Human Gene PFKP (ENST00000381125.9_5) from GENCODE V47lift37
  Description: phosphofructokinase, platelet, transcript variant 1 (from RefSeq NM_002627.5)
Gencode Transcript: ENST00000381125.9_5
Gencode Gene: ENSG00000067057.19_17
Transcript (Including UTRs)
   Position: hg19 chr10:3,109,740-3,178,994 Size: 69,255 Total Exon Count: 22 Strand: +
Coding Region
   Position: hg19 chr10:3,109,788-3,178,771 Size: 68,984 Coding Exon Count: 22 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr10:3,109,740-3,178,994)mRNA (may differ from genome)Protein (784 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: K6PP_HUMAN
DESCRIPTION: RecName: Full=6-phosphofructokinase type C; EC=2.7.1.11; AltName: Full=6-phosphofructokinase, platelet type; AltName: Full=Phosphofructo-1-kinase isozyme C; Short=PFK-C; 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. A subunit composition with a higher proportion of platelet type subunits is found in platelets, brain and fibroblasts.
PTM: GlcNAcylation decreases enzyme activity (By similarity).
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.

-  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


-  MalaCards Disease Associations
  MalaCards Gene Search: PFKP
Diseases sorted by gene-association score: glycogen storage disease vii (8), clear cell renal cell carcinoma (7), miliary tuberculosis (6)

-  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: 59.10 RPKM in Testis
Total median expression: 1098.15 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 -14.1048-0.294 Picture PostScript Text
3' UTR -57.20223-0.257 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 Q01813
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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 orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
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 RGDEnsembl   
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000166 nucleotide binding
GO:0003824 catalytic activity
GO:0003872 6-phosphofructokinase activity
GO:0005524 ATP binding
GO:0016301 kinase activity
GO:0016740 transferase activity
GO:0042802 identical protein binding
GO:0044877 macromolecular complex binding
GO:0045296 cadherin binding
GO:0046872 metal ion binding

Biological Process:
GO:0006002 fructose 6-phosphate metabolic process
GO:0006096 glycolytic process
GO:0008152 metabolic process
GO:0016310 phosphorylation
GO:0061621 canonical glycolysis
GO:1990830 cellular response to leukemia inhibitory factor

Cellular Component:
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0016020 membrane
GO:0070062 extracellular exosome


-  Descriptions from all associated GenBank mRNAs
  BC029138 - Homo sapiens phosphofructokinase, platelet, mRNA (cDNA clone MGC:35337 IMAGE:5180268), complete cds.
AK291841 - Homo sapiens cDNA FLJ78683 complete cds, highly similar to Homo sapiens phosphofructokinase, platelet (PFKP), mRNA.
BC002536 - Homo sapiens phosphofructokinase, platelet, mRNA (cDNA clone MGC:2192 IMAGE:3140233), complete cds.
D25328 - Homo sapiens mRNA for platelet-type phosphofructokinase, complete cds.
AB385041 - Synthetic construct DNA, clone: pF1KB5106, Homo sapiens PFKP gene for 6-phosphofructokinase type C, complete cds, without stop codon, in Flexi system.
DQ895147 - Synthetic construct Homo sapiens clone IMAGE:100009607; FLH181809.01L; RZPDo839H05135D phosphofructokinase, platelet (PFKP) gene, encodes complete protein.
EU176319 - Synthetic construct Homo sapiens clone IMAGE:100006418; FLH181816.01X; RZPDo839A06251D phosphofructokinase, platelet (PFKP) gene, encodes complete protein.
CU678026 - Synthetic construct Homo sapiens gateway clone IMAGE:100020084 5' read PFKP mRNA.
KJ905260 - Synthetic construct Homo sapiens clone ccsbBroadEn_14747 PFKP gene, encodes complete protein.
KJ905857 - Synthetic construct Homo sapiens clone ccsbBroadEn_15527 PFKP gene, encodes complete protein.
KJ897323 - Synthetic construct Homo sapiens clone ccsbBroadEn_06717 PFKP gene, encodes complete protein.
AK092597 - Homo sapiens cDNA FLJ35278 fis, clone PROST2006579, highly similar to 6-phosphofructokinase type C (EC 2.7.1.11).
AX747622 - Sequence 1147 from Patent EP1308459.
AK308003 - Homo sapiens cDNA, FLJ97951.
JD141466 - Sequence 122490 from Patent EP1572962.
JD173732 - Sequence 154756 from Patent EP1572962.
AK308226 - Homo sapiens cDNA, FLJ98174.
AK129843 - Homo sapiens cDNA FLJ26333 fis, clone HRT02637, highly similar to 6-phosphofructokinase, type C (EC 2.7.1.11).
AK309692 - Homo sapiens cDNA, FLJ99733.
BC021698 - Homo sapiens, Similar to phosphofructokinase, platelet, clone IMAGE:4051323, mRNA, partial cds.
D21863 - Homo sapiens mRNA for phosphofructokinase-P, partial cds.
AK128373 - Homo sapiens cDNA FLJ46516 fis, clone THYMU3033402, highly similar to 6-phosphofructokinase, type C (EC 2.7.1.11).
M64784 - Human phosphofructokinase (PFK) mRNA, complete cds.
AK130767 - Homo sapiens cDNA FLJ27257 fis, clone SYN09693, highly similar to 6-phosphofructokinase, type C (EC 2.7.1.11).
BC043156 - Homo sapiens phosphofructokinase, platelet, mRNA (cDNA clone IMAGE:5286102), complete cds.
AK097692 - Homo sapiens cDNA FLJ40373 fis, clone TESTI2035003, highly similar to 6-phosphofructokinase type C (EC 2.7.1.11).
JD190804 - Sequence 171828 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  BioCyc Knowledge Library
PWY66-400 - glycolysis
PWY66-407 - superpathway of conversion of glucose to acetyl CoA and entry into the TCA cycle

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

Reactome (by CSHL, EBI, and GO)

Protein Q01813 (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: B3KS15, ENST00000381125.1, ENST00000381125.2, ENST00000381125.3, ENST00000381125.4, ENST00000381125.5, ENST00000381125.6, ENST00000381125.7, ENST00000381125.8, NM_002627, PFKAP_HUMAN, PFKF, Q01813, Q5VSR7, Q5VSR8, uc318qbb.1, uc318qbb.2
UCSC ID: ENST00000381125.9_5
RefSeq Accession: NM_002627.5
Protein: Q01813 (aka K6PP_HUMAN)

-  Gene Model Information
  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.