Sequence in raw or FASTA format:
Homo sapiens egl nine homolog 1 (C. elegans) (EGLN1), mRNA.
| RefSeq Version | NM_022051.2, 237649101 |
| Length | 7102 bp |
| Structure | linear |
| Update Date | 20-MAR-2011 |
| Organism | Homo sapiens (human) |
| Definition | Homo sapiens egl nine homolog 1 (C. elegans) (EGLN1), mRNA. |
| Product | egl nine homolog 1 |
| Comment | Summary: The protein encoded by this gene catalyzes the post-translational formation of 4-hydroxyproline in hypoxia-inducible factor (HIF) alpha proteins. HIF is a transcriptional complex that plays a central role in mammalian oxygen homeostasis. This protein functions as a cellular oxygen sensor, and under normal oxygen concentration, modification by prolyl hydroxylation is a key regulatory event that targets HIF subunits for proteasomal destruction via the von Hippel-Lindau ubiquitylation complex. Mutations in this gene are associated with erythrocytosis familial type 3 (ECYT3). [provided by RefSeq]. |
| RefSeq | NP_071334.1 |
| CDS | 3157..4437 | Exon (1) | 1..4047 | Exon (2) | 1..4047 | Exon (3) | 4048..4167 | Exon (4) | 4168..4304 | Exon (5) | 4305..4372 | Exon (6) | 4373..7097 |
| Translation | MANDSGGPGGPSPSERDRQYCELCGKMENLLRCSRCRSSFYCCKEHQRQDWKKHKLVCQG
SEGALGHGVGPHQHSGPAPPAAVPPPRAGAREPRKAAARRDNASGDAAKGKVKAKPPADP
AAAASPCRAAAGGQGSAVAAEAEPGKEEPPARSSLFQEKANLYPPSNTPGDALSPGGGLR
PNGQTKPLPALKLALEYIVPCMNKHGICVVDDFLGKETGQQIGDEVRALHDTGKFTDGQL
VSQKSDSSKDIRGDKITWIEGKEPGCETIGLLMSSMDDLIRHCNGKLGSYKINGRTKAMV
ACYPGNGTGYVRHVDNPNGDGRCVTCIYYLNKDWDAKVSGGILRIFPEGKAQFADIEPKF
DRLLFFWSDRRNPHEVQPAYATRYAITVWYFDADERARAKVKYLTGEKGVRVELNKPSDS
VGKDVF
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| Position | Chain | Variation | Link |
| complement(10..11) | - | , t | dbSNP:60464456 |
| complement(14..15) | - | , t | dbSNP:66480538 |
| complement(15..16) | - | , t | dbSNP:111995599 |
| complement(234) | - | g, a | dbSNP:1339894 |
| complement(422) | - | t, c | dbSNP:12094665 |
| complement(556..560) | - | , ataaa | dbSNP:71849861 |
| complement(558) | - | g, a | dbSNP:1361384 |
| complement(565) | - | c, a | dbSNP:1361383 |
| complement(571) | - | g, a | dbSNP:2153364 |
| complement(709) | - | t, g | dbSNP:114449367 |
| complement(828) | - | t, c | dbSNP:71636390 |
| complement(1219) | - | t, a | dbSNP:112414693 |
| complement(1451) | - | g, a | dbSNP:7544596 |
| complement(1548) | - | t, c | dbSNP:41303113 |
| complement(1565) | - | g, a | dbSNP:12406290 |
| complement(1800) | - | g, c | dbSNP:111387099 |
| complement(1830) | - | t, g | dbSNP:113772572 |
| complement(1899) | - | t, a | dbSNP:60445751 |
| complement(1945) | - | t, c | dbSNP:41310557 |
| complement(2458) | - | g, a | dbSNP:111816383 |
| complement(2459) | - | t, c | dbSNP:80010432 |
| complement(2538) | - | g, c | dbSNP:114235192 |
| complement(2626) | - | t, c | dbSNP:113172460 |
| complement(3002) | - | c, a | dbSNP:12049545 |
| complement(3296) | - | t, c | dbSNP:73121547 |
| complement(3443) | - | g, a | dbSNP:113401862 |
| complement(3536) | - | g, c | dbSNP:12097901 |
| complement(3627) | - | g, c | dbSNP:61750991 |
| complement(3731) | - | t, c | dbSNP:75538505 |
| complement(3792) | - | g, a | dbSNP:1057822 |
| 4106 | + | c, g | dbSNP:80358193 |
| 4268 | + | a, g | dbSNP:119476044 |
| 4277 | + | a, g | dbSNP:119476045 |
| complement(4428) | - | g, a | dbSNP:61734647 |
| complement(4580) | - | t, c | dbSNP:55825888 |
| complement(5209) | - | , aaaac | dbSNP:111269755 |
| complement(5426) | - | g, a | dbSNP:7550833 |
| complement(5475..5476) | - | , a | dbSNP:34699489 |
| complement(6233..6234) | - | , t | dbSNP:3215625 |
| complement(6239..6240) | - | , t | dbSNP:66830513 |
| complement(6240..6241) | - | , t | dbSNP:11386615 |
| complement(6317) | - | t, a | dbSNP:13239 |
| complement(6356) | - | g, a | dbSNP:41303095 |
| complement(6498) | - | g, c | dbSNP:116262857 |
| complement(6567) | - | t, g | dbSNP:76895006 |
| complement(6575) | - | t, g | dbSNP:75303047 |
| complement(6637..6638) | - | , t | dbSNP:35245607 |
| 6672 | + | c, g | dbSNP:191867 |
| complement(6719) | - | t, c | dbSNP:113305916 |
| complement(6842) | - | g, a | dbSNP:112836324 |
| complement(7035) | - | t, c | dbSNP:77496832 |
| Gene Symbol | EGLN1 |
| Gene Synonym | C1orf12; DKFZp761F179; ECYT3; HIFPH2; HPH2; PHD2; SM20; ZMYND6 |
| Chromosome | 1 |
| Locus Map | 1q42.1 |
| All Transcripts | NM_022051 |
| Title | Genetic variations in Tibetan populations and high-altitude adaptation at the Himalayas . |
| Author | Peng,Y., Yang,Z., Zhang,H., Cui,C., Qi,X., Luo,X., Tao,X., Wu,T., Ouzhuluobu, Basang, Ciwangsangbu, Danzengduojie, Chen,H., Shi,H. and Su,B. |
| Journal | Mol. Biol. Evol. 28 (2), 1075-1081 (2011) |
| Title | A genome-wide search for signals of high-altitude adaptation in Tibetans . |
| Author | Xu,S., Li,S., Yang,Y., Tan,J., Lou,H., Jin,W., Yang,L., Pan,X., Wang,J., Shen,Y., Wu,B., Wang,H. and Jin,L. |
| Journal | Mol. Biol. Evol. 28 (2), 1003-1011 (2011) |
| Title | Oncometabolite 2-hydroxyglutarate is a competitive inhibitor of alpha-ketoglutarate-dependent dioxygenases . |
| Author | Xu,W., Yang,H., Liu,Y., Yang,Y., Wang,P., Kim,S.H., Ito,S., Yang,C., Wang,P., Xiao,M.T., Liu,L.X., Jiang,W.Q., Liu,J., Zhang,J.Y., Wang,B., Frye,S., Zhang,Y., Xu,Y.H., Lei,Q.Y., Guan,K.L., Zhao,S.M. and Xiong,Y. |
| Journal | Cancer Cell 19 (1), 17-30 (2011) |
| Title | Mutation analysis of HIF prolyl hydroxylases (PHD/EGLN) in individuals with features of phaeochromocytoma and renal cell carcinoma susceptibility . |
| Author | Astuti,D., Ricketts,C.J., Chowdhury,R., McDonough,M.A., Gentle,D., Kirby,G., Schlisio,S., Kenchappa,R.S., Carter,B.D., Kaelin,W.G. Jr., Ratcliffe,P.J., Schofield,C.J., Latif,F. and Maher,E.R. |
| Journal | Endocr. Relat. Cancer 18 (1), 73-83 (2010) |
| Title | von Hippel-Lindau-dependent patterns of RNA polymerase II hydroxylation in human renal clear cell carcinomas . |
| Author | Yi,Y., Mikhaylova,O., Mamedova,A., Bastola,P., Biesiada,J., Alshaikh,E., Levin,L., Sheridan,R.M., Meller,J. and Czyzyk-Krzeska,M.F. |
| Journal | Clin. Cancer Res. 16 (21), 5142-5152 (2010) |
| Title | HIF-1, O(2), and the 3 PHDs: how animal cells signal hypoxia to the nucleus . |
| Author | Semenza,G.L. |
| Journal | Cell 107 (1), 1-3 (2001) |
| Title | Characterization and comparative analysis of the EGLN gene family . |
| Author | Taylor,M.S. |
| Journal | Gene 275 (1), 125-132 (2001) |
| Title | Mapping, characterization, and expression analysis of the SM-20 human homologue, c1orf12, and identification of a novel related gene, SCAND2 . |
| Author | Dupuy,D., Aubert,I., Duperat,V.G., Petit,J., Taine,L., Stef,M., Bloch,B. and Arveiler,B. |
| Journal | Genomics 69 (3), 348-354 (2000) |
| Title | Cloning of ARE-containing genes by AU-motif-directed display . |
| Author | Dominguez,O., Ashhab,Y., Sabater,L., Belloso,E., Caro,P. and Pujol-Borrell,R. |
| Journal | Genomics 54 (2), 278-286 (1998) |
| Title | SM-20 is a novel 40-kd protein whose expression in the arterial wall is restricted to smooth muscle . |
| Author | Wax,S.D., Tsao,L., Lieb,M.E., Fallon,J.T. and Taubman,M.B. |
| Journal | Lab. Invest. 74 (4), 797-808 (1996) |
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