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| # | Reference Title | Reference Citation |
| 1. | Prolonged expression of a lysosomal enzyme in mouse liver after Sleeping Beauty transposon-mediated gene delivery: implications for non-viral gene therapy of mucopolysaccharidoses. | Aronovich EL, etal., J Gene Med. 2007 May;9(5):403-15. |
| 2. | Reversal of lysosomal storage in brain of adult MPS-I mice with intravenous Trojan horse-iduronidase fusion protein. | Boado RJ, etal., Mol Pharm. 2011 Aug 1;8(4):1342-50. doi: 10.1021/mp200136x. Epub 2011 Jun 17. |
| 3. | Cardiac findings after enzyme replacement therapy for mucopolysaccharidosis type I. | Braunlin EA, etal., Am J Cardiol. 2006 Aug 1;98(3):416-8. doi: 10.1016/j.amjcard.2006.02.047. Epub 2006 Jun 12. |
| 4. | Mucopolysaccharidosis type I: identification of 8 novel mutations and determination of the frequency of the two common alpha-L-iduronidase mutations (W402X and Q70X) among European patients. | Bunge S, etal., Hum Mol Genet. 1994 Jun;3(6):861-6. |
| 5. | Coated vesicles from rat liver and calf brain contain lysosomal enzymes bound to mannose 6-phosphate receptors. | Campbell CH and Rome LH, J Biol Chem. 1983 Nov 10;258(21):13347-52. |
| 6. | Murine mucopolysaccharidosis type I: targeted disruption of the murine alpha-L-iduronidase gene. | Clarke LA, etal., Hum Mol Genet. 1997 Apr;6(4):503-11. |
| 7. | Characterization of an immunodeficient mouse model of mucopolysaccharidosis type I suitable for preclinical testing of human stem cell and gene therapy. | Garcia-Rivera MF, etal., Brain Res Bull. 2007 Nov 1;74(6):429-38. Epub 2007 Aug 6. |
| 8. | Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. | Gaudet P, etal., Brief Bioinform. 2011 Sep;12(5):449-62. doi: 10.1093/bib/bbr042. Epub 2011 Aug 27. |
| 9. | Rat ISS GO annotations from GOA human gene data--August 2006 | GOA data from the GO Consortium |
| 10. | Cardiac pathology in mucopolysaccharidosis I mice: Losartan modifies ERK1/2 activation during cardiac remodeling. | Gonzalez EA, etal., J Inherit Metab Dis. 2021 May;44(3):740-750. doi: 10.1002/jimd.12327. Epub 2020 Nov 10. |
| 11. | Correction of metabolic, craniofacial, and neurologic abnormalities in MPS I mice treated at birth with adeno-associated virus vector transducing the human alpha-L-iduronidase gene. | Hartung SD, etal., Mol Ther. 2004 Jun;9(6):866-75. |
| 12. | Enzyme-replacement therapy in mucopolysaccharidosis I. | Kakkis ED, etal., N Engl J Med. 2001 Jan 18;344(3):182-8. doi: 10.1056/NEJM200101183440304. |
| 13. | Mucopolysaccharidosis I: Alpha-L-Iduronidase mutations in three Tunisian families. | Laradi S, etal., J Inherit Metab Dis. 2005;28(6):1019-26. |
| 14. | Rat ISS GO annotations from MGI mouse gene data--August 2006 | MGD data from the GO Consortium |
| 15. | OMIM Disease Annotation Pipeline | OMIM Disease Annotation Pipeline |
| 16. | Targeting of the CNS in MPS-IH using a nonviral transferrin-alpha-L-iduronidase fusion gene product. | Osborn MJ, etal., Mol Ther. 2008 Aug;16(8):1459-66. doi: 10.1038/mt.2008.119. Epub 2008 Jun 3. |
| 17. | High-dose enzyme replacement therapy in murine Hurler syndrome. | Ou L, etal., Mol Genet Metab. 2014 Feb;111(2):116-22. doi: 10.1016/j.ymgme.2013.09.008. Epub 2013 Sep 19. |
| 18. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
| 19. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
| 20. | A common mutation for mucopolysaccharidosis type I associated with a severe Hurler syndrome phenotype. | Scott HS, etal., Hum Mutat. 1992;1(2):103-8. |
| 21. | alpha-L-iduronidase mutations (Q70X and P533R) associate with a severe Hurler phenotype. | Scott HS, etal., Hum Mutat. 1992;1(4):333-9. |
| 22. | Rat brain contains high levels of mannose-6-phosphorylated glycoproteins including lysosomal enzymes and palmitoyl-protein thioesterase, an enzyme implicated in infantile neuronal lipofuscinosis. | Sleat DE, etal., J Biol Chem. 1996 Aug 9;271(32):19191-8. |
| 23. | Cord-blood transplants from unrelated donors in patients with Hurler's syndrome. | Staba SL, etal., N Engl J Med. 2004 May 6;350(19):1960-9. |
| 24. | a- L-iduronidase gene-based therapy using the phiC31 system to treat mucopolysaccharidose type I mice. | Stilhano RS, etal., J Gene Med. 2015 Jan-Feb;17(1-2):1-13. doi: 10.1002/jgm.2818. |
| 25. | Three novel a-L-iduronidase mutations in 10 unrelated Chinese mucopolysaccharidosis type I families. | Sun L, etal., Genet Mol Biol. 2011 Apr;34(2):195-200. Epub 2011 Apr 1. |
| 26. | Identification and characterization of 20 novel pathogenic variants in 60 unrelated Indian patients with mucopolysaccharidoses type I and type II. | Uttarilli A, etal., Clin Genet. 2016 Dec;90(6):496-508. doi: 10.1111/cge.12795. Epub 2016 May 26. |
| 27. | Characterization of an MPS I-H knock-in mouse that carries a nonsense mutation analogous to the human IDUA-W402X mutation. | Wang D, etal., Mol Genet Metab. 2010 Jan;99(1):62-71. doi: 10.1016/j.ymgme.2009.08.002. |
| 28. | [Changes in the activities of lysosomal enzyme (glycosidase) in experimental acute gastric mucosal lesion]. | Watanabe K, Nihon Geka Gakkai Zasshi. 1986 Apr;87(4):395-402. |
| 29. | Changes in the catalytic activities of proteoglycan-degrading lysosomal enzymes in parenchymal and non-parenchymal liver cells and in serum during the development of experimental liver fibrosis. | Weber W, etal., J Clin Chem Clin Biochem. 1983 May;21(5):287-93. |
| 30. | Enzyme replacement therapy for mucopolysaccharidosis I: a randomized, double-blinded, placebo-controlled, multinational study of recombinant human alpha-L-iduronidase (laronidase). | Wraith JE, etal., J Pediatr. 2004 May;144(5):581-8. |
| 31. | Enzyme replacement therapy in patients who have mucopolysaccharidosis I and are younger than 5 years: results of a multinational study of recombinant human alpha-L-iduronidase (laronidase). | Wraith JE, etal., Pediatrics. 2007 Jul;120(1):e37-46. doi: 10.1542/peds.2006-2156. Epub 2007 Jun 4. |
| 32. | Mucopolysaccharidosis type I: identification of common mutations that cause Hurler and Scheie syndromes in Japanese populations. | Yamagishi A, etal., Hum Mutat. 1996;7(1):23-9. |
| 33. | Treatment of the mouse model of mucopolysaccharidosis I with retrovirally transduced bone marrow. | Zheng Y, etal., Mol Genet Metab. 2003 Aug;79(4):233-44. |
| PMID:12477932 | PMID:16979922 | PMID:18022143 | PMID:19834056 | PMID:21873421 | PMID:22580166 | PMID:23376485 | PMID:23533145 | PMID:24036510 | PMID:25410057 |
| Idua (Rattus norvegicus - Norway rat) |
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| IDUA (Homo sapiens - human) |
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| Idua (Mus musculus - house mouse) |
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| Idua (Chinchilla lanigera - long-tailed chinchilla) |
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| IDUA (Pan paniscus - bonobo/pygmy chimpanzee) |
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| IDUA (Canis lupus familiaris - dog) |
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| Idua (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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| IDUA (Sus scrofa - pig) |
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| IDUA (Chlorocebus sabaeus - green monkey) |
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| Idua (Heterocephalus glaber - naked mole-rat) |
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| Idua (Rattus rattus - black rat) |
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.
Variants in Idua
114 total Variants
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| The detailed report is available here: | ![]() | Full Report | ![]() | CSV | ![]() | TAB | ![]() | Printer |
miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/). For more information about miRGate, see PMID:25858286 or access the full paper here. |
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| The following QTLs overlap with this region. | ![]() | Full Report | ![]() | CSV | ![]() | TAB | ![]() | Printer | ![]() | Gviewer |
| RH140328 |
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alimentary part of gastrointestinal system
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appendage
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circulatory system
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ectoderm
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endocrine system
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endoderm
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exocrine system
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hemolymphoid system
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hepatobiliary system
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integumental system
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mesenchyme
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mesoderm
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musculoskeletal system
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nervous system
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renal system
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reproductive system
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respiratory system
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sensory system
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visual system
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|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 16 | 12 | 67 | 163 | 91 | 90 | 59 | 92 | 59 | 6 | 356 | 192 | 11 | 142 | 81 | 92 | 31 | 17 | 17 |
| RefSeq Transcripts | NM_001172084 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| XM_008769938 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_039092145 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_039092147 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_063273312 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_063273313 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_063273315 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_341179 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XR_005492984 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XR_010057382 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XR_010057383 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| GenBank Nucleotide | AC117047 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| BC083854 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| BC103733 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| JAXUCZ010000014 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| Ensembl Acc Id: | ENSRNOT00000000048 ⟹ ENSRNOP00000000048 | ||||||||||||||||
| Type: | CODING | ||||||||||||||||
| Position: |
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| Ensembl Acc Id: | ENSRNOT00000114043 ⟹ ENSRNOP00000078233 | ||||||||||||
| Type: | CODING | ||||||||||||
| Position: |
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| RefSeq Acc Id: | NM_001172084 ⟹ NP_001165555 | ||||||||||||||||||||||||
| RefSeq Status: | VALIDATED | ||||||||||||||||||||||||
| Type: | CODING | ||||||||||||||||||||||||
| Position: |
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| Sequence: |
| RefSeq Acc Id: | XM_008769938 ⟹ XP_008768160 | ||||||||||||||||
| Type: | CODING | ||||||||||||||||
| Position: |
|
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| Sequence: |
| RefSeq Acc Id: | XM_039092145 ⟹ XP_038948073 | ||||||||||||
| Type: | CODING | ||||||||||||
| Position: |
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| RefSeq Acc Id: | XM_039092147 ⟹ XP_038948075 | ||||||||||||
| Type: | CODING | ||||||||||||
| Position: |
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| RefSeq Acc Id: | XM_063273312 ⟹ XP_063129382 | ||||||||
| Type: | CODING | ||||||||
| Position: |
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| RefSeq Acc Id: | XM_063273313 ⟹ XP_063129383 | ||||||||
| Type: | CODING | ||||||||
| Position: |
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| RefSeq Acc Id: | XM_063273315 ⟹ XP_063129385 | ||||||||
| Type: | CODING | ||||||||
| Position: |
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| RefSeq Acc Id: | XR_005492984 | ||||||||||||
| Type: | NON-CODING | ||||||||||||
| Position: |
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| RefSeq Acc Id: | XR_010057382 | ||||||||
| Type: | NON-CODING | ||||||||
| Position: |
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| RefSeq Acc Id: | XR_010057383 | ||||||||
| Type: | NON-CODING | ||||||||
| Position: |
|
| Protein RefSeqs | NP_001165555 | (Get FASTA) | NCBI Sequence Viewer |
| XP_008768160 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_038948073 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_038948075 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_063129382 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_063129383 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_063129385 | (Get FASTA) | NCBI Sequence Viewer | |
| Ensembl Protein | ENSRNOP00000000048.5 | ||
| ENSRNOP00000078233 | |||
| ENSRNOP00000078233.1 |
| RefSeq Acc Id: | NP_001165555 ⟸ NM_001172084 |
| - Peptide Label: | precursor |
| - UniProtKB: | D3ZE16 (UniProtKB/TrEMBL), A0A8I6G2G6 (UniProtKB/TrEMBL) |
| - Sequence: |
| RefSeq Acc Id: | XP_008768160 ⟸ XM_008769938 |
| - Peptide Label: | isoform X5 |
| - UniProtKB: | A0A8I6G2G6 (UniProtKB/TrEMBL) |
| - Sequence: |
| Ensembl Acc Id: | ENSRNOP00000000048 ⟸ ENSRNOT00000000048 |
| RefSeq Acc Id: | XP_038948073 ⟸ XM_039092145 |
| - Peptide Label: | isoform X2 |
| - UniProtKB: | A0A8I6G2G6 (UniProtKB/TrEMBL) |
| RefSeq Acc Id: | XP_038948075 ⟸ XM_039092147 |
| - Peptide Label: | isoform X6 |
| Ensembl Acc Id: | ENSRNOP00000078233 ⟸ ENSRNOT00000114043 |
| RefSeq Acc Id: | XP_063129385 ⟸ XM_063273315 |
| - Peptide Label: | isoform X4 |
| - UniProtKB: | A0A8I6G2G6 (UniProtKB/TrEMBL) |
| RefSeq Acc Id: | XP_063129383 ⟸ XM_063273313 |
| - Peptide Label: | isoform X3 |
| - UniProtKB: | D3ZE16 (UniProtKB/TrEMBL), A0A8I6G2G6 (UniProtKB/TrEMBL) |
| RefSeq Acc Id: | XP_063129382 ⟸ XM_063273312 |
| - Peptide Label: | isoform X1 |
| - UniProtKB: | A0A8I6G2G6 (UniProtKB/TrEMBL) |
| Name | Modeler | Protein Id | AA Range | Protein Structure |
| AF-D3ZE16-F1-model_v2 | AlphaFold | D3ZE16 | 1-643 | view protein structure |
| eQTL | View at Phenogen | |
| WGCNA | View at Phenogen | |
| Tissue/Strain Expression | View at Phenogen |
| RGD ID: | 13699144 | ||||||||
| Promoter ID: | EPDNEW_R9668 | ||||||||
| Type: | initiation region | ||||||||
| Name: | Idua_1 | ||||||||
| Description: | iduronidase, alpha-L- | ||||||||
| SO ACC ID: | SO:0000170 | ||||||||
| Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
| Experiment Methods: | Single-end sequencing. | ||||||||
| Position: |
|
| Database | Acc Id | Source(s) |
| AGR Gene | RGD:1310943 | AgrOrtholog |
| BioCyc Gene | G2FUF-16685 | BioCyc |
| Ensembl Genes | ENSRNOG00000000043 | Ensembl, ENTREZGENE, UniProtKB/TrEMBL |
| Ensembl Transcript | ENSRNOT00000000048.8 | UniProtKB/TrEMBL |
| ENSRNOT00000114043 | ENTREZGENE | |
| ENSRNOT00000114043.2 | UniProtKB/TrEMBL | |
| Gene3D-CATH | 2.60.40.10 | UniProtKB/TrEMBL |
| Glycosidases | UniProtKB/TrEMBL | |
| Glycosyl hydrolase domain, family 39 | UniProtKB/TrEMBL | |
| InterPro | GH39_as | UniProtKB/TrEMBL |
| GH39_C | UniProtKB/TrEMBL | |
| GH39_cat | UniProtKB/TrEMBL | |
| Glyco_hydro_39 | UniProtKB/TrEMBL | |
| Glycoside_hydrolase_SF | UniProtKB/TrEMBL | |
| Glycosyl_Hydrolase_39 | UniProtKB/TrEMBL | |
| Ig-like_fold | UniProtKB/TrEMBL | |
| KEGG Report | rno:360904 | UniProtKB/TrEMBL |
| NCBI Gene | Idua | ENTREZGENE |
| OMIM | 252800 | |
| PANTHER | ALPHA-L-IDURONIDASE | UniProtKB/TrEMBL |
| ALPHA-L-IDURONIDASE | UniProtKB/TrEMBL | |
| Pfam | Glyco_hydro_39 | UniProtKB/TrEMBL |
| Glyco_hydro_39_C | UniProtKB/TrEMBL | |
| PhenoGen | Idua | PhenoGen |
| PRINTS | GLHYDRLASE39 | UniProtKB/TrEMBL |
| PROSITE | GLYCOSYL_HYDROL_F39 | UniProtKB/TrEMBL |
| RatGTEx | ENSRNOG00000000043 | RatGTEx |
| Superfamily-SCOP | Glyco_hydro_cat | UniProtKB/TrEMBL |
| Glycosyl hydrolase domain | UniProtKB/TrEMBL | |
| UniProt | A0A8I6G2G6 | ENTREZGENE, UniProtKB/TrEMBL |
| D3ZE16 | ENTREZGENE, UniProtKB/TrEMBL |
| Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
|---|---|---|---|---|---|---|---|
| 2019-09-03 | Idua | alpha-L-iduronidase | Idua | iduronidase, alpha-L- | Nomenclature updated to reflect human and mouse nomenclature | 1299863 | APPROVED |
| 2012-09-25 | Idua | iduronidase, alpha-L- | Idual | iduronidase, alpha-L-like | Nomenclature updated to reflect human and mouse nomenclature | 1299863 | APPROVED |
| 2012-08-09 | Idual | iduronidase, alpha-L-like | Idua | iduronidase, alpha-L- | Nomenclature updated to reflect human and mouse nomenclature | 1299863 | APPROVED |
| 2012-07-05 | Idua | iduronidase, alpha-L- | Idua | iduronidase, alpha-L- | Gene reactivated at release of RGSC5.0 assembly | 2298974 | REACTIVATED |
| 2008-04-30 | Idua | iduronidase, alpha-L- | Idua_predicted | iduronidase, alpha-L- (predicted) | 'predicted' is removed | 2292626 | APPROVED |
| 2005-01-12 | Idua_predicted | iduronidase, alpha-L- (predicted) | Symbol and Name status set to approved | 70820 | APPROVED |