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Homo sapiens ethanolamine kinase 1 (ETNK1), transcript variant 1, mRNA.


RefSeq Accession Definition Services Price Order
NM_018638 Homo sapiens ethanolamine kinase 1 (ETNK1), transcript variant 1, mRNA. ORF Sequence $394.11
Peptide Services
Antibody Services
Protein Services


RefSeq Version NM_018638.4, 87298841
Length 7101 bp
Structure linear
Update Date 17-APR-2013
Organism Homo sapiens (human)
Definition Homo sapiens ethanolamine kinase 1 (ETNK1), transcript variant 1, mRNA.
Product ethanolamine kinase 1 isoform A
Comment

Summary: This gene encodes an ethanolamine kinase, which functions in the first committed step of the phosphatidylethanolamine synthesis pathway. This cytosolic enzyme is specific for ethanolamine and exhibits negligible kinase activity on choline. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008].


Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (A).


##Evidence-Data-START## Transcript exon combination :: BC066907.1, AF207600.2 [ECO:0000332] RNAseq introns :: single sample supports all introns ERS025081, ERS025082 [ECO:0000348] ##Evidence-Data-END## COMPLETENESS: complete on the 3' end.

RefSeq NP_061108.2
CDS 23..1381
Misc Feature(1)434..1129
Misc Feature(2)434..1129
Misc Feature(3)437..1153
Misc Feature(4)order(452..454,458..460,464..469,473..475,515..517,
Misc Feature(5)order(452..454,467..469,473..475,515..517,521..523,
Misc Feature(6)order(458..460,464..466,950..952,956..958,965..967,
Misc Feature(7)order(560..562,569..574,581..586,614..625,749..751)
Exon (1)1..445
Gene:ETNK1
Gene Synonym:EKI; EKI 1; EKI1; Nbla10396
Exon (2)446..705
Gene:ETNK1
Gene Synonym:EKI; EKI 1; EKI1; Nbla10396
Exon (3)706..846
Gene:ETNK1
Gene Synonym:EKI; EKI 1; EKI1; Nbla10396
Exon (4)847..989
Gene:ETNK1
Gene Synonym:EKI; EKI 1; EKI1; Nbla10396
Exon (5)990..1073
Gene:ETNK1
Gene Synonym:EKI; EKI 1; EKI1; Nbla10396
Exon (6)1074..1234
Gene:ETNK1
Gene Synonym:EKI; EKI 1; EKI1; Nbla10396
Exon (7)1235..1308
Gene:ETNK1
Gene Synonym:EKI; EKI 1; EKI1; Nbla10396
Exon (8)1309..7101
Gene:ETNK1
Gene Synonym:EKI; EKI 1; EKI1; Nbla10396
Translation MLCGRPRSSSDNRNFLRERAGLSSAAVQTRIGNSAASRRSPAARPPVPAPPALPRGRPGT EGSTSLSAPAVLVVAVAVVVVVVSAVAWAMANYIHVPPGSPEVPKLNVTVQDQEEHRCRE GALSLLQHLRPHWDPQEVTLQLFTDGITNKLIGCYVGNTMEDVVLVRIYGNKTELLVDRD EEVKSFRVLQAHGCAPQLYCTFNNGLCYEFIQGEALDPKHVCNPAIFRLIARQLAKIHAI HAHNGWIPKSNLWLKMGKYFSLIPTGFADEDINKRFLSDIPSSQILQEEMTWMKEILSNL GSPVVLCHNDLLCKNIIYNEKQGDVQFIDYEYSGYNYLAYDIGNHFNEFAGVSDVDYSLY PDRELQSQWLRAYLEAYKEFKGFGTEVTEKEVEILFIQVNQFALASHFFWGLWALIQAKY STIEFDFLGYAIVRFNQYFKMKPEVTALKVPE
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Position Chain Variation Link
40+a, gdbSNP:199647883
48+g, tdbSNP:201961217
70+c, gdbSNP:200778161
110+c, tdbSNP:150714252
180+c, tdbSNP:201229938
192+g, tdbSNP:202085804
298+c, tdbSNP:75081525
386+g, tdbSNP:149850547
433+a, gdbSNP:114417438
478+dbSNP:
478+c, tdbSNP:200007670
488+a, gdbSNP:150585672
553+c, tdbSNP:117802803
554+a, gdbSNP:147700944
613+a, gdbSNP:199816170
685+c, gdbSNP:201608129
696+a, cdbSNP:201123814
795+dbSNP:
795+a, gdbSNP:190440442
836+a, gdbSNP:142416316
873+dbSNP:
873+a, gdbSNP:75025746
886+a, gdbSNP:4963793
1156+dbSNP:
1156+a, tdbSNP:140394146
1188+, adbSNP:34032941
1302..1303+dbSNP:
1302..1303+, cdbSNP:35869773
1323+dbSNP:
1323+a, gdbSNP:150365004
1355+a, cdbSNP:11548473
1372+a, gdbSNP:138041873
1378+g, tdbSNP:142528168
1408+c, gdbSNP:181367012
1459+g, tdbSNP:12316161
1461+g, tdbSNP:138515741
1575+c, tdbSNP:186999399
1754+a, cdbSNP:141163915
1804+, tdbSNP:34490298
1966+a, tdbSNP:191738259
2099+a, gdbSNP:184027698
2179..2182+, atcadbSNP:72185722
2249+g, tdbSNP:12317915
2529+a, tdbSNP:187364222
2579+a, gdbSNP:201147670
2857+c, tdbSNP:12312458
2964+a, cdbSNP:200138533
3011+a, tdbSNP:11046535
3069..3070+, cdbSNP:141532899
3074+a, gdbSNP:74068270
3178+c, tdbSNP:189725623
3229+c, tdbSNP:2129613
3278..3279+, t, ttdbSNP:5796967
3279..3286+, ttttttttdbSNP:57569708
3279..3280+, ttdbSNP:3983448
3279+, ttttttttdbSNP:72045459
3346+a, gdbSNP:11046536
3351+a, gdbSNP:138002691
3387+a, gdbSNP:113726303
3391+c, tdbSNP:182376718
3477+g, tdbSNP:138138439
3484+g, tdbSNP:1048796
3585+a, gdbSNP:3741784
3638+c, tdbSNP:78491157
3751+a, cdbSNP:149508913
3838+c, tdbSNP:186999182
4011+a, tdbSNP:191819215
4050+c, gdbSNP:596408
4092+c, tdbSNP:140515218
4237+c, tdbSNP:142855454
4288+a, gdbSNP:147436953
4309+c, tdbSNP:148713215
4466+a, tdbSNP:183177623
4475+c, tdbSNP:188649483
4492+a, gdbSNP:142295135
4585+a, cdbSNP:16925296
4600+a, gdbSNP:118156699
4690+a, tdbSNP:1048797
4713+c, tdbSNP:192957454
4797+c, tdbSNP:73082506
4853+a, cdbSNP:73082509
4937+a, gdbSNP:185624904
4971..4972+, gdbSNP:35073632
4980+a, tdbSNP:11541361
5047+a, gdbSNP:151273751
5056+a, gdbSNP:11046537
5140+g, tdbSNP:11046538
5157+a, tdbSNP:139282010
5174+g, tdbSNP:189378449
5181+a, gdbSNP:75654280
5194+a, tdbSNP:76167366
5229+g, tdbSNP:11046539
5237+g, tdbSNP:11046540
5248+a, gdbSNP:79556170
5309+g, tdbSNP:191164600
5470+a, gdbSNP:144306539
5690..5691+, tadbSNP:146646684
5767+a, gdbSNP:146597393
5857+a, cdbSNP:183624495
6052+a, gdbSNP:141362576
6271+a, gdbSNP:16925301
6500..6501+, tgdbSNP:200385491
6577+c, tdbSNP:188379423
6626+c, gdbSNP:181259203
6633..6634+, adbSNP:34050861
6677+c, gdbSNP:143246609
6700+a, cdbSNP:9435
7000+c, tdbSNP:115590851
Gene SymbolETNK1
Gene SynonymEKI; EKI 1; EKI1; Nbla10396
Chromosome12
Locus Map12p12.1
All Transcripts
RefSeq Accession Definition Sequence Price Select
NM_001039481 Homo sapiens ethanolamine kinase 1 (ETNK1), transcript variant 2, mRNA. Full Length $263.90
ORF Sequence $225.33
NM_018638 Homo sapiens ethanolamine kinase 1 (ETNK1), transcript variant 1, mRNA. Full Length $3195.45
ORF Sequence $394.11
Title Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study .
Author Bailey,S.D., Xie,C., Do,R., Montpetit,A., Diaz,R., Mohan,V., Keavney,B., Yusuf,S., Gerstein,H.C., Engert,J.C. and Anand,S.
Journal Diabetes Care 33 (10), 2250-2253 (2010)
Title Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip .
Author Talmud,P.J., Drenos,F., Shah,S., Shah,T., Palmen,J., Verzilli,C., Gaunt,T.R., Pallas,J., Lovering,R., Li,K., Casas,J.P., Sofat,R., Kumari,M., Rodriguez,S., Johnson,T., Newhouse,S.J., Dominiczak,A., Samani,N.J., Caulfield,M., Sever,P., Stanton,A., Shields,D.C., Padmanabhan,S., Melander,O., Hastie,C., Delles,C., Ebrahim,S., Marmot,M.G., Smith,G.D., Lawlor,D.A., Munroe,P.B., Day,I.N., Kivimaki,M., Whittaker,J., Humphries,S.E. and Hingorani,A.D.
Journal Am. J. Hum. Genet. 85 (5), 628-642 (2009)
Title Coamplification of DAD-R, SOX5, and EKI1 in human testicular seminomas, with specific overexpression of DAD-R, correlates with reduced levels of apoptosis and earlier clinical manifestation .
Author Zafarana,G., Gillis,A.J., van Gurp,R.J., Olsson,P.G., Elstrodt,F., Stoop,H., Millan,J.L., Oosterhuis,J.W. and Looijenga,L.H.
Journal Cancer Res. 62 (6), 1822-1831 (2002)
Title Overexpression of a mammalian ethanolamine-specific kinase accelerates the CDP-ethanolamine pathway .
Author Lykidis,A., Wang,J., Karim,M.A. and Jackowski,S.
Journal J. Biol. Chem. 276 (3), 2174-2179 (2001)

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