Homo sapiens endothelial PAS domain protein 1 (EPAS1), mRNA.
| RefSeq Version | NM_001430.4, 262527236 |
| Length | 5184 bp |
| Structure | linear |
| Update Date | 10-APR-2011 |
| 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]. |
| RefSeq | NP_001421.2 |
| CDS | 511..3123 | Exon (1) | 1..536 | Exon (2) | 1..536 | Exon (3) | 537..727 | Exon (4) | 728..879 | Exon (5) | 880..964 | Exon (6) | 965..1083 | Exon (7) | 1084..1289 | Exon (8) | 1290..1396 | Exon (9) | 1397..1544 | Exon (10) | 1545..1759 | Exon (11) | 1760..1953 | Exon (12) | 1954..2064 | Exon (13) | 2065..2555 | Exon (14) | 2556..2682 | Exon (15) | 2683..2797 | Exon (16) | 2798..2971 | Exon (17) | 2972..5166 |
| Translation | MTADKEKKRSSSERRKEKSRDAARCRRSKETEVFYELAHELPLPHSVSSHLDKASIMRLA
ISFLRTHKLLSSVCSENESEAEADQQMDNLYLKALEGFIAVVTQDGDMIFLSENISKFMG
LTQVELTGHSIFDFTHPCDHEEIRENLSLKNGSGFGKKSKDMSTERDFFMRMKCTVTNRG
RTVNLKSATWKVLHCTGQVKVYNNCPPHNSLCGYKEPLLSCLIIMCEPIQHPSHMDIPLD
SKTFLSRHSMDMKFTYCDDRITELIGYHPEELLGRSAYEFYHALDSENMTKSHQNLCTKG
QVVSGQYRMLAKHGGYVWLETQGTVIYNPRNLQPQCIMCVNYVLSEIEKNDVVFSMDQTE
SLFKPHLMAMNSIFDSSGKGAVSEKSNFLFTKLKEEPEELAQLAPTPGDAIISLDFGNQN
FEESSAYGKAILPPSQPWATELRSHSTQSEAGSLPAFTVPQAAAPGSTTPSATSSSSSCS
TPNSPEDYYTSLDNDLKIEVIEKLFAMDTEAKDQCSTQTDFNELDLETLAPYIPMDGEDF
QLSPICPEERLLAENPQSTPQHCFSAMTNIFQPLAPVAPHSPFLLDKFQQQLESKKTEPE
HRPMSSIFFDAGSKASLPPCCGQASTPLSSMGGRSNTQWPPDPPLHFGPTKWAVGDQRTE
FLGAAPLGPPVSPPHVSTFKTRSAKGFGARGPDVLSPAMVALSNKLKLKRQLEYEEQAFQ
DLSGGDPPGGSTSHLMWKRMKNLRGGSCPLMPDKPLSANVPNDKFTQNPMRGLGHPLRHL
PLPQPPSAISPGENSKSRFPPQCYATQYQDYSLSSAHKVSGMASRLLGPSFESYLLPELT
RYDCEVNVPVLGSSTLLQGGDLLRALDQAT
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| Gene Symbol | EPAS1 |
| Gene Synonym | bHLHe73; ECYT4; HIF2A; HLF; MOP2; PASD2 |
| Chromosome | 2 |
| Locus Map | 2p21-p16 |
| All Transcripts | NM_001430 |
| Title | Replication studies in various ethnic populations do not support the association of the HIF-2alpha SNP rs17039192 with knee osteoarthritis . |
| Author | Nakajima,M., Shi,D., Dai,J., Tsezou,A., Zheng,M., Norman,P.E., Takahashi,A., Ikegawa,S. and Jiang,Q. |
| Journal | Nat. Med. 17 (1), 26-27 (2011) |
| Title | Genome-wide association study of renal cell carcinoma identifies two susceptibility loci on 2p21 and 11q13.3 . |
| Author | Purdue,M.P., Johansson,M., Zelenika,D., Toro,J.R., Scelo,G., Moore,L.E., Prokhortchouk,E., Wu,X., Kiemeney,L.A., Gaborieau,V., Jacobs,K.B., Chow,W.H., Zaridze,D., Matveev,V., Lubinski,J., Trubicka,J., Szeszenia-Dabrowska,N., Lissowska,J., Rudnai,P., Fabianova,E., Bucur,A., Bencko,V., Foretova,L., Janout,V., Boffetta,P., Colt,J.S., Davis,F.G., Schwartz,K.L., Banks,R.E., Selby,P.J., Harnden,P., Berg,C.D., Hsing,A.W., Grubb,R.L. III, Boeing,H., Vineis,P., Clavel-Chapelon,F., Palli,D., Tumino,R., Krogh,V., Panico,S., Duell,E.J., Quiros,J.R., Sanchez,M.J., Navarro,C., Ardanaz,E., Dorronsoro,M., Khaw,K.T., Allen,N.E., Bueno-de-Mesquita,H.B., Peeters,P.H., Trichopoulos,D., Linseisen,J., Ljungberg,B., Overvad,K., Tjonneland,A., Romieu,I., Riboli,E., Mukeria,A., Shangina,O., Stevens,V.L., Thun,M.J., Diver,W.R., Gapstur,S.M., Pharoah,P.D., Easton,D.F., Albanes,D., Weinstein,S.J., Virtamo,J., Vatten,L., Hveem,K., Njolstad,I., Tell,G.S., Stoltenberg,C., Kumar,R., Koppova,K., Cussenot,O., Benhamou,S., Oosterwijk,E., Vermeulen,S.H., Aben,K.K., van der Marel,S.L., Ye,Y., Wood,C.G., Pu,X., Mazur,A.M., Boulygina,E.S., Chekanov,N.N., Foglio,M., Lechner,D., Gut,I., Heath,S., Blanche,H., Hutchinson,A., Thomas,G., Wang,Z., Yeager,M., Fraumeni,J.F. Jr., Skryabin,K.G., McKay,J.D., Rothman,N., Chanock,S.J., Lathrop,M. and Brennan,P. |
| Journal | Nat. Genet. 43 (1), 60-65 (2011) |
| Title | Thymosin beta4 expression correlates with lymph node metastasis through hypoxia inducible factor-alpha induction in breast cancer . |
| Author | Yoon,S.Y., Lee,H.R., Park,Y., Kim,J.H., Kim,S.Y., Yoon,S.R., Lee,W.J., Cho,B.J., Min,H., Bang,J.W., Park,H., Bang,S.I. and Cho,D. |
| Journal | Oncol. Rep. 25 (1), 23-31 (2011) |
| Title | The relationship of erythropoietin overexpression with von Hippel-Lindau tumour suppressor gene mutations between hypoxia-inducible factor-1alpha and -2alpha in sporadic clear cell renal carcinoma . |
| Author | Gong,K., Zhang,N., Zhang,K. and Na,Y. |
| Journal | Int. J. Mol. Med. 26 (6), 907-912 (2010) |
| Title | Oncogenic KRAS modulates mitochondrial metabolism in human colon cancer cells by inducing HIF-1alpha and HIF-2alpha target genes . |
| Author | Chun,S.Y., Johnson,C., Washburn,J.G., Cruz-Correa,M.R., Dang,D.T. and Dang,L.H. |
| Journal | Mol. Cancer 9, 293 (2010) |
| 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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