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Aliases for PFKP Gene

Aliases for PFKP Gene

  • Phosphofructokinase, Platelet 2 3 5
  • Phosphofructo-1-Kinase Isozyme C 3 4
  • 6-Phosphofructokinase Type C 3 4
  • Phosphohexokinase 3 4
  • EC 4 61
  • ATP-PFK 3 4
  • PFK-C 3 4
  • PFK-P 3 4
  • PFKF 3 4
  • ATP-Dependent 6-Phosphofructokinase, Platelet Type 3
  • 6-Phosphofructokinase, Platelet Type 3
  • Phosphofructokinase, Platelet Type 2
  • Phosphofructokinase 1 3
  • EC 2.7.1 61

External Ids for PFKP Gene

Previous GeneCards Identifiers for PFKP Gene

  • GC10P003157
  • GC10P003069
  • GC10P003063
  • GC10P003099
  • GC10P003045
  • GC10P003109

Summaries for PFKP Gene

Entrez Gene Summary for PFKP Gene

  • This gene encodes a member of the phosphofructokinase A protein family. The encoded enzyme is the platelet-specific isoform of phosphofructokinase and plays a key role in glycolysis regulation. This gene may play a role in metabolic reprogramming in some cancers, including clear cell renal cell carcinomas, and cancer of the bladder, breast, and lung. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]

GeneCards Summary for PFKP Gene

PFKP (Phosphofructokinase, Platelet) is a Protein Coding gene. Diseases associated with PFKP include Glycogen Storage Disease Vii and Clear Cell Renal Cell Carcinoma. Among its related pathways are Metabolism and Glucose metabolism. GO annotations related to this gene include protein complex binding and 6-phosphofructokinase activity. An important paralog of this gene is PFKM.

UniProtKB/Swiss-Prot for PFKP Gene

  • Catalyzes the phosphorylation of D-fructose 6-phosphate to fructose 1,6-bisphosphate by ATP, the first committing step of glycolysis.

Gene Wiki entry for PFKP Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PFKP Gene

Genomics for PFKP Gene

Regulatory Elements for PFKP Gene

Enhancers for PFKP Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH10F003089 1.5 FANTOM5 Ensembl ENCODE 20.4 +27.5 27546 8.1 PKNOX1 ARNT SIN3A FOS ZHX2 JUNB SMARCB1 SMARCA4 NBN HMBOX1 PFKP PITRM1 PITRM1-AS1 GC10P003095 LOC101927824
GH10F003102 1.3 FANTOM5 ENCODE 13.9 +36.8 36834 0.9 POLR2A HNF4G PFKP PITRM1-AS1 PITRM1 GC10P003101 PIR36518
GH10F003106 0.8 Ensembl ENCODE 11.2 +41.5 41511 2.1 BHLHE40 SIN3A MNT NR3C1 JUND POLR2A FOS NFE2L2 PFKP PITRM1 GC10P003101 PIR36518
GH10F003098 0.9 Ensembl ENCODE 9.9 +33.0 33046 1.4 HDGF CEBPB CEBPG ZFHX2 POLR2A TARDBP CEBPA FOS PRDM1 EGR2 PITRM1-AS1 PITRM1 PFKP GC10P003095 GC10P003101
GH10F003066 0.7 ENCODE 9.5 +0.2 211 0.5 NRF1 MNT EZH2 PFKP LOC101927824
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around PFKP on UCSC Golden Path with GeneCards custom track

Promoters for PFKP Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000349660 1767 3001 HDGF ZNF133 SIN3A GLI4 ZNF121 GLIS2 KLF7 ZNF263 SP3 TSHZ1

Genomic Location for PFKP Gene

3,066,333 bp from pter
3,137,712 bp from pter
71,380 bases
Plus strand

Genomic View for PFKP Gene

Genes around PFKP on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PFKP Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PFKP Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PFKP Gene

Proteins for PFKP Gene

  • Protein details for PFKP Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    ATP-dependent 6-phosphofructokinase, platelet type
    Protein Accession:
    Secondary Accessions:
    • B3KS15
    • Q5VSR7
    • Q5VSR8

    Protein attributes for PFKP Gene

    784 amino acids
    Molecular mass:
    85596 Da
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420;
    Quaternary structure:
    • Homo- and heterotetramers. Muscle is M4, liver is L4, and red cell is M3L, M2L2, or ML3. A subunit composition with a higher proportion of platelet type subunits is found in platelets, brain and fibroblasts.
    • In human PFK exists as a system of 3 types of subunits, PFKM (muscle), PFKL (liver) and PFKP (platelet) isoenzymes.

    Three dimensional structures from OCA and Proteopedia for PFKP Gene

    Alternative splice isoforms for PFKP Gene


neXtProt entry for PFKP Gene

Selected DME Specific Peptides for PFKP Gene


Post-translational modifications for PFKP Gene

  • GlcNAcylation decreases enzyme activity.
  • Ubiquitination at Lys 15, Lys 25, Lys 109, Lys 139, Lys 289, Lys 395, Lys 400, Lys 408, Lys 459, Lys 480, Lys 486, Lys 666, Lys 688, Lys 759, and Lys 765
  • Glycosylation at Ser 540
  • Modification sites at PhosphoSitePlus

Domains & Families for PFKP Gene

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the phosphofructokinase type A (PFKA) family. ATP-dependent PFK group I subfamily. Eukaryotic two domain clade "E" sub-subfamily.
  • Belongs to the phosphofructokinase type A (PFKA) family. ATP-dependent PFK group I subfamily. Eukaryotic two domain clade "E" sub-subfamily.
genes like me logo Genes that share domains with PFKP: view

No data available for Gene Families for PFKP Gene

Function for PFKP Gene

Molecular function for PFKP Gene

GENATLAS Biochemistry:
6-phosphofructo-1-kinase,expressed in platelet,fructose metabolism,energy pathway
UniProtKB/Swiss-Prot CatalyticActivity:
ATP + D-fructose 6-phosphate = ADP + D-fructose 1,6-bisphosphate.
UniProtKB/Swiss-Prot EnzymeRegulation:
Allosterically activated by ADP, AMP, or fructose 2,6-bisphosphate, and allosterically inhibited by ATP or citrate.
UniProtKB/Swiss-Prot Function:
Catalyzes the phosphorylation of D-fructose 6-phosphate to fructose 1,6-bisphosphate by ATP, the first committing step of glycolysis.

Enzyme Numbers (IUBMB) for PFKP Gene

Gene Ontology (GO) - Molecular Function for PFKP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003824 catalytic activity IEA --
GO:0003872 6-phosphofructokinase activity IEA,TAS 1834056
GO:0005524 ATP binding IEA --
GO:0016301 kinase activity IEA --
GO:0016740 transferase activity IEA --
genes like me logo Genes that share ontologies with PFKP: view
genes like me logo Genes that share phenotypes with PFKP: view

Animal Model Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for PFKP

Flow Cytometry Products

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for PFKP Gene

Localization for PFKP Gene

Subcellular locations from UniProtKB/Swiss-Prot for PFKP Gene


Subcellular locations from

Jensen Localization Image for PFKP Gene COMPARTMENTS Subcellular localization image for PFKP gene
Compartment Confidence
cytosol 5
extracellular 5
nucleus 5
mitochondrion 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for PFKP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 21630459
GO:0005737 cytoplasm IDA 25468996
GO:0005829 cytosol TAS --
GO:0005913 cell-cell adherens junction IDA 25468996
GO:0016020 membrane IDA 19946888
genes like me logo Genes that share ontologies with PFKP: view

Pathways & Interactions for PFKP Gene

genes like me logo Genes that share pathways with PFKP: view

UniProtKB/Swiss-Prot Q01813-PFKAP_HUMAN

  • Pathway: Carbohydrate degradation; glycolysis; D-glyceraldehyde 3-phosphate and glycerone phosphate from D-glucose: step 3/4.

Gene Ontology (GO) - Biological Process for PFKP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006002 fructose 6-phosphate metabolic process IEA --
GO:0006096 glycolytic process IEA --
GO:0008152 metabolic process IEA --
GO:0016310 phosphorylation IEA --
GO:0061615 glycolytic process through fructose-6-phosphate IEA --
genes like me logo Genes that share ontologies with PFKP: view

No data available for SIGNOR curated interactions for PFKP Gene

Drugs & Compounds for PFKP Gene

(9) Drugs for PFKP Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Adenosine triphosphate Approved Nutra 0
CDP Experimental Pharma 0
Cytidine triphosphate Experimental Pharma 0
Guanosine diphosphate Experimental Pharma 0
phosphoenolpyruvate Experimental Pharma 0

(9) Additional Compounds for PFKP Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
  • Adenosindiphosphorsaeure
  • Adenosine 5'-pyrophosphate
  • Adenosine diphosphate
  • Adenosine pyrophosphate
  • Adenosine-5'-diphosphate
Full agonist, Agonist 58-64-0
beta-D-Fructose 1,6-bisphosphate
Beta-D-Fructose 6-phosphate
  • beta-D-Fructose 6-phosphate
D-Tagatose 1,6-bisphosphate
  • 1,6-Di-O-phosphono-D-tagatofuranose
  • D-tagatofuranose 1,6-bisphosphate
D-Tagatose 6-phosphate
  • 6-O-Phosphono-D-tagatofuranose
  • D-Tagatofuranose 6-(dihydrogen phosphate)
genes like me logo Genes that share compounds with PFKP: view

Transcripts for PFKP Gene

Unigene Clusters for PFKP Gene

Phosphofructokinase, platelet:
Representative Sequences:

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for PFKP

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for PFKP Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9a · 9b · 9c · 9d ^ 10 ^ 11 ^ 12a · 12b · 12c ^ 13 ^ 14 ^ 15 ^ 16a · 16b ^ 17 ^ 18 ^ 19 ^ 20 ^
SP1: - - - - - -
SP2: - - - - - - - - -
SP4: - - - -
SP7: -

ExUns: 21a · 21b ^ 22 ^ 23 ^ 24 ^ 25 ^ 26a · 26b · 26c
SP1: -
SP2: -
SP3: -

Relevant External Links for PFKP Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for PFKP Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for PFKP Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for PFKP Gene

This gene is overexpressed in Fetal heart (9.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for PFKP Gene

Protein tissue co-expression partners for PFKP Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of PFKP Gene:


SOURCE GeneReport for Unigene cluster for PFKP Gene:

genes like me logo Genes that share expression patterns with PFKP: view

Primer Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for PFKP Gene

Orthologs for PFKP Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for PFKP Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia PFKP 35
  • 100 (a)
(Canis familiaris)
Mammalia PFKP 34 35
  • 85.68 (n)
(Bos Taurus)
Mammalia PFKP 34 35
  • 84.21 (n)
(Rattus norvegicus)
Mammalia Pfkp 34
  • 83.12 (n)
(Mus musculus)
Mammalia Pfkp 34 16 35
  • 82.56 (n)
(Ornithorhynchus anatinus)
Mammalia PFKP 35
  • 81 (a)
(Monodelphis domestica)
Mammalia PFKP 35
  • 78 (a)
(Gallus gallus)
Aves PFKP 35
  • 85 (a)
(Anolis carolinensis)
Reptilia PFKP 35
  • 83 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia pfkp 34
  • 73.88 (n)
MGC75635 34
African clawed frog
(Xenopus laevis)
Amphibia MGC68847 34
(Danio rerio)
Actinopterygii pfkpa 35
  • 78 (a)
pfkpb 34 35
  • 72.72 (n)
Dr.12547 34
fruit fly
(Drosophila melanogaster)
Insecta Pfk 36 35
  • 53 (a)
(Caenorhabditis elegans)
Secernentea Y71H10A.1b 36
  • 57 (a)
Y71H10A.1a 36
  • 56 (a)
pfk-1 35
  • 54 (a)
pfk-2 35
  • 41 (a)
C50F4.2 36
  • 40 (a)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AEL208W 34
  • 52.26 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0A05544g 34
  • 50.43 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PFK1 34 35
  • 49.46 (n)
PFK2 35
  • 33 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 53 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.3271 34
Species where no ortholog for PFKP was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for PFKP Gene

Gene Tree for PFKP (if available)
Gene Tree for PFKP (if available)

Paralogs for PFKP Gene

Paralogs for PFKP Gene

genes like me logo Genes that share paralogs with PFKP: view

Variants for PFKP Gene

Sequence variations from dbSNP and Humsavar for PFKP Gene

SNP ID Clin Chr 10 pos Sequence Context AA Info Type
rs869025258 Likely benign 3,105,467(+) GAAGG(-/G)CTGGG reference, frameshift-variant
rs10082547 -- 3,109,640(+) GGCTT(A/G)TGTTC intron-variant
rs10430751 -- 3,091,393(+) TGCCA(C/G)TGTGT intron-variant
rs10430770 -- 3,131,535(+) CACTG(C/T)AACTT intron-variant
rs10458790 -- 3,087,896(+) GGGTT(A/C)TATAA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for PFKP Gene

Variant ID Type Subtype PubMed ID
dgv343n106 CNV deletion 24896259
dgv63n27 CNV gain 19166990
dgv660n100 CNV gain 25217958
dgv85e201 CNV deletion 23290073
dgv86e201 CNV deletion 23290073
dgv87e201 CNV deletion 23290073
dgv932n54 CNV gain 21841781
dgv933n54 CNV gain 21841781
dgv935n54 CNV loss 21841781
dgv936n54 CNV gain 21841781
dgv937n54 CNV loss 21841781
dgv938n54 CNV gain+loss 21841781
dgv939n54 CNV gain 21841781
dgv940n54 CNV loss 21841781
dgv941n54 CNV gain 21841781
dgv942n54 CNV loss 21841781
dgv943n54 CNV loss 21841781
esv1312745 CNV deletion 17803354
esv2403236 CNV deletion 18987734
esv26266 CNV gain+loss 19812545
esv2674301 CNV deletion 23128226
esv2730995 CNV deletion 23290073
esv2731128 CNV deletion 23290073
esv2731140 CNV deletion 23290073
esv2731151 CNV deletion 23290073
esv2731162 CNV deletion 23290073
esv2731173 CNV deletion 23290073
esv2731262 CNV deletion 23290073
esv2731273 CNV deletion 23290073
esv2750891 CNV loss 17911159
esv2759726 CNV gain 17122850
esv2760124 CNV gain 21179565
esv28525 CNV loss 19812545
esv3447223 CNV duplication 20981092
esv34832 CNV gain 17911159
esv3545772 CNV deletion 23714750
esv3545773 CNV deletion 23714750
esv3578589 CNV loss 25503493
esv3622141 CNV gain 21293372
esv3622161 CNV loss 21293372
esv3622163 CNV loss 21293372
esv3622164 CNV loss 21293372
esv3622165 CNV gain 21293372
esv3622166 CNV loss 21293372
nsv1039231 CNV loss 25217958
nsv1044106 CNV loss 25217958
nsv1069005 CNV deletion 25765185
nsv1069006 CNV deletion 25765185
nsv1069007 CNV deletion 25765185
nsv1118157 CNV deletion 24896259
nsv1121450 CNV deletion 24896259
nsv1135767 CNV deletion 24896259
nsv1140926 CNV deletion 24896259
nsv1151706 CNV deletion 26484159
nsv428229 CNV gain 18775914
nsv470912 CNV gain 18288195
nsv470913 CNV loss 18288195
nsv507530 OTHER sequence alteration 20534489
nsv516811 CNV loss 19592680
nsv516917 CNV loss 19592680
nsv517630 CNV gain+loss 19592680
nsv525229 CNV loss 19592680
nsv549810 CNV gain 21841781
nsv549814 CNV loss 21841781
nsv549815 CNV gain 21841781
nsv549816 CNV gain 21841781
nsv549817 CNV gain 21841781
nsv549818 CNV gain 21841781
nsv549819 CNV loss 21841781
nsv549827 CNV gain 21841781
nsv549848 CNV gain+loss 21841781
nsv549850 CNV loss 21841781
nsv549852 CNV loss 21841781
nsv825215 CNV gain 20364138
nsv8595 CNV gain 18304495
nsv8596 CNV loss 18304495
nsv951237 CNV deletion 24416366
nsv951238 CNV deletion 24416366
nsv956151 CNV deletion 24416366
nsv958313 CNV deletion 24416366

Variation tolerance for PFKP Gene

Residual Variation Intolerance Score: 16.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.58; 44.82% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PFKP Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PFKP Gene

Disorders for PFKP Gene

MalaCards: The human disease database

(2) MalaCards diseases for PFKP Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
glycogen storage disease vii
  • glycogen storage disease type vii
clear cell renal cell carcinoma
  • clear cell rcc
- elite association - COSMIC cancer census association via MalaCards
Search PFKP in MalaCards View complete list of genes associated with diseases

Relevant External Links for PFKP

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with PFKP: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PFKP Gene

Publications for PFKP Gene

  1. Cloning of a complete protein-coding sequence of human platelet-type phosphofructokinase isozyme from pancreatic islet. (PMID: 8117307) Eto K. … Kadowaki T. (Biochem. Biophys. Res. Commun. 1994) 3 4 22 64
  2. Isolation and sequence of a cDNA encoding human platelet phosphofructokinase. (PMID: 1834056) Simpson C.J. … Fothergill-Gilmore L.A. (Biochem. Biophys. Res. Commun. 1991) 3 4 22 64
  3. Physiogenomic analysis of statin-treated patients: domain-specific counter effects within the ACACB gene on low-density lipoprotein cholesterol? (PMID: 20602615) RuaA+o G. … Wu A.H. (Pharmacogenomics 2010) 3 46 64
  4. Obesity and diabetes genes are associated with being born small for gestational age: results from the Auckland Birthweight Collaborative study. (PMID: 20712903) Morgan A.R. … Mitchell E.A. (BMC Med. Genet. 2010) 3 46 64
  5. Physiogenomic comparison of edema and BMI in patients receiving rosiglitazone or pioglitazone. (PMID: 18996102) RuaA+o G. … Hanks S. (Clin. Chim. Acta 2009) 3 46 64

Products for PFKP Gene

  • Addgene plasmids for PFKP

Sources for PFKP Gene

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