Endothelial PAS domain-containing protein 1
Details
- Name
- Endothelial PAS domain-containing protein 1
- Synonyms
- Basic-helix-loop-helix-PAS protein MOP2
- BHLHE73
- Class E basic helix-loop-helix protein 73
- EPAS-1
- HIF-1-alpha-like factor
- HIF-2-alpha
- HIF2-alpha
- HIF2A
- HLF
- Hypoxia-inducible factor 2-alpha
- Member of PAS protein 2
- MOP2
- PAS domain-containing protein 2
- PASD2
- Gene Name
- EPAS1
- Organism
- Humans
- Amino acid sequence
>lcl|BSEQ0052038|Endothelial PAS domain-containing protein 1 MTADKEKKRSSSERRKEKSRDAARCRRSKETEVFYELAHELPLPHSVSSHLDKASIMRLA ISFLRTHKLLSSVCSENESEAEADQQMDNLYLKALEGFIAVVTQDGDMIFLSENISKFMG LTQVELTGHSIFDFTHPCDHEEIRENLSLKNGSGFGKKSKDMSTERDFFMRMKCTVTNRG RTVNLKSATWKVLHCTGQVKVYNNCPPHNSLCGYKEPLLSCLIIMCEPIQHPSHMDIPLD SKTFLSRHSMDMKFTYCDDRITELIGYHPEELLGRSAYEFYHALDSENMTKSHQNLCTKG QVVSGQYRMLAKHGGYVWLETQGTVIYNPRNLQPQCIMCVNYVLSEIEKNDVVFSMDQTE SLFKPHLMAMNSIFDSSGKGAVSEKSNFLFTKLKEEPEELAQLAPTPGDAIISLDFGNQN FEESSAYGKAILPPSQPWATELRSHSTQSEAGSLPAFTVPQAAAPGSTTPSATSSSSSCS TPNSPEDYYTSLDNDLKIEVIEKLFAMDTEAKDQCSTQTDFNELDLETLAPYIPMDGEDF QLSPICPEERLLAENPQSTPQHCFSAMTNIFQPLAPVAPHSPFLLDKFQQQLESKKTEPE HRPMSSIFFDAGSKASLPPCCGQASTPLSSMGGRSNTQWPPDPPLHFGPTKWAVGDQRTE FLGAAPLGPPVSPPHVSTFKTRSAKGFGARGPDVLSPAMVALSNKLKLKRQLEYEEQAFQ DLSGGDPPGGSTSHLMWKRMKNLRGGSCPLMPDKPLSANVPNDKFTQNPMRGLGHPLRHL PLPQPPSAISPGENSKSRFPPQCYATQYQDYSLSSAHKVSGMASRLLGPSFESYLLPELT RYDCEVNVPVLGSSTLLQGGDLLRALDQAT
- Number of residues
- 870
- Molecular Weight
- 96458.235
- Theoretical pI
- Not Available
- GO Classification
- FunctionsDNA binding / DNA-binding transcription activator activity, RNA polymerase II-specific / DNA-binding transcription factor activity, RNA polymerase II-specific / histone acetyltransferase binding / protein heterodimerization activity / sequence-specific DNA binding / transcription factor bindingProcessesangiogenesis / blood vessel remodeling / cell maturation / cellular response to hypoxia / embryonic placenta development / erythrocyte differentiation / iron ion homeostasis / lung development / mitochondrion organization / myoblast fate commitment / norepinephrine metabolic process / positive regulation of cold-induced thermogenesis / positive regulation of transcription by RNA polymerase II / post-translational protein modification / protein ubiquitination / regulation of heart rate / regulation of transcription by RNA polymerase II / regulation of transcription from RNA polymerase II promoter in response to hypoxia / regulation of transcription from RNA polymerase II promoter in response to oxidative stress / response to hypoxia / signal transduction / surfactant homeostasis / transcription by RNA polymerase II / visual perceptionComponentscytosol / nuclear speck / nucleoplasm / nucleus / transcription factor complex
- General Function
- Transcription factor involved in the induction of oxygen regulated genes. Heterodimerizes with ARNT; heterodimer binds to core DNA sequence 5'-TACGTG-3' within the hypoxia response element (HRE) of target gene promoters (By similarity). Regulates the vascular endothelial growth factor (VEGF) expression and seems to be implicated in the development of blood vessels and the tubular system of lung. May also play a role in the formation of the endothelium that gives rise to the blood brain barrier. Potent activator of the Tie-2 tyrosine kinase expression. Activation requires recruitment of transcriptional coactivators such as CREBBP and probably EP300. Interaction with redox regulatory protein APEX seems to activate CTAD (By similarity).
- Specific Function
- Dna binding
- Pfam Domain Function
- Transmembrane Regions
- Not Available
- Cellular Location
- Nucleus
- Gene sequence
>lcl|BSEQ0052039|Endothelial PAS domain-containing protein 1 (EPAS1) ATGACAGCTGACAAGGAGAAGAAAAGGAGTAGCTCGGAGAGGAGGAAGGAGAAGTCCCGG GATGCTGCGCGGTGCCGGCGGAGCAAGGAGACGGAGGTGTTCTATGAGCTGGCCCATGAG CTGCCTCTGCCCCACAGTGTGAGCTCCCATCTGGACAAGGCCTCCATCATGCGACTGGCA ATCAGCTTCCTGCGAACACACAAGCTCCTCTCCTCAGTTTGCTCTGAAAACGAGTCCGAA GCCGAAGCTGACCAGCAGATGGACAACTTGTACCTGAAAGCCTTGGAGGGTTTCATTGCC GTGGTGACCCAAGATGGCGACATGATCTTTCTGTCAGAAAACATCAGCAAGTTCATGGGA CTTACACAGGTGGAGCTAACAGGACATAGTATCTTTGACTTCACTCATCCCTGCGACCAT GAGGAGATTCGTGAGAACCTGAGTCTCAAAAATGGCTCTGGTTTTGGGAAAAAAAGCAAA GACATGTCCACAGAGCGGGACTTCTTCATGAGGATGAAGTGCACGGTCACCAACAGAGGC CGTACTGTCAACCTCAAGTCAGCCACCTGGAAGGTCTTGCACTGCACGGGCCAGGTGAAA GTCTACAACAACTGCCCTCCTCACAATAGTCTGTGTGGCTACAAGGAGCCCCTGCTGTCC TGCCTCATCATCATGTGTGAACCAATCCAGCACCCATCCCACATGGACATCCCCCTGGAT AGCAAGACCTTCCTGAGCCGCCACAGCATGGACATGAAGTTCACCTACTGTGATGACAGA ATCACAGAACTGATTGGTTACCACCCTGAGGAGCTGCTTGGCCGCTCAGCCTATGAATTC TACCATGCGCTAGACTCCGAGAACATGACCAAGAGTCACCAGAACTTGTGCACCAAGGGT CAGGTAGTAAGTGGCCAGTACCGGATGCTCGCAAAGCATGGGGGCTACGTGTGGCTGGAG ACCCAGGGGACGGTCATCTACAACCCTCGCAACCTGCAGCCCCAGTGCATCATGTGTGTC AACTACGTCCTGAGTGAGATTGAGAAGAATGACGTGGTGTTCTCCATGGACCAGACTGAA TCCCTGTTCAAGCCCCACCTGATGGCCATGAACAGCATCTTTGATAGCAGTGGCAAGGGG GCTGTGTCTGAGAAGAGTAACTTCCTATTCACCAAGCTAAAGGAGGAGCCCGAGGAGCTG GCCCAGCTGGCTCCCACCCCAGGAGACGCCATCATCTCTCTGGATTTCGGGAATCAGAAC TTCGAGGAGTCCTCAGCCTATGGCAAGGCCATCCTGCCCCCGAGCCAGCCATGGGCCACG GAGTTGAGGAGCCACAGCACCCAGAGCGAGGCTGGGAGCCTGCCTGCCTTCACCGTGCCC CAGGCAGCTGCCCCGGGCAGCACCACCCCCAGTGCCACCAGCAGCAGCAGCAGCTGCTCC ACGCCCAATAGCCCTGAAGACTATTACACATCTTTGGATAACGACCTGAAGATTGAAGTG ATTGAGAAGCTCTTCGCCATGGACACAGAGGCCAAGGACCAATGCAGTACCCAGACGGAT TTCAATGAGCTGGACTTGGAGACACTGGCACCCTATATCCCCATGGACGGGGAAGACTTC CAGCTAAGCCCCATCTGCCCCGAGGAGCGGCTCTTGGCGGAGAACCCACAGTCCACCCCC CAGCACTGCTTCAGTGCCATGACAAACATCTTCCAGCCACTGGCCCCTGTAGCCCCGCAC AGTCCCTTCCTCCTGGACAAGTTTCAGCAGCAGCTGGAGAGCAAGAAGACAGAGCCCGAG CACCGGCCCATGTCCTCCATCTTCTTTGATGCCGGAAGCAAAGCATCCCTGCCACCGTGC TGTGGCCAGGCCAGCACCCCTCTCTCTTCCATGGGGGGCAGATCCAATACCCAGTGGCCC CCAGATCCACCATTACATTTTGGGCCCACAAAGTGGGCCGTCGGGGATCAGCGCACAGAG TTCTTGGGAGCAGCGCCGTTGGGGCCCCCTGTCTCTCCACCCCATGTCTCCACCTTCAAG ACAAGGTCTGCAAAGGGTTTTGGGGCTCGAGGCCCAGACGTGCTGAGTCCGGCCATGGTA GCCCTCTCCAACAAGCTGAAGCTGAAGCGACAGCTGGAGTATGAAGAGCAAGCCTTCCAG GACCTGAGCGGGGGGGACCCACCTGGTGGCAGCACCTCACATTTGATGTGGAAACGGATG AAGAACCTCAGGGGTGGGAGCTGCCCTTTGATGCCGGACAAGCCACTGAGCGCAAATGTA CCCAATGATAAGTTCACCCAAAACCCCATGAGGGGCCTGGGCCATCCCCTGAGACATCTG CCGCTGCCACAGCCTCCATCTGCCATCAGTCCCGGGGAGAACAGCAAGAGCAGGTTCCCC CCACAGTGCTACGCCACCCAGTACCAGGACTACAGCCTGTCGTCAGCCCACAAGGTGTCA GGCATGGCAAGCCGGCTGCTCGGGCCCTCATTTGAGTCCTACCTGCTGCCCGAACTGACC AGATATGACTGTGAGGTGAACGTGCCCGTGCTGGGAAGCTCCACGCTCCTGCAAGGAGGG GACCTCCTCAGAGCCCTGGACCAGGCCACCTGA
- Chromosome Location
- 2
- Locus
- 2p21
- External Identifiers
Resource Link UniProtKB ID Q99814 UniProtKB Entry Name EPAS1_HUMAN HGNC ID HGNC:3374 - General References
- Tian H, McKnight SL, Russell DW: Endothelial PAS domain protein 1 (EPAS1), a transcription factor selectively expressed in endothelial cells. Genes Dev. 1997 Jan 1;11(1):72-82. doi: 10.1101/gad.11.1.72. [Article]
- Hogenesch JB, Chan WK, Jackiw VH, Brown RC, Gu YZ, Pray-Grant M, Perdew GH, Bradfield CA: Characterization of a subset of the basic-helix-loop-helix-PAS superfamily that interacts with components of the dioxin signaling pathway. J Biol Chem. 1997 Mar 28;272(13):8581-93. [Article]
- Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, Jang W, Sherry S, Feolo M, Misquitta L, Lee E, Rotmistrovsky K, Greenhut SF, Schaefer CF, Buetow K, Bonner TI, Haussler D, Kent J, Kiekhaus M, Furey T, Brent M, Prange C, Schreiber K, Shapiro N, Bhat NK, Hopkins RF, Hsie F, Driscoll T, Soares MB, Casavant TL, Scheetz TE, Brown-stein MJ, Usdin TB, Toshiyuki S, Carninci P, Piao Y, Dudekula DB, Ko MS, Kawakami K, Suzuki Y, Sugano S, Gruber CE, Smith MR, Simmons B, Moore T, Waterman R, Johnson SL, Ruan Y, Wei CL, Mathavan S, Gunaratne PH, Wu J, Garcia AM, Hulyk SW, Fuh E, Yuan Y, Sneed A, Kowis C, Hodgson A, Muzny DM, McPherson J, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madari A, Young AC, Wetherby KD, Granite SJ, Kwong PN, Brinkley CP, Pearson RL, Bouffard GG, Blakesly RW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Griffith M, Griffith OL, Krzywinski MI, Liao N, Morin R, Palmquist D, Petrescu AS, Skalska U, Smailus DE, Stott JM, Schnerch A, Schein JE, Jones SJ, Holt RA, Baross A, Marra MA, Clifton S, Makowski KA, Bosak S, Malek J: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. 2004 Oct;14(10B):2121-7. [Article]
- Ema M, Hirota K, Mimura J, Abe H, Yodoi J, Sogawa K, Poellinger L, Fujii-Kuriyama Y: Molecular mechanisms of transcription activation by HLF and HIF1alpha in response to hypoxia: their stabilization and redox signal-induced interaction with CBP/p300. EMBO J. 1999 Apr 1;18(7):1905-14. [Article]
- Furlow PW, Percy MJ, Sutherland S, Bierl C, McMullin MF, Master SR, Lappin TR, Lee FS: Erythrocytosis-associated HIF-2alpha mutations demonstrate a critical role for residues C-terminal to the hydroxylacceptor proline. J Biol Chem. 2009 Apr 3;284(14):9050-8. doi: 10.1074/jbc.M808737200. Epub 2009 Feb 10. [Article]
- Card PB, Erbel PJ, Gardner KH: Structural basis of ARNT PAS-B dimerization: use of a common beta-sheet interface for hetero- and homodimerization. J Mol Biol. 2005 Oct 28;353(3):664-77. doi: 10.1016/j.jmb.2005.08.043. Epub 2005 Sep 6. [Article]
- Percy MJ, Beer PA, Campbell G, Dekker AW, Green AR, Oscier D, Rainey MG, van Wijk R, Wood M, Lappin TR, McMullin MF, Lee FS: Novel exon 12 mutations in the HIF2A gene associated with erythrocytosis. Blood. 2008 Jun 1;111(11):5400-2. doi: 10.1182/blood-2008-02-137703. Epub 2008 Mar 31. [Article]
- Percy MJ, Furlow PW, Lucas GS, Li X, Lappin TR, McMullin MF, Lee FS: A gain-of-function mutation in the HIF2A gene in familial erythrocytosis. N Engl J Med. 2008 Jan 10;358(2):162-8. doi: 10.1056/NEJMoa073123. [Article]
- Percy MJ, Chung YJ, Harrison C, Mercieca J, Hoffbrand AV, Dinardo CL, Santos PC, Fonseca GH, Gualandro SF, Pereira AC, Lappin TR, McMullin MF, Lee FS: Two new mutations in the HIF2A gene associated with erythrocytosis. Am J Hematol. 2012 Apr;87(4):439-42. doi: 10.1002/ajh.23123. Epub 2012 Feb 24. [Article]