Gene
epas1a
- ID
- ZDB-GENE-030131-4490
- Name
- endothelial PAS domain protein 1a
- Symbol
- epas1a Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 12 Mapping Details/Browsers
- Description
- Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II transcription regulatory region sequence-specific DNA binding activity. Acts upstream of or within Notch signaling pathway and hematopoietic stem cell differentiation. Predicted to be located in cytoplasm and nucleus. Predicted to be part of transcription regulator complex. Is expressed in several structures, including digestive system; gill; heart; nervous system; and pleuroperitoneal region. Human ortholog(s) of this gene implicated in familial erythrocytosis 4; lung non-small cell carcinoma; polycythemia; and pulmonary hypertension. Orthologous to human EPAS1 (endothelial PAS domain protein 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 10 figures from 7 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
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| familial erythrocytosis 4 | Alliance | Erythrocytosis, familial, 4 | 611783 |
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Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | Helix-loop-helix DNA-binding domain superfamily | HIF-1 alpha, C-terminal transactivation domain | Hypoxia-inducible factor, alpha subunit-like | Myc-type, basic helix-loop-helix (bHLH) domain | Nuclear translocator | PAC motif | PAS domain | PAS domain superfamily | PAS fold | PAS fold-3 |
|---|---|---|---|---|---|---|---|---|---|---|---|
|
UniProtKB:F8W2W5
|
810 | ||||||||||
|
UniProtKB:A0A8N7UR89
|
843 | ||||||||||
|
UniProtKB:E7FAJ1
|
842 |
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| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
epas1a-201
(1)
|
Ensembl | 7,072 nt | ||
| mRNA |
epas1a-202
(1)
|
Ensembl | 5,646 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-261G23 | ZFIN Curated Data | |
| Encodes | EST | fd10h02 |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:XM_690170 (1) | 2869 nt | ||
| Genomic | GenBank:CR931998 (1) | 144369 nt | ||
| Polypeptide | UniProtKB:A0A8N7UR89 (1) | 843 aa |
- Hu, T., Liu, L., Wang, H., Yang, M., Xu, B., Xie, H., Lin, Z., Jin, X., Wang, P., Liu, Y., Sun, H., Liu, S. (2024) RCAN family member 3 deficiency contributes to noncompaction of the ventricular myocardium. Journal of genetics and genomics = Yi chuan xue bao. 51(5):543-553
- Liao, Q., Deng, H., Wang, Z., Yu, G., Zhu, C., Jia, S., Liu, W., Bai, Y., Sun, X., Chen, X., Xiao, W., Liu, X. (2023) Deletion of prolyl hydroxylase domain-containing enzyme 3 (phd3) in zebrafish facilitates hypoxia tolerance. The Journal of biological chemistry. 299(12):105420
- Liao, Q., Zhu, C., Sun, X., Wang, Z., Chen, X., Deng, H., Tang, J., Jia, S., Liu, W., Xiao, W., Liu, X. (2023) Disruption of sirtuin 7 in zebrafish facilitates hypoxia tolerance. The Journal of biological chemistry. 299(8):105074
- Zhang, R., Ma, Z., Wang, J., Fan, C. (2023) HIF signaling overactivation inhibits lateral line neuromast development through Wnt in zebrafish. Gene. 898:148077
- Capon, S.J., Uribe, V., Dominado, N., Ehrlich, O., Smith, K.A. (2022) Endocardial identity is established during early somitogenesis by Bmp signalling acting upstream of npas4l and etv2. Development (Cambridge, England). 149(9):
- Dinarello, A., Tesoriere, A., Martini, P., Fontana, C.M., Volpato, D., Badenetti, L., Terrin, F., Facchinello, N., Romualdi, C., Carnevali, O., Dalla Valle, L., Argenton, F. (2022) Zebrafish Mutant Lines Reveal the Interplay between nr3c1 and nr3c2 in the GC-Dependent Regulation of Gene Transcription. International Journal of Molecular Sciences. 23(5):
- Pan, W., Godoy, R.S., Cook, D.P., Scott, A.L., Nurse, C.A., Jonz, M.G. (2022) Single-cell transcriptomic analysis of neuroepithelial cells and other cell types of the gills of zebrafish (Danio rerio) exposed to hypoxia. Scientific Reports. 12:10144
- Li, H., Nam, Y., Huo, R., Fu, W., Biaobin, J., Zhou, Q., Song, D., Yang, Y., Jiao, Y., Weng, J., Yan, Z., Di, L., Li, J., Wang, J., Xu, H., Wang, S., Zhao, J., Wen, Z., Jiguang, W., Cao, Y. (2021) De Novo Germline and Somatic Variants Convergently Promote Endothelial-to-Mesenchymal Transition in Simplex Brain Arteriovenous Malformation. Circulation research. 129(9):825-839
- El-Brolosy, M.A., Kontarakis, Z., Rossi, A., Kuenne, C., Günther, S., Fukuda, N., Kikhi, K., Boezio, G.L.M., Takacs, C.M., Lai, S.L., Fukuda, R., Gerri, C., Giraldez, A.J., Stainier, D.Y.R. (2019) Genetic compensation triggered by mutant mRNA degradation. Nature. 568(7751):193-197
- Ma, Q., Hu, C.T., Yue, J., Luo, Y., Qiao, F., Chen, L.Q., Zhang, M.L., Du, Z.Y. (2019) High-carbohydrate diet promotes the adaptation to acute hypoxia in zebrafish. Fish physiology and biochemistry. 46(2):665-679
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