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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 which respond to oxygen levels. Mutations in this gene are associated with erythrocytosis familial type 4. [provided by RefSeq, Nov 2009]
EPAS1 (Endothelial PAS Domain Protein 1) is a Protein Coding gene. Diseases associated with EPAS1 include Erythrocytosis, Familial, 4 and Multiple Paragangliomas Associated With Polycythemia. Among its related pathways are Signaling by GPCR and Immune response IL-23 signaling pathway. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and protein heterodimerization activity. An important paralog of this gene is HIF1A.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000978 | RNA polymerase II proximal promoter sequence-specific DNA binding | IEA | -- |
GO:0000981 | DNA-binding transcription factor activity, RNA polymerase II-specific | ISM | 19274049 |
GO:0000987 | proximal promoter sequence-specific DNA binding | IEA | -- |
GO:0001228 | DNA-binding transcription activator activity, RNA polymerase II-specific | IEA | -- |
GO:0003677 | DNA binding | IGI | 9000051 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000790 | nuclear chromatin | ISA | -- |
GO:0005634 | nucleus | IBA | 21873635 |
GO:0005654 | nucleoplasm | TAS | -- |
GO:0005667 | transcription factor complex | IPI | 9576906 |
GO:0005737 | cytoplasm | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Regulation of activated PAK-2p34 by proteasome mediated degradation | ||
2 | HIF Repressors |
.38
.38
|
|
3 | Signaling by PTK6 |
.01
|
|
4 | Translational Control | ||
5 | Pathways in cancer |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001525 | angiogenesis | IEA | -- |
GO:0001666 | response to hypoxia | IEA,IDA | 11782478 |
GO:0001892 | embryonic placenta development | IEA | -- |
GO:0001974 | blood vessel remodeling | IEA | -- |
GO:0002027 | regulation of heart rate | IEA | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
PT2977 | Investigational | Pharma | Target | 0 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
---|
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | EPAS1 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | EPAS1 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | EPAS1 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Epas1 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Epas1 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | EPAS1 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | EPAS1 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | EPAS1 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | EPAS1 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | epas1 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | epas1b 30 31 |
|
OneToMany | |
epas1a 31 |
|
OneToMany | |||
Fruit Fly (Drosophila melanogaster) |
Insecta | sima 31 32 |
|
OneToMany | |
Worm (Caenorhabditis elegans) |
Secernentea | hif-1 31 |
|
OneToMany | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 02 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
722349 | Benign: not provided | 46,376,695(+) | C/T | SYNONYMOUS_VARIANT | |
726022 | Likely Benign: not provided | 46,380,506(+) | G/A | MISSENSE_VARIANT | |
736039 | Likely Benign: not provided | 46,378,024(+) | C/T | SYNONYMOUS_VARIANT | |
737461 | Benign: not provided | 46,376,722(+) | C/G | SYNONYMOUS_VARIANT | |
775711 | Benign: not provided | 46,382,057(+) | C/T | MISSENSE_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv149e55 | CNV | loss | 17911159 |
esv2759046 | CNV | loss | 17122850 |
esv3583779 | CNV | loss | 25503493 |
nsv1132485 | CNV | duplication | 24896259 |
nsv2714 | CNV | insertion | 18451855 |
nsv581743 | CNV | loss | 21841781 |
Disorder | Aliases | PubMed IDs |
---|---|---|
erythrocytosis, familial, 4 |
|
|
multiple paragangliomas associated with polycythemia |
|
|
autosomal dominant secondary polycythemia |
|
|
sporadic pheochromocytoma/secreting paraganglioma |
|
|
hypoxia |
|
|