Gene
heatr5a
- ID
- ZDB-GENE-030616-152
- Name
- HEAT repeat containing 5a
- Symbol
- heatr5a Nomenclature History
- Previous Names
-
- si:busm1-142b24.3 (1)
- si:dz142b24.3
- zgc:63665
- Type
- protein_coding_gene
- Location
- Chr: 17 Mapping Details/Browsers
- Description
- Predicted to be involved in endocytosis; protein localization; and retrograde transport, endosome to Golgi. Predicted to be active in endocytic vesicle. Orthologous to human HEATR5A (HEAT repeat containing 5A).
- Genome Resources
- Note
-
novel protein similar to human KIAA1316 protein and fly CG2747 protein.
- 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 |
|---|---|---|---|---|---|
| la013096Tg | Transgenic insertion | Unknown | Unknown | DNA | |
| sa6480 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa14010 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa14816 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa16625 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa39164 | Allele with one point mutation | Unknown | Splice Site | ENU |
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No data available
Human Disease
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Additional Resources | Length | Armadillo-like helical | Armadillo-type fold | Laa1/Sip1/HEATR5 | Laa1/Sip1/HEATR5-like, HEAT repeat region |
|---|---|---|---|---|---|---|
| UniProtKB:A0A8M3AJX9 | InterPro | 2040 | ||||
| UniProtKB:A0A2R8S021 | InterPro | 2031 |
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| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
heatr5a-203
(1)
|
Ensembl | 6,293 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-11J8 | ZFIN Curated Data | |
| Contained in | PAC | BUSM1-142B24 | ZFIN Curated Data | |
| Has Artifact | cDNA | MGC:63665 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | GenBank:BG738292 (1) | 600 nt | ||
| Genomic | GenBank:BX465838 | 229940 nt | ||
| Polypeptide | UniProtKB:A0A8M3AJX9 (1) | 2040 aa |
- 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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