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
- 11 figures from 8 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