Gene
atp1a1a.1
- ID
- ZDB-GENE-001212-1
- Name
- ATPase Na+/K+ transporting subunit alpha 1a, tandem duplicate 1
- Symbol
- atp1a1a.1 Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 1 Mapping Details/Browsers
- Description
- Enables P-type sodium:potassium-exchanging transporter activity. Acts upstream of or within several processes, including brain development; heart development; and inner ear development. Predicted to be located in membrane. Predicted to be active in plasma membrane. Is expressed in several structures, including cardiovascular system; immature eye; mesoderm; nervous system; and pronephros. Human ortholog(s) of this gene implicated in Charcot-Marie-Tooth disease type 2DD. Orthologous to human ATP1A1 (ATPase Na+/K+ transporting subunit alpha 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 32 figures from 15 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- cb70 (22 images)
Wild Type Expression Summary
- All Phenotype Data
- 40 figures from 13 publications
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| hi3475Tg | Transgenic insertion | Intron 1 | Unknown | DNA | |
| la1 | Allele with one delins | Splice Junction | Splice Site | spontaneous | |
| la028094Tg | Transgenic insertion | Unknown | Unknown | DNA | |
| m115 | unknown | Unknown | Unknown | ENU | |
| m273 | unknown | Unknown | Unknown | ENU | |
| m291 | unknown | Unknown | Unknown | not specified | |
| m523 | unknown | Unknown | Unknown | ENU | |
| m883 | Allele with one point mutation | Exon 11 | Premature Stop | ENU | |
| mw15b | Allele with one delins | Exon 17 - Intron 17 Splice Junction | Splice Site | ENU | |
| s646 | unknown | Unknown | Unknown | ENU |
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| Targeting Reagent | Created Alleles | Citations |
|---|---|---|
| CRISPR1-atp1a1a.1 | (2) | |
| CRISPR2-atp1a1a.1 | (2) | |
| CRISPR3-atp1a1a.1 | (2) | |
| CRISPR4-atp1a1a.1 | (2) | |
| MO1-atp1a1a.1 | N/A | (4) |
| MO2-atp1a1a.1 | N/A | (5) |
| MO3-atp1a1a.1 | N/A | Blasiole et al., 2006 |
| MO4-atp1a1a.1 | N/A | Pott et al., 2018 |
| MO5-atp1a1a.1 | N/A | Pott et al., 2018 |
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Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| Charcot-Marie-Tooth disease type 2DD | Alliance | Charcot-Marie-Tooth disease, axonal, type 2DD | 618036 |
| Hypomagnesemia, seizures, and impaired intellectual development 2 | 618314 |
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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:Q9DGL6 | InterPro | 1028 |
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| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
atp1a1a.1-201
(1)
|
Ensembl | 3,506 nt | ||
| ncRNA |
atp1a1a.1-002
(1)
|
Ensembl | 867 nt | ||
| ncRNA |
atp1a1a.1-003
(1)
|
Ensembl | 416 nt | ||
| ncRNA |
atp1a1a.1-004
(1)
|
Ensembl | 313 nt | ||
| ncRNA |
atp1a1a.1-005
(1)
|
Ensembl | 652 nt |
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Interactions and Pathways
No data available
| Name | Type | Antigen Genes | Isotype | Host Organism | Assay | Source | Citations |
|---|---|---|---|---|---|---|---|
| Ab3-atp1a1 | polyclonal | Rabbit |
|
1 |
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Plasmids
No data available
No data available
| Relationship | Marker Type | Marker | Accession Numbers | Citations |
|---|---|---|---|---|
| Contained in | BAC | DKEY-208K14 | ZFIN Curated Data | |
| Encodes | EST | cb70 | Thisse et al., 2001 | |
| Encodes | EST | fa03c03 | Rajarao et al., 2001 | |
| Encodes | EST | fb81h09 | Rauch et al., 2003 | |
| Encodes | EST | fb92h10 | ZFIN Curated Data | |
| Encodes | cDNA | MGC:55250 | ZFIN Curated Data | |
| Encodes | cDNA | MGC:77580 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_131686 (1) | 3497 nt | ||
| Genomic | GenBank:CU185242 (2) | 180192 nt | ||
| Polypeptide | UniProtKB:Q9DGL6 (1) | 1028 aa |
- Abu Obaid, A., Ivandic, I., Korsching, S.I. (2024) Deciphering the function of the fifth class of Gα proteins: regulation of ionic homeostasis as unifying hypothesis. Cellular and molecular life sciences : CMLS. 81:213213
- Uribe-Montes, L.C., Sanabria-Camargo, C.A., Piñeros-Romero, C.C., Otálora-Tarazona, S., Ávila-Jiménez, E., Acosta-Virgüez, E., Garavito-Aguilar, Z.V. (2024) Fibronectin and Hand2 influence tubulogenesis during pronephros development and mesonephros regeneration in zebrafish (Danio rerio). PLoS One. 19:e0307390e0307390
- Jia, B.Z., Qi, Y., Wong-Campos, J.D., Megason, S.G., Cohen, A.E. (2023) A bioelectrical phase transition patterns the first vertebrate heartbeats. Nature. 622(7981):149-155
- Tao, Y., Yang, Y., Jiao, Y., Wu, S., Zhu, G., Akindolie, M.S., Zhu, T., Qu, J., Wang, L., Zhang, Y. (2020) Monobutyl phthalate (MBP) induces energy metabolism disturbances in the gills of adult zebrafish (Danio rerio). Environmental pollution (Barking, Essex : 1987). 266:115288
- Tong, S.K., Lee, H.L., Lee, Y.C., Wu, L.C., Tsou, Y.L., Lu, S.W., Shih, S.W., Hwang, P.P., Chou, M.Y. (2020) Arginine Vasopressin Modulates Ion and Acid/Base Balance by Regulating Cell Numbers of Sodium Chloride Cotransporter and H+-ATPase Rich Ionocytes. International Journal of Molecular Sciences. 21(11)
- Chen, Y.C., Liao, B.K., Lu, Y.F., Liu, Y.H., Hsieh, F.C., Hwang, P.P., Hwang, S.L. (2019) Zebrafish Klf4 maintains the ionocyte progenitor population by regulating epidermal stem cell proliferation and lateral inhibition. PLoS Genetics. 15:e1008058
- 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
- Li, P., Li, Z.H., Zhong, L. (2019) Triphenyltin exposure alters the antioxidant system, energy metabolism and the expression of genes related to physiological stress in zebrafish (Danio rerio). Comparative biochemistry and physiology. Toxicology & pharmacology : CBP. 225:108581
- Mosaliganti, K.R., Swinburne, I.A., Chan, C.U., Obholzer, N.D., Green, A.A., Tanksale, S., Mahadevan, L., Megason, S.G. (2019) Size control of the inner ear via hydraulic feedback. eLIFE. 8:
- Sun, Y., Zhang, B., Luo, L., Shi, D.L., Wang, H., Cui, Z., Huang, H., Cao, Y., Shu, X., Zhang, W., Zhou, J., Li, Y., Du, J., Zhao, Q., Chen, J., Zhong, H., Zhong, T.P., Li, L., Xiong, J.W., Peng, J., Xiao, W., Zhang, J., Yao, J., Yin, Z., Mo, X., Peng, G., Zhu, J., Chen, Y., Zhou, Y., Liu, D., Pan, W., Zhang, Y., Ruan, H., Liu, F., Zhu, Z., Meng, A., ZAKOC Consortium (2019) Systematic genome editing of the genes on zebrafish Chromosome 1 by CRISPR/Cas9. Genome research. 30(1):118-26
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