Gene
egln1a
- ID
- ZDB-GENE-110408-34
- Name
- egl-9 family hypoxia-inducible factor 1a
- Symbol
- egln1a Nomenclature History
- Previous Names
-
- si:ch1073-423n4.1 (1)
- Type
- protein_coding_gene
- Location
- Chr: 13 Mapping Details/Browsers
- Description
- Predicted to enable ferrous iron binding activity and peptidyl-proline 4-dioxygenase activity. Predicted to be involved in cellular response to hypoxia and regulation of neuron apoptotic process. Predicted to be active in cytoplasm and nucleus. Human ortholog(s) of this gene implicated in familial erythrocytosis 3; polycythemia; and renal cell carcinoma. Orthologous to human EGLN1 (egl-9 family hypoxia inducible factor 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- No data available
- 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
| Targeting Reagent | Created Alleles | Citations |
|---|---|---|
| CRISPR1-egln1a | (2) | |
| CRISPR2-egln1a | Dou et al., 2024 |
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Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| familial erythrocytosis 3 | Alliance | Erythrocytosis, familial, 3 | 609820 |
| [Hemoglobin, high altitude adaptation] | 609070 |
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Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Domain | IPR002893 | Zinc finger, MYND-type |
| Domain | IPR005123 | Oxoglutarate/iron-dependent dioxygenase domain |
| Domain | IPR006620 | Prolyl 4-hydroxylase, alpha subunit |
| Domain | IPR044862 | Prolyl 4-hydroxylase alpha subunit, Fe(2+) 2OG dioxygenase domain |
| Family | IPR051559 | Hypoxia-inducible factor prolyl hydroxylases |
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Domain Details Per Protein
| Protein | Additional Resources | Length | Hypoxia-inducible factor prolyl hydroxylases | Oxoglutarate/iron-dependent dioxygenase domain | Prolyl 4-hydroxylase, alpha subunit | Prolyl 4-hydroxylase alpha subunit, Fe(2+) 2OG dioxygenase domain | Zinc finger, MYND-type |
|---|---|---|---|---|---|---|---|
| UniProtKB:A0A8M3B5J3 | InterPro | 288 | |||||
| UniProtKB:E7F518 | InterPro | 328 | |||||
| UniProtKB:A0AB32T247 | InterPro | 290 |
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| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
egln1a-201
(1)
|
Ensembl | 991 nt | ||
| mRNA |
egln1a-202
(1)
|
Ensembl | 1,343 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 | Fosmid | CH1073-423N4 | ZFIN Curated Data | |
| Contained in | Fosmid | ZFOS-72C3 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:XM_068213117 (1) | 1749 nt | ||
| Genomic | GenBank:FP102161 (1) | 39162 nt | ||
| Polypeptide | UniProtKB:E7F518 (1) | 328 aa |
- Dou, X., Chen, Z., Liu, Y., Li, Y., Ye, J., Lu, L. (2024) Zebrafish mutants in egln1 display a hypoxic response and develop polycythemia. Life sciences. 344:122564
- Germeys, C., Vandoorne, T., Davie, K., Poovathingal, S., Heeren, K., Vermeire, W., Nami, F., Moisse, M., Quaegebeur, A., Sierksma, A., Rué, L., Sicart, A., Eykens, C., De Cock, L., De Strooper, B., Carmeliet, P., Van Damme, P., De Bock, K., Van Den Bosch, L. (2024) Targeting EGLN2/PHD1 protects motor neurons and normalizes the astrocytic interferon response. Cell Reports. 43:114719114719
- Fan, S., Wang, J., Yu, G., Rong, F., Zhang, D., Xu, C., Du, J., Li, Z., Ouyang, G., Xiao, W. (2020) TET is targeted for proteasomal degradation by the PHD-pVHL pathway to reduce DNA hydroxymethylation. The Journal of biological chemistry. 295(48):16299-16313
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