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Sequence in raw or FASTA format:

Database:

Blast Method:

 
 


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


RefSeq Accession Definition Services Price Order
NM_001430 Homo sapiens endothelial PAS domain protein 1 (EPAS1), mRNA. ORF Sequence $757.77
Peptide Services
Antibody Services
Protein Services


RefSeq Version NM_001430.4, 262527236
Length 5184 bp
Structure linear
Update Date 29-APR-2013
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)571..714
Misc Feature(3)571..714
Misc Feature(4)order(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)1270..1533
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
481+a, gdbSNP:201477957
551+dbSNP:
551+a, gdbSNP:73926269
656+a, cdbSNP:149898744
717+c, tdbSNP:149032648
740+dbSNP:
740+a, gdbSNP:199650758
751+a, gdbSNP:202074818
761+a, cdbSNP:139306346
811+a, gdbSNP:181240421
901+dbSNP:
901+a, gdbSNP:200773236
960+a, cdbSNP:147081628
991+dbSNP:
991+a, gdbSNP:141965374
994+a, gdbSNP:76884025
1035+a, gdbSNP:115264325
1164+dbSNP:
1164+g, tdbSNP:186340883
1188+c, tdbSNP:139953529
1249+c, tdbSNP:143507094
1250+a, gdbSNP:148453283
1251+c, tdbSNP:1804794
1254+c, tdbSNP:200574500
1300+dbSNP:
1300+c, gdbSNP:199738228
1312+c, tdbSNP:150945320
1328+g, tdbSNP:200537958
1333+c, tdbSNP:191706577
1376+c, tdbSNP:144168268
1503+dbSNP:
1503+c, tdbSNP:200678705
1519+a, gdbSNP:141158137
1587+dbSNP:
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, cdbSNP:142534349
1784+c, tdbSNP:201157854
1810+c, tdbSNP:141101216
1830+a, gdbSNP:7597411
1860+c, gdbSNP:200476418
1890+c, tdbSNP:140679254
1893+, gdbSNP:35617398
1904+c, tdbSNP:199710213
1926+c, tdbSNP:185487482
2003+dbSNP:
2003+c, tdbSNP:145682196
2025+c, tdbSNP:143242674
2094+dbSNP:
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
2168+c, tdbSNP:201311893
2187+c, tdbSNP:147377225
2190+c, gdbSNP:139561166
2196+a, cdbSNP:34440936
2203+a, gdbSNP:11545018
2222+c, tdbSNP:75517710
2247+a, gdbSNP:184760160
2254+c, gdbSNP:112574788
2308+a, gdbSNP:201270032
2314+c, tdbSNP:201987694
2315+a, gdbSNP:200433006
2334+c, gdbSNP:201500220
2343+c, tdbSNP:41281469
2344+a, gdbSNP:142445582
2352+a, gdbSNP:140658966
2415+a, cdbSNP:140999139
2418+a, g, tdbSNP:35606117
2420+c, tdbSNP:201839288
2424+a, gdbSNP:146139781
2433+a, gdbSNP:142779299
2448..2449+, tdbSNP:36058518
2473+a, gdbSNP:201673782
2475+a, gdbSNP:137974504
2483+a, gdbSNP:112301187
2507+c, tdbSNP:149676792
2519+c, gdbSNP:139763806
2586+dbSNP:
2586+a, gdbSNP:146613530
2602+c, gdbSNP:151285350
2649+c, gdbSNP:140445792
2652+c, tdbSNP:141452072
2676+a, gdbSNP:147304489
2681+a, gdbSNP:200723248
2756+dbSNP:
2756+a, cdbSNP:149519216
2765+c, tdbSNP:113593554
2769+g, tdbSNP:200369398
2786+a, gdbSNP:189263322
2806+dbSNP:
2806+a, cdbSNP:59901247
2807+c, tdbSNP:146164542
2852+c, tdbSNP:199997193
2862+a, gdbSNP:115842412
2863+a, cdbSNP:61518065
2903+g, tdbSNP:148536023
2923+a, gdbSNP:147672406
2937+c, gdbSNP:112054622
2952+a, gdbSNP:4953362
2967+a, gdbSNP:149994721
3006+a, gdbSNP:183095352
3009+c, gdbSNP:137876262
3021+a, gdbSNP:35795449
3048+g, tdbSNP:193055857
3052+a, gdbSNP:141498636
3156+c, gdbSNP:1057773
3164+c, tdbSNP:201794727
3177+c, tdbSNP:142847751
3185+a, gdbSNP:184846725
3198+a, gdbSNP:189988128
3213+c, tdbSNP:151042657
3234+a, gdbSNP:62137032
3302+a, tdbSNP:112311474
3331+c, tdbSNP:139675215
3343+a, tdbSNP: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..3653+, tttdbSNP:75932330
3651..3652+, ttdbSNP:57786237
3651+, ttdbSNP:10595196
3664+g, tdbSNP:202047702
3668..3669+, aadbSNP:71657608
3676+c, tdbSNP:140394706
3698+a, cdbSNP:112556309
3700+a, gdbSNP:190042372
3725+c, gdbSNP:78271294
3755+a, gdbSNP:144975161
3824..3825+, tgagdbSNP:139377540
3913+c, tdbSNP:149064869
3914+a, gdbSNP:182115862
3918+a, gdbSNP:186652898
3933..3934+, adbSNP:200260946
3965+a, cdbSNP:143059873
3976+a, gdbSNP:10495933
4121+a, gdbSNP:74562492
4151+c, tdbSNP:191609805
4163..4164+, gdbSNP:111426869
4330+a, cdbSNP:116816939
4349+a, gdbSNP:185118918
4362+c, tdbSNP: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
4847+a, gdbSNP:114927662
4854+a, tdbSNP:183365220
4973+a, gdbSNP:11539646
5000..5001+, aaaadbSNP:199667593
5034+c, tdbSNP:77260227
5142..5143+, taaagdbSNP:199501287
5159+g, tdbSNP:188922948
Gene SymbolEPAS1
Gene SynonymbHLHe73; ECYT4; HIF2A; HLF; MOP2; PASD2
Chromosome2
Locus Map2p21-p16
All Transcripts
RefSeq Accession Definition Sequence Price Select
NM_001430 Homo sapiens endothelial PAS domain protein 1 (EPAS1), mRNA. Full Length $2332.80
ORF Sequence $757.77
Title Hypoxia inducible factor 2 alpha inhibits hepatocellular carcinoma growth through the transcription factor dimerization partner 3/ E2F transcription factor 1-dependent apoptotic pathway .
Author Sun,H.X., Xu,Y., Yang,X.R., Wang,W.M., Bai,H., Shi,R.Y., Nayar,S.K., Devbhandari,R.P., He,Y.Z., Zhu,Q.F., Sun,Y.F., Hu,B., Khan,M., Anders,R.A. and Fan,J.
Journal Hepatology 57 (3), 1088-1097 (2013)
Title The accumulations of HIF-1alpha and HIF-2alpha by JNK and ERK are involved in biphasic effects induced by different levels of arsenite in human bronchial epithelial cells .
Author Xu,Y., Li,Y., Li,H., Pang,Y., Zhao,Y., Jiang,R., Shen,L., Zhou,J., Wang,X. and Liu,Q.
Journal Toxicol. Appl. Pharmacol. 266 (2), 187-197 (2013)
Title Hypoxia-inducible factor-2alpha is essential in activating the COX2/mPGES-1/PGE2 signaling axis in colon cancer .
Author Xue,X. and Shah,Y.M.
Journal Carcinogenesis 34 (1), 163-169 (2013)
Title HIF2alpha acts as an mTORC1 activator through the amino acid carrier SLC7A5 .
Author Elorza,A., Soro-Arnaiz,I., Melendez-Rodriguez,F., Rodriguez-Vaello,V., Marsboom,G., de Carcer,G., Acosta-Iborra,B., Albacete-Albacete,L., Ordonez,A., Serrano-Oviedo,L., Gimenez-Bachs,J.M., Vara-Vega,A., Salinas,A., Sanchez-Prieto,R., Martin del Rio,R., Sanchez-Madrid,F., Malumbres,M., Landazuri,M.O. and Aragones,J.
Journal Mol. Cell 48 (5), 681-691 (2012)
Title Upstream stimulatory factor 2 and hypoxia-inducible factor 2alpha (HIF2alpha) cooperatively activate HIF2 target genes during hypoxia .
Author Pawlus,M.R., Wang,L., Ware,K. and Hu,C.J.
Journal Mol. Cell. Biol. 32 (22), 4595-4610 (2012)
Title Hypoxia inducible factor-alpha binding and ubiquitylation by the von Hippel-Lindau tumor suppressor protein .
Author Cockman,M.E., Masson,N., Mole,D.R., Jaakkola,P., Chang,G.W., Clifford,S.C., Maher,E.R., Pugh,C.W., Ratcliffe,P.J. and Maxwell,P.H.
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,J.B., Gu,Y.Z., Jain,S. and Bradfield,C.A.
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,J.B., Chan,W.K., Jackiw,V.H., Brown,R.C., Gu,Y.Z., Pray-Grant,M., Perdew,G.H. and Bradfield,C.A.
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,S.L. and Russell,D.W.
Journal Genes Dev. 11 (1), 72-82 (1997)

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