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Sequence in raw or FASTA format:

Database:

Blast Method:

 
 


Homo sapiens endothelial PAS domain protein 1 (EPAS1), mRNA.


Clone ID Definition Vector Stock Status Price *Turnaround time Order
OHu23001 Homo sapiens endothelial PAS domain protein 1 (EPAS1), mRNA. pcDNA3.1+-DYK On-demand $279.00 12-14
OHu23001C Homo sapiens endothelial PAS domain protein 1 (EPAS1), mRNA. Customized vector On-demand $329.00 12-14

*Business Day

Mutation services

Sequence Information ORF Nucleotide Sequence
Protein sequence
Vector pcDNA3.1+-DYK or customized vector
Clone information Clone Map
Tag on pcDNA3.1+-DYK N terminal DYKDDDK tags
ORF Insert Method CloneEZ® Seamless cloning technology
RefSeq Version NM_001430.4, 262527236
Length 2613 bp
Structure linear
Update Date 10-MAY-2014
Organism Homo sapiens (human)
Definition Homo sapiens endothelial PAS domain protein 1 (EPAS1), mRNA.
Product endothelial PAS domain-containing protein 1
Comment

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].

RefSeq NP_001421.2
CDS 511..3123
Misc Feature(1)484..486
Misc Feature(2)544..714
Misc Feature(3)544..714
Misc Feature(4)order(553..558,574..582,586..588,658..660,667..669)
Misc Feature(5)577..579
Misc Feature(6)order(595..600,607..612,616..621,670..672,679..681,
Misc Feature(7)799..>951
Misc Feature(8)order(841..843,853..855,871..873,910..921)
Misc Feature(9)order(901..903,913..915,937..939,946..951)
Misc Feature(10)1231..1530
Misc Feature(11)1240..1548
Misc Feature(12)order(1279..1281,1291..1293,1309..1311,1348..1359,
Misc Feature(13)order(1339..1341,1351..1353,1375..1377,1384..1389,
Misc Feature(14)1480..1482
Misc Feature(15)1996..2136
Misc Feature(16)2056..2160
Misc Feature(17)2998..3120
Misc Feature(18)3001..3120
Exon (1)1..536
Gene:EPAS1
Gene Synonym:bHLHe73; ECYT4; HIF2A; HLF; MOP2; PASD2
Exon (2)537..727
Gene:EPAS1
Gene Synonym:bHLHe73; ECYT4; HIF2A; HLF; MOP2; PASD2
Exon (3)728..879
Gene:EPAS1
Gene Synonym:bHLHe73; ECYT4; HIF2A; HLF; MOP2; PASD2
Exon (4)880..964
Gene:EPAS1
Gene Synonym:bHLHe73; ECYT4; HIF2A; HLF; MOP2; PASD2
Exon (5)965..1083
Gene:EPAS1
Gene Synonym:bHLHe73; ECYT4; HIF2A; HLF; MOP2; PASD2
Exon (6)1084..1289
Gene:EPAS1
Gene Synonym:bHLHe73; ECYT4; HIF2A; HLF; MOP2; PASD2
Exon (7)1290..1396
Gene:EPAS1
Gene Synonym:bHLHe73; ECYT4; HIF2A; HLF; MOP2; PASD2
Exon (8)1397..1544
Gene:EPAS1
Gene Synonym:bHLHe73; ECYT4; HIF2A; HLF; MOP2; PASD2
Exon (9)1545..1759
Gene:EPAS1
Gene Synonym:bHLHe73; ECYT4; HIF2A; HLF; MOP2; PASD2
Exon (10)1760..1953
Gene:EPAS1
Gene Synonym:bHLHe73; ECYT4; HIF2A; HLF; MOP2; PASD2
Exon (11)1954..2064
Gene:EPAS1
Gene Synonym:bHLHe73; ECYT4; HIF2A; HLF; MOP2; PASD2
Exon (12)2065..2555
Gene:EPAS1
Gene Synonym:bHLHe73; ECYT4; HIF2A; HLF; MOP2; PASD2
Exon (13)2556..2682
Gene:EPAS1
Gene Synonym:bHLHe73; ECYT4; HIF2A; HLF; MOP2; PASD2
Exon (14)2683..2797
Gene:EPAS1
Gene Synonym:bHLHe73; ECYT4; HIF2A; HLF; MOP2; PASD2
Exon (15)2798..2971
Gene:EPAS1
Gene Synonym:bHLHe73; ECYT4; HIF2A; HLF; MOP2; PASD2
Exon (16)2972..5166
Gene:EPAS1
Gene Synonym:bHLHe73; ECYT4; HIF2A; HLF; MOP2; PASD2
Translation MTADKEKKRSSSERRKEKSRDAARCRRSKETEVFYELAHELPLPHSVSSHLDKASIMRLA ISFLRTHKLLSSVCSENESEAEADQQMDNLYLKALEGFIAVVTQDGDMIFLSENISKFMG LTQVELTGHSIFDFTHPCDHEEIRENLSLKNGSGFGKKSKDMSTERDFFMRMKCTVTNRG RTVNLKSATWKVLHCTGQVKVYNNCPPHNSLCGYKEPLLSCLIIMCEPIQHPSHMDIPLD SKTFLSRHSMDMKFTYCDDRITELIGYHPEELLGRSAYEFYHALDSENMTKSHQNLCTKG QVVSGQYRMLAKHGGYVWLETQGTVIYNPRNLQPQCIMCVNYVLSEIEKNDVVFSMDQTE SLFKPHLMAMNSIFDSSGKGAVSEKSNFLFTKLKEEPEELAQLAPTPGDAIISLDFGNQN FEESSAYGKAILPPSQPWATELRSHSTQSEAGSLPAFTVPQAAAPGSTTPSATSSSSSCS TPNSPEDYYTSLDNDLKIEVIEKLFAMDTEAKDQCSTQTDFNELDLETLAPYIPMDGEDF QLSPICPEERLLAENPQSTPQHCFSAMTNIFQPLAPVAPHSPFLLDKFQQQLESKKTEPE HRPMSSIFFDAGSKASLPPCCGQASTPLSSMGGRSNTQWPPDPPLHFGPTKWAVGDQRTE FLGAAPLGPPVSPPHVSTFKTRSAKGFGARGPDVLSPAMVALSNKLKLKRQLEYEEQAFQ DLSGGDPPGGSTSHLMWKRMKNLRGGSCPLMPDKPLSANVPNDKFTQNPMRGLGHPLRHL PLPQPPSAISPGENSKSRFPPQCYATQYQDYSLSSAHKVSGMASRLLGPSFESYLLPELT RYDCEVNVPVLGSSTLLQGGDLLRALDQAT
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Position Chain Variation Link
40+dbSNP:
40+c, tdbSNP:17039192
160..161+, tdbSNP:149642079
164+g, tdbSNP:192684713
371+a, gdbSNP:147597862
447..448+, cdbSNP:200720368
478+c, gdbSNP:368908100
481+a, gdbSNP:201477957
488+a, cdbSNP:377563141
545+dbSNP:
545+c, tdbSNP:376889179
551+a, gdbSNP:73926269
603+a, gdbSNP:370020998
656+a, cdbSNP:149898744
703+c, tdbSNP:374587818
717+c, tdbSNP:149032648
734+dbSNP:
734+c, tdbSNP:267599391
740+a, gdbSNP:199650758
742+c, gdbSNP:370125133
746+c, tdbSNP:374243090
751+a, gdbSNP:202074818
754+a, gdbSNP:367844911
761+a, cdbSNP:139306346
805+a, tdbSNP:372762773
811+a, gdbSNP:181240421
901+dbSNP:
901+a, gdbSNP:200773236
924+c, tdbSNP:374636224
976+dbSNP:
976+g, tdbSNP:377257704
991+a, gdbSNP:141965374
994+a, gdbSNP:76884025
1035+a, gdbSNP:115264325
1119+dbSNP:
1119+c, tdbSNP:374214854
1164+g, tdbSNP:186340883
1188+c, tdbSNP:139953529
1221+c, gdbSNP:368456528
1249+c, tdbSNP:143507094
1250+a, gdbSNP:148453283
1251+c, tdbSNP:1804794
1254+c, tdbSNP:200574500
1278+c, tdbSNP:374493349
1300+dbSNP:
1300+c, gdbSNP:199738228
1312+c, tdbSNP:150945320
1328+g, tdbSNP:200537958
1333+c, tdbSNP:191706577
1376+c, tdbSNP:144168268
1468+dbSNP:
1468+a, gdbSNP:377024417
1503+c, tdbSNP:200678705
1548+dbSNP:
1548+c, gdbSNP:367823134
1587+c, tdbSNP:149190271
1605+c, gdbSNP:143341794
1614+a, gdbSNP:61757375
1623+c, tdbSNP:149518347
1631+a, tdbSNP:150797491
1640+a, gdbSNP:144038192
1645+a, gdbSNP:200331105
1701+c, tdbSNP:138622780
1728+c, gdbSNP:113741213
1773+dbSNP:
1773+a, c, gdbSNP:142534349
1781+a, cdbSNP:371022645
1784+c, tdbSNP:201157854
1810+c, tdbSNP:141101216
1822+c, tdbSNP:368272792
1830+a, gdbSNP:7597411
1845+c, tdbSNP:374690052
1857+c, tdbSNP:368387065
1860+c, gdbSNP:200476418
1890+c, tdbSNP:140679254
1894+, gdbSNP:35617398
1904+c, tdbSNP:199710213
1905+a, gdbSNP:375982620
1926+c, tdbSNP:185487482
2003+dbSNP:
2003+c, tdbSNP:145682196
2025+c, tdbSNP:143242674
2061+c, gdbSNP:372040598
2066+dbSNP:
2066+c, tdbSNP:377001303
2094+a, gdbSNP:200341219
2106+c, tdbSNP:113170465
2113+a, gdbSNP:137853037
2118+c, tdbSNP:202023032
2119+a, g, tdbSNP:137853036
2121+a, gdbSNP:148051585
2152+a, gdbSNP:150597114
2163+c, gdbSNP:374241054
2168+c, tdbSNP:201311893
2176+c, gdbSNP:377300880
2187+c, tdbSNP:147377225
2190+c, gdbSNP:139561166
2196+a, cdbSNP:34440936
2203+a, gdbSNP:11545018
2210+c, tdbSNP:374224241
2222+c, tdbSNP:75517710
2246+c, tdbSNP:375648855
2247+a, gdbSNP:184760160
2254+c, gdbSNP:112574788
2262+c, gdbSNP:367769003
2308+a, gdbSNP:201270032
2314+c, tdbSNP:201987694
2315+a, gdbSNP:200433006
2321+a, tdbSNP:370619221
2334+c, gdbSNP:201500220
2343+c, tdbSNP:41281469
2344+a, gdbSNP:142445582
2352+a, gdbSNP:140658966
2363+a, cdbSNP:375421395
2367+a, gdbSNP:368729203
2372+a, gdbSNP:372877151
complement(2418)-t, g, adbSNP:35606117
2420+c, tdbSNP:201839288
2424+a, gdbSNP:146139781
2433+a, gdbSNP:142779299
2451..2452+, tdbSNP:36058518
2457+c, tdbSNP:375368276
2470+a, gdbSNP:375135104
2473+a, gdbSNP:201673782
2475+a, gdbSNP:137974504
2483+a, gdbSNP:112301187
2498+a, gdbSNP:371608362
2507+c, tdbSNP:149676792
2508+a, gdbSNP:368445079
2519+c, gdbSNP:139763806
2586+dbSNP:
2586+a, gdbSNP:146613530
2590+c, gdbSNP:375544083
2602+c, gdbSNP:151285350
2610+a, gdbSNP:367599424
2613+c, gdbSNP:371863860
2639+a, gdbSNP:376653305
2649+c, gdbSNP:140445792
2652+c, tdbSNP:141452072
2676+a, gdbSNP:147304489
2680+a, gdbSNP:369874127
2681+a, gdbSNP:200723248
2732+dbSNP:
2732+a, gdbSNP:377079962
2756+a, cdbSNP:149519216
2765+c, tdbSNP:113593554
2769+g, tdbSNP:200369398
2786+a, gdbSNP:189263322
2795+a, gdbSNP:372745004
2806+dbSNP:
2806+a, cdbSNP:59901247
2807+c, tdbSNP:146164542
2852+c, tdbSNP:199997193
2862+a, gdbSNP:115842412
2863+a, cdbSNP:61518065
2876+c, tdbSNP:376111154
2923+a, gdbSNP:147672406
2937+c, gdbSNP:112054622
2952+a, gdbSNP:4953362
2967+a, gdbSNP:149994721
2984+dbSNP:
2984+a, gdbSNP:374829070
3006+a, gdbSNP:183095352
3009+c, gdbSNP:137876262
3018+a, gdbSNP:367846993
3021+a, gdbSNP:35795449
3028+a, gdbSNP:371184501
3048+a, g, tdbSNP:193055857
3052+a, gdbSNP:141498636
3072+c, tdbSNP:374625120
3093+c, tdbSNP:376838302
3156+a, c, gdbSNP:1057773
3164+c, tdbSNP:201794727
3166+c, tdbSNP:367670779
3177+c, tdbSNP:142847751
3185+a, gdbSNP:184846725
3198+a, gdbSNP:189988128
3213+c, tdbSNP:151042657
3234+a, gdbSNP:62137032
3302+a, tdbSNP:112311474
complement(3331)-t, cdbSNP:139675215
complement(3343)-t, adbSNP:143570728
3385+a, gdbSNP:188117114
3472+c, tdbSNP:72797432
3477+c, gdbSNP:116385387
3531+c, tdbSNP:146764927
3574+c, gdbSNP:115634624
3610+a, gdbSNP:181924149
3635+a, gdbSNP:186340714
3651..3652+, ttdbSNP:57786237
3661..3663+, tttdbSNP:75932330
3662..3663+, ttdbSNP:397984477
3664+g, tdbSNP:202047702
3676+c, tdbSNP:140394706
3698+a, cdbSNP:112556309
3700+a, gdbSNP:190042372
3725+c, gdbSNP:78271294
3755+a, gdbSNP:144975161
3824..3825+, tgagdbSNP:139377540
3825..3826+, tgagdbSNP:372981474
3913+c, tdbSNP:149064869
3914+a, gdbSNP:182115862
3918+a, gdbSNP:186652898
3931+a, cdbSNP:368430355
3933..3934+, adbSNP:200260946
complement(3965)-c, adbSNP:143059873
3976+a, gdbSNP:10495933
4089+c, tdbSNP:377216737
4121+a, gdbSNP:74562492
4151+c, tdbSNP:191609805
4163..4164+, gdbSNP:111426869
4330+a, cdbSNP:116816939
4349+a, gdbSNP:185118918
complement(4362)-t, cdbSNP:11539645
4383+c, tdbSNP:148215665
4395+c, tdbSNP:115678594
4399+a, gdbSNP:1868091
4428+a, gdbSNP:78664136
4468+a, tdbSNP:6752336
4491+a, gdbSNP:113556510
4496+c, gdbSNP:112031193
4536+a, gdbSNP:140119226
4668+a, tdbSNP:189535461
4689+c, tdbSNP:111528756
4708+c, tdbSNP:72887453
4731+a, tdbSNP:113426477
4737+c, tdbSNP:112500820
4799+c, tdbSNP:375748582
4847+a, gdbSNP:114927662
4854+a, tdbSNP:183365220
complement(4973)-g, adbSNP:11539646
5000..5001+, aaaadbSNP:199667593
5034+c, tdbSNP:77260227
5142..5143+, taaagdbSNP:199501287
5144..5145+, aagtadbSNP:372928660
5159+g, tdbSNP:188922948
Gene SymbolEPAS1
Gene SynonymbHLHe73; ECYT4; HIF2A; HLF; MOP2; PASD2
Chromosome2
Locus Map2p21-p16
All Transcripts
RefSeq Accession Definition Stock Status Price Turnaround time Business Day Select
NM_001430 Homo sapiens endothelial PAS domain protein 1 (EPAS1), mRNA. On-demand $279.00 12-14
Title Tight control of hypoxia-inducible factor-alpha transient dynamics is essential for cell survival in hypoxia .
Author Bagnall J, Leedale J, Taylor SE, Spiller DG, White MR, Sharkey KJ, Bearon RN and See V.
Journal J. Biol. Chem. 289 (9), 5549-5564 (2014)
Title Dysregulated D-dopachrome tautomerase, a hypoxia-inducible factor-dependent gene, cooperates with macrophage migration inhibitory factor in renal tumorigenesis .
Author Pasupuleti V, Du W, Gupta Y, Yeh IJ, Montano M, Magi-Galuzzi C and Welford SM.
Journal J. Biol. Chem. 289 (6), 3713-3723 (2014)
Title Targeting the hypoxia-sensing pathway in clinical hematology .
Author Forristal CE and Levesque JP.
Journal Stem Cells Transl Med 3 (2), 135-140 (2014)
Title Differential roles of Sirt1 in HIF-1alpha and HIF-2alpha mediated hypoxic responses .
Author Yoon H, Shin SH, Shin DH, Chun YS and Park JW.
Journal Biochem. Biophys. Res. Commun. 444 (1), 36-43 (2014)
Title miR-218 opposes a critical RTK-HIF pathway in mesenchymal glioblastoma .
Author Mathew LK, Skuli N, Mucaj V, Lee SS, Zinn PO, Sathyan P, Imtiyaz HZ, Zhang Z, Davuluri RV, Rao S, Venneti S, Lal P, Lathia JD, Rich JN, Keith B, Minn AJ and Simon MC.
Journal Proc. Natl. Acad. Sci. U.S.A. 111 (1), 291-296 (2014)
Title Hypoxia inducible factor-alpha binding and ubiquitylation by the von Hippel-Lindau tumor suppressor protein .
Author Cockman ME, Masson N, Mole DR, Jaakkola P, Chang GW, Clifford SC, Maher ER, Pugh CW, Ratcliffe PJ and Maxwell PH.
Journal J. Biol. Chem. 275 (33), 25733-25741 (2000)
Title Molecular mechanisms of transcription activation by HLF and HIF1alpha in response to hypoxia: their stabilization and redox signal-induced interaction with CBP/p300 .
Author Ema M, Hirota K, Mimura J, Abe H, Yodoi J, Sogawa K, Poellinger L and Fujii-Kuriyama Y.
Journal EMBO J. 18 (7), 1905-1914 (1999)
Title The basic-helix-loop-helix-PAS orphan MOP3 forms transcriptionally active complexes with circadian and hypoxia factors .
Author Hogenesch JB, Gu YZ, Jain S and Bradfield CA.
Journal Proc. Natl. Acad. Sci. U.S.A. 95 (10), 5474-5479 (1998)
Title Characterization of a subset of the basic-helix-loop-helix-PAS superfamily that interacts with components of the dioxin signaling pathway .
Author Hogenesch JB, Chan WK, Jackiw VH, Brown RC, Gu YZ, Pray-Grant M, Perdew GH and Bradfield CA.
Journal J. Biol. Chem. 272 (13), 8581-8593 (1997)
Title Endothelial PAS domain protein 1 (EPAS1), a transcription factor selectively expressed in endothelial cells .
Author Tian H, McKnight SL and Russell DW.
Journal Genes Dev. 11 (1), 72-82 (1997)

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