Gene
mtmr14
- ID
- ZDB-GENE-030131-2649
- Name
- myotubularin related protein 14
- Symbol
- mtmr14 Nomenclature History
- Previous Names
-
- fc14d11
- wu:fc14d11 (1)
- Type
- protein_coding_gene
- Location
- Chr: 6 Mapping Details/Browsers
- Description
- Predicted to enable phosphatidylinositol-3-phosphate phosphatase activity. Acts upstream of or within several processes, including muscle cell cellular homeostasis; musculoskeletal movement; and regulation of autophagy. Is expressed in telencephalon. Human ortholog(s) of this gene implicated in centronuclear myopathy 1. Orthologous to human MTMR14 (myotubularin related protein 14).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 1 figure from Diotel et al., 2015
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 2 figures from Dowling et al., 2010
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| sa33865 | Allele with one point mutation | Unknown | Splice Site | ENU |
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Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| centronuclear myopathy 1 | Alliance | {Centronuclear myopathy, autosomal, modifier of} | 160150 |
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Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Additional Resources | Length | MTMR14, PH-GRAM domain | Myotubularin-related protein 14 | Protein-tyrosine phosphatase, active site | Protein-tyrosine phosphatase-like |
|---|---|---|---|---|---|---|
| UniProtKB:E7F0C5 | InterPro | 630 | ||||
| UniProtKB:A0A8M3ATB6 | InterPro | 611 |
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| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
mtmr14-201
(1)
|
Ensembl | 5,230 nt |
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Interactions and Pathways
No data available
Plasmids
No data available
No data available
| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:XM_002662387 (1) | 3935 nt | ||
| Genomic | GenBank:BX936388 (1) | 113601 nt | ||
| Polypeptide | UniProtKB:E7F0C5 (1) | 630 aa |
- Diotel, N., Viales, R.R., Armant, O., März, M., Ferg, M., Rastegar, S., Strähle, U. (2015) Comprehensive expression map of transcription regulators in the adult zebrafish telencephalon reveals distinct neurogenic niches. The Journal of comparative neurology. 523(8):1202-21
- 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
- Dowling, J.J., Low, S.E., Busta, A.S., and Feldman, E.L. (2010) Zebrafish MTMR14 is required for excitation–contraction coupling, developmental motor function and the regulation of autophagy. Human molecular genetics. 19(13):2668-2681
- Gibbs, E.M., Feldman, E.L., and Dowling, J.J. (2010) The role of MTMR14 in autophagy and in muscle disease. Autophagy. 6(6):819-820
- Liu, T.X., Howlett, N.G., Deng, M., Langenau, D.M., Hsu, K., Rhodes, J., Kanki, J.P., D'Andrea, A.D., and Look, A.T. (2003) Knockdown of zebrafish fancd2 causes developmental abnormalities via p53-dependent apoptosis. Developmental Cell. 5(6):903-914
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