see all 2 entries
             Zigzag Dermal Papilla Cells Dermal Papilla
     
     Bone (Muscoskeletal System)
             Bone Marrow
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
    IDUA Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    IDUA Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.89560

    UniProtKB/Swiss-Prot: IDUA_HUMAN, P35475
    Tissue specificity: Ubiquitous

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for IDUA

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for IDUA gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Idua1 , 5 iduronidase, alpha-L-1, 5 80.32(n)1
    80.1(a)1
      5 (53.24 cM)5
    159321  NM_008325.31  NP_032351.21 
     1086603315 
    chicken
    (Gallus gallus)
    Aves IDUA1 iduronidase, alpha-L- 60.64(n)
    60.69(a)
      427294  NM_001031433.1  NP_001026604.1 
    lizard
    (Anolis carolinensis)
    Reptilia IDUA6
    iduronidase, alpha-L-
    56(a)
    1 ↔ 1
    GL343201.1(882598-960694)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia idua1 iduronidase, alpha-L- 56.02(n)
    55.79(a)
      100488103  XM_002935456.2  XP_002935502.2 
    zebrafish
    (Danio rerio)
    Actinopterygii idua1 iduronidase, alpha-L- 62.4(n)
    58.9(a)
      567720  XM_001923654.4  XP_001923689.3 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG62011 , 3 L-iduronidase3
    CG62011
    30(a)3
    45.34(n)1
    32.24(a)1
      32D43
    345441  NM_135645.11  NP_609489.11 


    ENSEMBL Gene Tree for IDUA (if available)
    TreeFam Gene Tree for IDUA (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for IDUA (see all 604)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 4 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0033754
    Mucopolysaccharidosis 1S (MPS1S)4--see VAR_0033752 R P mis40--------
    VAR_0209834
    Mucopolysaccharidosis 1S (MPS1S)4--see VAR_0209832 N I mis40--------
    VAR_0033544
    Mucopolysaccharidosis 1S (MPS1S)4--see VAR_0033542 R Q mis40--------
    VAR_0662214
    Mucopolysaccharidosis 1H/S (MPS1H/S)4--see VAR_0662212 G R mis40--------
    VAR_0033744
    Mucopolysaccharidosis 1S (MPS1S)4--see VAR_0033742 L P mis40--------
    VAR_0662174
    Mucopolysaccharidosis 1H (MPS1H)4--see VAR_0662172 T P mis40--------
    VAR_0209804
    Mucopolysaccharidosis 1H/S (MPS1H/S)4--see VAR_0209802 L Q mis40--------
    VAR_0209784
    Mucopolysaccharidosis 1H (MPS1H)4--see VAR_0209782 E K mis40--------
    VAR_0209794
    Mucopolysaccharidosis 1H (MPS1H)4--see VAR_0209792 G D mis40--------
    VAR_0033684
    Mucopolysaccharidosis 1H (MPS1H)4--see VAR_0033682 T R mis40--------

    HapMap Linkage Disequilibrium report for IDUA (980785 - 998317 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for IDUA (see all 23):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2726743CNV Deletion23290073
    esv2726742CNV Deletion23290073
    esv2726744CNV Deletion23290073
    esv1085367CNV Deletion17803354
    dgv5397n71CNV Loss21882294
    dgv5396n71CNV Loss21882294
    nsv469998CNV Loss18288195
    dgv5390n71CNV Loss21882294
    nsv878292CNV Loss21882294
    nsv878287CNV Loss21882294

    Human Gene Mutation Database (HGMD): IDUA
    Locus Specific Mutation Databases (LSDB): IDUA

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing IDUA
    DNA2.0 Custom Variant and Variant Library Synthesis for IDUA

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 252800   
    OMIM disorders: 607014  607016  607015  
    UniProtKB/Swiss-Prot: IDUA_HUMAN, P35475
  • Mucopolysaccharidosis 1H (MPS1H) [MIM:607014]: A severe form of mucopolysaccharidosis type 1, a rare
    lysosomal storage disease characterized by progressive physical deterioration with urinary excretion of dermatan
    sulfate and heparan sulfate. Patients with MPS1H usually present, within the first year of life, a combination of
    hepatosplenomegaly, skeletal deformities, corneal clouding and severe mental retardation. Obstructive airways
    disease, respiratory infection and cardiac complications usually result in death before 10 years of age. Note=The
    disease is caused by mutations affecting the gene represented in this entry
  • Mucopolysaccharidosis 1H/S (MPS1H/S) [MIM:607015]: A form of mucopolysaccharidosis type 1, a rare
    lysosomal storage disease characterized by progressive physical deterioration with urinary excretion of dermatan
    sulfate and heparan sulfate. MPS1H/S represents an intermediate phenotype of the MPS1 clinical spectrum. It is
    characterized by relatively little neurological involvement, but most of the somatic symptoms described for
    severe MPS1 develop in the early to mid-teens, causing considerable loss of mobility. Note=The disease is caused
    by mutations affecting the gene represented in this entry
  • Mucopolysaccharidosis 1S (MPS1S) [MIM:607016]: A mild form of mucopolysaccharidosis type 1, a rare
    lysosomal storage disease characterized by progressive physical deterioration with urinary excretion of dermatan
    sulfate and heparan sulfate. Patients with MPS1S may have little or no neurological involvement, normal stature
    and life span, but present development of joints stiffness, mild hepatosplenomegaly, aortic valve disease and
    corneal clouding. Note=The disease is caused by mutations affecting the gene represented in this entry

  • Selected diseases for IDUA (see all 45):    
    About MalaCards
    mucopolysaccharidoses    mucopolysaccharidosis i    mucopolysaccharidosis ih    mongolian spot
    mucopolysaccharidosis    autosomal recessive disease    leukopenia    duodenogastric reflux
    metachromatic leukodystrophy    west syndrome    lysosomal storage disease    gaucher's disease
    cholecystitis    leukodystrophy    hematopoietic stem cell transplantation    friedreich ataxia
    huntington's disease    rickets    neurologic diseases    morquio syndrome b

    2 diseases from the University of Copenhagen DISEASES database for IDUA:
    Mucopolysaccharidosis     Mongolian spot

    IDUA for disorders           About GeneDecksing

    Selected Novoseek inferred disease relationships for IDUA gene (see all 26)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    mucopolysaccharidosis type i 99.1 149 12517274 (3), 14718373 (3), 1339393 (2), 10870845 (2) (see all 97)
    hurler-scheie syndrome 95.7 11 7550232 (2), 12517274 (1), 14559116 (1), 1832239 (1) (see all 8)
    mucopolysaccharidosis 88.7 13 10735634 (2), 9425437 (1), 11110421 (1), 17718826 (1) (see all 9)
    lysosomal storage diseases 82.4 18 17718826 (1), 18479957 (1), 1339393 (1), 9134434 (1) (see all 11)
    enzyme deficiency 66.9 4 1907053 (1), 1909400 (1), 17490413 (1), 17920576 (1)
    mucopolysaccharidosis type vii 50 2 9134434 (1), 8006122 (1)
    deficiency diseases 46.9 2 7809150 (1), 7550232 (1)
    hepatomegaly 45.6 1 16324679 (1)
    pompe disease 36.8 2 16359666 (1)
    metabolic disorder 36.2 1 11952079 (1)

    GeneTests: IDUA
    GeneReviews: IDUA
    Genetic Association Database (GAD): IDUA
    Human Genome Epidemiology (HuGE) Navigator: IDUA (1 document)

    Export disorders for IDUA gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for IDUA gene, integrated from 10 sources (see all 219):
    (articles sorted by number of sources associating them with IDUA)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Human alpha-L-iduronidase: cDNA isolation and expression. (PubMed id 1946389)1, 2, 9 Scott H.S.... Hopwood J.J. (Proc. Natl. Acad. Sci. U.S.A. 1991)
    2. Identification and molecular characterization of alpha-L-iduronidase mutations present in mucopolysaccharidosis type I patients undergoing enzyme replacement therapy. (PubMed id 15300847)1, 2, 9 Yogalingam G.... Hopwood J.J. (Hum. Mutat. 2004)
    3. Mucopolysaccharidosis type I: characterization of novel mutations affecting alpha-L-iduronidase activity. (PubMed id 10466419)1, 2, 9 Lee-Chen G.J.... Chin Y.W. (Clin. Genet. 1999)
    4. Molecular genetic defect underlying alpha-L-iduronidase pseudodeficiency. (PubMed id 8554071)1, 2, 9 Aronovich E.L.... Whitley C.B. (Am. J. Hum. Genet. 1996)
    5. PCR detection of two RFLPs in exon I of the alpha-L-iduronidase (IDUA) gene. (PubMed id 1362562)1, 2, 9 Scott H.S.... Morris C.P. (Hum. Genet. 1992)
    6. Identification and characterization of -3c-g acceptor splice site mutation in human alpha-L-iduronidase associated with mucopolysaccharidosis type IH/S. (PubMed id 10735634)1, 2, 9 Teng Y.N.... Lee-Chen G.J. (Clin. Genet. 2000)
    7. Huntington disease-linked locus D4S111 exposed as the alpha-L-iduronidase gene. (PubMed id 1832239)1, 3, 9 MacDonald M.E....Gusella J.F. (Somat. Cell Mol. Genet. 1991)
    8. Four novel mutations underlying mild or intermediate forms of alpha- L-iduronidase deficiency (MPS IS and MPS IH/S). (PubMed id 7550232)1, 2, 9 Tieu P.T.... Neufeld E.F. (Hum. Mutat. 1995)
    9. Molecular genetics of mucopolysaccharidosis type I: diagnostic, clinical, and biological implications. (PubMed id 8680403)1, 2, 9 Scott H.S.... Hopwood J.J. (Hum. Mutat. 1995)
    10. Structure and sequence of the human alpha-L-iduronidase gene. (PubMed id 1505961)1, 2, 9 Scott H.S.... Morris C.P. (Genomics 1992)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 3425 HGNC: 5391 AceView: IDUA Ensembl:ENSG00000127415 euGenes: HUgn3425
    ECgene: IDUA Kegg: 3425 H-InvDB: IDUA

    (According to HUGE)
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    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for IDUA Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=IDUA[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for IDUA gene:
    Search GeneIP for patents involving IDUA

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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