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Sequence in raw or FASTA format:

Database:

Blast Method:

 
 


Homo sapiens egl-9 family hypoxia-inducible factor 1 (EGLN1), mRNA.


Clone ID Definition Vector Stock Status Price *Turnaround time Order
OHu35043 Homo sapiens egl-9 family hypoxia-inducible factor 1 (EGLN1), mRNA. pcDNA3.1+-DYK In-stock $99.00 TBD
OHu35043C Homo sapiens egl-9 family hypoxia-inducible factor 1 (EGLN1), mRNA. Customized vector In-stock $149.00 TBD

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Mutation services

Sequence Information ORF Nucleotide Sequence
Protein sequence
Vector pcDNA3.1+-DYK or customized vector
Clone information Data sheet
Tag on pcDNA3.1+-DYK N terminal DYKDDDK tags
Restriction Sites Hind III- EcoR I
RefSeq Version NM_022051.2, 237649101
Length 1281 bp
Structure linear
Update Date 10-MAY-2014
Organism Homo sapiens (human)
Definition Homo sapiens egl-9 family hypoxia-inducible factor 1 (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)3160..3162
Misc Feature(3)3160..3162
Misc Feature(4)3172..3216
Misc Feature(5)3217..3330
Misc Feature(6)3529..3531
Misc Feature(7)3757..3759
Misc Feature(8)3778..3780
Misc Feature(9)3814..4329
Misc Feature(10)3877..3909
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(10..11)-dbSNP:
complement(10..11)-, tdbSNP:397803034
complement(15..16)-, tdbSNP:111995599
complement(107)-c, adbSNP:369610366
complement(160)-t, cdbSNP:183970490
complement(234)-g, adbSNP:1339894
complement(329)-t, cdbSNP:180851300
complement(422)-t, cdbSNP:12094665
complement(448)-g, adbSNP:373140957
complement(461)-t, cdbSNP:147783454
complement(543)-g, adbSNP:190531118
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
788+a, gdbSNP:149120358
complement(812)-g, cdbSNP:145066596
complement(828)-t, cdbSNP:71636390
complement(909)-c, adbSNP:372348941
complement(954)-g, adbSNP:184200552
complement(1158)-g, cdbSNP:368402713
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(1567)-g, adbSNP:368110035
complement(1581)-t, cdbSNP:373684198
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(1933)-t, gdbSNP:374347516
complement(1945)-t, cdbSNP:41310557
complement(2064)-t, gdbSNP:368061513
complement(2106)-g, cdbSNP:139265156
complement(2178)-g, cdbSNP:187007708
complement(2229)-t, adbSNP:182333595
complement(2320)-t, cdbSNP:375381135
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(3357)-g, adbSNP:377685277
complement(3383)-c, adbSNP:367712964
complement(3443)-g, adbSNP:113401862
complement(3536)-g, cdbSNP:12097901
complement(3601)-t, gdbSNP:374893731
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(3790)-t, cdbSNP:376247953
complement(3792)-g, adbSNP:1057822
complement(3798)-g, adbSNP:145743493
complement(3849)-g, adbSNP:373054624
complement(3874)-g, adbSNP:369251331
complement(3894)-t, gdbSNP:376001204
complement(3927)-g, adbSNP:139707934
complement(3948)-g, adbSNP:200166023
complement(3969)-t, cdbSNP:201220243
complement(3987)-g, adbSNP:369149201
complement(3988)-t, cdbSNP:371536347
complement(3999)-g, adbSNP:143108243
complement(4080)-dbSNP:
complement(4080)-t, cdbSNP:201523464
complement(4106)-g, cdbSNP:80358193
complement(4131)-t, cdbSNP:374733352
complement(4176)-dbSNP:
complement(4176)-t, adbSNP:368903308
complement(4222)-t, cdbSNP:376342020
complement(4232)-t, cdbSNP:146367075
4268+a, gdbSNP:119476044
complement(4269)-g, adbSNP:143991968
4277+a, gdbSNP: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(4485)-t, cdbSNP:369952046
complement(4580)-t, cdbSNP:55825888
complement(4749)-t, cdbSNP:183940450
complement(4824)-t, cdbSNP:192117490
complement(4889)-t, cdbSNP:186972462
complement(4891..4892)-, cdbSNP:373302655
complement(4931)-t, cdbSNP:144067360
complement(5012)-t, adbSNP:373743992
complement(5034)-g, cdbSNP:370227263
complement(5059)-t, cdbSNP:183632912
complement(5076..5077)-, adbSNP:200787148
complement(5085)-, adbSNP:149920332
complement(5100)-g, adbSNP:375652885
complement(5137)-t, cdbSNP:146191273
complement(5200)-t, cdbSNP:190383315
complement(5285)-g, adbSNP:185618019
complement(5340)-t, gdbSNP:181172492
complement(5377)-t, cdbSNP:373111284
complement(5426)-g, adbSNP:7550833
complement(5475..5476)-, adbSNP:34699489
complement(5541)-g, adbSNP:188357088
complement(5561)-g, adbSNP:374107175
complement(5636)-t, cdbSNP:185930120
complement(5869..5871)-, gaadbSNP:376965249
complement(5871..5873)-, aagdbSNP:201012894
complement(5954)-g, adbSNP:368862498
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:11386615
complement(6288)-g, cdbSNP:368824788
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(6637..6638)-, tdbSNP:35245607
complement(6672)-g, cdbSNP:191867
complement(6709)-t, cdbSNP:367869687
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-9 family hypoxia-inducible factor 1 (EGLN1), mRNA. In-stock $99.00 TBD
XM_006711782 PREDICTED: Homo sapiens egl-9 family hypoxia-inducible factor 1 (EGLN1), transcript variant X3, mRNA. On-demand TBD TBD
XM_005273166 PREDICTED: Homo sapiens egl-9 family hypoxia-inducible factor 1 (EGLN1), transcript variant X1, mRNA. On-demand TBD TBD
XM_005273167 PREDICTED: Homo sapiens egl-9 family hypoxia-inducible factor 1 (EGLN1), transcript variant X2, mRNA. On-demand TBD TBD
Title A knock-in mouse model of human PHD2 gene-associated erythrocytosis establishes a haploinsufficiency mechanism .
Author Arsenault PR, Pei F, Lee R, Kerestes H, Percy MJ, Keith B, Simon MC, Lappin TR, Khurana TS and Lee FS.
Journal J. Biol. Chem. 288 (47), 33571-33584 (2013)
Title Substrate preference of the HIF-prolyl hydroxylase-2 (PHD2) and substrate-induced conformational change .
Author Pektas S and Knapp MJ.
Journal J. Inorg. Biochem. 126, 55-60 (2013)
Title Identification of a Tibetan-specific mutation in the hypoxic gene EGLN1 and its contribution to high-altitude adaptation .
Author Xiang K, Ouzhuluobu, Peng Y, Yang Z, Zhang X, Cui C, Zhang H, Li M, Zhang Y, Bianba, Gonggalanzi, Basang, Ciwangsangbu, Wu T, Chen H, Shi H, Qi X and Su B.
Journal Mol. Biol. Evol. 30 (8), 1889-1898 (2013)
Title A mechanism for induction of a hypoxic response by vaccinia virus .
Author Mazzon M, Peters NE, Loenarz C, Krysztofinska EM, Ember SW, Ferguson BJ and Smith GL.
Journal Proc. Natl. Acad. Sci. U.S.A. 110 (30), 12444-12449 (2013)
Title Prolyl hydroxylase domain protein 2 silencing enhances the survival and paracrine function of transplanted adipose-derived stem cells in infarcted myocardium .
Author Wang WE, Yang D, Li L, Wang W, Peng Y, Chen C, Chen P, Xia X, Wang H, Jiang J, Liao Q, Li Y, Xie G, Huang H, Guo Y, Ye L, Duan DD, Chen X, Houser SR and Zeng C.
Journal Circ. Res. 113 (3), 288-300 (2013)
Title HIF-1, O(2), and the 3 PHDs: how animal cells signal hypoxia to the nucleus .
Author Semenza GL.
Journal Cell 107 (1), 1-3 (2001)
Title Characterization and comparative analysis of the EGLN gene family .
Author Taylor MS.
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 VG, 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 SD, Tsao L, Lieb ME, Fallon JT and Taubman MB.
Journal Lab. Invest. 74 (4), 797-808 (1996)

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