• THAT   AND
  • THAT   AND


Sequence in raw or FASTA format:

Database:

Blast Method:

 
 


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


RefSeq Accession Definition Services Price Order
NM_001166686 Homo sapiens phosphofructokinase, muscle (PFKM), transcript variant 1, mRNA. ORF Sequence $741.24
Peptide Services
Antibody Services
Protein Services


RefSeq Version NM_001166686.1, 266453618
Length 3536 bp
Structure linear
Update Date 17-APR-2013
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
Exon (2)266..356
Gene:PFKM
Gene Synonym:GSD7; PFK-1; PFK1; PFKA; PFKX
Exon (3)357..479
Gene:PFKM
Gene Synonym:GSD7; PFK-1; PFK1; PFKA; PFKX
Exon (4)480..572
Gene:PFKM
Gene Synonym:GSD7; PFK-1; PFK1; PFKA; PFKX
Exon (5)573..646
Gene:PFKM
Gene Synonym:GSD7; PFK-1; PFK1; PFKA; PFKX
Exon (6)647..724
Gene:PFKM
Gene Synonym:GSD7; PFK-1; PFK1; PFKA; PFKX
Exon (7)725..914
Gene:PFKM
Gene Synonym:GSD7; PFK-1; PFK1; PFKA; PFKX
Exon (8)915..1080
Gene:PFKM
Gene Synonym:GSD7; PFK-1; PFK1; PFKA; PFKX
Exon (9)1081..1125
Gene:PFKM
Gene Synonym:GSD7; PFK-1; PFK1; PFKA; PFKX
Exon (10)1126..1234
Gene:PFKM
Gene Synonym:GSD7; PFK-1; PFK1; PFKA; PFKX
Exon (11)1235..1330
Gene:PFKM
Gene Synonym:GSD7; PFK-1; PFK1; PFKA; PFKX
Exon (12)1331..1423
Gene:PFKM
Gene Synonym:GSD7; PFK-1; PFK1; PFKA; PFKX
Exon (13)1424..1549
Gene:PFKM
Gene Synonym:GSD7; PFK-1; PFK1; PFKA; PFKX
Exon (14)1550..1614
Gene:PFKM
Gene Synonym:GSD7; PFK-1; PFK1; PFKA; PFKX
Exon (15)1615..1678
Gene:PFKM
Gene Synonym:GSD7; PFK-1; PFK1; PFKA; PFKX
Exon (16)1679..1828
Gene:PFKM
Gene Synonym:GSD7; PFK-1; PFK1; PFKA; PFKX
Exon (17)1829..1899
Gene:PFKM
Gene Synonym:GSD7; PFK-1; PFK1; PFKA; PFKX
Exon (18)1900..1987
Gene:PFKM
Gene Synonym:GSD7; PFK-1; PFK1; PFKA; PFKX
Exon (19)1988..2140
Gene:PFKM
Gene Synonym:GSD7; PFK-1; PFK1; PFKA; PFKX
Exon (20)2141..2305
Gene:PFKM
Gene Synonym:GSD7; PFK-1; PFK1; PFKA; PFKX
Exon (21)2306..2367
Gene:PFKM
Gene Synonym:GSD7; PFK-1; PFK1; PFKA; PFKX
Exon (22)2368..2479
Gene:PFKM
Gene Synonym:GSD7; PFK-1; PFK1; PFKA; PFKX
Exon (23)2480..2579
Gene:PFKM
Gene Synonym:GSD7; PFK-1; PFK1; PFKA; PFKX
Exon (24)2580..2685
Gene:PFKM
Gene Synonym:GSD7; PFK-1; PFK1; PFKA; PFKX
Exon (25)2686..3526
Gene:PFKM
Gene Synonym:GSD7; PFK-1; PFK1; PFKA; PFKX
Translation MHKDEFHLKFFMCVIQSRQLVRTPQRTAGEASTSSMLIPKPPPKTDILKSLDTMDDPDTV GSIPVFKTEWIMTHEEHHAAKTLGIGKAIAVLTSGGDAQGMNAAVRAVVRVGIFTGARVF FVHEGYQGLVDGGDHIKEATWESVSMMLQLGGTVIGSARCKDFREREGRLRAAYNLVKRG ITNLCVIGGDGSLTGADTFRSEWSDLLSDLQKAGKITDEEATKSSYLNIVGLVGSIDNDF CGTDMTIGTDSALHRIMEIVDAITTTAQSHQRTFVLEVMGRHCGYLALVTSLSCGADWVF IPECPPDDDWEEHLCRRLSETRTRGSRLNIIIVAEGAIDKNGKPITSEDIKNLVVKRLGY DTRVTVLGHVQRGGTPSAFDRILGSRMGVEAVMALLEGTPDTPACVVSLSGNQAVRLPLM ECVQVTKDVTKAMDEKKFDEALKLRGRSFMNNWEVYKLLAHVRPPVSKSGSHTVAVMNVG APAAGMNAAVRSTVRIGLIQGNRVLVVHDGFEGLAKGQIEEAGWSYVGGWTGQGGSKLGT KRTLPKKSFEQISANITKFNIQGLVIIGGFEAYTGGLELMEGRKQFDELCIPFVVIPATV SNNVPGSDFSVGADTALNTICTTCDRIKQSAAGTKRRVFIIETMGGYCGYLATMAGLAAG ADAAYIFEEPFTIRDLQANVEHLVQKMKTTVKRGLVLRNEKCNENYTTDFIFNLYSEEGK GIFDSRKNVLGHMQQGGSPTPFDRNFATKMGAKAMNWMSGKIKESYRNGRIFANTPDSGC VLGMRKRALVFQPVAELKDQTDFEHRIPKEQWWLKLRPILKILAKYEIDLDTSDHAHLEH ITRKRSGEAAV
Order your protein of interest with our Guaranteed or It's Free Service now! For details, please click here.
Position Chain Variation Link
219..220+dbSNP:
219..220+, cdbSNP:151237831
243+c, tdbSNP:140895856
279+a, tdbSNP:11609399
287+g, tdbSNP:190392934
327+g, tdbSNP:193298317
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
770+c, tdbSNP:121918195
779+c, tdbSNP:138893744
786+a, gdbSNP:2228500
793+c, tdbSNP:11552507
834+c, tdbSNP:200544560
931+dbSNP:
931+c, gdbSNP:200483147
940+a, gdbSNP:144370737
946+c, tdbSNP:145519821
970+a, gdbSNP:199856938
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
1449+dbSNP:
1449+c, tdbSNP:200252404
1491+c, tdbSNP:201838518
1549+g, tdbSNP:200117091
1589+dbSNP:
1589+g, tdbSNP:11552506
1591+c, tdbSNP:151045985
1614+a, gdbSNP:187131358
1624+dbSNP:
1624+c, gdbSNP:142350679
1642+c, tdbSNP:146318448
1673+g, tdbSNP:140437192
1674+c, tdbSNP:12317430
1701+g, tdbSNP:200616311
1720+a, gdbSNP:147851216
1781+c, tdbSNP:41291965
1825+a, gdbSNP:150378513
1826+a, cdbSNP:145040928
1877+dbSNP:
1877+a, gdbSNP:138655882
1901+dbSNP:
1901+a, tdbSNP:202129930
1963+c, tdbSNP:200847712
1991+dbSNP:
1991+g, tdbSNP:138034499
2115+a, cdbSNP:121918194
2201+a, cdbSNP:149491804
2215+c, tdbSNP:143070090
2283+c, tdbSNP:138563060
2405+dbSNP:
2405+a, gdbSNP:142495522
2412+a, gdbSNP:141550921
2433+a, gdbSNP:199528011
2545+dbSNP:
2545+g, tdbSNP:121918196
2574+a, gdbSNP:41291971
2628+dbSNP:
2628+a, gdbSNP:139020923
2666+a, cdbSNP:200059424
2688+dbSNP:
2688+a, gdbSNP:141570669
2799+c, tdbSNP:201190252
2821+g, tdbSNP:8716
2884+a, gdbSNP:190580764
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
Chromosome12
Locus Map12q13.3
All Transcripts
RefSeq Accession Definition Sequence Price Select
NM_000289 Homo sapiens phosphofructokinase, muscle (PFKM), transcript variant 4, mRNA. Full Length $1131.90
ORF Sequence $679.47
NM_001166686 Homo sapiens phosphofructokinase, muscle (PFKM), transcript variant 1, mRNA. Full Length $1237.60
ORF Sequence $741.24
NM_001166687 Homo sapiens phosphofructokinase, muscle (PFKM), transcript variant 2, mRNA. Full Length $1080.80
ORF Sequence $679.47
NM_001166688 Homo sapiens phosphofructokinase, muscle (PFKM), transcript variant 3, mRNA. Full Length $1111.95
ORF Sequence $679.47
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 Clinical features and new molecular findings in muscle phosphofructokinase deficiency (GSD type VII) .
Author Musumeci,O., Bruno,C., Mongini,T., Rodolico,C., Aguennouz,M., Barca,E., Amati,A., Cassandrini,D., Serlenga,L., Vita,G. and Toscano,A.
Journal Neuromuscul. Disord. 22 (4), 325-330 (2012)
Title Novel testis- and embryo-specific isoforms of the phosphofructokinase-1 muscle type gene .
Author Yamada,S., Nakajima,H. and Kuehn,M.R.
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,T.D., Akots,G. and Bowden,D.W.
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,M.C., Quezado,M., Nagle,J., Leon-Monzon,M., Dubnick,M., Gajdusek,D.C. and Goldfarb,L.G.
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,P.M., Reddy,G.R., Babior,B.M. 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)

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

Secured Online Quotation
Email: gene@genscript.com
Phone: 1-877-436-7274 (Toll-Free) 1-732-885-9188
Fax: 1-732-210-0262 1-732-885-5878