Gene
atp1a3a
- ID
- ZDB-GENE-001212-7
- Name
- ATPase Na+/K+ transporting subunit alpha 3a
- Symbol
- atp1a3a Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 19 Mapping Details/Browsers
- Description
- Predicted to enable P-type sodium:potassium-exchanging transporter activity. Acts upstream of or within locomotory behavior and ventricular system development. Predicted to be located in membrane. Predicted to be active in plasma membrane. Is expressed in nervous system; neural tube; pancreas primordium; pronephric duct; and trigeminal placode. Human ortholog(s) of this gene implicated in alternating hemiplegia of childhood; bipolar disorder; developmental and epileptic encephalopathy 99; dystonia 12; and epilepsy. Orthologous to human ATP1A3 (ATPase Na+/K+ transporting subunit alpha 3).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 10 figures from 5 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- cb705 (18 images)
Wild Type Expression Summary
- All Phenotype Data
- 3 figures from Doganli et al., 2013
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| sa36772 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| tpl10Gt | Transgenic insertion | Unknown | Unknown | DNA | |
| u513 | Allele with one deletion | Start Codon | Unknown | CRISPR | |
| uab365 | Allele with one deletion | Unknown | Unknown | CRISPR | |
| uab366 | Allele with one MNV | Unknown | Unknown | not specified |
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| Targeting Reagent | Created Alleles | Citations |
|---|---|---|
| CRISPR1-atp1a3a | Barlow et al., 2023 | |
| CRISPR2-atp1a3a | LaCoursiere et al., 2024 | |
| CRISPR3-atp1a3a | LaCoursiere et al., 2024 | |
| MO1-atp1a3a | N/A | (2) |
| MO2-atp1a3a | N/A | Doganli et al., 2013 |
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Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| alternating hemiplegia of childhood | Alliance | Alternating hemiplegia of childhood 2 | 614820 |
| developmental and epileptic encephalopathy 99 | Alliance | Developmental and epileptic encephalopathy 99 | 619606 |
| dystonia 12 | Alliance | Dystonia-12 | 128235 |
| CAPOS syndrome | 601338 |
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Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Domain | IPR004014 | Cation-transporting P-type ATPase, N-terminal |
| Domain | IPR006068 | Cation-transporting P-type ATPase, C-terminal |
| Domain | IPR044492 | P-type ATPase, haloacid dehalogenase domain |
| Family | IPR001757 | P-type ATPase |
| Family | IPR005775 | P-type ATPase subfamily IIC, subunit alpha |
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Domain Details Per Protein
| Protein | Additional Resources | Length | Cation transport ATPase (P-type) | Cation-transporting P-type ATPase, C-terminal | Cation-transporting P-type ATPase, N-terminal | HAD-like superfamily | HAD superfamily | P-type ATPase | P-type ATPase, A domain superfamily | P-type ATPase, cytoplasmic domain N | P-type ATPase, haloacid dehalogenase domain | P-type ATPase, phosphorylation site | P-type ATPase subfamily IIC, subunit alpha | P-type ATPase, transmembrane domain superfamily |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| UniProtKB:Q6P271 | InterPro | 1023 |
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| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
atp1a3a-201
(1)
|
Ensembl | 5,379 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 | CH211-12J10 | ZFIN Curated Data | |
| Encodes | EST | cb705 | (2) | |
| Encodes | EST | fj56a06 | Rajarao et al., 2001 | |
| Encodes | EST | fb75e10 | ZFIN Curated Data | |
| Encodes | cDNA | MGC:73038 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_131684 (1) | 5312 nt | ||
| Genomic | GenBank:CR382286 (2) | 149742 nt | ||
| Polypeptide | UniProtKB:Q6P271 (2) | 1023 aa |
- LaCoursiere, C.M., Ullmann, J.F.P., Koh, H.Y., Turner, L., Baker, C.M., Robens, B., Shao, W., Rotenberg, A., McGraw, C.M., Poduri, A.H. (2024) Zebrafish models of candidate human epilepsy-associated genes provide evidence of hyperexcitability. iScience. 27:110172110172
- Barlow, I.L., Mackay, E., Wheater, E., Goel, A., Lim, S., Zimmerman, S., Woods, I., Prober, D.A., Rihel, J. (2023) The zebrafish mutant dreammist implicates sodium homeostasis in sleep regulation. eLIFE. 12:
- Zhang, J., Li, P., Sun, L., Jiang, N., Guo, W., Wang, J., Gao, F., Li, J., Li, H., Zhang, J., Mu, H., Hu, Y., Cui, X. (2023) Knockout of miR-184 in zebrafish leads to ocular abnormalities by elevating p21 levels. FASEB journal : official publication of the Federation of American Societies for Experimental Biology. 37:e22927e22927
- Song, Y., Chen, W., Zhu, B., Ge, W. (2022) Disruption of Epidermal Growth Factor Receptor but Not EGF Blocks Follicle Activation in Zebrafish Ovary. Frontiers in cell and developmental biology. 9:750888
- Ng, H.W.Y., Ogbeta, J.A., Clapcote, S.J. (2021) Genetically altered animal models for ATP1A3-related disorders. Disease models & mechanisms. 14(10)
- Esbaugh, A.J., Brix, K.V., Grosell, M. (2019) Na+ K+ ATPase isoform switching in zebrafish during transition to dilute freshwater habitats. Proceedings. Biological sciences. 286:20190630
- Sánchez, E., Azcona, L.J., Paisán-Ruiz, C. (2018) Pla2g6 Deficiency in Zebrafish Leads to Dopaminergic Cell Death, Axonal Degeneration, Increased β-Synuclein Expression, and Defects in Brain Functions and Pathways. Molecular neurobiology. 55(8):6734-6754
- Bayés, À., Collins, M.O., Reig-Viader, R., Gou, G., Goulding, D., Izquierdo, A., Choudhary, J.S., Emes, R.D., Grant, S.G. (2017) Evolution of complexity in the zebrafish synapse proteome. Nature communications. 8:14613
- Ota, S., Taimatsu, K., Yanagi, K., Namiki, T., Ohga, R., Higashijima, S.I., Kawahara, A. (2016) Functional visualization and disruption of targeted genes using CRISPR/Cas9-mediated eGFP reporter integration in zebrafish. Scientific Reports. 6:34991
- 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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