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 have DNA-binding transcription factor activity, RNA polymerase II-specific. Involved in Notch signaling pathway and hematopoietic stem cell differentiation. Predicted to localize to nucleus. Human ortholog(s) of this gene implicated in familial erythrocytosis 4; lung non-small cell carcinoma; polycythemia; and pulmonary hypertension. Is expressed in several structures, including digestive system; gill; head; heart; and pleuroperitoneal region. Orthologous to human EPAS1 (endothelial PAS domain protein 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 9 figures from 6 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 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Domain | IPR000014 | PAS domain |
| Domain | IPR011598 | Myc-type, basic helix-loop-helix (bHLH) domain |
| Domain | IPR013655 | PAS fold-3 |
| Domain | IPR013767 | PAS fold |
| Domain | IPR014887 | HIF-1 alpha, C-terminal transactivation domain |
| Domain | IPR021537 | Hypoxia-inducible factor, alpha subunit-like |
| Family | IPR001067 | Nuclear translocator |
| Homologous_superfamily | IPR035965 | PAS domain superfamily |
| Homologous_superfamily | IPR036638 | Helix-loop-helix DNA-binding domain superfamily |
| Repeat | IPR001610 | PAC motif |
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 |
| 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 |
Interactions and Pathways
No data available
Plasmids
No data available