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Aliases & Descriptions for IDUA
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc
, and/or 7Ensembl,
8miRBase) About This Section
|
| Aliases |
|---|
| EC 3.2.1.76 3 | | IDA 2, 5 | | MPS1 1, 2 | | alpha-L-iduronidase 2 |
| | | Descriptions |
|---|
| iduronidase, alpha-L- 2 |
|
| | Search outside databases for aliases for IDUA genePrevious GC identifer: GC04P001023 |
Summaries for IDUA(According to Entrez Gene,
Wikipedia's
Gene Wiki,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
| EntrezGene summary for IDUA: 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]
|
Genomic Location for IDUA
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to
UCSC and
Ensembl,
Transcription factor binding sites according to
SABiosciences) About This Section
| Genomic View: UCSC Golden Path with GeneCards custom track
Transcription factor binding sites upstream to the IDUA gene 
Entrez Gene cytogenetic band: 4p16.3 Ensembl cytogenetic band: 4p16.3 HGNC cytogenetic band: 4p16.3IDUA Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different)
 GeneLoc gene densities for chromosome 4 GeneLoc Exon Structure GeneLoc location for GC04P000970:
(about GC identifiers)
Start:
|
970,785 bp from pter |
End:
|
988,317 bp from pter |
Size:
|
17,533 bases |
Orientation:
|
plus strand |
RefSeq DNA sequence:- NC_000004.10 NT_037622.5
| Proteins for IDUA
(According to
1UniProtKB,
and/or Ensembl,
Phosphorylation sites according to 2Phosphosite,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from Invitrogen,
Millipore,
Sigma-Aldrich,
R&D Systems,
Enzo Life Sciences,
Abnova,
OriGene and/or,
Abcam,
Biochemical Assays by
Invitrogen,
Millipore,
R&D Systems,
Cell Signaling Technology, and/or
Enzo Life Sciences,
Ontologies according to Gene
Ontology Consortium 01 Apr 2009 and
Entrez Gene,
Antibodies by Invitrogen,
Millipore,
Sigma-Aldrich,
R&D Systems,
Cell Signaling Technology,
Abcam,
Abnova, and/or
Novus Biologicals)
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
PDB structures from and Proteopedia :1Y24 (3D)
 REFSEQ proteins: NP_000194.2
ENSEMBL proteins: ENSP00000247933
Human Recombinant Proteins Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 
1 Gene Ontology (GO) cellular component term (links to tree view): | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0005764 | lysosome |
IEA | -- | About this table
Antibodies for IDUA: Assays for IDUA: | Protein
Domains/ Families for IDUA(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
| - Graphical View of Domain Structure for InterPro Entry P35475
ProtoNet protein and cluster: P35475 1 Blocks protein family: IPB000514 Glycoside hydrolase
UniProtKB/Swiss-Prot: IDUA_HUMAN, P35475Similarity: Belongs to the glycosyl hydrolase 39 family | Gene Function for IDUA
(According to MGI Jun 06 2009, UniProtKB,
IUBMB,and/or Genatlas,
shRNA from
OriGene,
Sigma-Aldrich, RNAi from
Sigma-Aldrich,
RNAi Products,
Clones, and
Q-PCR Products
from Invitrogen,
Millipore,
OriGene, and/or
Abnova,
siRNAs from
Applied Biosystems,
SYBR primers from OriGene,
Cell-based Assays from Millipore,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene.)
About This Section
|               OriGene 29mer shRNA kit in GFP-retroviral vector: NM_000203
Applied Biosystems Silencer® siRNAs for IDUA
Sigma-Aldrich siRNA and siRNA Panels for IDUA  Sigma-Aldrich shRNA for IDUA  Explore Sigma-Aldrich super-pooled esiRNAs 
              OriGene GFP tagged cDNA clone in CMV expression vector: NM_000203                                  Myc/DDK tagged cDNA clone in CMV expression vector: NM_000203                                  untagged cDNA clone in CMV expression vector: NM_000203 
Primers: Browse
Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers               OriGene genome-wide validated SYBR primer pairs: NM_000203
UniProtKB/Swiss-Prot: IDUA_HUMAN, P35475Catalytic activity: Hydrolysis of unsulfated alpha-L-iduronosidic linkages in dermatan sulfateEnzyme Number (IUBMB): EC 3.2.1.76 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)15/19 MGI mutant phenotypes (inferred from 2 alleles ) (MGI details for Idua) (see all 19
):
2 Gene Ontology (GO) molecular function terms (links to tree view): About this table | Pathways & Interactions for IDUA
(Pathways according to Invitrogen
(maps by GeneGo),
Millipore,
Cell Signaling Technology,
Sigma-Aldrich,
KEGG
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Proteins Network according to
SABiosciences,
Interactions according to 1UniProtKB,
2MINT, and/or
3STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene.)
About This Section
| 1 Sigma-Aldrich "Your Favorite Gene" Pathway for IDUA (Your Favorite Gene powered by Ingenuity) 
1 Interacting protein for IDUA (P354752) via UniProtKB, MINT, and/or STRINGAbout this table
5/9 Gene Ontology (GO) biological process terms (links to tree view) (see all 9
): About this table
|
Drugs & Compounds for IDUA(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
Sigma-Aldrich, Tocris Bioscience, and/or
Novoseek and Drugs according to
Enzo Life Sciences and/or
PharmGKB)
About This Section
|
Browse Tocris compounds for IDUA 10/12 Novoseek chemical compound relationships for IDUA gene (see all 12
)
| Compound |
Score |
Articles |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| glycosaminoglycan |
77.86 |
18 |
15851016 (2), 11861306 (1), 7950365 (1), 1525210 (1) (see all 11) |
| heparan sulfate |
74.26 |
21 |
8680403 (1), 9425437 (1), 11861306 (1), 12517274 (1) (see all 17) |
| mannose 6-phosphate |
68.56 |
9 |
16439176 (2), 9425437 (1), 18838694 (1), 9068797 (1) (see all 7) |
| dermatan |
64.24 |
1 |
1917344 (1) |
| mucopolysaccharide |
58.88 |
3 |
9425437 (1), 1907534 (1) |
| iduronic acid |
54.40 |
1 |
16283671 (1) |
| mannose |
47.38 |
2 |
7950365 (1), 18613275 (1) |
| tetrasaccharide |
44.75 |
1 |
14718373 (1) |
| ganglioside |
10.04 |
2 |
2121405 (1), 16718701 (1) |
| sulfate |
0.00 |
1 |
14718373 (1) |
About this table
|
Transcripts for IDUA(GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 219 Homo sapiens; Jun 2 2009) or GenBank, RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
non coding RNAs according to
RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from Invitrogen,
Millipore, and/or
Abnova,
siRNAs from Applied Biosystems,
Sigma-Aldrich,
shRNA from
Sigma-Aldrich,
OriGene,
Tagged/untagged cDNA clones from
OriGene, Expression Assays from Applied Biosystems) About This Section
|               OriGene 29mer shRNA kit in GFP-retroviral vector: NM_000203
Sigma-Aldrich siRNA and siRNA Panels for IDUA  Sigma-Aldrich shRNA for IDUA  Explore Sigma-Aldrich super-pooled esiRNAs 
Applied Biosystems Silencer® siRNAs: NM_000203 REFSEQ mRNAs for IDUA gene: NM_000203.3
Applied Biosystems TaqMan ® Gene Expression Assays: NM_000203               OriGene GFP tagged cDNA clone in CMV expression vector: NM_000203                                  Myc/DDK tagged cDNA clone in CMV expression vector: NM_000203                                  untagged cDNA clone in CMV expression vector: NM_000203  Additional cDNA 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
):AK098805 AI703058 AI739461 AW341134 BQ015011 BE551022 AI703146 W25580 BE674945 CB528887 AI767745 AI861925 BE045581 NM_000203 BE670003 BM887869 AI093301 BE675894 BM929869 AK125223 N92855 CD671947 M74715 AW572912
highest scoring ESTs for IDUA:AA037258 AA114859 AA291558 AA291878 AA452571 AA452751 AA593967 AA902504 AA923385 AA970107 Unigene Cluster for IDUA: Iduronidase, alpha-L- Hs.89560 [show with all ESTs]Unigene Representative Sequence: NM_000203
GeneLoc Exon Structure
5/8 Alternative Splicing Database (ASD) splice patterns (SP) for IDUA (see all 8
)
| 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: | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   |
About this scheme
ECgene alternative splicing isoforms for IDUA
1 Ensembl transcript including schematic representation: ENST00000247933
|
Expression for IDUA
(Experimental results according to
1GeneNote
and GNF BioGPS,
probe sets-to-genes annotations according to
2GeneAnnot ,
3GeneTide ,
Sets of similar genes according to GeneDecks,
Electronic Northern calculations according to data from
UniGene (Build 219 Homo sapiens),
SAGE tags according to
CGAP,
plus additional links to
SOURCE, and/or
GNF
BioGPS, and/or
EXPOLDB, and/or
UniProtKB,
Expression Assays from
Applied Biosystems
)
About This Section
| IDUA expression in normal and diseased human tissues
Applied Biosystems TaqMan ® Gene Expression Assays for IDUA
1 / 2 / 3 5 probe-sets matching IDUA gene Data from
(Publications) and GNF BioGPS About these images About these images
CGAP SAGE TAG: CTGCCCTCCC
SOURCE GeneReport for Unigene cluster: Hs.89560
Expression variation in blood from EXPOLDB for IDUA UniProtKB/Swiss-Prot: IDUA_HUMAN, P35475Tissue specificity: Ubiquitous |
Orthologs for IDUA
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
and/or
5MGI Jun 06 2009,
with possible further links to
Flybase
and/or
WormBase,
Gene Trees according to Ensembl)
About This Section
|
Orthologs for IDUA gene from 5/6 species (see all 6
)
About this table Species with no ortholog for IDUA
ENSEMBL Gene Tree for IDUA | Paralogs for IDUA(Paralogs according to 1HomoloGene and 2Ensembl, Pseudogenes according to 3Pseudogene.org) About This Section
| -- |
SNPs/Variants for IDUA(According to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE, and
UniProtKB,
Linkage Disequilibrium by HapMap,
Genotyping Reagents from
Applied Biosystems)
About This Section
|
HapMap Linkage Disequilibrium images for IDUA (up to first 250kb)
|
Disorders & Mutations for IDUA
(in which this Gene is Involved, According to
OMIM, UniProtKB,
Novoseek, PharmGKB,
Genatlas, GeneTests,
Blood group antigen gene mutations by BGMUT,
HGMD, GAD,
HuGE Navigator,
BCGD,
and/or TGDB.)
About This Section
|
OMIM: 252800 disorders: 607014 607016 607015 UniProtKB/Swiss-Prot: IDUA_HUMAN, P35475
Defects in IDUA are the cause of mucopolysaccharidosis type 1H (MPS1H) [MIM:607014]; also known as Hurler syndrome. MPS1H is 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 Defects in IDUA are the cause of mucopolysaccharidosis type 1H/S (MPS1H/S) [MIM:607015]; also known as Hurler-Scheie syndrome. MPS1H/S is 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 Defects in IDUA are the cause of mucopolysaccharidosis type 1S (MPS1S) [MIM:607016]; also known as Scheie syndrome. MPS1S is 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 clouding10/26 Novoseek disease relationships for IDUA gene (see all 26
)
| Disease |
Score |
Articles |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| mucopolysaccharidosis type i |
99.10 |
132 |
12517274 (3), 14718373 (3), 1339393 (2), 10870845 (2) (see all 86) |
| hurler-scheie syndrome |
95.87 |
11 |
7550232 (2), 12517274 (1), 14559116 (1), 1832239 (1) (see all 8) |
| mucopolysaccharidosis |
87.55 |
13 |
10735634 (2), 9425437 (1), 11110421 (1), 17718826 (1) (see all 9) |
| lysosomal storage diseases |
82.87 |
15 |
17718826 (1), 18479957 (1), 1339393 (1), 9134434 (1) (see all 10) |
| enzyme deficiency |
68.01 |
4 |
1907053 (1), 1909400 (1), 17490413 (1), 17920576 (1) |
| mucopolysaccharidosis type vii |
51.43 |
2 |
9134434 (1), 8006122 (1) |
| deficiency diseases |
48.19 |
2 |
7809150 (1), 7550232 (1) |
| pompe disease |
39.48 |
2 |
16359666 (1) |
| cns diseases |
38.49 |
2 |
15639191 (1) |
| hepatomegaly |
38.01 |
1 |
16324679 (1) |
About this table
GeneTests: IDUA Mucopolysaccharidosis Type I Human Gene Mutation Database: IDUA Genetic Association Database: IDUA Human Genome Epidemiology Navigator: IDUA (1 document)
|
Medical News for IDUA(Possibly Related Articles in
Doctor's Guide)
About This Section
| |
Publications for IDUA (in
PubMed.
Associations of this gene to articles via
1Novoseek,
2HGNC,
3Entrez Gene,
4UniProtKB/Swiss-Prot,
5UniProtKB/TrEMBL,
6GAD, and/or
7PharmGKB)
About This Section
| 10/182 PubMed articles for IDUA gene (see all 182
):- Human alpha-L-iduronidase: cDNA isolation and expression. (PubMed id 1946389)1, 3, 4 Scott H.S.... Hopwood J.J. (1991)
- Identification and molecular characterization of alpha-L-iduronidase mutations present in mucopolysaccharidosis type I patients undergoing enzyme replacement therapy. (PubMed id 15300847)1, 3, 4 Yogalingam G.... Hopwood J.J. (2004)
- Mucopolysaccharidosis type I: characterization of novel mutations affecting alpha-L-iduronidase activity. (PubMed id 10466419)1, 3, 4 Lee-Chen G.J.... Chin Y.W. (1999)
- Molecular genetic defect underlying alpha-L-iduronidase pseudodeficiency. (PubMed id 8554071)1, 3, 4 Aronovich E.L.... Whitley C.B. (1996)
- PCR detection of two RFLPs in exon I of the alpha-L-iduronidase (IDUA) gene. (PubMed id 1362562)1, 3, 4 Scott H.S.... Morris C.P. (1992)
- 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, 3, 4 Teng Y.N.... Lee-Chen G.J. (2000)
- Huntington disease-linked locus D4S111 exposed as the alpha-L-iduronidase gene. (PubMed id 1832239)1, 2, 3 MacDonald M.E....Gusella J.F. (1991)
- Four novel mutations underlying mild or intermediate forms of alpha- L-iduronidase deficiency (MPS IS and MPS IH/S). (PubMed id 7550232)1, 3, 4 Tieu P.T.... Neufeld E.F. (1995)
- Molecular genetics of mucopolysaccharidosis type I: diagnostic, clinical, and biological implications. (PubMed id 8680403)1, 3, 4 Scott H.S.... Hopwood J.J. (1995)
- Structure and sequence of the human alpha-L-iduronidase gene. (PubMed id 1505961)1, 3, 4 Scott H.S.... Morris C.P. (1992)
|
Search for IDUA
(in PubMed,
OMIM, and NCBI Bookshelf) About This Section
|
|
Genome Databases showing IDUA
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
and/or
H-InvDB)
About This Section
|
| Other Databases showing IDUA
(According to HUGE)
About This Section
| -- |
Specialized Databases showing IDUA(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL, Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot) About This Section
|
| Name | Description |
| GeneReviews | http://www.genetests.org/query?gene=IDUA |
|
| | | About This Section
| --
| Services for IDUA(Reagents available from Applied Biosystems, Antibodies and assays by Cell
Signaling Technology, Abcam, Novus Biologicals, Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich, Enzo Life Sciences, and/or Tocris Bioscience) About This Section
| 
 Products for IDUA:

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Incremental update: 13 Oct 2009
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