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Aliases for PFKP Gene

Aliases for PFKP Gene

  • Phosphofructokinase, Platelet 2 3 5
  • Phosphofructokinase, Platelet Type 2 3
  • Phosphofructo-1-Kinase Isozyme C 3 4
  • 6-Phosphofructokinase Type C 3 4
  • Phosphohexokinase 3 4
  • EC 2.7.1.11 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 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

  • The PFKP gene encodes the platelet isoform of phosphofructokinase (PFK) (ATP:D-fructose-6-phosphate-1-phosphotransferase, EC 2.7.1.11). PFK catalyzes the irreversible conversion of fructose-6-phosphate to fructose-1,6-bisphosphate and is a key regulatory enzyme in glycolysis. The PFKP gene, which maps to chromosome 10p, is also expressed in fibroblasts. See also the muscle (PFKM; MIM 610681) and liver (PFKL; MIM 171860) isoforms of phosphofructokinase, which map to chromosomes 12q13 and 21q22, respectively. Vora (1981) [PubMed 6451249] determined that full tetrameric phophofructokinase enzyme expressed in platelets can be composed of subunits P4, P3L, and P2L2.[supplied by OMIM, Mar 2008]

GeneCards Summary for PFKP Gene

PFKP (Phosphofructokinase, Platelet) is a Protein Coding gene. Diseases associated with PFKP include Glycogen Storage Disease Vii. Among its related pathways are AMPK Enzyme Complex Pathway and Central carbon metabolism in cancer. 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
- Elite enhancer/Elite enhancer-gene association

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

Genomic Location for PFKP Gene

Chromosome:
10
Start:
3,066,333 bp from pter
End:
3,137,712 bp from pter
Size:
71,380 bases
Orientation:
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:
    Q01813-PFKAP_HUMAN
    Recommended name:
    ATP-dependent 6-phosphofructokinase, platelet type
    Protein Accession:
    Q01813
    Secondary Accessions:
    • B3KS15
    • Q5VSR7
    • Q5VSR8

    Protein attributes for PFKP Gene

    Size:
    784 amino acids
    Molecular mass:
    85596 Da
    Cofactor:
    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.
    Miscellaneous:
    • 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

    UniProtKB/Swiss-Prot:

neXtProt entry 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

Protein Domains for PFKP Gene

Graphical View of Domain Structure for InterPro Entry

Q01813

UniProtKB/Swiss-Prot:

PFKAP_HUMAN :
  • Belongs to the phosphofructokinase type A (PFKA) family. ATP-dependent PFK group I subfamily. Eukaryotic two domain clade "E" sub-subfamily.
Domain:
  • 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:0003872 6-phosphofructokinase activity TAS 1834056
GO:0005524 ATP binding IEA --
GO:0032403 protein complex binding IDA 23209302
GO:0046872 metal ion binding IEA --
GO:0098641 cadherin binding involved in cell-cell adhesion IDA 25468996
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

CRISPR 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

Cytoplasm.

Subcellular locations from

COMPARTMENTS
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:0061621 canonical glycolysis TAS --
GO:0098609 cell-cell adhesion IEA --
GO:0098779 mitophagy in response to mitochondrial depolarization IGI 22020285
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
ADP
  • 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:

CRISPR Products

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: - - - - - - - - -
SP3:
SP4: - - - -
SP5:
SP6:
SP7: -
SP8:

ExUns: 21a · 21b ^ 22 ^ 23 ^ 24 ^ 25 ^ 26a · 26b · 26c
SP1: -
SP2: -
SP3: -
SP4:
SP5:
SP6:
SP7:
SP8:

Relevant External Links for PFKP Gene

GeneLoc Exon Structure for
PFKP
ECgene alternative splicing isoforms for
PFKP

Expression for PFKP Gene

mRNA expression in normal human tissues 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:

PFKP

SOURCE GeneReport for Unigene cluster for PFKP Gene:

Hs.26010
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
chimpanzee
(Pan troglodytes)
Mammalia PFKP 35
  • 100 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PFKP 35
  • 81 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Pfkp 35
  • 88 (a)
OneToOne
Pfkp 16
Pfkp 34
  • 82.56 (n)
  • 88.95 (a)
oppossum
(Monodelphis domestica)
Mammalia PFKP 35
  • 78 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PFKP 35
  • 90 (a)
OneToOne
PFKP 34
  • 85.68 (n)
  • 92.97 (a)
cow
(Bos Taurus)
Mammalia PFKP 35
  • 88 (a)
OneToOne
PFKP 34
  • 84.21 (n)
  • 89.88 (a)
rat
(Rattus norvegicus)
Mammalia Pfkp 34
  • 83.12 (n)
  • 88.72 (a)
chicken
(Gallus gallus)
Aves PFKP 35
  • 85 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PFKP 35
  • 83 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia MGC68847 34
tropical clawed frog
(Silurana tropicalis)
Amphibia pfkp 34
  • 73.88 (n)
  • 82.92 (a)
MGC75635 34
zebrafish
(Danio rerio)
Actinopterygii pfkpb 35
  • 77 (a)
OneToMany
pfkpa 35
  • 78 (a)
OneToMany
pfkpb 34
  • 72.72 (n)
  • 81.59 (a)
Dr.12547 34
fruit fly
(Drosophila melanogaster)
Insecta Pfk 35
  • 48 (a)
OneToMany
Pfk 36
  • 53 (a)
worm
(Caenorhabditis elegans)
Secernentea pfk-2 35
  • 41 (a)
ManyToMany
pfk-1 35
  • 54 (a)
ManyToMany
Y71H10A.1b 36
  • 57 (a)
Y71H10A.1a 36
  • 56 (a)
C50F4.2 36
  • 40 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PFK2 35
  • 33 (a)
ManyToMany
PFK1 35
  • 34 (a)
ManyToMany
PFK1 34
  • 49.46 (n)
  • 45.1 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0A05544g 34
  • 50.43 (n)
  • 43.83 (a)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AEL208W 34
  • 52.26 (n)
  • 44.7 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 53 (a)
OneToMany
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

ENSEMBL:
Gene Tree for PFKP (if available)
TreeFam:
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
rs3740610 -- 3,133,667(-) AATCA(C/T)CTGAG intron-variant
rs3740611 -- 3,133,588(-) CTGGG(C/T)GTGGT intron-variant
rs3740612 -- 3,133,571(-) TGCCT(A/G)TACTG intron-variant
rs3740613 -- 3,133,349(-) GACAG(G/T)GGCTT intron-variant
rs730141 -- 3,124,917(+) TGTTG(C/T)TGGGG 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
PFKP

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

Disorders for PFKP Gene

MalaCards: The human disease database

(1) MalaCards diseases for PFKP Gene - From: DISEASES

Disorder Aliases PubMed IDs
glycogen storage disease vii
  • glycogen storage disease type vii
- 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)
PFKP
Human Genome Epidemiology (HuGE) Navigator
PFKP
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PFKP
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 65
  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 65
  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 65
  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 65
  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 65

Products for PFKP Gene

  • Addgene plasmids for PFKP

Sources for PFKP Gene

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