Gene
cacna1fa
- ID
- ZDB-GENE-091204-7
- Name
- calcium channel, voltage-dependent, L type, alpha 1F subunit a
- Symbol
- cacna1fa Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 8 Mapping Details/Browsers
- Description
- Predicted to enable low voltage-gated calcium channel activity and voltage-gated sodium channel activity. Acts upstream of or within synapse organization. Predicted to be part of voltage-gated sodium channel complex. Predicted to be active in neuron projection. Is expressed in heart; photoreceptor cell; and retina. Used to study congenital stationary night blindness. Human ortholog(s) of this gene implicated in Aland Island eye disease; X-linked cone-rod dystrophy 3; congenital stationary night blindness; and congenital stationary night blindness 2A. Orthologous to human CACNA1F (calcium voltage-gated channel subunit alpha1 F).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 7 figures from 4 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
Phenotype Summary
Mutations
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| s129 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| s315 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| s339 | unknown | Unknown | Unknown | ENU | |
| s343 | unknown | Unknown | Unknown | ENU | |
| s398 | unknown | Unknown | Unknown | ENU | |
| sa1321 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa7156 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa13270 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa14651 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa21366 | 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 |
|---|---|---|---|
| Aland Island eye disease | Alliance | Aland Island eye disease | 300600 |
| congenital stationary night blindness 2A | Alliance | Night blindness, congenital stationary (incomplete), 2A, X-linked | 300071 |
| X-linked cone-rod dystrophy 3 | Alliance | Cone-rod dystrophy, X-linked, 3 | 300476 |
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| Human Disease | Fish | Conditions | Citations |
|---|---|---|---|
| congenital stationary night blindness | cacna1fas315/s315 (TL) | standard conditions | Jia et al., 2014 |
| congenital stationary night blindness | cacna1fas129/s129 (TL) | standard conditions | Jia et al., 2014 |
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Domain, Family, and Site Summary
No data available
Domain Details Per Protein
No data available
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
cacna1fa-201
(1)
|
Ensembl | 1,977 nt |
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Interactions and Pathways
No data available
| Name | Type | Antigen Genes | Isotype | Host Organism | Assay | Source | Citations |
|---|---|---|---|---|---|---|---|
| Ab1-cacna1fa | polyclonal | Rabbit |
|
5 |
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Plasmids
No data available
No data available
| Relationship | Marker Type | Marker | Accession Numbers | Citations |
|---|---|---|---|---|
| Contained in | BAC | CH73-289N4 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| Genomic | GenBank:CU861668 (1) | 39569 nt |
- Shrestha, A.P., Saravanakumar, A., Konadu, B., Madireddy, S., Gibert, Y., Vaithianathan, T. (2022) Embryonic Hyperglycemia Delays the Development of Retinal Synapses in a Zebrafish Model. International Journal of Molecular Sciences. 23(17)
- Khuansuwan, S., Barnhill, L.M., Cheng, S., Bronstein, J.M. (2019) A novel transgenic zebrafish line allows for in vivo quantification of autophagic activity in neurons. Autophagy. 15(8):1322-1332
- Schlegel, D.K., Glasauer, S.M.K., Mateos, J.M., Barmettler, G., Ziegler, U., Neuhauss, S.C.F. (2019) A New Zebrafish Model for CACNA2D4-Dysfunction. Investigative ophthalmology & visual science. 60:5124-5135
- Haverinen, J., Hassinen, M., Dash, S.N., Vornanen, M. (2018) Expression of calcium channel transcripts in the zebrafish heart: dominance of T-type channels. The Journal of experimental biology. 221(Pt 10)
- Huang, D.F., Wang, M.Y., Yin, W., Ma, Y.Q., Wang, H., Xue, T., Ren, D.L., Hu, B. (2018) Zebrafish Lacking Circadian Gene per2 Exhibit Visual Function Deficiency.. Frontiers in behavioral neuroscience. 12:53
- 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
- Jia, S., Muto, A., Orisme, W., Henson, H.E., Parupalli, C., Ju, B., Baier, H., and Taylor, M.R. (2014) Zebrafish Cacna1fa is required for cone photoreceptor function and synaptic ribbon formation. Human molecular genetics. 23(11):2981-94
- Lagman, D., Ocampo Daza, D., Widmark, J., Abalo, X.M., Sundström, G., and Larhammar, D. (2013) The vertebrate ancestral repertoire of visual opsins, transducin alpha subunits and oxytocin/vasopressin receptors was established by duplication of their shared genomic region in the two rounds of early vertebrate genome duplications. BMC Evolutionary Biology. 13:238
- Muto, A., Orger, M.B., Wehman, A.M., Smear, M.C., Kay, J.N., Page-McCaw, P.S., Gahtan, E., Xiao, T., Nevin, L.M., Gosse, N.J., Staub, W., Finger-Baier, K., Baier, H. (2005) Forward Genetic Analysis of Visual Behavior in Zebrafish. PLoS Genetics. 1(5):e66
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