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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]
PFKFB3 (6-Phosphofructo-2-Kinase/Fructose-2,6-Biphosphatase 3) is a Protein Coding gene. Diseases associated with PFKFB3 include Colon Adenocarcinoma and Schizophrenia. Among its related pathways are HIF-1-alpha transcription factor network and Glycosaminoglycan metabolism. Gene Ontology (GO) annotations related to this gene include 6-phosphofructo-2-kinase activity and fructose-2,6-bisphosphate 2-phosphatase activity. An important paralog of this gene is PFKFB2.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000166 | nucleotide binding | IEA | -- |
GO:0003824 | catalytic activity | IEA | -- |
GO:0003873 | 6-phosphofructo-2-kinase activity | IEA,NAS | 8830046 |
GO:0004331 | fructose-2,6-bisphosphate 2-phosphatase activity | IEA,IBA | 21873635 |
GO:0005515 | protein binding | IPI | 32296183 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005654 | nucleoplasm | IDA | -- |
GO:0005829 | cytosol | TAS | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | AMP-activated Protein Kinase (AMPK) Signaling | ||
2 | Fructose and mannose metabolism | ||
3 | Metabolism |
.40
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4 | Glucose metabolism |
.52
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5 | Glucose / Energy Metabolism |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006000 | fructose metabolic process | IEA | -- |
GO:0006003 | fructose 2,6-bisphosphate metabolic process | IEA,IBA | 21873635 |
GO:0007420 | brain development | IEA | -- |
GO:0008152 | metabolic process | IEA | -- |
GO:0016310 | phosphorylation | IEA | -- |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
ADP |
|
58-64-0 | ||||
2-Phosphoglyceric acid |
|
2553-59-5 |
|
|||
Beta-D-Fructose 6-phosphate |
|
|
||||
D-Fructose 2,6-bisphosphate |
|
79082-92-1 |
|
Compound | Action | Cas Number |
---|---|---|
PFK-015 | PFKFB3 inhibitor, potent and selective | 4382-63-2 |
ExUns: | 1 | ^ | 2 | ^ | 3a | · | 3b | ^ | 4a | · | 4b | ^ | 5a | · | 5b | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10a | · | 10b | · | 10c | ^ | 11a | · | 11b | ^ | 12a | · | 12b | · | 12c | ^ | 13a | · | 13b | · | 13c | ^ | 14a | · | 14b | ^ | 15 | ^ |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||
SP2: | - | - | - | - | - | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||
SP3: | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
SP4: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP5: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP6: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP7: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
SP8: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP9: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP10: |
ExUns: | 16a | · | 16b | ^ | 17 | ^ | 18a | · | 18b | ^ | 19a | · | 19b | · | 19c | · | 19d |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | |||||||||||||||
SP2: | - | - | - | - | |||||||||||||
SP3: | - | - | - | ||||||||||||||
SP4: | |||||||||||||||||
SP5: | - | ||||||||||||||||
SP6: | - | ||||||||||||||||
SP7: | |||||||||||||||||
SP8: | |||||||||||||||||
SP9: | |||||||||||||||||
SP10: |
This gene was present in the common ancestor of animals and fungi.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | PFKFB3 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | PFKFB3 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | PFKFB3 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Pfkfb3 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Pfkfb3 30 17 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | PFKFB3 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | PFKFB3 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | PFKFB3 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | PFKFB3 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | pfkfb3 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | pfkfb3 30 31 |
|
OneToOne | |
Fruit Fly (Drosophila melanogaster) |
Insecta | Pfrx 31 |
|
OneToMany | |
Worm (Caenorhabditis elegans) |
Secernentea | Y110A7A.6 30 31 |
|
ManyToMany | |
Y110A7A.6b 32 |
|
|
|||
Y110A7A.6a 32 |
|
|
|||
K02B2.1 31 32 |
|
ManyToMany | |||
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | FBP26 31 |
|
OneToMany | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 10 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs199594802 | Likely Benign: not provided | 6,223,992(+) |
C/T NM_004566.4(PFKFB3):c.1248C>T (p.Thr416=) |
NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS | |
rs34184265 | Benign: not provided | 6,221,494(+) |
C/T NM_004566.4(PFKFB3):c.945C>T (p.Tyr315=) |
NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv124n67 | CNV | loss | 20364138 |
dgv1e49 | CNV | loss | 18971310 |
dgv66n27 | CNV | gain | 19166990 |
dgv88e201 | CNV | deletion | 23290073 |
dgv949n54 | CNV | gain | 21841781 |
esv1353057 | CNV | deletion | 17803354 |
esv2626974 | CNV | deletion | 19546169 |
esv2731929 | CNV | deletion | 23290073 |
esv3306994 | CNV | mobile element insertion | 20981092 |
esv3401171 | CNV | insertion | 20981092 |
esv3438991 | CNV | insertion | 20981092 |
esv3545839 | CNV | deletion | 23714750 |
esv3622241 | CNV | gain | 21293372 |
esv3622242 | CNV | gain | 21293372 |
esv3622243 | CNV | loss | 21293372 |
esv994076 | CNV | deletion | 20482838 |
nsv1072583 | CNV | deletion | 25765185 |
nsv1136109 | CNV | deletion | 24896259 |
nsv24567 | CNV | deletion | 16902084 |
nsv437094 | CNV | loss | 16327808 |
nsv437656 | CNV | loss | 16327808 |
nsv512142 | CNV | loss | 21212237 |
nsv521145 | CNV | loss | 19592680 |
nsv525622 | CNV | gain | 19592680 |
nsv5665 | CNV | insertion | 18451855 |
nsv7198 | OTHER | inversion | 18451855 |
nsv825235 | CNV | loss | 20364138 |
nsv958544 | CNV | deletion | 24416366 |
Disorder | Aliases | PubMed IDs |
---|---|---|
colon adenocarcinoma |
|
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schizophrenia |
|
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glycogen storage disease |
|
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3-methylglutaconic aciduria, type iii |
|
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renal cell carcinoma, nonpapillary |
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