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Gene Model: Pfkm

NomenclatureGenomic Location
SymbolPfkmChromosomeX
NamePhosphofructokinase, muscleLinkage mapunknown
SpeciesDracomimus familiarisGenome CoordinatesX: 69 Mbp

Molecular Function

ATP + D-fructose 6-phosphate = ADP + D-fructose 1,6-bisphosphate.

Molecular Function Terms:

binding
   carbohydrate binding
      sugar binding
         monosaccharide binding
            fructose binding
   nucleotide binding
      purine nucleotide binding
         adenyl nucleotide binding
            adenyl ribonucleotide binding
               AMP binding
               ATP binding
   ion binding
      cation binding
         metal ion binding
   protein binding
      enzyme binding
         kinase binding
      identical protein binding
      protein C-terminus binding

catalytic activity
   transferase activity
      transferase activity, transferring phosphorus-containing groups
         kinase activity
            carbohydrate kinase activity
         phosphotransferase activity, alcohol group as acceptor
            phosphofructokinase activity

Human Disease Association

Defects in PFKM are the cause of glycogen storage disease type 7 (GSD7) [MIM:232800]; also known as Tarui disease. GSD7 is an autosomal recessive disorder characterized by exercise intolerance with associated nausea and vomiting. Short bursts of intense activity are particularly difficult. Severe muscle cramps and myoglobinuria develop after vigorous exercise. Most patients obtain a "second wind" when the onset of exercise is followed by a brief rest period. In time patients adjust their activity level and are well compensated.

Predicted Transcript
     1 ATGGCGCACGTTCCGGGAAAACATGAACATGCTGACACTATGGGGATCGGCAAGGCTATT
    61 GCCGTGTTGACATCTGGAGGAGATGCCCAGGGCATGAATGCTGCTGTCCGGGCTGTAGTC
   121 CGAGTGGGTATATACACTGGTGCCAAAGTGTTCTTCGTTCATGAGGGCTACCAAGGTCTT
   181 GTGGATGGTGGTGACAATATTAGGGAAGCAACATGGGAGAGTGTTTCTATGATGCTGCAA
   241 CTGGGTGGCACAGTGATCGGGAGTGCCAGGTGCAAGGATTTCCGTGATCGTGAAGGACGA
   301 TTGAAAGCTGCACGCAATCTAGTAAAAAGAGGAATCACAAACCTGTGTGTGATTGGAGGC
   361 GATGGCAGTTTGACCGGAGCAGACACCTTCCGAGCAGAATGGAGTGGTTTGCTGCAGGAT
   421 CTGGTTAAGACAGGTGGTATCACAGCAGAAGAAGCAAAGAACTCCAGTCACCTGAACATT
   481 GTTGGCATGGTTGGCTCTATTGATAATGACTTTTGTGGTACTGACATGACCATTGGCACA
   541 GACTCAGCCCTCCATAGGATAATGGAGATAGTAGATGCTATCACCACCACTGCTCAAAGC
   601 CATCAGAGGACCTTTGTGCTGGAGGTGATGGGTCGTCACTGTGGTTATCTAGCCCTTGTA
   661 ACAGCTTTGGCAAGTGGAGCAGACTGGGTTTTCATTCCAGAATCTCCACCAGAGGATGAT
   721 TGGGAGGAACACTTATGCAGGAGGTTAACAGAGACAAGAAATCGAGGTTCACGACTGAAC
   781 ATCATCATTGTAGCTGAAGGAGCCATCGACAAGCATGGCAAGCCCATCACTTCAGAGGAC
   841 ATTAAGAGTCTGGTTGTGAAACGCCTGGGCTATGACACAAGAGTCACCATCCTTGGACAT
   901 GTGCAGCGCGGTGGGACCCCCTCTGCCTTTGATCGTATCCTGGGAAGCAGGATGGGCGTG
   961 GAAGCCGTCATGGCCTTACTAGAAGGAACCCCAGATACCCCAGCATGTGTTGTCAGCCTT
  1021 TCGGGTAACCAAGCCATTCGCCTTCCTCTCATGGAGTGTGTCCAAGTGACAAAGGATGTC
  1081 ACAACAGCAATGAATGAAGGACGGTTTGATGAATCTCTTAAACTTAGAGGAAGGAGTTTC
  1141 CAGAATAACTGGAATGTTTACAAGATCTTGGCTCATGTGCACCCACCCACTGCAAAGAGT
  1201 GGCTACAATTTGGCGGTGATGAATGTGGGGGCACCAGCAGCTGGCATGAATGCAGCCGTG
  1261 AGGTCTACTGTTAGAATCGGATTGATCCATGGCCACAGGATGCTGGCTGTGCATGATGGG
  1321 TTTGAAGGCCTTGCTGAAGGAAAGGTTGAAGAAATTGGATGGAGTGGAGTTGGTGGCTGG
  1381 ACTGGAAGGGGTGGATCAAGCCTTGGAACGAAAAGGACACTGCCCAAGAAATACTTTGAG
  1441 GAAATCAGCAACACAATTGCCAATTTTAATATTCATGGCCTGATCGTCATTGGTGGCTTT
  1501 GAGGCTTTCACTGGCAGCCTGGAATTGATTGAAGGCCGAGCCAAGTTTGAAGAGCTCTGC
  1561 ATCCCAATCTGTGTGATCCCTGCCACCGTCTCTAACAACATTCCTGGCTCTGACTTCAGC
  1621 ATTGGGGCAGACACAGCCCTCAACACCATCACGTCGACTTGTGACCGTATCAAGCAGTCT
  1681 GCAGCTGGCACCAAGAGGCGGGTGTTCATCATTGAGACCATGGGTGGCTACTGTGGCTAT
  1741 CTGGCTACCATGGCAGGTTTGGCTGCTGGAGCTGATGCAGCCTACATTTATGAAGATCCT
  1801 TTCACTATCCGTGACCTGGAGTTAAATGTGTCACATCTGACTGAAAAAATGAAGACCACA
  1861 GTGAAGAGAGGTCTGATATTGAGGAATGAGAAATGTAATGAAAACTATACCACTGAGTTC
  1921 ATATTCAACTTGTATTCTGAGGAGGGAAAAGGCATCTTTGACACCAGGAAGAATGTTTTG
  1981 GGACACATGCAACAGGGTGGATCGCCAACTCCATTTGACAGGAACTTTGGGACGAAAATG
  2041 GGTGCCAAAGCCGTGGCATGGATGTCTGGCAAGATCAAAGAATGCTCCAGACATGGCCGT
  2101 ATTTTTGCCAACACTGCCGATTCAGCTTGCCTCTTGGGCATGCGCAGACGGGCACTTGTT
  2161 TTCCAGCCTCTCATTGAACTTAAACAAGAGACAGATTTTGAGCACCGCATCCCCAAGACT
  2221 CAGTGGTGGCTGAAGCTTCGTCCCATCTTGAAGATTCTTGCCAAATACAAGATCGACTTG
  2281 GATACCTCAGAGACAGCCCACCTAGAGCATATCACCCGCAAGAGAGTATCAGGTGAAGGC
  2341 GCTCTGTGA

Predicted Protein Product
MAHVPGKHEHADTMGIGKAIAVLTSGGDAQGMNAAVRAVVRVGIYTGAKVFFVHEGYQGL
VDGGDNIREATWESVSMMLQLGGTVIGSARCKDFRDREGRLKAARNLVKRGITNLCVIGG
DGSLTGADTFRAEWSGLLQDLVKTGGITAEEAKNSSHLNIVGMVGSIDNDFCGTDMTIGT
DSALHRIMEIVDAITTTAQSHQRTFVLEVMGRHCGYLALVTALASGADWVFIPESPPEDD
WEEHLCRRLTETRNRGSRLNIIIVAEGAIDKHGKPITSEDIKSLVVKRLGYDTRVTILGH
VQRGGTPSAFDRILGSRMGVEAVMALLEGTPDTPACVVSLSGNQAIRLPLMECVQVTKDV
TTAMNEGRFDESLKLRGRSFQNNWNVYKILAHVHPPTAKSGYNLAVMNVGAPAAGMNAAV
RSTVRIGLIHGHRMLAVHDGFEGLAEGKVEEIGWSGVGGWTGRGGSSLGTKRTLPKKYFE
EISNTIANFNIHGLIVIGGFEAFTGSLELIEGRAKFEELCIPICVIPATVSNNIPGSDFS
IGADTALNTITSTCDRIKQSAAGTKRRVFIIETMGGYCGYLATMAGLAAGADAAYIYEDP
FTIRDLELNVSHLTEKMKTTVKRGLILRNEKCNENYTTEFIFNLYSEEGKGIFDTRKNVL
GHMQQGGSPTPFDRNFGTKMGAKAVAWMSGKIKECSRHGRIFANTADSACLLGMRRRALV
FQPLIELKQETDFEHRIPKTQWWLKLRPILKILAKYKIDLDTSETAHLEHITRKRVSGEG
AL
Protein Alignment to Mouse
sp|P47857|K6PF_MOUSE 6-phosphofructokinase, muscle type OS=Mus musculus
            GN=Pfkm PE=1 SV=3
      MGI:97548 Pfkm phosphofructokinase, muscle (Chr 15)
        Length = 780

 Score = 3321 (1174.1 bits), Expect = 0., P = 0.
 Identities = 634/777 (81%), Positives = 693/777 (89%)

Query:     7 KHEHADTMGIGKAIAVLTSGGDAQGMNAAVRAVVRVGIYTGAKVFFVHEGYQGLVDGGDN 66
             +H  A T+GIGKAIAVLTSGGDAQGMNAAVRAVVRVGI+TGA+VFFVHEGYQGLVDGG++
Sbjct:     5 EHHAAKTLGIGKAIAVLTSGGDAQGMNAAVRAVVRVGIFTGARVFFVHEGYQGLVDGGEH 64

Query:    67 IREATWESVSMMLQLGGTVIGSARCKDFRDREGRLKAARNLVKRGITNLCVIGGDGSLTG 126
             IREATWESVSMMLQLGGTVIGSARCKDFR+REGRL+AA NLVKRGITNLCVIGGDGSLTG
Sbjct:    65 IREATWESVSMMLQLGGTVIGSARCKDFREREGRLRAAHNLVKRGITNLCVIGGDGSLTG 124

Query:   127 ADTFRAEWSGLLQDLVKTGGITAEEAKNSSHLNIVGMVGSIDNDFCGTDMTIGTDSALHR 186
             ADTFR+EWS LL DL K G ITAEEA  SS+LNIVG+VGSIDNDFCGTDMTIGTDSALHR
Sbjct:   125 ADTFRSEWSDLLNDLQKDGKITAEEATKSSYLNIVGLVGSIDNDFCGTDMTIGTDSALHR 184

Query:   187 IMEIVDAITTTAQSHQRTFVLEVMGRHCGYLALVTALASGADWVFIPESPPEDDWEEHLC 246
             I+EIVDAITTTAQSHQRTFVLEVMGRHCGYLALVT+L+ GADWVFIPE PP+DDWEEHLC
Sbjct:   185 IVEIVDAITTTAQSHQRTFVLEVMGRHCGYLALVTSLSCGADWVFIPECPPDDDWEEHLC 244

Query:   247 RRLTETRNRGSRLNIIIVAEGAIDKHGKPITSEDIKSLVVKRLGYDTRVTILGHVQRGGT 306
             RRL+ETR RGSRLNIIIVAEGAIDK+GKPITSEDIK+LVVKRLGYDTRVT+LGHVQRGGT
Sbjct:   245 RRLSETRTRGSRLNIIIVAEGAIDKNGKPITSEDIKNLVVKRLGYDTRVTVLGHVQRGGT 304

Query:   307 PSAFDRILGSRMGVEAVMALLEGTPDTPACVVSLSGNQAIRLPLMECVQVTKDVTTAMNE 366
             PSAFDRILGSRMGVEAVMALLEGTPDTPACVVSLSGNQA+RLPLMECVQVTKDVT AM+E
Sbjct:   305 PSAFDRILGSRMGVEAVMALLEGTPDTPACVVSLSGNQAVRLPLMECVQVTKDVTKAMDE 364

Query:   367 GRFDESLKLRGRSFQNNWNVYKILAHVHPPTAKSG-YNLAVMNVGAPAAGMNAAVRSTVR 425
              RFDE++KLRGRSF NNW VYK+LAHV PP +K G + +AVMNVGAPAAGMNAAVRSTVR
Sbjct:   365 KRFDEAIKLRGRSFMNNWEVYKLLAHVRPPVSKGGLHTVAVMNVGAPAAGMNAAVRSTVR 424

Query:   426 IGLIHGHRMLAVHDGFEGLAEGKVEEIXXXXXXXXXXXXXXXXXXKRTLPKKYFEEISNT 485
             IGLI G+R+L VHDGFEGLA+G++EE                   KRTLPKK  E+IS  
Sbjct:   425 IGLIQGNRVLVVHDGFEGLAKGQIEEAGWSYVGGWTGQGGSKLGTKRTLPKKNLEQISAN 484

Query:   486 IANFNIHGLIVIGGFEAFTGSLELIEGRAKFEELCIPICVIPATVSNNIPGSDFSIGADT 545
             I  FNI GL++IGGFEA+TG LEL+EGR +F+ELCIP  VIPATVSNN+PGSDFSIGADT
Sbjct:   485 ITKFNIQGLVIIGGFEAYTGGLELMEGRKQFDELCIPFVVIPATVSNNVPGSDFSIGADT 544

Query:   546 ALNTITSTCDRIKQSAAGTKRRVFIIETMGGYCGYXXXXXXXXXXXXXXYIYEDPFTIRD 605
             ALNTI +TCDRIKQSAAGTKRRVFIIETMGGYCGY              YI+E+PFTIRD
Sbjct:   545 ALNTICTTCDRIKQSAAGTKRRVFIIETMGGYCGYLATMAGLAAGADAAYIFEEPFTIRD 604

Query:   606 LELNVSHLTEKMKTTVKRGLILRNEKCNENYTTEFIFNLYSEEGKGIFDTRKNVLGHMQQ 665
             L++NV HL +KMKTTVKRGL+LRNEKCNENYTT+FIFNLYSEEGKGIFD+RKNVLGHMQQ
Sbjct:   605 LQVNVEHLVQKMKTTVKRGLVLRNEKCNENYTTDFIFNLYSEEGKGIFDSRKNVLGHMQQ 664

Query:   666 GGSPTPFDRNFGTKMGAKAVAWMSGKIKECSRHGRIFANTADSACLLGMRRRALVFQPLI 725
             GGSPTPFDRNF TKMGAKA+ WMSGKIKE  R+GRIFANT DS C+LGMR+RALVFQP+ 
Sbjct:   665 GGSPTPFDRNFATKMGAKAMNWMSGKIKESYRNGRIFANTPDSGCVLGMRKRALVFQPVT 724

Query:   726 ELKQETDFEHRIPKTQWWLKLRPILKILAKYKIDLDTSETAHLEHITRKRVSGEGAL 782
             ELK +TDFEHRIPK QWWLKLRPILKILAKY+IDLDTS+ AHLEHI+RKR SGE A+
Sbjct:   725 ELKDQTDFEHRIPKEQWWLKLRPILKILAKYEIDLDTSDHAHLEHISRKR-SGEAAV 780