Gene
eif2ak3
- ID
- ZDB-GENE-050414-2
- Name
- eukaryotic translation initiation factor 2-alpha kinase 3
- Symbol
- eif2ak3 Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 13 Mapping Details/Browsers
- Description
- Predicted to enable protein kinase activity. Acts upstream of or within response to endoplasmic reticulum stress and response to hypoxia. Predicted to be located in endoplasmic reticulum membrane. Is expressed in brain and liver. Human ortholog(s) of this gene implicated in Wolcott-Rallison syndrome and type 1 diabetes mellitus. Orthologous to human EIF2AK3 (eukaryotic translation initiation factor 2 alpha kinase 3).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 19 figures from 17 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 |
|---|---|---|---|---|---|
| it312 | Allele with one deletion | Exon 13 | Frameshift | CRISPR | |
| la018397Tg | Transgenic insertion | Unknown | Unknown | DNA | |
| sa451 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa4496 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa42159 | Allele with one point mutation | Unknown | Premature Stop | ENU |
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Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| Wolcott-Rallison syndrome | Alliance | Wolcott-Rallison syndrome | 226980 |
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Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Active_site | IPR008271 | Serine/threonine-protein kinase, active site |
| Binding_site | IPR017441 | Protein kinase, ATP binding site |
| Domain | IPR000719 | Protein kinase domain |
| Family | IPR050339 | Cell Cycle and Stress Response Kinase |
| Homologous_superfamily | IPR011009 | Protein kinase-like domain superfamily |
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Domain Details Per Protein
| Protein | Length | Cell Cycle and Stress Response Kinase | Protein kinase, ATP binding site | Protein kinase domain | Protein kinase-like domain superfamily | Quinoprotein alcohol dehydrogenase-like superfamily | Serine/threonine-protein kinase, active site | WD40/YVTN repeat-like-containing domain superfamily |
|---|---|---|---|---|---|---|---|---|
|
UniProtKB:A0A8M2B3B8
|
1099 | |||||||
|
UniProtKB:B8JI14
|
1099 |
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| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
eif2ak3-201
(1)
|
Ensembl | 1,675 nt | ||
| mRNA |
eif2ak3-202
(1)
|
Ensembl | 3,970 nt | ||
| ncRNA |
eif2ak3-003
(1)
|
Ensembl | 580 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-12J14 | ZFIN Curated Data | |
| Encodes | cDNA | MGC:152949 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_001077149 (1) | 3970 nt | ||
| Genomic | GenBank:BX072573 (1) | 207797 nt | ||
| Polypeptide | UniProtKB:A0A8M2B3B8 (1) | 1099 aa |
- Doll, L., Welte, K., Skokowa, J., Bajoghli, B. (2024) A JAGN1-associated severe congenital neutropenia zebrafish model revealed an altered G-CSFR signaling and UPR activation. Blood advances. 8(15):4050-4065
- Xin, S., Zhang, M., Li, P., Wang, L., Zhang, X., Zhang, S., Mu, Z., Lin, H., Li, X., Liu, K. (2024) Marine-Fungus-Derived Natural Compound 4-Hydroxyphenylacetic Acid Induces Autophagy to Exert Antithrombotic Effects in Zebrafish. Marine drugs. 22(4):
- Huttner, I.G., Santiago, C.F., Jacoby, A., Cheng, D., Trivedi, G., Cull, S., Cvetkovska, J., Chand, R., Berger, J., Currie, P.D., Smith, K.A., Fatkin, D. (2023) Loss of Sec-1 Family Domain-Containing 1 (scfd1) Causes Severe Cardiac Defects and Endoplasmic Reticulum Stress in Zebrafish. Journal of cardiovascular development and disease. 10(10):
- Crouzier, L., Richard, E.M., Diez, C., Alzaeem, H., Denus, M., Cubedo, N., Delaunay, T., Glendenning, E., Baxendale, S., Liévens, J.C., Whitfield, T.T., Maurice, T., Delprat, B. (2022) Morphological, behavioral and cellular analyses revealed different phenotypes in Wolfram syndrome wfs1a and wfs1b zebrafish mutant lines. Human molecular genetics. 31(16):2711-2727
- Crouzier, L., Richard, E.M., Diez, C., Denus, M., Peyrel, A., Alzaeem, H., Cubedo, N., Delaunay, T., Maurice, T., Delprat, B. (2022) NCS1 overexpression restored mitochondrial activity and behavioral alterations in a zebrafish model of Wolfram syndrome. Molecular therapy. Methods & clinical development. 27:295-308
- Dai, W., Wang, K., Zhen, X., Huang, Z., Liu, L. (2022) Magnesium isoglycyrrhizinate attenuates acute alcohol-induced hepatic steatosis in a zebrafish model by regulating lipid metabolism and ER stress. Nutrition & metabolism. 19:23
- Li, L., Chen, M., Liu, W., Tai, P., Liu, X., Liu, J.X. (2022) Zebrafish cox17 modulates primitive erythropoiesis via regulation of mitochondrial metabolism to facilitate hypoxia tolerance. FASEB journal : official publication of the Federation of American Societies for Experimental Biology. 36:e22596
- Morgan, R., Andreassen, A.H., Åsheim, E.R., Finnøen, M.H., Dresler, G., Brembu, T., Loh, A., Miest, J.J., Jutfelt, F. (2022) Reduced physiological plasticity in a fish adapted to stable temperatures. Proceedings of the National Academy of Sciences of the United States of America. 119:e2201919119
- Nam, M.K., Moon, J.M., Kim, G.Y., Min Kim, S., Rhim, H. (2022) The Novel Human HtrA2 Ortholog in Zebrafish: New Molecular Insight and Challenges into the Imbalance of Homeostasis. Gene. 819:146263
- Singh, M.K., Yadav, R., Bhaskar, A.K., Sengupta, S., Sachidanandan, C. (2022) A diet-independent zebrafish model for NAFLD recapitulates patient lipid profiles and offers a system for small molecule screening. Biochimica et biophysica acta. Molecular and cell biology of lipids. 1868(1):159246
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