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Homo sapiens egl nine homolog 1 (C. elegans) (EGLN1), mRNA.


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_022051 Homo sapiens egl nine homolog 1 (C. elegans) (EGLN1), mRNA. GenEZ ORF Cloning In-stock $509.00 $460.00 TBD

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RefSeq Version NM_022051.2, 237649101
Length 7102 bp
Structure linear
Update Date 20-APR-2013
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, Nov 2009].

RefSeq NP_071334.1
CDS 3157..4437
Misc Feature(1)3031..3033
Misc Feature(2)3172..3216
Misc Feature(3)3172..3216
Misc Feature(4)3217..3330
Misc Feature(5)3529..3531
Misc Feature(6)3757..3759
Misc Feature(7)3778..3780
Misc Feature(8)3814..4329
Misc Feature(9)3877..3909
Misc Feature(10)4048..4329
Misc Feature(11)4060..4062
Misc Feature(12)4123..4125
Misc Feature(13)4132..4134
Exon (1)1..4047
Gene:EGLN1
Gene Synonym:C1orf12; ECYT3; HIF-PH2; HIFPH2; HPH-2; HPH2; PHD2; SM20; ZMYND6
Exon (2)4048..4167
Gene:EGLN1
Gene Synonym:C1orf12; ECYT3; HIF-PH2; HIFPH2; HPH-2; HPH2; PHD2; SM20; ZMYND6
Exon (3)4168..4304
Gene:EGLN1
Gene Synonym:C1orf12; ECYT3; HIF-PH2; HIFPH2; HPH-2; HPH2; PHD2; SM20; ZMYND6
Exon (4)4305..4372
Gene:EGLN1
Gene Synonym:C1orf12; ECYT3; HIF-PH2; HIFPH2; HPH-2; HPH2; PHD2; SM20; ZMYND6
Exon (5)4373..7097
Gene:EGLN1
Gene Synonym:C1orf12; ECYT3; HIF-PH2; HIFPH2; HPH-2; HPH2; PHD2; SM20; ZMYND6
Translation MANDSGGPGGPSPSERDRQYCELCGKMENLLRCSRCRSSFYCCKEHQRQDWKKHKLVCQG SEGALGHGVGPHQHSGPAPPAAVPPPRAGAREPRKAAARRDNASGDAAKGKVKAKPPADP AAAASPCRAAAGGQGSAVAAEAEPGKEEPPARSSLFQEKANLYPPSNTPGDALSPGGGLR PNGQTKPLPALKLALEYIVPCMNKHGICVVDDFLGKETGQQIGDEVRALHDTGKFTDGQL VSQKSDSSKDIRGDKITWIEGKEPGCETIGLLMSSMDDLIRHCNGKLGSYKINGRTKAMV ACYPGNGTGYVRHVDNPNGDGRCVTCIYYLNKDWDAKVSGGILRIFPEGKAQFADIEPKF DRLLFFWSDRRNPHEVQPAYATRYAITVWYFDADERARAKVKYLTGEKGVRVELNKPSDS VGKDVF
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Position Chain Variation Link
complement(14..15)-dbSNP:
complement(14..15)-, tdbSNP:60464456
complement(16..17)-, tdbSNP:111995599
complement(160)-t, cdbSNP:183970490
complement(234)-g, adbSNP:1339894
complement(329)-t, cdbSNP:180851300
complement(422)-t, cdbSNP:12094665
complement(461)-t, cdbSNP:147783454
complement(543)-g, adbSNP:190531118
complement(556..560)-, ataaadbSNP:71849861
complement(558)-g, adbSNP:1361384
complement(565)-c, adbSNP:1361383
complement(571)-g, adbSNP:2153364
complement(589)-c, adbSNP:185603039
complement(590)-g, adbSNP:193048016
complement(707)-c, adbSNP:143021749
complement(709)-t, gdbSNP:114449367
complement(738)-g, cdbSNP:188721782
complement(788)-g, adbSNP:149120358
complement(812)-g, cdbSNP:145066596
complement(828)-t, cdbSNP:71636390
complement(954)-g, adbSNP:184200552
complement(1219)-t, adbSNP:112414693
complement(1451)-g, adbSNP:7544596
complement(1461)-t, cdbSNP:191690250
complement(1525..1526)-, ctdbSNP:145140638
complement(1548)-t, cdbSNP:41303113
complement(1565)-g, adbSNP:12406290
complement(1800)-g, cdbSNP:111387099
complement(1830)-t, gdbSNP:113772572
complement(1899)-t, adbSNP:60445751
complement(1901..1907)-, atggtaadbSNP:200197385
complement(1928)-c, adbSNP:149936012
complement(1945)-t, cdbSNP:41310557
complement(2106)-g, cdbSNP:139265156
complement(2178)-g, cdbSNP:187007708
complement(2229)-t, adbSNP:182333595
complement(2339)-c, adbSNP:146578729
complement(2371)-t, cdbSNP:190966487
complement(2458)-g, adbSNP:111816383
complement(2459)-t, cdbSNP:80010432
complement(2538)-g, cdbSNP:114235192
complement(2613)-g, adbSNP:188879504
complement(2621)-g, adbSNP:184124593
complement(2626)-t, g, cdbSNP:113172460
complement(3002)-c, adbSNP:12049545
complement(3168)-g, cdbSNP:186996510
complement(3296)-t, cdbSNP:73121547
complement(3443)-g, adbSNP:113401862
complement(3536)-g, cdbSNP:12097901
complement(3627)-g, cdbSNP:61750991
complement(3649)-g, cdbSNP:200502960
complement(3714)-g, cdbSNP:201365992
complement(3731)-t, cdbSNP:75538505
complement(3768)-t, cdbSNP:144363716
complement(3774)-t, gdbSNP:200220557
complement(3792)-g, adbSNP:1057822
complement(3798)-g, adbSNP:145743493
complement(3927)-g, adbSNP:139707934
complement(3948)-g, adbSNP:200166023
complement(3969)-t, cdbSNP:201220243
complement(3999)-g, adbSNP:143108243
complement(4080)-dbSNP:
complement(4080)-t, cdbSNP:201523464
4106+c, gdbSNP:80358193
complement(4232)-dbSNP:
complement(4232)-t, cdbSNP:146367075
complement(4268)-g, adbSNP:119476044
complement(4269)-g, adbSNP:143991968
complement(4277)-g, adbSNP:119476045
complement(4358)-dbSNP:
complement(4358)-c, adbSNP:149479360
complement(4384)-dbSNP:
complement(4384)-c, adbSNP:137949094
complement(4415)-g, adbSNP:147839743
complement(4416)-t, cdbSNP:149179666
complement(4428)-g, adbSNP:61734647
complement(4458)-g, cdbSNP:199612416
complement(4466)-t, cdbSNP:200402260
complement(4580)-t, cdbSNP:55825888
complement(4749)-t, cdbSNP:183940450
complement(4824)-t, cdbSNP:192117490
complement(4889)-t, cdbSNP:186972462
complement(4931)-t, cdbSNP:144067360
complement(5059)-t, cdbSNP:183632912
complement(5076..5077)-, adbSNP:200787148
complement(5085)-, adbSNP:149920332
complement(5137)-t, cdbSNP:146191273
complement(5200)-t, cdbSNP:190383315
complement(5209)-, aaaacdbSNP:111269755
complement(5285)-g, adbSNP:185618019
complement(5340)-t, gdbSNP:181172492
complement(5426)-g, adbSNP:7550833
complement(5476..5477)-, adbSNP:34699489
complement(5541)-g, adbSNP:188357088
complement(5636)-t, cdbSNP:185930120
complement(5871..5873)-, aagdbSNP:201012894
complement(6045)-g, cdbSNP:182146084
complement(6217)-t, cdbSNP:190617118
complement(6224)-c, adbSNP:143135847
complement(6233..6234)-, t, cdbSNP:3215625
complement(6239..6240)-, tdbSNP:66830513
complement(6240..6241)-, tdbSNP:11386615
complement(6317)-t, adbSNP:13239
complement(6327)-g, cdbSNP:139634340
complement(6356)-g, adbSNP:41303095
complement(6402)-t, cdbSNP:185322052
complement(6480)-g, adbSNP:193073371
complement(6482)-g, adbSNP:150577852
complement(6498)-g, cdbSNP:116262857
complement(6533)-g, adbSNP:141735901
complement(6558..6561)-, caaadbSNP:143718156
complement(6567)-t, gdbSNP:201470690
complement(6641..6642)-, tdbSNP:35245607
complement(6672)-g, cdbSNP:191867
complement(6719)-t, cdbSNP:113305916
complement(6842)-g, adbSNP:112836324
complement(6946)-g, adbSNP:188644101
complement(7035)-t, cdbSNP:77496832
Gene SymbolEGLN1
Gene SynonymC1orf12; ECYT3; HIF-PH2; HIFPH2; HPH-2; HPH2; PHD2; SM20; ZMYND6
Chromosome1
Locus Map1q42.1
All Transcripts
RefSeq Accession Definition Stock Status Price Turnaround time Business Day Select
NM_022051 Homo sapiens egl nine homolog 1 (C. elegans) (EGLN1), mRNA. In-stock $509.00 $460.00 TBD
Title EGLN1 variants influence expression and SaO2 levels to associate with high-altitude pulmonary oedema and adaptation .
Author Mishra,A., Mohammad,G., Thinlas,T. and Pasha,M.A.
Journal Clin. Sci. 124 (7), 479-489 (2013)
Title Prolyl hydroxylase domain protein 2 regulates the intracellular cyclic AMP level in cardiomyocytes through its interaction with phosphodiesterase 4D .
Author Huo,Z., Ye,J.C., Chen,J., Lin,X., Zhou,Z.N., Xu,X.R., Li,C.M., Qi,M., Liang,D., Liu,Y. and Li,J.
Journal Biochem. Biophys. Res. Commun. 427 (1), 73-79 (2012)
Title GNAS1 and PHD2 short-interfering RNA support bone regeneration in vitro and in an in vivo sheep model .
Author Rios,C.N., Skoracki,R.J. and Mathur,A.B.
Journal Clin. Orthop. Relat. Res. 470 (9), 2541-2553 (2012)
Title Low expression of prolyl hydroxylase 2 is associated with tumor grade and poor prognosis in patients with colorectal cancer .
Author Xie,G., Zheng,L., Ou,J., Huang,H., He,J., Li,J., Pan,F. and Liang,H.
Journal Exp. Biol. Med. (Maywood) 237 (7), 860-866 (2012)
Title Thermal unfolding pathway of PHD2 catalytic domain in three different PHD2 species: computational approaches .
Author Hadi-Alijanvand,H., Proctor,E.A., Goliaei,B., Dokholyan,N.V. and Moosavi-Movahedi,A.A.
Journal PLoS ONE 7 (10), E47061 (2012)
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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