Sequence in raw or FASTA format:
Homo sapiens phosphofructokinase, muscle (PFKM), transcript variant 1, mRNA.
| RefSeq Version | NM_001166686.1, 266453618 |
| Length | 3536 bp |
| Structure | linear |
| Update Date | 01-MAY-2011 |
| 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. 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 | Exon (1) | 1..265 | Exon (2) | 1..265 | Exon (3) | 266..356 | Exon (4) | 357..479 | Exon (5) | 480..572 | Exon (6) | 573..646 | Exon (7) | 647..724 | Exon (8) | 725..914 | Exon (9) | 915..1080 | Exon (10) | 1081..1125 | Exon (11) | 1126..1234 | Exon (12) | 1235..1330 | Exon (13) | 1331..1423 | Exon (14) | 1424..1549 | Exon (15) | 1550..1614 | Exon (16) | 1615..1678 | Exon (17) | 1679..1828 | Exon (18) | 1829..1899 | Exon (19) | 1900..1987 | Exon (20) | 1988..2140 | Exon (21) | 2141..2305 | Exon (22) | 2306..2367 | Exon (23) | 2368..2479 | Exon (24) | 2480..2579 | Exon (25) | 2580..2685 | Exon (26) | 2686..3526 |
| Translation | MHKDEFHLKFFMCVIQSRQLVRTPQRTAGEASTSSMLIPKPPPKTDILKSLDTMDDPDTV
GSIPVFKTEWIMTHEEHHAAKTLGIGKAIAVLTSGGDAQGMNAAVRAVVRVGIFTGARVF
FVHEGYQGLVDGGDHIKEATWESVSMMLQLGGTVIGSARCKDFREREGRLRAAYNLVKRG
ITNLCVIGGDGSLTGADTFRSEWSDLLSDLQKAGKITDEEATKSSYLNIVGLVGSIDNDF
CGTDMTIGTDSALHRIMEIVDAITTTAQSHQRTFVLEVMGRHCGYLALVTSLSCGADWVF
IPECPPDDDWEEHLCRRLSETRTRGSRLNIIIVAEGAIDKNGKPITSEDIKNLVVKRLGY
DTRVTVLGHVQRGGTPSAFDRILGSRMGVEAVMALLEGTPDTPACVVSLSGNQAVRLPLM
ECVQVTKDVTKAMDEKKFDEALKLRGRSFMNNWEVYKLLAHVRPPVSKSGSHTVAVMNVG
APAAGMNAAVRSTVRIGLIQGNRVLVVHDGFEGLAKGQIEEAGWSYVGGWTGQGGSKLGT
KRTLPKKSFEQISANITKFNIQGLVIIGGFEAYTGGLELMEGRKQFDELCIPFVVIPATV
SNNVPGSDFSVGADTALNTICTTCDRIKQSAAGTKRRVFIIETMGGYCGYLATMAGLAAG
ADAAYIFEEPFTIRDLQANVEHLVQKMKTTVKRGLVLRNEKCNENYTTDFIFNLYSEEGK
GIFDSRKNVLGHMQQGGSPTPFDRNFATKMGAKAMNWMSGKIKESYRNGRIFANTPDSGC
VLGMRKRALVFQPVAELKDQTDFEHRIPKEQWWLKLRPILKILAKYEIDLDTSDHAHLEH
ITRKRSGEAAV
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| Position | Chain | Variation | Link |
| 279 | + | a, t | dbSNP:11609399 |
| 562 | + | a, g | dbSNP:112068344 |
| 603 | + | c, g, t | dbSNP:121918193 |
| 733 | + | a, g | dbSNP:2228501 |
| 770 | + | c, t | dbSNP:121918195 |
| 786 | + | a, g | dbSNP:2228500 |
| 793 | + | c, t | dbSNP:11552507 |
| 915..920 | + | , largedeletion | dbSNP:71691271 |
| 1003 | + | c, t | dbSNP:1049392 |
| 1194 | + | a, t | dbSNP:12826853 |
| 1195 | + | a, t | dbSNP:12828446 |
| 1589 | + | g, t | dbSNP:11552506 |
| 1674 | + | c, t | dbSNP:12317430 |
| 1781 | + | c, t | dbSNP:41291965 |
| 2115 | + | a, c | dbSNP:121918194 |
| 2545 | + | g, t | dbSNP:121918196 |
| 2574 | + | a, g | dbSNP:41291971 |
| 2821 | + | g, t | dbSNP:8716 |
| 3005 | + | c, t | dbSNP:1802781 |
| 3083 | + | a, c | dbSNP:14683 |
| 3112 | + | c, t | dbSNP:8977 |
| 3151 | + | a, g | dbSNP:3189641 |
| 3227 | + | a, c | dbSNP:111633950 |
| 3241 | + | a, g | dbSNP:79507126 |
| Gene Symbol | PFKM |
| Gene Synonym | GSD7; MGC8699; PFK-1; PFK1; PFKA; PFKX |
| Chromosome | 12 |
| Locus Map | 12q13.3 |
| All Transcripts | NM_001166686 , NM_000289 , NM_001166687 , NM_001166688 |
| Title | Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study . |
| Author | Flachsbart,F., Franke,A., Kleindorp,R., Caliebe,A., Blanche,H., Schreiber,S. and Nebel,A. |
| Journal | Mutat. Res. 694 (1-2), 13-19 (2010) |
| Title | Physiogenomic analysis of statin-treated patients: domain-specific counter effects within the ACACB gene on low-density lipoprotein cholesterol? . |
| Author | Ruano,G., Thompson,P.D., Kane,J.P., Pullinger,C.R., Windemuth,A., Seip,R.L., Kocherla,M., Holford,T.R. and Wu,A.H. |
| Journal | Pharmacogenomics 11 (7), 959-971 (2010) |
| Title | Evolution of allosteric citrate binding sites on 6-phosphofructo-1-kinase . |
| Author | Usenik,A. and Legisa,M. |
| Journal | PLoS ONE 5 (11), E15447 (2010) |
| 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) |
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