Gene
chmp5a
- ID
- ZDB-GENE-060503-60
- Name
- charged multivesicular body protein 5a
- Symbol
- chmp5a Nomenclature History
- Previous Names
-
- si:dkey-216e9.3 (1)
- Type
- protein_coding_gene
- Location
- Chr: 2 Mapping Details/Browsers
- Description
- Predicted to be involved in late endosome to vacuole transport via multivesicular body sorting pathway and vesicle budding from membrane. Predicted to act upstream of or within vacuolar transport. Predicted to be active in multivesicular body. Orthologous to human CHMP5 (charged multivesicular body protein 5).
- 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 |
|---|---|---|---|---|---|
| sa717 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa9007 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa32944 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa39848 | Allele with one point mutation | Unknown | Splice Site | ENU |
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No data available
Human Disease
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Family | IPR005024 | Snf7 family |
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Domain Details Per Protein
| Protein | Additional Resources | Length | Snf7 family |
|---|---|---|---|
| UniProtKB:E7F143 | InterPro | 251 | |
| UniProtKB:A0AB40EB21 | InterPro | 219 |
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| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
chmp5a-201
(1)
|
Ensembl | 1,038 nt | ||
| mRNA |
chmp5a-202
(1)
|
Ensembl | 678 nt |
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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 | DKEY-216E9 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:XM_681842 (1) | 1083 nt | ||
| Genomic | GenBank:AL929096 (1) | 192592 nt | ||
| Polypeptide | UniProtKB:E7F143 (1) | 251 aa |
- Dark, C., Williams, C., Bellgrove, M.A., Hawi, Z., Bryson-Richardson, R.J. (2020) Functional validation of CHMP7 as an ADHD risk gene. Translational psychiatry. 10:385
- Braasch, I., Gehrke, A.R., Smith, J.J., Kawasaki, K., Manousaki, T., Pasquier, J., Amores, A., Desvignes, T., Batzel, P., Catchen, J., Berlin, A.M., Campbell, M.S., Barrell, D., Martin, K.J., Mulley, J.F., Ravi, V., Lee, A.P., Nakamura, T., Chalopin, D., Fan, S., Wcisel, D., Cañestro, C., Sydes, J., Beaudry, F.E., Sun, Y., Hertel, J., Beam, M.J., Fasold, M., Ishiyama, M., Johnson, J., Kehr, S., Lara, M., Letaw, J.H., Litman, G.W., Litman, R.T., Mikami, M., Ota, T., Saha, N.R., Williams, L., Stadler, P.F., Wang, H., Taylor, J.S., Fontenot, Q., Ferrara, A., Searle, S.M., Aken, B., Yandell, M., Schneider, I., Yoder, J.A., Volff, J.N., Meyer, A., Amemiya, C.T., Venkatesh, B., Holland, P.W., Guiguen, Y., Bobe, J., Shubin, N.H., Di Palma, F., Alföldi, J., Lindblad-Toh, K., Postlethwait, J.H. (2016) The spotted gar genome illuminates vertebrate evolution and facilitates human-teleost comparisons. Nature Genetics. 48(4):427-37
- 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
- Briolat, V., Jouneau, L., Carvalho, R., Palha, N., Langevin, C., Herbomel, P., Schwartz, O., Spaink, H.P., Levraud, J.P., Boudinot, P. (2014) Contrasted Innate Responses to Two Viruses in Zebrafish: Insights into the Ancestral Repertoire of Vertebrate IFN-Stimulated Genes. Journal of immunology (Baltimore, Md. : 1950). 192:4328-41
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