EPAS1 cDNA ORF clone, Homo sapiens (human)
| Gene Symbol | EPAS1 |
| Entrez Gene ID | 2034 |
| Full Name | endothelial PAS domain protein 1 |
| Synonyms | ECYT4, HIF2A, HLF, MOP2, PASD2, bHLHe73 |
| General protein information |
|
| Gene Type | protein-coding |
| Organism | Homo sapiens (human) |
| Genome | |
| Summary | 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]. lac of sum |
| Disorder MIM: | |
| Disorder Html: | Erythrocytosis, familial, 4, 611783 (3) |
mRNA and Protein(s)
| mRNA | Protein | Name |
|---|---|---|
| XM_011532698 | XP_011531000 | endothelial PAS domain-containing protein 1 isoform X1 |
| NM_001430 | NP_001421 | endothelial PAS domain-containing protein 1 |
| Homo sapiens (human) | EPAS1 | NP_001421.2 |
| Pan troglodytes (chimpanzee) | EPAS1 | XP_001147219.1 |
| Macaca mulatta (Rhesus monkey) | EPAS1 | XP_001112947.2 |
| Canis lupus familiaris (dog) | EPAS1 | XP_005626137.1 |
| Bos taurus (cattle) | EPAS1 | NP_777150.1 |
| Mus musculus (house mouse) | Epas1 | NP_034267.3 |
| Rattus norvegicus (Norway rat) | Epas1 | NP_075578.1 |
| Gallus gallus (chicken) | EPAS1 | NP_990138.1 |
| Danio rerio (zebrafish) | epas1b | NP_001034895.1 |
| Xenopus (Silurana) tropicalis (western clawed frog) | epas1 | NP_001005647.1 |
Related articles in PubMed
- Activation of HIF2α in kidney proximal tubule cells causes abnormal glycogen deposition but not tumorigenesis. Fu L, et al. Cancer Res, 2013 May 1. PMID 23447580.
- DCNL1 functions as a substrate sensor and activator of cullin 2-RING ligase. Heir P, et al. Mol Cell Biol, 2013 Apr. PMID 23401859.
- Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers. Lauc G, et al. PLoS Genet, 2013. PMID 23382691.
- Identification of CDCP1 as a hypoxia-inducible factor 2α (HIF-2α) target gene that is associated with survival in clear cell renal cell carcinoma patients. Emerling BM, et al. Proc Natl Acad Sci U S A, 2013 Feb 26. PMID 23378636.
- Novel HIF2A mutations disrupt oxygen sensing, leading to polycythemia, paragangliomas, and somatostatinomas. Yang C, et al. Blood, 2013 Mar 28. PMID 23361906.
See all (240) citations in PubMed
See citations in PubMed for homologs of this gene provided by HomoloGene
GeneRIFs: Gene References Into Functions What's a GeneRIF?
-
a constitutively active HIF2alpha is not sufficient to cause neoplastic transformation of proximal tubules, arguing against the idea that HIF2alpha activation is critical for ccRCC tumorigenesis
Title: Activation of HIF2α in kidney proximal tubule cells causes abnormal glycogen deposition but not tumorigenesis.
-
Hypoxia provides two mechanisms of chondroprotection in human cartilage: inducing tissue production through HIF-2alpha and inhibiting tissue destruction mainly via HIF-1alpha.
Title: Hypoxia promotes the production and inhibits the destruction of human articular cartilage.
-
reduction of HIF-2alpha expression suppressed in vitro self-renewal ability and in vivo tumor initiation in aldehyde dehydrogenase-positive 4T1 cells
Title: High aldehyde dehydrogenase activity enhances stem cell features in breast cancer cells by activating hypoxia-inducible factor-2α.
-
observations strongly suggest that EPAS1 is under selection for adaptation to the high-altitude life of Tibetan populations, including Sherpas
Title: Genetic variants in EPAS1 contribute to adaptation to high-altitude hypoxia in Sherpas.
-
2 additional unique HIF2A mutations, which disrupt the hydroxylation domain recognized by prolyl hydroxylase domain-2 containing protein, leading to stabilization of HIF-2alpha and increased expression of hypoxia-related genes.
Title: Novel HIF2A mutations disrupt oxygen sensing, leading to polycythemia, paragangliomas, and somatostatinomas.
-
Atypical osteoclast HIF-driven metabolic pathway may be an adaptive mechanism to permit rapid bone resorption in the short term while ensuring curtailment of the process in the absence of re-oxygenation.
Title: Differential regulation of HIF-mediated pathways increases mitochondrial metabolism and ATP production in hypoxic osteoclasts.
-
Blocking of HIF-2alpha prevents the promoting effects of arsenite on the neoplastic transformation, migration, and chromosomal aberrations induced by BaP in HBE cells.
Title: The inhibition of HIF-2α on the ATM/Chk-2 pathway is involved in the promotion effect of arsenite on benzo(a)pyrene-induced cell transformation.
-
These data support a critical role for CDCP1 as a unique HIF-2alpha target gene involved in the regulation of cancer metastasis.
Title: Identification of CDCP1 as a hypoxia-inducible factor 2α (HIF-2α) target gene that is associated with survival in clear cell renal cell carcinoma patients.
-
Data gathered from cell lines, tumorigenicity studies, and primary hepatocellular carcinoma samples demonstrate a negative role of HIF-2alpha in tumors, which is mediated by the TFDP3/E2F1 pathway.
Title: Hypoxia inducible factor 2 alpha inhibits hepatocellular carcinoma growth through the transcription factor dimerization partner 3/ E2F transcription factor 1-dependent apoptotic pathway.
-
findings demonstrate that HIF-2alpha is a major regulator of COX2/mPGES-1/PGE(2) pathway in colon tumors
Title: Hypoxia-inducible factor-2α is essential in activating the COX2/mPGES-1/PGE2 signaling axis in colon cancer.
The following EPAS1 gene cDNA ORF clone sequences were retrieved from the NCBI Reference Sequence Database (RefSeq). These sequences represent the protein coding region of the EPAS1 cDNA ORF which is encoded by the open reading frame (ORF) sequence. ORF sequences can be delivered in our standard vector, pcDNA3.1+/C-(K)DYK or the vector of your choice as an expression/transfection-ready ORF clone. Not the clone you want? Click here to find your clone.
| CloneID | OHu57508 | |
| Clone ID Related Accession (Same CDS sequence) | XM_011532698 | |
| Accession Version | XM_011532698.1 | Documents for ORF clone product in dufault vector |
| Sequence Information | ORF Nucleotide Sequence (Length: 2652bp) Protein sequence SNP |
|
| Vector | pcDNA3.1+/C-(K)DYK or customized vector |  User Manual |
| Clone information | Clone Map | MSDS |
| Tag on pcDNA3.1+/C-(K)DYK | C terminal DYKDDDDK tags | |
| ORF Insert Method | CloneEZ® Seamless cloning technology | |
| Structure | linear | |
| Update Date | 12-MAR-2015 | |
| Organism | Homo sapiens (human) | |
| Product | endothelial PAS domain-containing protein 1 isoform X1 | |
| Comment | MODEL REFSEQ: This record is predicted by automated computational analysis. This record is derived from a genomic sequence (NT_022184.16) annotated using gene prediction method: Gnomon, supported by mRNA and EST evidence. Also see: Documentation of NCBI's Annotation Process ##Genome-Annotation-Data-START## Annotation Provider :: NCBI Annotation Status :: Full annotation Annotation Version :: Homo sapiens Annotation Release 107 Annotation Pipeline :: NCBI eukaryotic genome annotation pipeline Annotation Software Version :: 6.2 Annotation Method :: Best-placed RefSeq; Gnomon Features Annotated :: Gene; mRNA; CDS; ncRNA ##Genome-Annotation-Data-END## | |
1 | ATGTTAGGGC TTTTTGTTTT TAAAACAGGG ACACAAAGAA GAAACAGAAG GCTGCCATAT |
The stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.
| RefSeq | XP_011531000.1 |
| CDS | 16..2667 |
| Misc Feature(1) | 88..258(+) |
| Misc Feature(2) | 97..213(+) |
| Misc Feature(3) | 121..123(+) |
| Misc Feature(4) | 139..258(+) |
| Misc Feature(5) | 343..>495(+) |
| Misc Feature(6) | 385..465(+) |
| Misc Feature(7) | 445..495(+) |
| Misc Feature(8) | 775..1074(+) |
| Misc Feature(9) | 784..1092(+) |
| Misc Feature(10) | 823..996(+) |
| Misc Feature(11) | 883..1023(+) |
| Misc Feature(12) | 1600..1704(+) |
| Misc Feature(13) | 2545..2664(+) |
| Translation |
Target ORF information:
Target ORF information:
|
 XM_011532698 |
ORF Insert Sequence:
1 | ATGTTAGGGC TTTTTGTTTT TAAAACAGGG ACACAAAGAA GAAACAGAAG GCTGCCATAT |
The stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.
| CloneID | OHu23001  |
|
| Clone ID Related Accession (Same CDS sequence) | NM_001430 | |
| Accession Version | NM_001430.4 | Documents for ORF clone product in dufault vector |
| Sequence Information | ORF Nucleotide Sequence (Length: 2613bp) Protein sequence SNP |
|
| Vector | pcDNA3.1+/C-(K)DYK or customized vector | User Manual |
| Clone information | Clone Map | MSDS |
| Tag on pcDNA3.1+/C-(K)DYK | C terminal DYKDDDDK tags | COA |
| ORF Insert Method | CloneEZ® Seamless cloning technology | |
| Structure | linear | |
| Update Date | 15-MAR-2015 | |
| Organism | Homo sapiens (human) | |
| Product | endothelial PAS domain-containing protein 1 | |
| Comment | REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AC016696.8, CD109908.1, BC051338.1, AK123845.1 and BM671511.1. This sequence is a reference standard in the RefSeqGene project. On Nov 6, 2009 this sequence version replaced gi:41327154. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC051338.1, U81984.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## COMPLETENESS: complete on the 3' end. | |
1 | ATGACAGCTG ACAAGGAGAA GAAAAGGAGT AGCTCGGAGA GGAGGAAGGA GAAGTCCCGG |
The stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.
| RefSeq | NP_001421.2 |
| CDS | 511..3123 |
| Misc Feature(1) | 484..486(+) |
| Misc Feature(2) | 544..714(+) |
| Misc Feature(3) | 553..669(+) |
| Misc Feature(4) | 577..579(+) |
| Misc Feature(5) | 595..714(+) |
| Misc Feature(6) | 799..>951(+) |
| Misc Feature(7) | 841..921(+) |
| Misc Feature(8) | 901..951(+) |
| Misc Feature(9) | 1231..1530(+) |
| Misc Feature(10) | 1240..1548(+) |
| Misc Feature(11) | 1279..1452(+) |
| Misc Feature(12) | 1339..1479(+) |
| Misc Feature(13) | 1480..1482(+) |
| Misc Feature(14) | 1996..2136(+) |
| Misc Feature(15) | 2056..2160(+) |
| Misc Feature(16) | 2998..3120(+) |
| Misc Feature(17) | 3001..3120(+) |
| Exon (1) | 1..536 Gene:EPAS1 Gene Synonym: |
| Exon (2) | 537..727 Gene:EPAS1 Gene Synonym: |
| Exon (3) | 728..879 Gene:EPAS1 Gene Synonym: |
| Exon (4) | 880..964 Gene:EPAS1 Gene Synonym: |
| Exon (5) | 965..1083 Gene:EPAS1 Gene Synonym: |
| Exon (6) | 1084..1289 Gene:EPAS1 Gene Synonym: |
| Exon (7) | 1290..1396 Gene:EPAS1 Gene Synonym: |
| Exon (8) | 1397..1544 Gene:EPAS1 Gene Synonym: |
| Exon (9) | 1545..1759 Gene:EPAS1 Gene Synonym: |
| Exon (10) | 1760..1953 Gene:EPAS1 Gene Synonym: |
| Exon (11) | 1954..2064 Gene:EPAS1 Gene Synonym: |
| Exon (12) | 2065..2555 Gene:EPAS1 Gene Synonym: |
| Exon (13) | 2556..2682 Gene:EPAS1 Gene Synonym: |
| Exon (14) | 2683..2797 Gene:EPAS1 Gene Synonym: |
| Exon (15) | 2798..2971 Gene:EPAS1 Gene Synonym: |
| Exon (16) | 2972..5166 Gene:EPAS1 Gene Synonym: |
| Translation |
Target ORF information:
Target ORF information:
|
NM_001430 |
ORF Insert Sequence:
1 | ATGACAGCTG ACAAGGAGAA GAAAAGGAGT AGCTCGGAGA GGAGGAAGGA GAAGTCCCGG |
The stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.
