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Homo sapiens phosphofructokinase, muscle (PFKM), transcript variant 1, mRNA.


Clone ID Definition Vector Stock Status Price *Turnaround time Order
OHu28128 Homo sapiens phosphofructokinase, muscle (PFKM), transcript variant 1, mRNA. pcDNA3.1+-DYK On-demand $279.00 12-14
OHu28128C Homo sapiens phosphofructokinase, muscle (PFKM), transcript variant 1, mRNA. Customized vector On-demand $329.00 12-14

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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_001166686.1, 266453618
Length 2556 bp
Structure linear
Update Date 15-JUN-2014
Organism Homo sapiens (human)
Definition Homo sapiens phosphofructokinase, muscle (PFKM), transcript variant 1, mRNA.
Product 6-phosphofructokinase, muscle type isoform 1
Comment

Summary: Three phosphofructokinase isozymes exist in humans: muscle, liver and platelet. These isozymes function as subunits of the mammalian tetramer phosphofructokinase, which catalyzes the phosphorylation of fructose-6-phosphate to fructose-1,6-bisphosphate. Tetramer composition varies depending on tissue type. This gene encodes the muscle-type isozyme. Mutations in this gene have been associated with glycogen storage disease type VII, also known as Tarui disease. Alternatively spliced transcript variants have been described.[provided by RefSeq, Nov 2009].


Transcript Variant: This variant (1) represents the longest transcript (also known as TE-PFKM) and encodes the longer isoform (1).

RefSeq NP_001160158.1
CDS 275..2830
Misc Feature(1)263..265
Misc Feature(2)524..2809
Misc Feature(3)524..2809
Misc Feature(4)533..2752
Exon (1)1..265
Gene:PFKM
Gene Synonym:GSD7; PFK-1; PFK1; PFKA; PFKX; PPP1R122
Exon (2)266..356
Gene:PFKM
Gene Synonym:GSD7; PFK-1; PFK1; PFKA; PFKX; PPP1R122
Exon (3)357..479
Gene:PFKM
Gene Synonym:GSD7; PFK-1; PFK1; PFKA; PFKX; PPP1R122
Exon (4)480..572
Gene:PFKM
Gene Synonym:GSD7; PFK-1; PFK1; PFKA; PFKX; PPP1R122
Exon (5)573..646
Gene:PFKM
Gene Synonym:GSD7; PFK-1; PFK1; PFKA; PFKX; PPP1R122
Exon (6)647..724
Gene:PFKM
Gene Synonym:GSD7; PFK-1; PFK1; PFKA; PFKX; PPP1R122
Exon (7)725..914
Gene:PFKM
Gene Synonym:GSD7; PFK-1; PFK1; PFKA; PFKX; PPP1R122
Exon (8)915..1080
Gene:PFKM
Gene Synonym:GSD7; PFK-1; PFK1; PFKA; PFKX; PPP1R122
Exon (9)1081..1125
Gene:PFKM
Gene Synonym:GSD7; PFK-1; PFK1; PFKA; PFKX; PPP1R122
Exon (10)1126..1234
Gene:PFKM
Gene Synonym:GSD7; PFK-1; PFK1; PFKA; PFKX; PPP1R122
Exon (11)1235..1330
Gene:PFKM
Gene Synonym:GSD7; PFK-1; PFK1; PFKA; PFKX; PPP1R122
Exon (12)1331..1423
Gene:PFKM
Gene Synonym:GSD7; PFK-1; PFK1; PFKA; PFKX; PPP1R122
Exon (13)1424..1549
Gene:PFKM
Gene Synonym:GSD7; PFK-1; PFK1; PFKA; PFKX; PPP1R122
Exon (14)1550..1614
Gene:PFKM
Gene Synonym:GSD7; PFK-1; PFK1; PFKA; PFKX; PPP1R122
Exon (15)1615..1678
Gene:PFKM
Gene Synonym:GSD7; PFK-1; PFK1; PFKA; PFKX; PPP1R122
Exon (16)1679..1828
Gene:PFKM
Gene Synonym:GSD7; PFK-1; PFK1; PFKA; PFKX; PPP1R122
Exon (17)1829..1899
Gene:PFKM
Gene Synonym:GSD7; PFK-1; PFK1; PFKA; PFKX; PPP1R122
Exon (18)1900..1987
Gene:PFKM
Gene Synonym:GSD7; PFK-1; PFK1; PFKA; PFKX; PPP1R122
Exon (19)1988..2140
Gene:PFKM
Gene Synonym:GSD7; PFK-1; PFK1; PFKA; PFKX; PPP1R122
Exon (20)2141..2305
Gene:PFKM
Gene Synonym:GSD7; PFK-1; PFK1; PFKA; PFKX; PPP1R122
Exon (21)2306..2367
Gene:PFKM
Gene Synonym:GSD7; PFK-1; PFK1; PFKA; PFKX; PPP1R122
Exon (22)2368..2479
Gene:PFKM
Gene Synonym:GSD7; PFK-1; PFK1; PFKA; PFKX; PPP1R122
Exon (23)2480..2579
Gene:PFKM
Gene Synonym:GSD7; PFK-1; PFK1; PFKA; PFKX; PPP1R122
Exon (24)2580..2685
Gene:PFKM
Gene Synonym:GSD7; PFK-1; PFK1; PFKA; PFKX; PPP1R122
Exon (25)2686..3526
Gene:PFKM
Gene Synonym:GSD7; PFK-1; PFK1; PFKA; PFKX; PPP1R122
Translation MHKDEFHLKFFMCVIQSRQLVRTPQRTAGEASTSSMLIPKPPPKTDILKSLDTMDDPDTV GSIPVFKTEWIMTHEEHHAAKTLGIGKAIAVLTSGGDAQGMNAAVRAVVRVGIFTGARVF FVHEGYQGLVDGGDHIKEATWESVSMMLQLGGTVIGSARCKDFREREGRLRAAYNLVKRG ITNLCVIGGDGSLTGADTFRSEWSDLLSDLQKAGKITDEEATKSSYLNIVGLVGSIDNDF CGTDMTIGTDSALHRIMEIVDAITTTAQSHQRTFVLEVMGRHCGYLALVTSLSCGADWVF IPECPPDDDWEEHLCRRLSETRTRGSRLNIIIVAEGAIDKNGKPITSEDIKNLVVKRLGY DTRVTVLGHVQRGGTPSAFDRILGSRMGVEAVMALLEGTPDTPACVVSLSGNQAVRLPLM ECVQVTKDVTKAMDEKKFDEALKLRGRSFMNNWEVYKLLAHVRPPVSKSGSHTVAVMNVG APAAGMNAAVRSTVRIGLIQGNRVLVVHDGFEGLAKGQIEEAGWSYVGGWTGQGGSKLGT KRTLPKKSFEQISANITKFNIQGLVIIGGFEAYTGGLELMEGRKQFDELCIPFVVIPATV SNNVPGSDFSVGADTALNTICTTCDRIKQSAAGTKRRVFIIETMGGYCGYLATMAGLAAG ADAAYIFEEPFTIRDLQANVEHLVQKMKTTVKRGLVLRNEKCNENYTTDFIFNLYSEEGK GIFDSRKNVLGHMQQGGSPTPFDRNFATKMGAKAMNWMSGKIKESYRNGRIFANTPDSGC VLGMRKRALVFQPVAELKDQTDFEHRIPKEQWWLKLRPILKILAKYEIDLDTSDHAHLEH ITRKRSGEAAV
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Position Chain Variation Link
20+dbSNP:
20+a, gdbSNP:373209782
196+a, gdbSNP:377385692
219..220+, cdbSNP:151237831
243+c, tdbSNP:140895856
279+a, tdbSNP:11609399
287+a, g, tdbSNP:190392934
327+g, tdbSNP:193298317
333+c, tdbSNP:375639277
370+dbSNP:
370+g, tdbSNP:373844201
420+a, cdbSNP:371183330
432+c, gdbSNP:375402222
451+c, tdbSNP:368018099
492+dbSNP:
492+c, tdbSNP:151279280
528+c, tdbSNP:140473672
539+a, gdbSNP:150405056
562+a, gdbSNP:112068344
603+a, c, g, tdbSNP:121918193
643+c, tdbSNP:145185640
668+dbSNP:
668+a, gdbSNP:201380165
672+a, gdbSNP:142313256
733+dbSNP:
733+a, gdbSNP:2228501
751+g, tdbSNP:369867876
770+c, tdbSNP:121918195
779+c, tdbSNP:138893744
785+c, tdbSNP:374547385
786+a, gdbSNP:2228500
793+c, tdbSNP:11552507
834+c, tdbSNP:200544560
867+c, tdbSNP:377343614
906+a, gdbSNP:370229521
931+dbSNP:
931+c, gdbSNP:200483147
939+c, tdbSNP:374572664
940+a, gdbSNP:144370737
946+c, tdbSNP:145519821
970+a, gdbSNP:199856938
971+a, gdbSNP:371418617
982+a, tdbSNP:148858610
983+g, tdbSNP:150522604
987+a, gdbSNP:143485300
1001+a, gdbSNP:139800248
1003+c, tdbSNP:1049392
1021+c, tdbSNP:146157053
1037+c, tdbSNP:140165624
1038+a, gdbSNP:149825847
1068+c, tdbSNP:183491829
1189+dbSNP:
1189+a, tdbSNP:138022863
1194+a, tdbSNP:12826853
1195+a, tdbSNP:12828446
1209+a, gdbSNP:148544344
1307+dbSNP:
1307+a, gdbSNP:142868881
1359+dbSNP:
1359+c, gdbSNP:374834157
1361+c, tdbSNP:368997884
1370+a, gdbSNP:372724105
1449+dbSNP:
1449+c, tdbSNP:200252404
1491+c, tdbSNP:201838518
1549+g, tdbSNP:200117091
1589+dbSNP:
1589+g, tdbSNP:11552506
1591+c, tdbSNP:151045985
1602+a, gdbSNP:375592512
1614+a, gdbSNP:187131358
1624+dbSNP:
1624+c, gdbSNP:142350679
1642+c, tdbSNP:146318448
1669+a, gdbSNP:372189049
1673+g, tdbSNP:140437192
1674+c, tdbSNP:12317430
1701+g, tdbSNP:200616311
1781+c, tdbSNP:41291965
1782+a, gdbSNP:374824469
1798+c, tdbSNP:369182995
1818+c, tdbSNP:370890319
1825+a, gdbSNP:150378513
1826+a, cdbSNP:145040928
1877+dbSNP:
1877+a, gdbSNP:138655882
1901+dbSNP:
1901+a, tdbSNP:202129930
1926+a, gdbSNP:370415753
1951+c, tdbSNP:374814413
1963+c, tdbSNP:200847712
1991+dbSNP:
1991+g, tdbSNP:138034499
2104+c, tdbSNP:371605516
2105+a, gdbSNP:376138631
2115+a, cdbSNP:121918194
2201+a, cdbSNP:149491804
2214+a, tdbSNP:370424471
2215+c, tdbSNP:143070090
2258+a, gdbSNP:369528330
2283+c, tdbSNP:138563060
2405+dbSNP:
2405+a, gdbSNP:142495522
2412+a, gdbSNP:141550921
2433+a, gdbSNP:199528011
2488+dbSNP:
2488+c, tdbSNP:367955366
2527+c, tdbSNP:369893708
2545+g, tdbSNP:121918196
2574+a, gdbSNP:41291971
2608+dbSNP:
2608+a, gdbSNP:370046842
2613+a, gdbSNP:373055147
2624+a, gdbSNP:386352348
2628+a, gdbSNP:139020923
2639+c, gdbSNP:376295291
2666+a, cdbSNP:200059424
2681+g, tdbSNP:369389809
2688+dbSNP:
2688+a, gdbSNP:141570669
2740+a, cdbSNP:370779782
2752+c, tdbSNP:374418157
2799+c, tdbSNP:201190252
2808+a, gdbSNP:374235662
2821+g, tdbSNP:8716
2833+c, tdbSNP:367783282
2859+c, tdbSNP:371922484
2884+a, gdbSNP:190580764
2924+a, gdbSNP:370745910
2993+a, gdbSNP:370250637
3005+c, tdbSNP:1802781
3017+a, gdbSNP:182762691
3083+a, cdbSNP:14683
3087+a, gdbSNP:149738911
3112+c, tdbSNP:8977
3151+a, gdbSNP:3189641
3227+a, cdbSNP:111633950
3241+a, gdbSNP:79507126
Gene SymbolPFKM
Gene SynonymGSD7; PFK-1; PFK1; PFKA; PFKX; PPP1R122
Chromosome12
Locus Map12q13.3
All Transcripts
RefSeq Accession Definition Stock Status Price Turnaround time Business Day Select
NM_001166686 Homo sapiens phosphofructokinase, muscle (PFKM), transcript variant 1, mRNA. On-demand $279.00 12-14
NM_001166687 Homo sapiens phosphofructokinase, muscle (PFKM), transcript variant 2, mRNA. In-stock $99.00 5-7
NM_000289 Homo sapiens phosphofructokinase, muscle (PFKM), transcript variant 4, mRNA. In-stock $99.00 5-7
NM_001166688 Homo sapiens phosphofructokinase, muscle (PFKM), transcript variant 3, mRNA. In-stock $99.00 5-7
XM_005268974 PREDICTED: Homo sapiens phosphofructokinase, muscle (PFKM), transcript variant X1, mRNA. On-demand $279.00 12-14
XM_005268975 PREDICTED: Homo sapiens phosphofructokinase, muscle (PFKM), transcript variant X2, mRNA. On-demand $279.00 12-14
XM_005268976 PREDICTED: Homo sapiens phosphofructokinase, muscle (PFKM), transcript variant X3, mRNA. On-demand $279.00 12-14
XM_005268977 PREDICTED: Homo sapiens phosphofructokinase, muscle (PFKM), transcript variant X4, mRNA. On-demand $279.00 12-14
XM_005268978 PREDICTED: Homo sapiens phosphofructokinase, muscle (PFKM), transcript variant X5, mRNA. On-demand $279.00 12-14
XM_005268979 PREDICTED: Homo sapiens phosphofructokinase, muscle (PFKM), transcript variant X6, mRNA. On-demand $279.00 12-14
XM_005268980 PREDICTED: Homo sapiens phosphofructokinase, muscle (PFKM), transcript variant X7, mRNA. On-demand $279.00 12-14
XM_006719463 PREDICTED: Homo sapiens phosphofructokinase, muscle (PFKM), transcript variant X8, mRNA. On-demand $279.00 12-14
XM_006719464 PREDICTED: Homo sapiens phosphofructokinase, muscle (PFKM), transcript variant X9, mRNA. On-demand $279.00 12-14
Title Expression of phosphofructokinase in skeletal muscle is influenced by genetic variation and associated with insulin sensitivity .
Author Keildson S, Fadista J, Ladenvall C, Hedman AK, Elgzyri T, Small KS, Grundberg E, Nica AC, Glass D, Richards JB, Barrett A, Nisbet J, Zheng HF, Ronn T, Strom K, Eriksson KF, Prokopenko I, Spector TD, Dermitzakis ET, Deloukas P, McCarthy MI, Rung J, Groop L, Franks PW, Lindgren CM and Hansson O.
Journal Diabetes 63 (3), 1154-1165 (2014)
Title Altered allosteric regulation of muscle 6-phosphofructokinase causes Tarui disease .
Author Bruser A, Kirchberger J and Schoneberg T.
Journal Biochem. Biophys. Res. Commun. 427 (1), 133-137 (2012)
Title Functional linkage of adenine nucleotide binding sites in mammalian muscle 6-phosphofructokinase .
Author Bruser A, Kirchberger J, Kloos M, Strater N and Schoneberg T.
Journal J. Biol. Chem. 287 (21), 17546-17553 (2012)
Title Novel testis- and embryo-specific isoforms of the phosphofructokinase-1 muscle type gene .
Author Yamada S, Nakajima H and Kuehn MR.
Journal Biochem. Biophys. Res. Commun. 316 (2), 580-587 (2004)
Title Physical and genetic mapping of the muscle phosphofructokinase gene (PFKM): reassignment to human chromosome 12q .
Author Howard TD, Akots G and Bowden DW.
Journal Genomics 34 (1), 122-127 (1996)
Title Nonsense mutation in the phosphofructokinase muscle subunit gene associated with retention of intron 10 in one of the isolated transcripts in Ashkenazi Jewish patients with Tarui disease .
Author Vasconcelos O, Sivakumar K, Dalakas MC, Quezado M, Nagle J, Leon-Monzon M, Dubnick M, Gajdusek DC and Goldfarb LG.
Journal Proc. Natl. Acad. Sci. U.S.A. 92 (22), 10322-10326 (1995)
Title Structure of the entire human muscle phosphofructokinase-encoding gene: a two-promoter system .
Author Yamasaki T, Nakajima H, Kono N, Hotta K, Yamada K, Imai E, Kuwajima M, Noguchi T, Tanaka T and Tarui S.
Journal Gene 104 (2), 277-282 (1991)
Title Alternative splicing of the transcript encoding the human muscle isoenzyme of phosphofructokinase .
Author Sharma PM, Reddy GR, Babior BM and McLachlan A.
Journal J. Biol. Chem. 265 (16), 9006-9010 (1990)
Title Phosphofructokinase (PFK) isozymes in man. I. Studies of adult human tissues .
Author Kahn,A., Meienhofer,M.C., Cottreau,D., Lagrange,J.L. and Dreyfus,J.C.
Journal Hum. Genet. 48 (1), 93-108 (1979)
Title Erythrocyte phosphofructokinase deficiency associated with an unstable variant of muscle phosphofructokinase .
Author Kahn,A., Etiemble,J., Meienhofer,M.C. and Bovin,P.
Journal Clin. Chim. Acta 61 (3), 415-419 (1975)

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