Human Gene PFKFB1 (ENST00000375006.8) from GENCODE V44
  Description: Homo sapiens 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 (PFKFB1), transcript variant 4, non-coding RNA. (from RefSeq NR_073450)
RefSeq Summary (NM_002625): This gene encodes a member of the family of bifunctional 6-phosphofructo-2-kinase:fructose-2,6-biphosphatase enzymes. The enzyme forms a homodimer that catalyzes both the synthesis and degradation of fructose-2,6-biphosphate using independent catalytic domains. Fructose-2,6-biphosphate is an activator of the glycolysis pathway and an inhibitor of the gluconeogenesis pathway. Consequently, regulating fructose-2,6-biphosphate levels through the activity of this enzyme is thought to regulate glucose homeostasis. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Nov 2012].
Gencode Transcript: ENST00000375006.8
Gencode Gene: ENSG00000158571.11
Transcript (Including UTRs)
   Position: hg38 chrX:54,932,961-54,994,188 Size: 61,228 Total Exon Count: 14 Strand: -
Coding Region
   Position: hg38 chrX:54,933,403-54,994,007 Size: 60,605 Coding Exon Count: 14 

Page IndexSequence and LinksUniProtKB CommentsPrimersCTDRNA-Seq Expression
Microarray ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
PathwaysOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chrX:54,932,961-54,994,188)mRNA (may differ from genome)Protein (471 aa)
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OMIMPubMedReactomeUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: F261_HUMAN
DESCRIPTION: RecName: Full=6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 1; Short=6PF-2-K/Fru-2,6-P2ase 1; Short=PFK/FBPase 1; AltName: Full=6PF-2-K/Fru-2,6-P2ase liver isozyme; Includes: RecName: Full=6-phosphofructo-2-kinase; EC=2.7.1.105; Includes: RecName: Full=Fructose-2,6-bisphosphatase; EC=3.1.3.46;
FUNCTION: Synthesis and degradation of fructose 2,6-bisphosphate.
CATALYTIC ACTIVITY: Beta-D-fructose 2,6-bisphosphate + H(2)O = D- fructose 6-phosphate + phosphate.
CATALYTIC ACTIVITY: ATP + D-fructose 6-phosphate = ADP + beta-D- fructose 2,6-bisphosphate.
ENZYME REGULATION: Phosphorylation results in inhibition of the kinase activity.
SUBUNIT: Homodimer.
INTERACTION: P35557:GCK; NbExp=2; IntAct=EBI-709807, EBI-709928;
TISSUE SPECIFICITY: Liver.
SIMILARITY: In the C-terminal section; belongs to the phosphoglycerate mutase family.

-  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


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

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 16.22 RPKM in Liver
Total median expression: 56.65 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 -51.80181-0.286 Picture PostScript Text
3' UTR -143.00442-0.324 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
IPR003094 - 6Pfruct_kin
IPR013079 - 6Phosfructo_kin
IPR016260 - Bifunct_6PFK/fruc_bisP_Ptase
IPR013078 - His_Pase_superF_clade-1
IPR001345 - PG/BPGM_mutase_AS

Pfam Domains:
PF01591 - 6-phosphofructo-2-kinase
PF00300 - Histidine phosphatase superfamily (branch 1)

Protein Data Bank (PDB) 3-D Structure
MuPIT help
1K6M - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on P16118
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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
Genome BrowserGenome BrowserGenome BrowserGenome BrowserNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGDEnsemblEnsembl  
Protein SequenceProtein SequenceProtein SequenceProtein Sequence  
AlignmentAlignmentAlignmentAlignment  

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000166 nucleotide binding
GO:0003824 catalytic activity
GO:0003873 6-phosphofructo-2-kinase activity
GO:0004331 fructose-2,6-bisphosphate 2-phosphatase activity
GO:0005515 protein binding
GO:0005524 ATP binding
GO:0016301 kinase activity
GO:0016740 transferase activity
GO:0016787 hydrolase activity
GO:0019900 kinase binding
GO:0042802 identical protein binding
GO:0070095 fructose-6-phosphate binding

Biological Process:
GO:0006000 fructose metabolic process
GO:0006003 fructose 2,6-bisphosphate metabolic process
GO:0006094 gluconeogenesis
GO:0006096 glycolytic process
GO:0008152 metabolic process
GO:0016310 phosphorylation
GO:0016311 dephosphorylation
GO:0031100 animal organ regeneration
GO:0032868 response to insulin
GO:0033133 positive regulation of glucokinase activity
GO:0033762 response to glucagon
GO:0042594 response to starvation
GO:0045820 negative regulation of glycolytic process
GO:0045821 positive regulation of glycolytic process
GO:0046835 carbohydrate phosphorylation
GO:0051384 response to glucocorticoid
GO:0051591 response to cAMP

Cellular Component:
GO:0005829 cytosol
GO:0043540 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase complex


-  Descriptions from all associated GenBank mRNAs
  AK300724 - Homo sapiens cDNA FLJ56883 complete cds, highly similar to 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1.
X52638 - Human mRNA for 6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase (EC 2.7.1.105, EC 3.1.3.46).
BC096078 - Homo sapiens 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1, mRNA (cDNA clone MGC:116716 IMAGE:40000711), complete cds.
BC096077 - Homo sapiens 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1, mRNA (cDNA clone MGC:116715 IMAGE:40000710), complete cds.
BC096079 - Homo sapiens 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1, mRNA (cDNA clone MGC:116717 IMAGE:40000713), complete cds.
JD054361 - Sequence 35385 from Patent EP1572962.
JD131579 - Sequence 112603 from Patent EP1572962.
M19938 - Human fructose-6-phosphate,2-kinase:fructose-2,6-bisphosphatase mRNA, complete cds.
JD154004 - Sequence 135028 from Patent EP1572962.
JD203089 - Sequence 184113 from Patent EP1572962.
JD253809 - Sequence 234833 from Patent EP1572962.
JQ425694 - Homo sapiens 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 splice variant 3 (PFKFB1) mRNA, complete cds, alternatively spliced.
JQ425695 - Homo sapiens 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 splice variant 2 (PFKFB1) mRNA, complete cds, alternatively spliced.
AK314089 - Homo sapiens cDNA, FLJ94765, highly similar to Homo sapiens 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 (PFKFB1), mRNA.
KJ897320 - Synthetic construct Homo sapiens clone ccsbBroadEn_06714 PFKFB1 gene, encodes complete protein.
KJ901634 - Synthetic construct Homo sapiens clone ccsbBroadEn_11028 PFKFB1 gene, encodes complete protein.
JD224554 - Sequence 205578 from Patent EP1572962.
JD242509 - Sequence 223533 from Patent EP1572962.
JD225725 - Sequence 206749 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa00051 - Fructose and mannose metabolism

BioCyc Knowledge Library
PWY66-423 - fructose 2,6-bisphosphate biosynthesis

Reactome (by CSHL, EBI, and GO)

Protein P16118 (Reactome details) participates in the following event(s):

R-HSA-163773 Phosphorylation of PF2K-Pase by PKA catalytic subunit
R-HSA-163750 Dephosphorylation of phosphoPFKFB1 by PP2A complex
R-HSA-70262 Fructose 2,6-bisphosphate is hydrolyzed to form fructose-6-phosphate and orthophosphate
R-HSA-71802 D-fructose 6-phosphate + ATP => D-fructose 2,6-bisphosphate + ADP
R-HSA-70171 Glycolysis
R-HSA-163358 PKA-mediated phosphorylation of key metabolic factors
R-HSA-163767 PP2A-mediated dephosphorylation of key metabolic factors
R-HSA-70326 Glucose metabolism
R-HSA-163685 Energy Metabolism
R-HSA-71387 Metabolism of carbohydrates
R-HSA-1430728 Metabolism

-  Other Names for This Gene
  Alternate Gene Symbols: B2RA88, ENST00000375006.1, ENST00000375006.2, ENST00000375006.3, ENST00000375006.4, ENST00000375006.5, ENST00000375006.6, ENST00000375006.7, F261_HUMAN, F6PK, NR_073450, P16118, PFRX, Q5JXS5, Q99951, uc004dty.1, uc004dty.2, uc004dty.3, uc004dty.4
UCSC ID: ENST00000375006.8
RefSeq Accession: NM_002625
Protein: P16118 (aka F261_HUMAN)
CCDS: CCDS14364.1

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