Gene

epas1a

ID
ZDB-GENE-030131-4490
Name
endothelial PAS domain protein 1a
Symbol
epas1a Nomenclature History
Previous Names
  • hif-2aa (1)
  • HIF2B (1)
  • wu:fd10h02
Type
protein_coding_gene
Location
Chr: 12 Mapping Details/Browsers
Description
Predicted to have DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II transcription regulatory region sequence-specific DNA binding activity. Predicted to be involved in cellular response to hypoxia and regulation of transcription by RNA polymerase II. Predicted to localize to nuclear chromatin. Is expressed in several structures, including digestive system; gill; head; heart; 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
Expression
All Expression Data
6 figures from 4 publications
Cross-Species Comparison
High Throughput Data
No data available
Wild Type Expression Summary
Phenotype
All Phenotype Data
No data available
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With epas1a Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
familial erythrocytosis 4 Alliance Erythrocytosis, familial, 4 611783
Associated With epas1a Via Experimental Models
No data available
Gene Ontology
Protein Domains
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, transactivation domain, C-terminal
Family IPR001067 Nuclear translocator
Family IPR021537 Hypoxia-inducible factor, alpha subunit
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, transactivation domain, C-terminal Hypoxia-inducible factor, alpha subunit Myc-type, basic helix-loop-helix (bHLH) domain Nuclear translocator PAC motif PAS domain PAS domain superfamily PAS fold PAS fold-3
UniProtKB:E7FAJ1 842
UniProtKB:F8W2W5 810
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Ensembl Gene Tree
Citations