Gene
idua
- ID
- ZDB-GENE-060526-29
- Name
- alpha-L-iduronidase
- Symbol
- idua Nomenclature History
- Previous Names
-
- si:ch211-12e13.9 (1)
- Type
- protein_coding_gene
- Location
- Chr: 5 Mapping Details/Browsers
- Description
- Predicted to enable L-iduronidase activity. Predicted to act upstream of or within carbohydrate metabolic process. Human ortholog(s) of this gene implicated in Scheie syndrome; mucopolysaccharidosis I; mucopolysaccharidosis Ih; and mucopolysaccharidosis Ih/s. Orthologous to human IDUA (alpha-L-iduronidase).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- No data available
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| la025333Tg | Transgenic insertion | Unknown | Unknown | DNA | |
| sa14162 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa38450 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa40364 | Allele with one point mutation | Unknown | Premature Stop | ENU |
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Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| mucopolysaccharidosis Ih | Alliance | Mucopolysaccharidosis Ih | 607014 |
| mucopolysaccharidosis Ih/s | Alliance | Mucopolysaccharidosis Ih/s | 607015 |
| Scheie syndrome | Alliance | Mucopolysaccharidosis Is | 607016 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Active_site | IPR049165 | Glycosyl hydrolases family 39, active site |
| Domain | IPR049166 | Glycosyl hydrolases family 39, N-terminal catalytic domain |
| Domain | IPR049167 | Alpha-L-iduronidase, C-terminal domain |
| Family | IPR000514 | Glycoside hydrolase, family 39 |
| Family | IPR051923 | Glycosyl Hydrolase Family 39 |
| Homologous_superfamily | IPR013783 | Immunoglobulin-like fold |
| Homologous_superfamily | IPR017853 | Glycoside hydrolase superfamily |
Domain Details Per Protein
| Protein | Additional Resources | Length | Alpha-L-iduronidase, C-terminal domain | Glycoside hydrolase, family 39 | Glycoside hydrolase superfamily | Glycosyl Hydrolase Family 39 | Glycosyl hydrolases family 39, active site | Glycosyl hydrolases family 39, N-terminal catalytic domain | Immunoglobulin-like fold |
|---|---|---|---|---|---|---|---|---|---|
| UniProtKB:A0A8M9PQU4 | InterPro | 637 | |||||||
| UniProtKB:A2ARH2 | InterPro | 637 | |||||||
| UniProtKB:A0A8M9PRM9 | InterPro | 637 |
Interactions and Pathways
No data available
Plasmids
No data available
No data available
| Relationship | Marker Type | Marker | Accession Numbers | Citations |
|---|---|---|---|---|
| Contained in | BAC | CH211-12E13 | ZFIN Curated Data | |
| Contained in | BAC | CH211-155M12 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:XM_001923654 (1) | |||
| Genomic | GenBank:AL845369 (1) | 190981 nt | ||
| Polypeptide | UniProtKB:A0A8M9PQU4 (1) | 637 aa |
- Liu, D., Jiang, Z., Deng, L., Li, H., Jiang, H. (2023) Identification of an α-l-iduronidase (IDUA) M1T mutation in a Chinese family with autosomal recessive mucopolysaccharidosis I. Annals of the New York Academy of Sciences. 1526(1):114-125
- Elkon, R., Milon, B., Morrison, L., Shah, M., Vijayakumar, S., Racherla, M., Leitch, C.C., Silipino, L., Hadi, S., Weiss-Gayet, M., Barras, E., Schmid, C.D., Ait-Lounis, A., Barnes, A., Song, Y., Eisenman, D.J., Eliyahu, E., Frolenkov, G.I., Strome, S.E., Durand, B., Zaghloul, N.A., Jones, S.M., Reith, W., Hertzano, R. (2015) RFX transcription factors are essential for hearing in mice. Nature communications. 6:8549
- Varshney, G.K., Lu, J., Gildea, D., Huang, H., Pei, W., Yang, Z., Huang, S.C., Schoenfeld, D.S., Pho, N., Casero, D., Hirase, T., Mosbrook-Davis, D.M., Zhang, S., Jao, L.E., Zhang, B., Woods, I.G., Zimmerman, S., Schier, A.F., Wolfsberg, T., Pellegrini, M., Burgess, S.M., and Lin, S. (2013) A large-scale zebrafish gene knockout resource for the genome-wide study of gene function. Genome research. 23(4):727-735
- Wang, D., Jao, L.E., Zheng, N., Dolan, K., Ivey, J., Zonies, S., Wu, X., Wu, K., Yang, H., Meng, Q., Zhu, Z., Zhang, B., Lin, S., and Burgess, S.M. (2007) Efficient genome-wide mutagenesis of zebrafish genes by retroviral insertions. Proceedings of the National Academy of Sciences of the United States of America. 104(30):12428-12433
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