Human Gene PFKFB3 (uc001ije.3)
  Description: Homo sapiens 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3 (PFKFB3), transcript variant 1, mRNA.
RefSeq Summary (NM_004566): The protein encoded by this gene belongs to a family of bifunctional proteins that are involved in both the synthesis and degradation of fructose-2,6-bisphosphate, a regulatory molecule that controls glycolysis in eukaryotes. The encoded protein has a 6-phosphofructo-2-kinase activity that catalyzes the synthesis of fructose-2,6-bisphosphate (F2,6BP), and a fructose-2,6-biphosphatase activity that catalyzes the degradation of F2,6BP. This protein is required for cell cycle progression and prevention of apoptosis. It functions as a regulator of cyclin-dependent kinase 1, linking glucose metabolism to cell proliferation and survival in tumor cells. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2016].
Transcript (Including UTRs)
   Position: hg19 chr10:6,244,840-6,277,507 Size: 32,668 Total Exon Count: 15 Strand: +
Coding Region
   Position: hg19 chr10:6,245,224-6,274,905 Size: 29,682 Coding Exon Count: 15 

Page IndexSequence and LinksUniProtKB CommentsPrimersGenetic AssociationsMalaCards
CTDGene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein Structure
Other SpeciesGO AnnotationsmRNA DescriptionsPathwaysOther NamesModel Information
Methods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr10:6,244,840-6,277,507)mRNA (may differ from genome)Protein (520 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkH-INVHGNCHPRDLynxMalacards
MGIneXtProtOMIMPubMedReactomeTreefam
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: F263_HUMAN
DESCRIPTION: RecName: Full=6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 3; Short=6PF-2-K/Fru-2,6-P2ase 3; Short=PFK/FBPase 3; AltName: Full=6PF-2-K/Fru-2,6-P2ase brain/placenta-type isozyme; AltName: Full=Renal carcinoma antigen NY-REN-56; AltName: Full=iPFK-2; 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.
TISSUE SPECIFICITY: Ubiquitous.
PTM: Phosphorylation by AMPK stimulates activity.
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


-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): PFKFB3
CDC HuGE Published Literature: PFKFB3
Positive Disease Associations: Depressive Disorder, Major , Stroke
Related Studies:
  1. Depressive Disorder, Major
    , , . [PubMed 0]
  2. Stroke
    , , . [PubMed 0]

-  MalaCards Disease Associations
  MalaCards Gene Search: PFKFB3
Diseases sorted by gene-association score: colon adenocarcinoma (4)

-  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: 119.35 RPKM in Muscle - Skeletal
Total median expression: 1327.92 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 -194.50384-0.507 Picture PostScript Text
3' UTR -1002.342602-0.385 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:
PF00300 - Histidine phosphatase superfamily (branch 1)
PF01591 - 6-phosphofructo-2-kinase
PF13671 - AAA domain

SCOP Domains:
52540 - P-loop containing nucleoside triphosphate hydrolases
53254 - Phosphoglycerate mutase-like

Protein Data Bank (PDB) 3-D Structure
MuPIT help
2AXN - X-ray MuPIT 2DWO - X-ray MuPIT 2DWP - X-ray MuPIT 2I1V - X-ray MuPIT 3QPU - X-ray MuPIT 3QPV - X-ray MuPIT 3QPW - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on Q16875
FrontTopSide
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 orthologGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGD    
 Protein Sequence    
 Alignment    

-  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:0005524 ATP binding
GO:0016301 kinase activity
GO:0016740 transferase activity
GO:0016787 hydrolase activity

Biological Process:
GO:0006000 fructose metabolic process
GO:0006003 fructose 2,6-bisphosphate metabolic process
GO:0007420 brain development
GO:0008152 metabolic process
GO:0016310 phosphorylation
GO:0016311 dephosphorylation
GO:0045821 positive regulation of glycolytic process
GO:0046835 carbohydrate phosphorylation

Cellular Component:
GO:0005654 nucleoplasm
GO:0005829 cytosol


-  Descriptions from all associated GenBank mRNAs
  AK302518 - Homo sapiens cDNA FLJ56320 complete cds, highly similar to 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3.
AK131307 - Homo sapiens cDNA FLJ16284 fis, clone NTONG2008093, highly similar to 6PF-2-K/FRU-2,6-P2ASE BRAIN/PLACENTA-TYPE ISOZYME.
LP895193 - Sequence 57 from Patent EP3253886.
AK303039 - Homo sapiens cDNA FLJ54727 complete cds, highly similar to 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3.
BC037258 - Homo sapiens 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3, mRNA (cDNA clone IMAGE:4829925).
AK304450 - Homo sapiens cDNA FLJ54731 complete cds, highly similar to 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3.
L77662 - Homo sapiens 6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase mRNA, complete cds.
AK291263 - Homo sapiens cDNA FLJ75111 complete cds, highly similar to Homo sapiens 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3(PFKFB3), mRNA.
BC040482 - Homo sapiens 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3, mRNA (cDNA clone MGC:33102 IMAGE:5271907), complete cds.
AF056320 - Homo sapiens inducible 6-phosphofructo-2-kinase/fructose 2,6-bisphosphatase (IPFK-2) mRNA, complete cds.
JD474809 - Sequence 455833 from Patent EP1572962.
AF109735 - Homo sapiens ubiquitous 6-phosphofructo-2-kinase/fructose 2,6-bisphosphatase (PFKFB3) mRNA, complete cds.
JD389510 - Sequence 370534 from Patent EP1572962.
D49817 - Homo sapiens mRNA for 6-phosphofructo-2-kinase/fructose-2, 6-bisphosphatase, complete cds.
HQ257991 - Synthetic construct Homo sapiens clone IMAGE:100072300 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3 (PFKFB3), transcript variant 1 (PFKFB3) gene, encodes complete protein.
KJ891786 - Synthetic construct Homo sapiens clone ccsbBroadEn_01180 PFKFB3 gene, encodes complete protein.
KJ905257 - Synthetic construct Homo sapiens clone ccsbBroadEn_14744 PFKFB3 gene, encodes complete protein.
JD027144 - Sequence 8168 from Patent EP1572962.
JD029247 - Sequence 10271 from Patent EP1572962.
DQ590090 - Homo sapiens piRNA piR-57202, complete sequence.
AJ272438 - Homo sapiens partial mRNA for 6-phosphofructo-2-kinase/ fructose-2,6-bisphosphatase (PFKFB3 gene) alternative splice isoform 1.
AJ272439 - Homo sapiens partial mRNA for 6-phosphofructo-2-kinase/ fructose-2,6-bisphosphatase (PFKFB3 gene) alternative splice isoform 3.
AJ272440 - Homo sapiens partial mRNA for 6-phosphofructo-2-kinase/ fructose-2,6-bisphosphatase (PFKFB3 gene) alternative splice isoform 6.
AJ295747 - Homo sapiens partial mRNA for 6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase, splice isoform 2 (PFKFB3 gene).
BC042656 - Homo sapiens, clone IMAGE:4776440, mRNA.
AK094645 - Homo sapiens cDNA FLJ37326 fis, clone BRAMY2018308.
AL583908 - Homo sapiens mRNA; cDNA DKFZp761I0521 (from clone DKFZp761I0521).
JD144850 - Sequence 125874 from Patent EP1572962.
JD251795 - Sequence 232819 from Patent EP1572962.
JD163861 - Sequence 144885 from Patent EP1572962.
JD527206 - Sequence 508230 from Patent EP1572962.
JD105177 - Sequence 86201 from Patent EP1572962.
JD471705 - Sequence 452729 from Patent EP1572962.
DQ576093 - Homo sapiens piRNA piR-44205, complete sequence.
JD551140 - Sequence 532164 from Patent EP1572962.
JD430762 - Sequence 411786 from Patent EP1572962.
JD392346 - Sequence 373370 from Patent EP1572962.
JD393245 - Sequence 374269 from Patent EP1572962.
JD450334 - Sequence 431358 from Patent EP1572962.
JD265726 - Sequence 246750 from Patent EP1572962.
JD384054 - Sequence 365078 from Patent EP1572962.
JD201664 - Sequence 182688 from Patent EP1572962.
JD057985 - Sequence 39009 from Patent EP1572962.
JD361993 - Sequence 343017 from Patent EP1572962.
JD459803 - Sequence 440827 from Patent EP1572962.
JD131405 - Sequence 112429 from Patent EP1572962.
JD494576 - Sequence 475600 from Patent EP1572962.
JD205604 - Sequence 186628 from Patent EP1572962.
JD537663 - Sequence 518687 from Patent EP1572962.
JD194187 - Sequence 175211 from Patent EP1572962.
JD038415 - Sequence 19439 from Patent EP1572962.
JD547795 - Sequence 528819 from Patent EP1572962.
JD257546 - Sequence 238570 from Patent EP1572962.
JD250525 - Sequence 231549 from Patent EP1572962.
JD487086 - Sequence 468110 from Patent EP1572962.
JD399853 - Sequence 380877 from Patent EP1572962.
JD470132 - Sequence 451156 from Patent EP1572962.
JD374043 - Sequence 355067 from Patent EP1572962.
JD345759 - Sequence 326783 from Patent EP1572962.
JD533418 - Sequence 514442 from Patent EP1572962.
JD433399 - Sequence 414423 from Patent EP1572962.
JD196220 - Sequence 177244 from Patent EP1572962.
JD241138 - Sequence 222162 from Patent EP1572962.
JD554443 - Sequence 535467 from Patent EP1572962.
AJ227868 - Homo sapiens partial mRNA; ID YG40-4, ED166-8F, EE2-12B.
JD247938 - Sequence 228962 from Patent EP1572962.
JD190009 - Sequence 171033 from Patent EP1572962.
JD382209 - Sequence 363233 from Patent EP1572962.
MP067517 - Sequence 21 from Patent WO2018232288.

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

Reactome (by CSHL, EBI, and GO)

Protein Q16875 (Reactome details) participates in the following event(s):

R-HSA-71802 D-fructose 6-phosphate + ATP => D-fructose 2,6-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: F263_HUMAN, NM_004566, NP_004557, O43622, O75902, Q16875, Q5VX19
UCSC ID: uc001ije.3
RefSeq Accession: NM_004566
Protein: Q16875 (aka F263_HUMAN)
CCDS: CCDS7078.1, CCDS44353.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_004566.3
exon count: 15CDS single in 3' UTR: no RNA size: 4553
ORF size: 1563CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 3326.00frame shift in genome: no % Coverage: 99.91
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
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.