Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 
or upload a file of gene symbols


Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

IDUA Gene

protein-coding   GIFtS: 62
GCID: GC04P000970

Iduronidase, Alpha-L-

Microbiology & Infectious Diseases Congress
  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)
About This Section

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 identifer: GC04P001023


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 mucopolysaccharidosis, and mucopolysaccharidosis i, and among its related super-pathways are Metabolic pathways and Metabolism of carbohydrates. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000004.11  NT_037622.5  NC_018915.2  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for IDUA

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 GC04P000970:  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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: IDUA_HUMAN, P35475 (See protein sequence)
Recommended Name: Alpha-L-iduronidase precursor  
Size: 653 amino acids; 72670 Da
Subunit: Monomer (Probable)
Subcellular location: Lysosome
3 PDB 3D structures from and Proteopedia for IDUA:
1Y24 (3D)        4JXO (3D)        4JXP (3D)    

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

Explore proteomics data for IDUA at MOPED 

IDUA Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

IDUA Protein Expression

REFSEQ proteins: NP_000194.2  
ENSEMBL proteins: 
 ENSP00000247933   ENSP00000422952   ENSP00000424847   ENSP00000423685   ENSP00000424227  
 ENSP00000425081   ENSP00000396458  
Reactome Protein details: P35475
Human Recombinant Protein Products for IDUA: 
Browse Purified and Recombinant Proteins at EMD Millipore
R&D Systems Recombinant & Natural Proteins for IDUA (alpha-L-Iduronidase/IDUA)
Browse recombinant and purified proteins available from Enzo Life Sciences
Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
OriGene Protein Over-expression Lysate for IDUA
OriGene Custom MassSpec 
OriGene Custom Protein Services for IDUA
GenScript Custom Purified and Recombinant Proteins Services for IDUA
Browse Sino Biological Recombinant Proteins
Browse Sino Biological Cell Lysates 
Browse ProSpec Recombinant Proteins
Browse Proteins at Cloud-Clone Corp. 

Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

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

IDUA for ontologies           About GeneDecksing



IDUA Antibody Products: 
Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
R&D Systems Antibodies for IDUA (alpha-L-Iduronidase/IDUA)
Browse OriGene Antibodies
OriGene Custom Antibody Services for IDUA
GenScript Superior Antibodies for IDUA
Abcam antibodies for IDUA
Browse Antibodies at Cloud-Clone Corp. 
ThermoFisher Antibody for IDUA
LSBio Antibodies in human, mouse, rat for IDUA 

Assay Products for IDUA: 
Browse Kits and Assays available from EMD Millipore
OriGene Custom Assay Services for IDUA
Browse R&D Systems for biochemical assays
GenScript Custom Assay Services for IDUA
Browse Enzo Life Sciences for kits & assays
Browse ELISAs at Cloud-Clone Corp. 
Browse CLIAs at Cloud-Clone Corp.


(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section
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,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
About This Section

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 (GO ID links to tree view):    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:
     15/20 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Idua) (see all 20):
 adipose tissue  behavior/neurological  cardiovascular system  cellular  craniofacial 
 growth/size  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 - Custom generated mouse model solutions for IDUA 
   inGenious Targeting Laboratory - Custom generated inducible mouse model solutions 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
Products:
    
QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat IDUA
Search QIAGEN for miScript miRNA Assays for microRNAs that regulate IDUA
Browse SwitchGear 3'UTR luciferase reporter plasmids
Inhib. RNA
Products:
    
Browse for Gene Knock-down Tools from EMD Millipore
OriGene RNAi products in human, mouse, rat for IDUA
QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat IDUA

Gene Editing
Products:
DNA2.0 Custom Protein Engineering Service for IDUA
Sirion Biotech Customized adenovirus for overexpression of IDUA

Clone
Products:
     
Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
OriGene clones in human, mouse for IDUA (see all 7)
OriGene ORF clones in mouse, rat for IDUA
OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
GenScript: all cDNA clones in your preferred vector: IDUA (NM_000203)
Browse Sino Biological Human cDNA Clones
DNA2.0 Custom Codon Optimized Gene Synthesis Service for IDUA
Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat IDUA
Sirion Biotech Customized lentivirus for stable overexpression of IDUA 
                     Customized lentivirus expression plasmids for stable overexpression of IDUA 

Cell Line
Products:
     
GenScript Custom overexpressing Cell Line Services for IDUA
Search LifeMap BioReagents cell lines for IDUA
In Situ Assay
Products:
   

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for IDUA


(Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
About This Section

SuperPaths for IDUA About   (see all 8)                                                                                              See pathways by source

SuperPathSelected contained pathways About (see all per SuperPath)
1Metabolism
Metabolism0.40
Metabolic pathways0.40
2MPS IIIC - Sanfilippo syndrome C
MPS IIIC - Sanfilippo syndrome C0.48
Mucopolysaccharidoses0.48
MPS IV - Morquio syndrome A0.48
MPS IIID - Sanfilippo syndrome D0.48
MPS IV - Morquio syndrome B0.48
MPS I - Hurler syndrome0.48
MPS VI - Maroteaux-Lamy syndrome0.48
MPS IX - Natowicz syndrome0.48
3Heparan sulfate/heparin (HS-GAG) metabolism
Heparan sulfate/heparin (HS-GAG) metabolism0.56
HS-GAG degradation0.40
4A tetrasaccharide linker sequence is required for GAG synthesis
Chondroitin sulfate/dermatan sulfate metabolism0.54
5CS/DS degradation
CS/DS degradation0.44

Pathways by source                                                                                                                                                                 See SuperPaths
Show all pathways


5/20        Reactome Pathways for IDUA (see all 20)
    Chondroitin sulfate/dermatan sulfate metabolism
MPS VI - Maroteaux-Lamy syndrome
Metabolism
Disease
MPS II - Hunter syndrome


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


IDUA for pathways           About GeneDecksing

Interactions:

    Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for IDUA

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

5/25 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): 5/13 biological process terms (GO ID links to tree view) (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 HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

IDUA for compounds           About GeneDecksing

Browse Small Molecules at EMD Millipore
Browse drugs & compounds from Enzo Life Sciences

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--

10/25 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)

Search CenterWatch for drugs/clinical trials and news about IDUA

(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,
Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for IDUA gene: 
NM_000203.3  

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)

Congresses - knowledge worth sharing:  
European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

miRNA
Products:
     
QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat IDUA
Search QIAGEN for miScript miRNA Assays for microRNAs that regulate IDUA
Browse SwitchGear 3'UTR luciferase reporter plasmids
Inhib. RNA
Products:
     
Browse for Gene Knock-down Tools from EMD Millipore
OriGene RNAi products in human, mouse, rat for IDUA
QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat IDUA
Clone
Products:
     
OriGene clones in human, mouse for IDUA (see all 7)
OriGene ORF clones in mouse, rat for IDUA
OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
GenScript: all cDNA clones in your preferred vector: IDUA (NM_000203)
DNA2.0 Custom Codon Optimized Gene Synthesis Service for IDUA
Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat IDUA
Sirion Biotech Customized lentivirus for stable overexpression of IDUA 
                     Customized lentivirus expression plasmids for stable overexpression of IDUA 
Primer
Products:
    
OriGene qSTAR qPCR primer pairs in human, mouse for IDUA
SABiosciences RT2 qPCR Primer Assay in human, mouse, rat IDUA
  QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat IDUA
  QIAGEN 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 

24/186 AceView cDNA sequences (see all 186):

BE675894 AI332855 AI457535 BM887869 AI911115 AI216475 N92855 AI809662 
AW510743 AI093301 AW341134 AI332567 W25580 BE327278 AI739461 BM929869 
BE670003 BQ772031 CB049523 AI703058 BM503943 NM_000203 AI344216 CD671947 

GeneLoc Exon Structure

5/8 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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

IDUA expression in normal human tissues (normalized intensities)      IDUA embryonic expression: see
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 
 5/32 selected tissues (see all 32) fully expand
 
 Epithelium
         vagina ; squamous epithelial cells   
 
 Uterus
         uterus, post-menopause ; glandular cells   
 
 Testis (Reproductive System)    fully expand to see all 4 entries
         Leydig Cells Testis Interstitium
         seminal vesicle ; glandular cells   
 
 Brain (Nervous System)    fully expand to see all 4 entries
         Cerebral Cortex
 
 Lung (Respiratory System)    fully expand to see all 3 entries
         lung ; pneumocytes   

See IDUA Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for IDUA

SOURCE GeneReport for Unigene cluster: Hs.89560

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

    SABiosciences Custom PCR Arrays for IDUA
Primer
Products:
OriGene qSTAR qPCR primer pairs in human, mouse for IDUA
SABiosciences RT2 qPCR Primer Assay in human, mouse, rat IDUA
QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat IDUA
QIAGEN QuantiFast Probe-based Assays in human, mouse, rat IDUA
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)
About This Section

This gene was present in the common ancestor of animals.

Orthologs for IDUA gene from 5/12 species (see all 12)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Idua1 , 5 iduronidase, alpha-L-1, 5 79.93(n)1
79.1(a)1
  5 (53.24 cM)5
159321  NM_008325.31  NP_032351.21 
 1086603315 
chicken
(Gallus gallus)
Aves IDUA1 iduronidase, alpha-L- 60.77(n)
60.66(a)
  427294  NM_001031433.1  NP_001026604.1 
lizard
(Anolis carolinensis)
Reptilia IDUA6
iduronidase, alpha-L-
57(a)
1 ↔ 1
GL343201.1(882598-960694)
zebrafish
(Danio rerio)
Actinopterygii idua1 iduronidase, alpha-L- 62.4(n)
58.9(a)
  567720  XM_001923654.3  XP_001923689.3 
fruit fly
(Drosophila melanogaster)
Insecta CG62011 , 3 L-iduronidase3
CG62011
30(a)3
45.89(n)1
32.07(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)
About This Section
  --

(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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

10/604 SNPs in IDUA are shown (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) 10/23 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
SABiosciences Cancer Mutation 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, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section
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

  • 20/42 diseases for IDUA (see all 42):    About MalaCards
    mucopolysaccharidosis    mucopolysaccharidosis i    scheie syndrome    mucopolysaccharidosis ih
    craniofacial abnormalities    autosomal recessive disease    leukopenia    duodenogastric reflux
    metachromatic leukodystrophy    west syndrome    lysosomal storage disease    gaucher's disease
    cholecystitis    leukodystrophy    friedreich ataxia    huntington's disease
    rickets    hernia    morquio syndrome b    hematopoietic stem cell transplantation

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

    IDUA for disorders           About GeneDecksing

    10/26 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)
    About This Section

    PubMed articles for IDUA gene, integrated from 9 sources (see all 215):
    (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. (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. (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. (1999)
    4. Molecular genetic defect underlying alpha-L-iduronidase pseudodeficiency. (PubMed id 8554071)1, 2, 9 Aronovich E.L.... Whitley C.B. (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. (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. (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. (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. (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. (1995)
    10. Structure and sequence of the human alpha-L-iduronidase gene. (PubMed id 1505961)1, 2, 9 Scott H.S.... Morris C.P. (1992)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 3425 HGNC: 5391 AceView: IDUA Ensembl:ENSG00000127415 euGenes: HUgn3425
    ECgene: IDUA Kegg: 3425 H-InvDB: IDUA

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for IDUA Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/IDUA

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

     
     EMD Millipore Custom Antibody & Bulk Services
     EMD Millipore Preclinical / Clinical Development Services
     EMD Millipore Immunoassay Services
     EMD Millipore Target Screening & Profiling Services

      
     Antibodies for IDUA (alpha-L-Iduronidase/IDUA)   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Kinase Activity Assays/Reagents  
     Browse ELISpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Multiplex/Array Assay Kits/Reagents  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Protease Activity Assays and Reagents   Recombinant/Natural Proteins for IDUA (alpha-L-Iduronidase/IDUA)  
     Browse Stem Cell Products   Browse Tocris Biochemicals & Compounds  
     Browse cDNA Clones   Browse Proteome Profiler Antibody Arrays  
     Browse OriGene Antibodies   OriGene RNAi products in human, mouse, rat for IDUA  
     Browse OriGene qPCR primer pairs and template standards   OriGene Protein Over-expression Lysate for IDUA  
     OriGene Custom Mass Spec   OriGene clones in human, mouse for IDUA  
     OriGene qSTAR qPCR primer pairs in human, mouse for IDUA   Browse OriGene full length recombinant human proteins expressed in human HEK293 cells  
     OriGene ORF clones in mouse, rat for IDUA   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for IDUA   OriGene Custom Protein Services for IDUA  

     
     
     QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat IDUA
     QIAGEN SeqTarget long-range PCR primers for resequencing IDUA
     QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat IDUA
     QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat IDUA
     QIAGEN QuantiFast Probe-based Assays in human, mouse, rat IDUA
     QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat IDUA
     GenScript Custom Purified and Recombinant Proteins Services for IDUA GenScript cDNA clones with any tag delivered in your preferred vector for IDUA
     GenScript Custom Assay Services for IDUA GenScript Superior Antibodies for IDUA
     GenScript Custom overexpressing Cell Line Services for IDUA CloneReady with Over 120,000 Genes
     Gene Synthesis: Any Gene in Any Vector Vector-based siRNA and miRNA, Ready for Transfection
     Gene Mutant Library, Variants up to 10^11 Plasmid Preparation
     Custom Peptide Services
     Search for Antibodies & Assays

     Regulatory tfbs in IDUA promoter
     Search Chromatin IP Primers for IDUA
     RT2 qPCR Primer Assay in human, mouse, rat IDUA
     Search GNC Networks for IDUA
     SABiosciences Custom PCR Arrays for IDUA
     Search Tocris compounds for IDUA
     Browse Sino Biological Proteins and Antibodies
     Browse Sino Biological Cell Lysates
     Browse Sino Biological cDNA Clones
     4000+ Proteins
     Search Sino Biological for antibodies, proteins & pathways
     Protein Production Services
     Transfection Reagents
     Protein A/G/L resins
     Isotyping reagents
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies
     Novus Biologicals
     Novus Tissue Slides
     Antibodies for IDUA
     See all of Abcam's Antibodies, Kits and Proteins for IDUA
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins




     Browse Proteins at Cloud-Clone Corp.
     Browse Antibodies at Cloud-Clone Corp.
     Browse ELISAs at Cloud-Clone Corp.
     Browse CLIAs at Cloud-Clone Corp.
     Search LifeMap BioReagents cell lines for IDUA
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for IDUA
     Browse SwitchGear 3'UTR luciferase reporter plasmids for IDUA
     SwitchGear Promoter luciferase reporter plasmids for IDUA
     ThermoFisher Antibody for IDUA
     Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat IDUA
     inGenious Targeting Laboratory - Custom generated mouse model solutions for IDUA
     inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for IDUA
    Customized:
     lentivirus for stable overexpression of IDUA
     lentivirus expression plasmids for stable overexpression of IDUA
     adenovirus for overexpression of IDUA
     LSBio Antibodies in human, mouse, rat for IDUA
    Customized transgenic rodents for:
     Humanization
     Biomarker expression
     Off-target effect monitoring
     Translational medicine
     Tissue-specific gene expresssion
     Time-controlled gene expresssion
           
    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

    View Random Gene

    Category
    (GIFtS: 73)
    transforming growth factor, beta 1
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Hot genes      Disease genes      IDUA gene at Home site.
    hostname: 356980-web2.xennexinc.com index build: 106 solr: 1.4