Gene
guca1aa
- ID
- ZDB-GENE-011128-5
- Name
- guanylate cyclase activator 1Aa
- Symbol
- guca1aa Nomenclature History
- Previous Names
-
- gcap1
- guca1a
- Type
- protein_coding_gene
- Location
- Chr: 4 Mapping Details/Browsers
- Description
- Enables calcium ion binding activity and calcium sensitive guanylate cyclase activator activity. Predicted to be involved in regulation of signal transduction. Predicted to be located in photoreceptor outer segment. Is expressed in eye and retina. Human ortholog(s) of this gene implicated in cone-rod dystrophy 14. Orthologous to several human genes including GUCA1ANB-GUCA1A (GUCA1ANB-GUCA1A readthrough).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 5 figures from 5 publications
- 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 |
|---|---|---|---|---|---|
| sa20274 | Allele with one point mutation | Unknown | Splice Site | ENU |
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No data available
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| cone-rod dystrophy 14 | Alliance | Cone dystrophy-3 | 602093 |
| cone-rod dystrophy 14 | Alliance | Cone-rod dystrophy 14 | 602093 |
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Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Additional Resources | Length | EF-Hand 1, calcium-binding site | EF-hand domain | EF-hand domain pair | Recoverin family |
|---|---|---|---|---|---|---|
| UniProtKB:Q90WX4 | InterPro | 189 | ||||
| UniProtKB:A0A8N7UZP3 | InterPro | 189 |
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| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
guca1a-201
(1)
|
Ensembl | 2,310 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-9A20 | ZFIN Curated Data | |
| Encodes | cDNA | MGC:73169 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_131870 (1) | 1561 nt | ||
| Genomic | GenBank:BX537162 (1) | 223816 nt | ||
| Polypeptide | UniProtKB:A0A8N7UZP3 (1) | 189 aa |
- Wu, L., Zhao, M., Chen, X., Wang, H. (2024) A miR-219-5p-bmal1b negative feedback loop contributes to circadian regulation in zebrafish. Communications biology. 7:16711671
- Liu, X., Han, S., Liu, F., Yu, S., Qin, Y., Li, J., Jia, D., Gao, P., Chen, X., Tang, Z., Liu, M., Huang, Y. (2023) Retinal degeneration in rpgra mutant zebrafish. Frontiers in cell and developmental biology. 11:11699411169941
- Cudia, D., Roseman, G.P., Assafa, T.E., Shahu, M.K., Scholten, A., Menke-Sell, S.K., Yamada, H., Koch, K.W., Milhauser, G., Ames, J.B. (2021) NMR and EPR-DEER Structure of a Dimeric Guanylate Cyclase Activator Protein-5 from Zebrafish Photoreceptors. Biochemistry. 60(41):3058-3070
- Ogawa, Y., Corbo, J.C. (2021) Partitioning of gene expression among zebrafish photoreceptor subtypes. Scientific Reports. 11:17340
- Li, Y., Zhang, J. (2020) The Effect of Acute Erythromycin Exposure on the Swimming Ability of Zebrafish (Danio rerio) and Medaka (Oryzias latipes). International Journal of Environmental Research and Public Health. 17(10):
- Chen, X., Sheng, X., Zhuang, W., Sun, X., Liu, G., Shi, X., Huang, G., Mei, Y., Li, Y., Pan, X., Liu, Y., Li, Z., Zhao, Q., Yan, B., Zhao, C. (2017) GUCA1A mutation causes maculopathy in a five-generation family with a wide spectrum of severity. Genetics in medicine : official journal of the American College of Medical Genetics. 19(8):945-954
- Lim, S., Scholten, A., Manchala, G., Cudia, D., Zlomke-Sell, S.K., Koch, K.W., Ames, J.B. (2017) Structural Characterization of Ferrous Ion Binding to Retinal Guanylate Cyclase Activator Protein-5 from Zebrafish Photoreceptors. Biochemistry. 56(51):6652-6661
- Lu, Z., Hu, X., Liu, F., Soares, D.C., Liu, X., Yu, S., Gao, M., Han, S., Qin, Y., Li, C., Jiang, T., Luo, D., Guo, A.Y., Tang, Z., Liu, M. (2017) Ablation of EYS in zebrafish causes mislocalisation of outer segment proteins, F-actin disruption and cone-rod dystrophy. Scientific Reports. 7:46098
- Yu, S., Li, C., Biswas, L., Hu, X., Liu, F., Reilly, J., Liu, X., Liu, Y., Huang, Y., Lu, Z., Han, S., Wang, L., Liu, J.Y., Jiang, T., Shu, X., Wong, F., Tang, Z., Liu, M. (2017) CERKL gene knockout disturbs photoreceptor outer segment phagocytosis and causes rod-cone dystrophy in zebrafish. Human molecular genetics. 26(12):2335-2345
- 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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