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Homo sapiens pyruvate kinase, liver and RBC (PKLR), transcript variant 2, mRNA.


Clone ID Definition Vector Stock Status Price *Turnaround time Order
OHu27268 Homo sapiens pyruvate kinase, liver and RBC (PKLR), transcript variant 2, mRNA. pcDNA3.1+-DYK On-demand $219.00 7-9
OHu27268C Homo sapiens pyruvate kinase, liver and RBC (PKLR), transcript variant 2, mRNA. Customized vector On-demand $269.00 7-9

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Sequence Information ORF Nucleotide Sequence
Protein sequence
Vector pcDNA3.1+-DYK or customized vector
Clone information Clone Map
Tag on pcDNA3.1+-DYK N terminal DYKDDDK tags
ORF Insert Method CloneEZ® Seamless cloning technology
RefSeq Version NM_181871.3, 189095250
Length 1632 bp
Structure linear
Update Date 25-MAY-2014
Organism Homo sapiens (human)
Definition Homo sapiens pyruvate kinase, liver and RBC (PKLR), transcript variant 2, mRNA.
Product pyruvate kinase PKLR 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
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Position Chain Variation Link
complement(35)-t, cdbSNP:375257968
complement(66)-t, cdbSNP:372152236
complement(79)-g, adbSNP:137996782
complement(80)-g, adbSNP:368867132
complement(90)-g, cdbSNP:373541741
complement(129)-dbSNP:
complement(129)-t, cdbSNP:148376707
131+a, gdbSNP:118204087
complement(132)-c, adbSNP:141341788
complement(142)-g, adbSNP:375189218
complement(143)-t, cdbSNP:374805791
complement(159)-t, cdbSNP:370696464
complement(192)-t, cdbSNP:200581879
complement(202)-t, cdbSNP:8177962
complement(202)-g, adbSNP:386615921
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(268)-t, cdbSNP:368492204
complement(278)-t, cdbSNP:375471342
complement(303)-g, adbSNP:147391950
complement(316)-dbSNP:
complement(316)-g, adbSNP:148636159
complement(322)-c, adbSNP:143984223
complement(329)-t, cdbSNP:371471086
410+dbSNP:
410+a, cdbSNP:118204089
complement(501)-t, cdbSNP:146187567
508+c, tdbSNP:118204083
complement(526)-c, adbSNP:199824528
complement(528)-t, cdbSNP:201674983
complement(544)-dbSNP:
complement(544)-t, cdbSNP:370513342
complement(550)-g, adbSNP:138482544
complement(581)-g, adbSNP:370932346
complement(647)-t, cdbSNP:200480300
complement(659)-g, adbSNP:200979497
complement(677)-g, adbSNP:200572803
complement(742)-dbSNP:
complement(742)-c, adbSNP:201953584
complement(767)-t, cdbSNP:368830326
complement(772)-t, cdbSNP:267598065
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(940)-t, cdbSNP:373990660
complement(993)-dbSNP:
complement(993)-t, cdbSNP:8177974
complement(993)-t, cdbSNP:386615923
complement(1014)-g, adbSNP:138476691
complement(1047)-g, adbSNP:376694187
complement(1096)-g, adbSNP:138871700
complement(1165)-dbSNP:
complement(1165)-g, adbSNP:140964046
1172+c, tdbSNP:74315362
complement(1180)-t, cdbSNP:147089210
complement(1189)-t, cdbSNP:147034239
complement(1191)-g, adbSNP:141596564
complement(1230)-t, cdbSNP:368784290
complement(1237)-t, cdbSNP:375456388
1282+a, cdbSNP:118204084
complement(1324)-dbSNP:
complement(1324)-g, adbSNP:142238268
complement(1346)-t, cdbSNP:370554398
complement(1366)-g, adbSNP:189360283
complement(1367)-t, cdbSNP:149932430
complement(1386)-g, adbSNP:146708702
complement(1390)-t, cdbSNP:377022809
complement(1400)-g, adbSNP:149946271
complement(1456)-g, adbSNP:201406712
complement(1477)-dbSNP:
complement(1477)-g, adbSNP:116100695
complement(1484)-t, cdbSNP:369183199
complement(1489)-g, adbSNP:200133000
complement(1505)-g, adbSNP:141560532
complement(1532)-c, adbSNP:185753709
complement(1537)-g, adbSNP:8177988
complement(1537)-g, adbSNP:386431321
complement(1539)-g, adbSNP:376065116
complement(1542)-g, adbSNP:201011399
complement(1550)-t, cdbSNP:113403872
complement(1560)-g, adbSNP:371489505
complement(1573)-g, adbSNP:139002629
complement(1615)-g, adbSNP:201255024
complement(1620)-c, adbSNP:192697407
complement(1635)-t, adbSNP:201217064
complement(1661)-dbSNP:
complement(1661)-t, cdbSNP:375525211
complement(1666)-t, cdbSNP:190966689
complement(1675)-t, cdbSNP:370316462
complement(1694)-t, cdbSNP:370938255
complement(1707)-g, adbSNP:140859641
1726+a, cdbSNP:1052176
complement(1727)-t, cdbSNP:61755431
complement(1749)-g, adbSNP:368150636
1759+c, tdbSNP:1052177
1760+c, tdbSNP:8177994
complement(1761)-g, adbSNP:374751259
complement(1827)-g, adbSNP:186058494
complement(1955..1956)-, cdbSNP:35957800
2013+c, tdbSNP:932972
2211+c, gdbSNP:8177995
complement(2481)-t, cdbSNP:180944719
complement(2541)-t, cdbSNP:370142273
complement(2639)-c, adbSNP:41264939
2786+a, gdbSNP: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_181871 Homo sapiens pyruvate kinase, liver and RBC (PKLR), transcript variant 2, mRNA. On-demand $219.00 7-9
NM_181871 Homo sapiens pyruvate kinase, liver and RBC (PKLR), transcript variant 2, mRNA. On-demand $219.00 7-9
NM_181871 Homo sapiens pyruvate kinase, liver and RBC (PKLR), transcript variant 2, mRNA. On-demand $219.00 7-9
NM_181871 Homo sapiens pyruvate kinase, liver and RBC (PKLR), transcript variant 2, mRNA. On-demand $219.00 7-9
NM_181871 Homo sapiens pyruvate kinase, liver and RBC (PKLR), transcript variant 2, mRNA. On-demand $219.00 7-9
Title Novel type of red blood cell pyruvate kinase hyperactivity predicts a remote regulatory locus involved in PKLR gene expression .
Author van Oirschot BA, Francois JJ, van Solinge WW, van Wesel AC, Rijksen G, van Amstel HK and van Wijk R.
Journal Am. J. Hematol. 89 (4), 380-384 (2014)
Title Herpes simplex virus type 1 virion-derived US11 inhibits type 1 interferon-induced protein kinase R phosphorylation .
Author Ishioka K, Ikuta K, Sato Y, Kaneko H, Sorimachi K, Fukushima E, Saijo M and Suzutani T.
Journal Microbiol. Immunol. 57 (6), 426-436 (2013)
Title Genome-wide association analyses identify 18 new loci associated with serum urate concentrations .
Author Kottgen A, Albrecht E, Teumer A, Vitart V, Krumsiek J, Hundertmark C, Pistis G, Ruggiero D, O'Seaghdha CM, Haller T, Yang Q, Tanaka T, Johnson AD, Kutalik Z, Smith AV, Shi J, Struchalin M, Middelberg RP, Brown MJ, Gaffo AL, Pirastu N, Li G, Hayward C, Zemunik T, Huffman J, Yengo L, Zhao JH, Demirkan A, Feitosa MF, Liu X, Malerba G, Lopez LM, van der Harst P, Li X, Kleber ME, Hicks AA, Nolte IM, Johansson A, Murgia F, Wild SH, Bakker SJ, Peden JF, Dehghan A, Steri M, Tenesa A, Lagou V, Salo P, Mangino M, Rose LM, Lehtimaki T, Woodward OM, Okada Y, Tin A, Muller C, Oldmeadow C, Putku M, Czamara D, Kraft P, Frogheri L, Thun GA, Grotevendt A, Gislason GK, Harris TB, Launer LJ, McArdle P, Shuldiner AR, Boerwinkle E, Coresh J, Schmidt H, Schallert M, Martin NG, Montgomery GW, Kubo M, Nakamura Y, Tanaka T, Munroe PB, Samani NJ, Jacobs DR Jr, Liu K, D'Adamo P, Ulivi S, Rotter JI, Psaty BM, Vollenweider P, Waeber G, Campbell S, Devuyst O, Navarro P, Kolcic I, Hastie N, Balkau B, Froguel P, Esko T, Salumets A, Khaw KT, Langenberg C, Wareham NJ, Isaacs A, Kraja A, Zhang Q, Wild PS, Scott RJ, Holliday EG, Org E, Viigimaa M, Bandinelli S, Metter JE, Lupo A, Trabetti E, Sorice R, Doring A, Lattka E, Strauch K, Theis F, Waldenberger M, Wichmann HE, Davies G, Gow AJ, Bruinenberg M, Stolk RP, Kooner JS, Zhang W, Winkelmann BR, Boehm BO, Lucae S, Penninx BW, Smit JH, Curhan G, Mudgal P, Plenge RM, Portas L, Persico I, Kirin M, Wilson JF, Mateo Leach I, van Gilst WH, Goel A, Ongen H, Hofman A, Rivadeneira F, Uitterlinden AG, Imboden M, von Eckardstein A, Cucca F, Nagaraja R, Piras MG, Nauck M, Schurmann C, Budde K, Ernst F, Farrington SM, Theodoratou E, Prokopenko I, Stumvoll M, Jula A, Perola M, Salomaa V, Shin SY, Spector TD, Sala C, Ridker PM, Kahonen M, Viikari J, Hengstenberg C, Nelson CP, Meschia JF, Nalls MA, Sharma P, Singleton AB, Kamatani N, Zeller T, Burnier M, Attia J, Laan M, Klopp N, Hillege HL, Kloiber S, Choi H, Pirastu M, Tore S, Probst-Hensch NM, Volzke H, Gudnason V, Parsa A, Schmidt R, Whitfield JB, Fornage M, Gasparini P, Siscovick DS, Polasek O, Campbell H, Rudan I, Bouatia-Naji N, Metspalu A, Loos RJ, van Duijn CM, Borecki IB, Ferrucci L, Gambaro G, Deary IJ, Wolffenbuttel BH, Chambers JC, Marz W, Pramstaller PP, Snieder H, Gyllensten U, Wright AF, Navis G, Watkins H, Witteman JC, Sanna S, Schipf S, Dunlop MG, Tonjes A, Ripatti S, Soranzo N, Toniolo D, Chasman DI, Raitakari O, Kao WH, Ciullo M, Fox CS, Caulfield M, Bochud M and Gieger C.
Journal Nat. Genet. 45 (2), 145-154 (2013)
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 CB and Fenton AW.
Journal Biochemistry 52 (3), 466-476 (2013)
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 VE and Arez AP.
Journal PLoS ONE 7 (10), E47071 (2012)
Title Pyruvate kinase deficiency: the genotype-phenotype association .
Author Zanella A, Fermo E, Bianchi P, Chiarelli LR 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 SJ and White LA.
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)

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