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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 2.7.1.11 4 63
  • ATP-PFK 3 4
  • PFK-C 3 4
  • PFK-P 3 4
  • PFKF 3 4
  • 6-Phosphofructokinase, Platelet Type 3
  • Phosphofructokinase, Platelet Type 3
  • Phosphofructokinase 1 3
  • Phosphofructokinase 2
  • Platelet Type 2
  • EC 2.7.1 63

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 Glycosaminoglycan metabolism and Glucose / Energy Metabolism. GO annotations related to this gene include protein complex binding and 6-phosphofructokinase activity. An important paralog of this gene is PFKL.

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 Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

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

ENSRs around PFKP on UCSC Golden Path with GeneCards custom track

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

Proteomics data for PFKP Gene at MOPED

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

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

Animal Model Products

No data available for Gene Ontology (GO) - Molecular Function , 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

No data available for Gene Ontology (GO) - Cellular Components for PFKP Gene

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:0005975 carbohydrate metabolic process TAS --
GO:0044281 small molecule metabolic process TAS --
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

(8) Drugs for PFKP Gene - From: HMDB

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

(10) Additional Compounds for PFKP Gene - From: HMDB and Novoseek

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:

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, MOPED, and MaxQB for PFKP Gene



SOURCE GeneReport for Unigene cluster for PFKP Gene Hs.26010

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

Protein tissue co-expression partners for PFKP Gene

- Elite partner

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
cow
(Bos Taurus)
Mammalia PFKP 35
  • 84.21 (n)
  • 89.88 (a)
PFKP 36
  • 88 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PFKP 35
  • 85.68 (n)
  • 92.97 (a)
PFKP 36
  • 90 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Pfkp 35
  • 82.56 (n)
  • 88.95 (a)
Pfkp 16
Pfkp 36
  • 88 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Pfkp 35
  • 83.12 (n)
  • 88.72 (a)
oppossum
(Monodelphis domestica)
Mammalia PFKP 36
  • 78 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PFKP 36
  • 81 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia PFKP 36
  • 100 (a)
OneToOne
chicken
(Gallus gallus)
Aves PFKP 36
  • 85 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PFKP 36
  • 83 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia MGC75635 35
pfkp 35
  • 73.88 (n)
  • 82.92 (a)
African clawed frog
(Xenopus laevis)
Amphibia MGC68847 35
zebrafish
(Danio rerio)
Actinopterygii Dr.12547 35
pfkpb 35
  • 72.72 (n)
  • 81.59 (a)
pfkpa 36
  • 78 (a)
OneToMany
pfkpb 36
  • 77 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta Pfk 37
  • 53 (a)
Pfk 36
  • 48 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea C50F4.2 37
  • 40 (a)
Y71H10A.1a 37
  • 56 (a)
Y71H10A.1b 37
  • 57 (a)
pfk-1 36
  • 54 (a)
ManyToMany
pfk-2 36
  • 41 (a)
ManyToMany
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AEL208W 35
  • 52.26 (n)
  • 44.7 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0A05544g 35
  • 50.43 (n)
  • 43.83 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PFK1 35
  • 49.46 (n)
  • 45.1 (a)
PFK1 36
  • 34 (a)
ManyToMany
PFK2 36
  • 33 (a)
ManyToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.3271 35
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 53 (a)
OneToMany
Species with no ortholog for PFKP:
  • 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
rs541 -- 3,136,723(-) AGCAC(A/C/G)CACTG utr-variant-3-prime
rs542 -- 3,136,716(-) ACTGG(A/G)GCAGG utr-variant-3-prime
rs543 -- 3,136,673(+) TTATT(A/G)ACATT utr-variant-3-prime
rs7673 -- 3,136,713(+) CCACC(A/T)GCTCC utr-variant-3-prime
rs9063 -- 3,136,623(+) TGTCT(C/G)TTTTT utr-variant-3-prime

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

Variant ID Type Subtype PubMed ID
nsv894751 CNV Gain 21882294
dgv212e1 CNV Complex 17122850
nsv428229 CNV Gain 18775914
nsv517630 CNV Gain+Loss 19592680
esv34832 CNV Gain 17911159
dgv63n27 CNV Gain 19166990
esv26266 CNV Gain+Loss 19812545
nsv470912 CNV Gain 18288195
nsv894753 CNV Gain 21882294
esv2730995 CNV Deletion 23290073
nsv894759 CNV Gain 21882294
nsv894760 CNV Loss 21882294
nsv894761 CNV Gain 21882294
nsv894762 CNV Gain 21882294
nsv470913 CNV Loss 18288195
nsv825215 CNV Gain 20364138
dgv593n71 CNV Loss 21882294
nsv8595 CNV Gain 18304495
esv2731128 CNV Deletion 23290073
esv2674301 CNV Deletion 23128226
nsv507530 CNV Insertion 20534489
esv2731140 CNV Deletion 23290073
esv2731151 CNV Deletion 23290073
esv1312745 CNV Deletion 17803354
dgv594n71 CNV Loss 21882294
nsv894767 CNV Gain 21882294
dgv595n71 CNV Loss 21882294
nsv894770 CNV Gain 21882294
esv2750891 CNV Loss 17911159
esv2731162 CNV Deletion 23290073
esv2731173 CNV Deletion 23290073
nsv516811 CNV Loss 19592680
dgv596n71 CNV Loss 21882294
dgv597n71 CNV Loss 21882294
nsv894776 CNV Loss 21882294
dgv97e201 CNV Deletion 23290073
dgv98e201 CNV Deletion 23290073
dgv99e201 CNV Deletion 23290073
esv2403236 CNV Deletion 18987734
esv2731262 CNV Deletion 23290073
esv2731273 CNV Deletion 23290073
nsv894777 CNV Loss 21882294
nsv894778 CNV Loss 21882294
nsv894779 CNV Loss 21882294
esv28525 CNV Loss 19812545
nsv8596 CNV Loss 18304495
nsv516917 CNV Loss 19592680
nsv525229 CNV Loss 19592680

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)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Relevant External Links 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. 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 23 67
  2. Characterization of the human P-type 6-phosphofructo-1-kinase gene promoter in neural cell lines. (PMID: 15716112) Hannemann A. … Bigl M. (Gene 2005) 3 23
  3. Cloning and chromosomal characterization of the 6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase-3 gene (PFKFB3, iPFK2). (PMID: 12963966) Mahlknecht U. … Bucala R. (Int. J. Oncol. 2003) 3 23
  4. 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 23
  5. Regional chromosomal assignment of the human platelet phosphofructokinase gene to 10p15. (PMID: 1533608) Morrison N. … Connor J.M. (Hum. Genet. 1992) 3 23

Products for PFKP Gene

  • Addgene plasmids for PFKP

Sources for PFKP Gene

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