Human Gene PFKM (uc001rrd.3)
  Description: Homo sapiens phosphofructokinase, muscle (PFKM), transcript variant 4, mRNA.
RefSeq Summary (NM_001166688): 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 (Including UTRs)
   Position: hg19 chr12:48,513,013-48,540,187 Size: 27,175 Total Exon Count: 22 Strand: +
Coding Region
   Position: hg19 chr12:48,531,513-48,539,491 Size: 7,979 Coding Exon Count: 13 

Page IndexSequence and LinksUniProtKB CommentsPrimersGenetic AssociationsMalaCards
CTDGene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein Structure
Other SpeciesGO AnnotationsmRNA DescriptionsPathwaysOther NamesModel Information
Methods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr12:48,513,013-48,540,187)mRNA (may differ from genome)Protein (465 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
H-INVHGNCHPRDLynxMalacardsMGI
neXtProtOMIMPubMedReactomeUniProtKBWikipedia
BioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: K6PF_HUMAN
DESCRIPTION: RecName: Full=6-phosphofructokinase, muscle type; EC=2.7.1.11; AltName: Full=Phosphofructo-1-kinase isozyme A; Short=PFK-A; Short=Phosphofructokinase-M; AltName: Full=Phosphofructokinase 1; AltName: Full=Phosphohexokinase;
FUNCTION: Catalyzes the third step of glycolysis, the phosphorylation of fructose-6-phosphate (F6P) by ATP to generate fructose-1,6-bisphosphate (FBP) and ADP.
CATALYTIC ACTIVITY: ATP + D-fructose 6-phosphate = ADP + D- fructose 1,6-bisphosphate.
COFACTOR: Magnesium.
ENZYME REGULATION: Allosteric enzyme activated by ADP, AMP, or fructose bisphosphate and inhibited by ATP or citrate.
PATHWAY: Carbohydrate degradation; glycolysis; D-glyceraldehyde 3- phosphate and glycerone phosphate from D-glucose: step 3/4.
SUBUNIT: Tetramer. Muscle is M4, liver is L4, and red cell is M3L, M2L2, or ML3.
INTERACTION: Self; NbExp=2; IntAct=EBI-514788, EBI-514788; P17858:PFKL; NbExp=6; IntAct=EBI-514788, EBI-487243;
PTM: GlcNAcylation decreases enzyme activity (By similarity).
DISEASE: 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.
MISCELLANEOUS: In human PFK exists as a system of 3 types of subunits, PFKM (muscle), PFKL (liver) and PFKP (platelet) isoenzymes.
SIMILARITY: Belongs to the phosphofructokinase family. Two domains subfamily.
WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/PFKM";

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): PFKM
CDC HuGE Published Literature: PFKM

-  MalaCards Disease Associations
  MalaCards Gene Search: PFKM
Diseases sorted by gene-association score: glycogen storage disease vii* (1680), glycogen storage disease (16), mcardle disease (16), myoglobinuria (15), hyperuricemia (9), phosphoglycerate kinase deficiency (8), carbohydrate metabolic disorder (4), myopathy (4)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 255.77 RPKM in Muscle - Skeletal
Total median expression: 1396.31 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -504.401382-0.365 Picture PostScript Text
3' UTR -199.75696-0.287 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR009161 - 6-phosphofructokinase_euk
IPR022953 - Phosphofructokinase
IPR015912 - Phosphofructokinase_CS
IPR000023 - Phosphofructokinase_dom

Pfam Domains:
PF00365 - Phosphofructokinase

SCOP Domains:
53784 - Phosphofructokinase

ModBase Predicted Comparative 3D Structure on P08237
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGD    
 Protein Sequence    
 Alignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000166 nucleotide binding
GO:0003824 catalytic activity
GO:0003872 6-phosphofructokinase activity
GO:0005515 protein binding
GO:0005524 ATP binding
GO:0008022 protein C-terminus binding
GO:0008443 phosphofructokinase activity
GO:0016301 kinase activity
GO:0016740 transferase activity
GO:0019900 kinase binding
GO:0042802 identical protein binding
GO:0042803 protein homodimerization activity
GO:0046872 metal ion binding
GO:0070061 fructose binding

Biological Process:
GO:0005980 glycogen catabolic process
GO:0006002 fructose 6-phosphate metabolic process
GO:0006096 glycolytic process
GO:0008152 metabolic process
GO:0016310 phosphorylation
GO:0032024 positive regulation of insulin secretion
GO:0042593 glucose homeostasis
GO:0045944 positive regulation of transcription from RNA polymerase II promoter
GO:0046716 muscle cell cellular homeostasis
GO:0046835 carbohydrate phosphorylation
GO:0051259 protein oligomerization
GO:0061615 glycolytic process through fructose-6-phosphate
GO:0061621 canonical glycolysis
GO:0093001 glycolysis from storage polysaccharide through glucose-1-phosphate

Cellular Component:
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0005945 6-phosphofructokinase complex
GO:0016324 apical plasma membrane
GO:0097228 sperm principal piece


-  Descriptions from all associated GenBank mRNAs
  AK126229 - Homo sapiens cDNA FLJ44241 fis, clone THYMU3008436, highly similar to 6-phosphofructokinase, muscle type (EC 2.7.1.11).
AK126020 - Homo sapiens cDNA FLJ44032 fis, clone TESTI4028059, highly similar to 6-phosphofructokinase, muscle type (EC 2.7.1.11).
D21862 - Homo sapiens phosphofructokinase type C mRNA, 5' untranslated region.
M26066 - Human muscle phosphofructokinase (PFKM) mRNA, complete cds.
U24183 - Human phosphofructokinase (PFKM) mRNA, complete cds.
AK312284 - Homo sapiens cDNA, FLJ92585.
BC021203 - Homo sapiens phosphofructokinase, muscle, mRNA (cDNA clone MGC:13291 IMAGE:4100117), complete cds.
Y00698 - Human mRNA for muscle phosphofructokinase (E.C. 2.7.1.11).
BC000534 - Homo sapiens phosphofructokinase, muscle, mRNA (cDNA clone MGC:8699 IMAGE:2964710), complete cds.
BC012799 - Homo sapiens phosphofructokinase, muscle, mRNA (cDNA clone MGC:2270 IMAGE:2964710), complete cds.
BC013298 - Homo sapiens phosphofructokinase, muscle, mRNA (cDNA clone MGC:3934 IMAGE:2964710), complete cds.
CU674264 - Synthetic construct Homo sapiens gateway clone IMAGE:100017814 5' read PFKM mRNA.
CU676868 - Synthetic construct Homo sapiens gateway clone IMAGE:100017492 5' read PFKM mRNA.
AB463168 - Synthetic construct DNA, clone: pF1KB3233, Homo sapiens PFKM gene for phosphofructokinase, muscle, without stop codon, in Flexi system.
KJ905259 - Synthetic construct Homo sapiens clone ccsbBroadEn_14746 PFKM gene, encodes complete protein.
KJ905856 - Synthetic construct Homo sapiens clone ccsbBroadEn_15526 PFKM gene, encodes complete protein.
KJ897322 - Synthetic construct Homo sapiens clone ccsbBroadEn_06716 PFKM gene, encodes complete protein.
KR710319 - Synthetic construct Homo sapiens clone CCSBHm_00011473 PFKM (PFKM) mRNA, encodes complete protein.
KR710320 - Synthetic construct Homo sapiens clone CCSBHm_00011474 PFKM (PFKM) mRNA, encodes complete protein.
KU178251 - Homo sapiens phosphofructokinase muscle isoform 1 (PFKM) mRNA, partial cds.
KU178252 - Homo sapiens phosphofructokinase muscle isoform 2 (PFKM) mRNA, partial cds, alternatively spliced.
KU178253 - Homo sapiens phosphofructokinase muscle isoform 3 (PFKM) mRNA, partial cds, alternatively spliced.
KU178254 - Homo sapiens phosphofructokinase muscle isoform 4 (PFKM) mRNA, partial cds, alternatively spliced.
BC007798 - Homo sapiens phosphofructokinase, muscle, mRNA (cDNA clone IMAGE:4124137), partial cds.
AK308185 - Homo sapiens cDNA, FLJ98133.
AK303681 - Homo sapiens cDNA FLJ56281 complete cds, highly similar to 6-phosphofructokinase, muscle type (EC 2.7.1.11).
J05533 - Human muscle phosphofructokinase (PFKM) alternatively spliced mRNA, partial cds.
CR541698 - Homo sapiens full open reading frame cDNA clone RZPDo834G0528D for gene PFKM, phosphofructokinase, muscle; complete cds, without stopcodon.
JD545385 - Sequence 526409 from Patent EP1572962.
BX537703 - Homo sapiens mRNA; cDNA DKFZp779O048 (from clone DKFZp779O048).
S72312 - phosphofructokinase-M=2.7.1.11 {exon 22} [human, Ashkenazi Jewish patient, mRNA Partial Mutant, 60 nt].
JD527433 - Sequence 508457 from Patent EP1572962.
JD500884 - Sequence 481908 from Patent EP1572962.
JD526765 - Sequence 507789 from Patent EP1572962.
JD553727 - Sequence 534751 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa00010 - Glycolysis / Gluconeogenesis
hsa00030 - Pentose phosphate pathway
hsa00051 - Fructose and mannose metabolism
hsa00052 - Galactose metabolism
hsa01100 - Metabolic pathways

BioCarta from NCI Cancer Genome Anatomy Project
h_ptdinsPathway - Phosphoinositides and their downstream targets.

Reactome (by CSHL, EBI, and GO)

Protein P08237 (Reactome details) participates in the following event(s):

R-HSA-70467 D-fructose 6-phosphate + ATP => D-fructose 1,6-bisphosphate + ADP
R-HSA-70171 Glycolysis
R-HSA-70326 Glucose metabolism
R-HSA-71387 Metabolism of carbohydrates
R-HSA-1430728 Metabolism

-  Other Names for This Gene
  Alternate Gene Symbols: K6PF_HUMAN, NM_001166688, NP_001160160, P08237, PFKX, Q16814, Q16815, U24183
UCSC ID: uc001rrd.3
RefSeq Accession: NM_001166688
Protein: P08237 (aka K6PF_HUMAN)

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: U24183.1
exon count: 22CDS single in 3' UTR: no RNA size: 3067
ORF size: 1398CDS single in intron: no Alignment % ID: 99.87
txCdsPredict score: 1855.00frame shift in genome: no % Coverage: 99.87
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: yes # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.