• THAT   AND
  • THAT   AND


Sequence in raw or FASTA format:

Database:

Blast Method:

 
 


Homo sapiens pyruvate kinase, liver and RBC (PKLR), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_181871 Homo sapiens pyruvate kinase, liver and RBC (PKLR), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA. GenEZ ORF Cloning On-demand $699.00 18

*Business Day

Related Services

RefSeq Version NM_181871.3, 189095250
Length 3035 bp
Structure linear
Update Date 17-APR-2013
Organism Homo sapiens (human)
Definition Homo sapiens pyruvate kinase, liver and RBC (PKLR), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.
Product pyruvate kinase isozymes R/L isoform 2
Comment

Summary: The protein encoded by this gene is a pyruvate kinase that catalyzes the transphosphorylation of phohsphoenolpyruvate into pyruvate and ATP, which is the rate-limiting step of glycolysis. Defects in this enzyme, due to gene mutations or genetic variations, are the common cause of chronic hereditary nonspherocytic hemolytic anemia (CNSHA or HNSHA). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008].


Transcript Variant: This variant (2) uses an alternate 5' exon, as compared to variant 1. The resulting isoform (2) has a distinct and shorter N-terminus, as compared to isoform 1. Isoform 2 is also known as type L.


Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The extent of this transcript is supported by transcript alignments.

RefSeq NP_870986.1
CDS 115..1746
Misc Feature(1)22..24
Misc Feature(2)22..24
Misc Feature(3)274..1740
Misc Feature(4)274..1740
Misc Feature(5)277..1731
Misc Feature(6)order(280..285,469..471,475..477,499..510,775..780,
Misc Feature(7)order(367..369,373..375,487..489,880..882,958..960,
Misc Feature(8)1687..1689
Exon (1)1..121
Gene:PKLR
Gene Synonym:PK1; PKL; PKR; PKRL; RPK
Exon (2)122..304
Gene:PKLR
Gene Synonym:PK1; PKL; PKR; PKRL; RPK
Exon (3)305..396
Gene:PKLR
Gene Synonym:PK1; PKL; PKR; PKRL; RPK
Exon (4)397..528
Gene:PKLR
Gene Synonym:PK1; PKL; PKR; PKRL; RPK
Exon (5)529..715
Gene:PKLR
Gene Synonym:PK1; PKL; PKR; PKRL; RPK
Exon (6)716..986
Gene:PKLR
Gene Synonym:PK1; PKL; PKR; PKRL; RPK
Exon (7)987..1137
Gene:PKLR
Gene Synonym:PK1; PKL; PKR; PKRL; RPK
Exon (8)1138..1290
Gene:PKLR
Gene Synonym:PK1; PKL; PKR; PKRL; RPK
Exon (9)1291..1457
Gene:PKLR
Gene Synonym:PK1; PKL; PKR; PKRL; RPK
Exon (10)1458..1639
Gene:PKLR
Gene Synonym:PK1; PKL; PKR; PKRL; RPK
Exon (11)1640..3025
Gene:PKLR
Gene Synonym:PK1; PKL; PKR; PKRL; RPK
Translation MEGPAGYLRRASVAQLTQELGTAFFQQQQLPAAMADTFLEHLCLLDIDSEPVAARSTSII ATIGPASRSVERLKEMIKAGMNIARLNFSHGSHEYHAESIANVREAVESFAGSPLSYRPV AIALDTKGPEIRTGILQGGPESEVELVKGSQVLVTVDPAFRTRGNANTVWVDYPNIVRVV PVGGRIYIDDGLISLVVQKIGPEGLVTQVENGGVLGSRKGVNLPGAQVDLPGLSEQDVRD LRFGVEHGVDIVFASFVRKASDVAAVRAALGPEGHGIKIISKIENHEGVKRFDEILEVSD GIMVARGDLGIEIPAEKVFLAQKMMIGRCNLAGKPVVCATQMLESMITKPRPTRAETSDV ANAVLDGADCIMLSGETAKGNFPVEAVKMQHAIAREAEAAVYHRQLFEELRRAAPLSRDP TEVTAIGAVEAAFKCCAAAIIVLTTTGRSAQLLSRYRPRAAVIAVTRSAQAARQVHLCRG VFPLLYREPPEAIWADDVDRRVQFGIESGKLRGFLRVGDLVIVVTGWRPGSGYTNIMRVL SIS
Order your protein of interest with our Guaranteed or It's Free Service now! For details, please click here.
Position Chain Variation Link
complement(79)-g, adbSNP:137996782
complement(129)-dbSNP:
complement(129)-t, cdbSNP:148376707
complement(131)-g, adbSNP:118204087
complement(132)-c, adbSNP:141341788
complement(192)-t, cdbSNP:200581879
complement(202)-t, cdbSNP:8177962
complement(238)-g, adbSNP:200791251
complement(239)-t, adbSNP:140571200
complement(261)-g, adbSNP:185441545
complement(262)-t, cdbSNP:139707114
complement(265)-g, cdbSNP:151005140
complement(303)-g, adbSNP:147391950
complement(316)-dbSNP:
complement(316)-g, adbSNP:148636159
complement(322)-c, adbSNP:143984223
complement(410)-dbSNP:
complement(410)-c, adbSNP:118204089
complement(501)-t, cdbSNP:146187567
complement(508)-t, cdbSNP:118204083
complement(526)-c, adbSNP:199824528
complement(528)-t, cdbSNP:201674983
complement(550)-dbSNP:
complement(550)-g, adbSNP:138482544
complement(647)-t, cdbSNP:200480300
complement(659)-g, adbSNP:200979497
complement(677)-g, adbSNP:200572803
complement(742)-dbSNP:
complement(742)-c, adbSNP:201953584
complement(799)-t, cdbSNP:140575553
complement(807)-g, adbSNP:148319141
complement(811)-g, adbSNP:199959447
complement(826)-c, adbSNP:200695047
complement(835)-g, cdbSNP:147659527
complement(839)-t, cdbSNP:141393570
complement(850)-t, cdbSNP:147689373
complement(879)-t, gdbSNP:150532071
complement(910)-g, cdbSNP:148435198
complement(928)-g, cdbSNP:201979697
complement(930)-g, cdbSNP:200840994
complement(939)-t, gdbSNP:141571402
complement(993)-dbSNP:
complement(993)-t, cdbSNP:8177974
complement(1014)-g, adbSNP:138476691
complement(1096)-g, adbSNP:138871700
complement(1165)-dbSNP:
complement(1165)-g, adbSNP:140964046
complement(1172)-t, cdbSNP:74315362
complement(1180)-t, cdbSNP:147089210
complement(1189)-t, cdbSNP:147034239
complement(1191)-g, adbSNP:141596564
complement(1282)-c, adbSNP:118204084
complement(1324)-dbSNP:
complement(1324)-g, adbSNP:142238268
complement(1366)-g, adbSNP:189360283
complement(1367)-t, cdbSNP:149932430
complement(1386)-g, adbSNP:146708702
complement(1400)-g, adbSNP:149946271
complement(1456)-g, adbSNP:201406712
complement(1457)-g, adbSNP:118204085
complement(1477)-dbSNP:
complement(1477)-g, adbSNP:116100695
complement(1489)-g, adbSNP:200133000
complement(1505)-g, adbSNP:141560532
complement(1532)-c, adbSNP:185753709
complement(1537)-g, adbSNP:8177988
complement(1542)-g, adbSNP:201011399
complement(1550)-t, cdbSNP:113403872
complement(1573)-g, adbSNP:139002629
complement(1615)-g, adbSNP:201255024
complement(1620)-c, adbSNP:192697407
complement(1635)-t, adbSNP:201217064
complement(1666)-dbSNP:
complement(1666)-t, cdbSNP:190966689
complement(1707)-g, adbSNP:140859641
complement(1726)-c, adbSNP:1052176
complement(1727)-t, cdbSNP:61755431
complement(1759)-t, cdbSNP:1052177
complement(1760)-t, cdbSNP:8177994
complement(1827)-g, adbSNP:186058494
complement(1955..1956)-, cdbSNP:35957800
complement(2013)-t, cdbSNP:932972
complement(2211)-g, cdbSNP:8177995
complement(2481)-t, cdbSNP:180944719
complement(2639)-c, adbSNP:41264939
complement(2786)-g, adbSNP:8847
complement(2895)-g, adbSNP:185729762
Gene SymbolPKLR
Gene SynonymPK1; PKL; PKR; PKRL; RPK
Chromosome1
Locus Map1q21
All Transcripts
RefSeq Accession Definition Stock Status Price Turnaround time Business Day Select
NM_000298 Homo sapiens pyruvate kinase, liver and RBC (PKLR), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. On-demand $849.00 20
NM_181871 Homo sapiens pyruvate kinase, liver and RBC (PKLR), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA. On-demand $699.00 18
Title Energetic coupling between an oxidizable cysteine and the phosphorylatable N-terminus of human liver pyruvate kinase .
Author Holyoak,T., Zhang,B., Deng,J., Tang,Q., Prasannan,C.B. and Fenton,A.W.
Journal Biochemistry 52 (3), 466-476 (2013)
Title SARS-CoV nucleocapsid protein interacts with cellular pyruvate kinase protein and inhibits its activity .
Author Wei,W.Y., Li,H.C., Chen,C.Y., Yang,C.H., Lee,S.K., Wang,C.W., Ma,H.C., Juang,Y.L. and Lo,S.Y.
Journal Arch. Virol. 157 (4), 635-645 (2012)
Title Genetic diversity in human erythrocyte pyruvate kinase .
Author Berghout,J., Higgins,S., Loucoubar,C., Sakuntabhai,A., Kain,K.C. and Gros,P.
Journal Genes Immun. 13 (1), 98-102 (2012)
Title Pyruvate kinase deficiency in sub-Saharan Africa: identification of a highly frequent missense mutation (G829A;Glu277Lys) and association with malaria .
Author Machado,P., Manco,L., Gomes,C., Mendes,C., Fernandes,N., Salome,G., Sitoe,L., Chibute,S., Langa,J., Ribeiro,L., Miranda,J., Cano,J., Pinto,J., Amorim,A., do Rosario,V.E. and Arez,A.P.
Journal PLoS ONE 7 (10), E47071 (2012)
Title Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma .
Author Chambers,J.C., Zhang,W., Sehmi,J., Li,X., Wass,M.N., Van der Harst,P., Holm,H., Sanna,S., Kavousi,M., Baumeister,S.E., Coin,L.J., Deng,G., Gieger,C., Heard-Costa,N.L., Hottenga,J.J., Kuhnel,B., Kumar,V., Lagou,V., Liang,L., Luan,J., Vidal,P.M., Mateo Leach,I., O'Reilly,P.F., Peden,J.F., Rahmioglu,N., Soininen,P., Speliotes,E.K., Yuan,X., Thorleifsson,G., Alizadeh,B.Z., Atwood,L.D., Borecki,I.B., Brown,M.J., Charoen,P., Cucca,F., Das,D., de Geus,E.J., Dixon,A.L., Doring,A., Ehret,G., Eyjolfsson,G.I., Farrall,M., Forouhi,N.G., Friedrich,N., Goessling,W., Gudbjartsson,D.F., Harris,T.B., Hartikainen,A.L., Heath,S., Hirschfield,G.M., Hofman,A., Homuth,G., Hypponen,E., Janssen,H.L., Johnson,T., Kangas,A.J., Kema,I.P., Kuhn,J.P., Lai,S., Lathrop,M., Lerch,M.M., Li,Y., Liang,T.J., Lin,J.P., Loos,R.J., Martin,N.G., Moffatt,M.F., Montgomery,G.W., Munroe,P.B., Musunuru,K., Nakamura,Y., O'Donnell,C.J., Olafsson,I., Penninx,B.W., Pouta,A., Prins,B.P., Prokopenko,I., Puls,R., Ruokonen,A., Savolainen,M.J., Schlessinger,D., Schouten,J.N., Seedorf,U., Sen-Chowdhry,S., Siminovitch,K.A., Smit,J.H., Spector,T.D., Tan,W., Teslovich,T.M., Tukiainen,T., Uitterlinden,A.G., Van der Klauw,M.M., Vasan,R.S., Wallace,C., Wallaschofski,H., Wichmann,H.E., Willemsen,G., Wurtz,P., Xu,C., Yerges-Armstrong,L.M., Abecasis,G.R., Ahmadi,K.R., Boomsma,D.I., Caulfield,M., Cookson,W.O., van Duijn,C.M., Froguel,P., Matsuda,K., McCarthy,M.I., Meisinger,C., Mooser,V., Pietilainen,K.H., Schumann,G., Snieder,H., Sternberg,M.J., Stolk,R.P., Thomas,H.C., Thorsteinsdottir,U., Uda,M., Waeber,G., Wareham,N.J., Waterworth,D.M., Watkins,H., Whitfield,J.B., Witteman,J.C., Wolffenbuttel,B.H., Fox,C.S., Ala-Korpela,M., Stefansson,K., Vollenweider,P., Volzke,H., Schadt,E.E., Scott,J., Jarvelin,M.R., Elliott,P. and Kooner,J.S.
Journal Nat. Genet. 43 (11), 1131-1138 (2011)
Title Pyruvate kinase deficiency: the genotype-phenotype association .
Author Zanella,A., Fermo,E., Bianchi,P., Chiarelli,L.R. and Valentini,G.
Journal Blood Rev. 21 (4), 217-231 (2007)
Title Structural analysis of human pyruvate kinase L-gene and identification of the promoter activity in erythroid cells .
Author Kanno,H., Fujii,H. and Miwa,S.
Journal Biochem. Biophys. Res. Commun. 188 (2), 516-523 (1992)
Title Treatment of Haemophilus aphrophilus endocarditis with ciprofloxacin .
Author Dawson,S.J. and White,L.A.
Journal J. Infect. 24 (3), 317-320 (1992)
Title Identical point mutations of the R-type pyruvate kinase (PK) cDNA found in unrelated PK variants associated with hereditary hemolytic anemia .
Author Kanno,H., Fujii,H., Hirono,A., Omine,M. and Miwa,S.
Journal Blood 79 (5), 1347-1350 (1992)
Title cDNA cloning of human R-type pyruvate kinase and identification of a single amino acid substitution (Thr384----Met) affecting enzymatic stability in a pyruvate kinase variant (PK Tokyo) associated with hereditary hemolytic anemia .
Author Kanno,H., Fujii,H., Hirono,A. and Miwa,S.
Journal Proc. Natl. Acad. Sci. U.S.A. 88 (18), 8218-8221 (1991)


Our customer service representatives are available 24 hours a day, Monday through Friday; please contact us anytime for assistance.

Learn more about the GenEZ ORF Cloning Service.