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 have L-ascorbic acid binding activity; iron ion binding activity; and oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen. Predicted to be involved in oxidation-reduction process. 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
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 |
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 |
Domain Details Per Protein
| Protein | 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
|
288 | |||||
|
UniProtKB:E7F518
|
328 |
| 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 |
Interactions and Pathways
No data available
Plasmids
No data available