Gene
naglu
- ID
- ZDB-GENE-100726-2
- Name
- N-acetylglucosaminidase, alpha
- Symbol
- naglu Nomenclature History
- Previous Names
- None
- Type
- protein_coding_gene
- Location
- Chr: 24 Mapping Details/Browsers
- Description
- Predicted to enable hydrolase activity. Human ortholog(s) of this gene implicated in Charcot-Marie-Tooth disease axonal type 2V; mucopolysaccharidosis III; and mucopolysaccharidosis type IIIB. Orthologous to human NAGLU (N-acetyl-alpha-glucosaminidase).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 1 figure from Meireles et al., 2018
- 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
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| Charcot-Marie-Tooth disease axonal type 2V | Alliance | ?Charcot-Marie-Tooth disease, axonal, type 2V | 616491 |
| mucopolysaccharidosis type IIIB | Alliance | Mucopolysaccharidosis type IIIB (Sanfilippo B) | 252920 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Domain | IPR024240 | Alpha-N-acetylglucosaminidase, N-terminal |
| Domain | IPR024732 | Alpha-N-acetylglucosaminidase, C-terminal |
| Domain | IPR024733 | Alpha-N-acetylglucosaminidase, tim-barrel domain |
| Family | IPR007781 | Alpha-N-acetylglucosaminidase |
| Homologous_superfamily | IPR029018 | Beta-hexosaminidase-like, domain 2 |
Domain Details Per Protein
| Protein | Additional Resources | Length | Alpha-N-acetylglucosaminidase | Alpha-N-acetylglucosaminidase, C-terminal | Alpha-N-acetylglucosaminidase, N-terminal | Alpha-N-acetylglucosaminidase, tim-barrel domain | Beta-hexosaminidase-like, domain 2 |
|---|---|---|---|---|---|---|---|
| UniProtKB:A0A8M9PY33 | InterPro | 544 | |||||
| UniProtKB:E7EYP9 | InterPro | 757 |
Interactions and Pathways
No data available
Plasmids
No data available
No data available
| Relationship | Marker Type | Marker | Accession Numbers | Citations |
|---|---|---|---|---|
| Contained in | BAC | CH211-40K21 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:XM_683516 (1) | 2799 nt | ||
| Genomic | GenBank:FP089511 (1) | 158292 nt | ||
| Polypeptide | UniProtKB:E7EYP9 (1) | 757 aa |
- Baer, L., Barthelson, K., Postlethwait, J.H., Adelson, D.L., Pederson, S.M., Lardelli, M. (2024) Differential allelic representation (DAR) identifies candidate eQTLs and improves transcriptome analysis. PLoS Computational Biology. 20:e1011868e1011868
- Meireles, A.M., Shen, K., Zoupi, L., Iyer, H., Bouchard, E.L., Williams, A., Talbot, W.S. (2018) The Lysosomal Transcription Factor TFEB Represses Myelination Downstream of the Rag-Ragulator Complex. Developmental Cell. 47:319-330.e5
- 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
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