Gene
mpv17
- ID
- ZDB-GENE-040426-1168
- Name
- mitochondrial inner membrane protein MPV17
- Symbol
- mpv17 Nomenclature History
- Previous Names
-
- roy
- tra
- transparent
- zgc:63573
- Type
- protein_coding_gene
- Location
- Chr: 20 Mapping Details/Browsers
- Description
- Predicted to enable channel activity. Acts upstream of or within several processes, including iridophore differentiation; regulation of skeletal muscle fiber development; and regulation of triglyceride metabolic process. Predicted to be located in mitochondrial inner membrane. Predicted to be active in mitochondrion. Is expressed in axis; eye; neural crest; notochord; and optic tectum. Used to study mitochondrial DNA depletion syndrome. Human ortholog(s) of this gene implicated in Charcot-Marie-Tooth disease type 2EE and mitochondrial DNA depletion syndrome 6. Orthologous to human MPV17 (mitochondrial inner membrane protein MPV17).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 6 figures from Thisse et al., 2004
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- MGC:63573 (6 images)
Wild Type Expression Summary
- All Phenotype Data
- 24 figures from 9 publications
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| a9 | Allele with multiple variants | Unknown | Splicing Variant, Frameshift, Premature Stop | spontaneous | |
| b18 | Allele with one deletion | Unknown | Frameshift, Premature Stop | spontaneous | |
| cig10a | Allele with one deletion | Exon 2 | Unknown | CRISPR | |
| cig10b | Allele with one deletion | Exon 2 | Unknown | CRISPR | |
| ihb846 | Allele with one deletion | Exon 5 | Unknown | CRISPR | |
| mpb1 | unknown | Unknown | Unknown | not specified | |
| sa39299 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| zh706 | Allele with one delins | Exon 2 | Unknown | CRISPR | |
| zh707 | Allele with one deletion | Exon 3 | Unknown | CRISPR |
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Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| Charcot-Marie-Tooth disease type 2EE | Alliance | Charcot-Marie-Tooth disease, axonal, type 2EE | 618400 |
| mitochondrial DNA depletion syndrome 6 | Alliance | Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) | 256810 |
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| Human Disease | Fish | Conditions | Citations |
|---|---|---|---|
| mitochondrial DNA depletion syndrome | mpv17a9/a9 | standard conditions | Martorano et al., 2019 |
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Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Family | IPR007248 | Mpv17/PMP22 |
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Domain Details Per Protein
| Protein | Length | Mpv17/PMP22 |
|---|---|---|
|
UniProtKB:Q5TZ51
|
177 |
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Interactions and Pathways
No data available
Plasmids
No data available
No data available
| Relationship | Marker Type | Marker | Accession Numbers | Citations |
|---|---|---|---|---|
| Contained in | BAC | CH211-243J20 | ZFIN Curated Data | |
| Contained in | BAC | CH211-245H14 | ZFIN Curated Data | |
| Encodes | cDNA | MGC:63573 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_201165 (1) | 1339 nt | ||
| Genomic | GenBank:BX569783 (1) | 200617 nt | ||
| Polypeptide | UniProtKB:Q5TZ51 (1) | 177 aa |
- Akçaöz-Alasar, A., Tüncel, Ö., Sağlam, B., Gazaloğlu, Y., Atbinek, M., Cagiral, U., Iscan, E., Ozhan, G., Akgül, B. (2024) Epitranscriptomics m6 A analyses reveal distinct m6 A marks under tumor necrosis factor α (TNF-α)-induced apoptotic conditions in HeLa cells. Journal of Cellular Physiology. 239(4):e31176
- Arroyo, A.B., Tyrkalska, S.D., Bastida-Martínez, E., Monera-Girona, A.J., Cantón-Sandoval, J., Bernal-Carrión, M., García-Moreno, D., Elías-Arnanz, M., Mulero, V. (2024) Peds1 deficiency in zebrafish results in myeloid cell apoptosis and exacerbated inflammation. Cell death discovery. 10:388388
- Baykal, S., Yuce, Z., Ozhan, G. (2024) Phenotypically plastic drug-resistant chronic myeloid leukaemia cell line displays enhanced cellular dynamics in a zebrafish xenograft model. Journal of Cellular and Molecular Medicine. 28:e70105e70105
- Bellantoni, E., Marini, M., Chieca, M., Gabellini, C., Crapanzano, E.L., Souza Monteiro de Araujo, D., Nosi, D., Roschi, L., Landini, L., De Siena, G., Pensieri, P., Mastricci, A., Scuffi, I., Geppetti, P., Nassini, R., De Logu, F. (2024) Schwann cell transient receptor potential ankyrin 1 (TRPA1) ortholog in zebrafish larvae mediates chemotherapy-induced peripheral neuropathy. British journal of pharmacology. 181(23):4859-4873
- Casey, M.J., Chan, P.P., Li, Q., Zu, J.F., Jette, C.A., Kohler, M., Myers, B.R., Stewart, R.A. (2024) A simple and scalable zebrafish model of Sonic hedgehog medulloblastoma. Cell Reports. 43:114559114559
- Crespo, J.R., Martín-Martín, N., Garcia-Longarte, S., Corres-Mendizabal, J., Carlevaris, O., Astobiza, I., Zabala-Letona, A., Guiu, M., Azkargorta, M., Gonzalez-Lopez, M., Macías-Cámara, N., Doan, P., Elortza, F., Mendizabal, I., Westermack, J., Gomis, R.R., Ercilla, A., Carracedo, A. (2024) The PP2A regulator IER5L supports prostate cancer progression. Cell Death & Disease. 15:514514
- Fieuws, C., Bek, J.W., Parton, B., De Neef, E., De Wever, O., Hoorne, M., Estrada, M.F., Van Dorpe, J., Denys, H., Van de Vijver, K., Claes, K.B.M. (2024) Zebrafish Avatars: Toward Functional Precision Medicine in Low-Grade Serous Ovarian Cancer. Cancers. 16(10):
- Gauthier, C., Daurat, M., Ali, L.M.A., El Cheikh, K., El Bahlagui, I., Taliercio, C., Morère, E., Gary-Bobo, M., Morère, A., Garcia, M., Maynadier, M., Basile, I. (2024) Therapeutic antibody engineering for efficient targeted degradation of membrane proteins in lysosomes. Biomedicine & pharmacotherapy = Biomedecine & pharmacotherapie. 175:116707116707
- Gu, Z., Yin, J., Da Silva, C.G., Liu, Q., Cruz, L.J., Ossendorp, F., Snaar-Jagalska, E. (2024) Therapeutic liposomal combination to enhance chemotherapy response and immune activation of tumor microenvironment. Journal of controlled release : official journal of the Controlled Release Society. 373:38-54
- Habjan, E., Lepioshkin, A., Charitou, V., Egorova, A., Kazakova, E., Ho, V.Q., Bitter, W., Makarov, V., Speer, A. (2024) Modulating mycobacterial envelope integrity for antibiotic synergy with benzothiazoles. Life science alliance. 7(7):
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