| 68404 | Epas1 | endothelial PAS domain protein 1 | ENCODES a protein that exhibits cobalt ion binding; DNA-binding transcription factor activity; sequence-specific DNA binding; INVOLVED IN cellular response to hypoxia; cellular response to interleukin-1; cellular response to lipopolysaccharide; PARTICIPATES IN hypoxia inducible factor pathway; renal cell carcinoma pathway; ASSOCIATED WITH acute kidney failure; Brain Injuries; bronchopulmonary dysplasia; FOUND IN cytoplasm (ortholog); nuclear speck (ortholog); nucleoplasm (ortholog); INTERACTS WITH 17alpha-ethynylestradiol; 17beta-estradiol; 1H-benzimidazole | 6 | 13543252 | 13626147 | Rat | 473 | symbol , PhenoGen | gene, protein-coding, VALIDATED [RefSeq] |
| 68594 | EPAS1 | endothelial PAS domain protein 1 | This gene encodes a transcription factor involved in the induction of genes regulated by oxygen, which is induced as oxygen levels fall. The encoded protein contains a basic-helix-loop-helix domain protein dimerization domain as well as a domain found in proteins in signal transduction pathways whic h respond to oxygen levels. Mutations in this gene are associated with erythrocytosis familial type 4. [provided by RefSeq, Nov 2009] | 2 | 46297407 | 46386697 | Human | 544 | symbol , COSMIC , Human Proteome Map | gene, protein-coding, REVIEWED [RefSeq] |
| 68595 | Epas1 | endothelial PAS domain protein 1 | Enables DNA-binding transcription activator activity, RNA polymerase II-specific; RNA polymerase II cis-regulatory region sequence-specific DNA binding activity; and protein heterodimerization activity. Involved in mRNA transcription by RNA polymerase II; myoblast fate commitment; and positive regul ation of cold-induced thermogenesis. Acts upstream of or within several processes, including multicellular organismal-level iron ion homeostasis; norepinephrine metabolic process; and surfactant homeostasis. Located in cytoplasm and nuclear speck. Part of transcription regulator complex. Is expressed in several structures, including alimentary system; cardiovascular system; genitourinary system; nervous system; and respiratory system. Used to study newborn respiratory distress syndrome. 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). [provided by Alliance of Genome Resources, Jul 2025] | 17 | 87061292 | 87140838 | Mouse | 554 | symbol , PhenoGen , description | gene, protein-coding, VALIDATED [RefSeq] |
| 8967431 | Epas1 | endothelial PAS domain protein 1 | ENCODES a protein that exhibits cis-regulatory region sequence-specific DNA binding (ortholog); cobalt ion binding (ortholog); DNA binding (ortholog); INVOLVED IN angiogenesis (ortholog); blood vessel remodeling (ortholog); cell differentiation (ortholog); PARTICIPATES IN hypoxia inducible factor pa thway; ASSOCIATED WITH acute kidney failure (ortholog); azoospermia (ortholog); Brain Injuries (ortholog); FOUND IN cytoplasm (ortholog); nuclear speck (ortholog); nucleoplasm (ortholog) | NW_004955441 | 13244626 | 13328220 | Chinchilla | 140 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 11819442 | EPAS1 | endothelial PAS domain protein 1 | ENCODES a protein that exhibits cobalt ion binding (ortholog); DNA-binding transcription factor activity (ortholog); INVOLVED IN angiogenesis (ortholog); blood vessel remodeling (ortholog); cell differentiation (ortholog); PARTICIPATES IN hypoxia inducible factor pathway; ASSOCIATED WITH acute kidne y failure (ortholog); azoospermia (ortholog); Brain Injuries (ortholog); FOUND IN cytoplasm (inferred); nuclear speck (inferred); nucleoplasm (inferred) | 2A | 46403411 | 46492734 | Bonobo | 151 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 12133234 | EPAS1 | endothelial PAS domain protein 1 | ENCODES a protein that exhibits cobalt ion binding (ortholog); DNA-binding transcription factor activity (ortholog); INVOLVED IN angiogenesis (ortholog); blood vessel remodeling (ortholog); cell differentiation (ortholog); PARTICIPATES IN hypoxia inducible factor pathway; ASSOCIATED WITH acute kidne y failure (ortholog); azoospermia (ortholog); Brain Injuries (ortholog); FOUND IN cytoplasm (inferred); mitochondrion (inferred); nuclear speck (inferred) | 10 | 48550836 | 48636776 | Dog | 160 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 12494418 | Epas1 | endothelial PAS domain protein 1 | ENCODES a protein that exhibits cobalt ion binding (ortholog); DNA-binding transcription factor activity (ortholog); INVOLVED IN angiogenesis (ortholog); blood vessel remodeling (ortholog); cell differentiation (ortholog); PARTICIPATES IN hypoxia inducible factor pathway; ASSOCIATED WITH acute kidne y failure (ortholog); azoospermia (ortholog); Brain Injuries (ortholog); FOUND IN cytoplasm (inferred); nuclear speck (inferred); nucleoplasm (inferred) | NW_004936508 | 5855748 | 5938879 | Squirrel | 151 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 625994463 | Epas1 | endothelial PAS domain protein 1 | ENCODES a protein that exhibits cis-regulatory region sequence-specific DNA binding (ortholog); cobalt ion binding (ortholog); DNA binding (ortholog); INVOLVED IN angiogenesis (ortholog); blood vessel remodeling (ortholog); cell differentiation (ortholog); PARTICIPATES IN hypoxia inducible factor pa thway; ASSOCIATED WITH acute kidney failure (ortholog); azoospermia (ortholog); Brain Injuries (ortholog); FOUND IN cytoplasm (ortholog); nuclear speck (ortholog); nucleoplasm (ortholog) | | | | Black Rat | 140 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 18935333 | Epas1 | endothelial PAS domain protein 1 | ENCODES a protein that exhibits cis-regulatory region sequence-specific DNA binding (ortholog); cobalt ion binding (ortholog); DNA-binding transcription activator activity, RNA polymerase II-specific (ortholog); INVOLVED IN angiogenesis (ortholog); blood vessel remodeling (ortholog); cell differenti ation (ortholog); PARTICIPATES IN hypoxia inducible factor pathway; ASSOCIATED WITH acute kidney failure (ortholog); azoospermia (ortholog); Brain Injuries (ortholog); FOUND IN nucleoplasm (ortholog); RNA polymerase II transcription regulator complex (ortholog) | | | | Naked Mole-Rat | 148 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 155241920 | epas1 | | | | | | Tropical Clawed Frog | | symbol | gene, null |
| 14111739 | EPAS1 | endothelial PAS domain protein 1 | ENCODES a protein that exhibits cobalt ion binding (ortholog); DNA-binding transcription factor activity (ortholog); INVOLVED IN angiogenesis (ortholog); blood vessel remodeling (ortholog); cell differentiation (ortholog); PARTICIPATES IN hypoxia inducible factor pathway; ASSOCIATED WITH acute kidne y failure (ortholog); azoospermia (ortholog); Brain Injuries (ortholog); FOUND IN cytoplasm (inferred); nuclear speck (inferred); nucleoplasm (inferred); INTERACTS WITH deoxynivalenol | | | | Pig | 156 | symbol | gene, protein-coding, PROVISIONAL [RefSeq] |
| 18458895 | EPAS1 | endothelial PAS domain protein 1 | ENCODES a protein that exhibits cobalt ion binding (ortholog); DNA-binding transcription factor activity (ortholog); INVOLVED IN angiogenesis (ortholog); blood vessel remodeling (ortholog); cell differentiation (ortholog); PARTICIPATES IN hypoxia inducible factor pathway; ASSOCIATED WITH acute kidne y failure (ortholog); azoospermia (ortholog); Brain Injuries (ortholog); FOUND IN cytoplasm (inferred); nuclear speck (inferred); nucleoplasm (inferred) | | | | Green Monkey | 150 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 155241921 | epas1.L | | | | | | African Clawed Frog | | symbol | gene, null |
| 155240612 | epas1.S | | | | | | African Clawed Frog | | symbol | gene, null |
| 628359038 | Epas1em1Soar | endothelial PAS domain protein 1; CRISPR/Cas9 induced mutant 1, Soar | Crispr/Cas9 mediated 34 bp deletion within Exon 2 of the Epas1 gene | | | | Rat | | symbol , description , old_gene_symbol | gene, allele |