Free for academic non-profit institutions. Other users need a Commercial license
This gene encodes a member of the phosphofructokinase A protein family. The encoded enzyme is the platelet-specific isoform of phosphofructokinase and plays a key role in glycolysis regulation. This gene may play a role in metabolic reprogramming in some cancers, including clear cell renal cell carcinomas, and cancer of the bladder, breast, and lung. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]
PFKP (Phosphofructokinase, Platelet) is a Protein Coding gene. Diseases associated with PFKP include Glycogen Storage Disease Vii and Glycogen Storage Disease. Among its related pathways are Central carbon metabolism in cancer and Cori Cycle. Gene Ontology (GO) annotations related to this gene include 6-phosphofructokinase activity. An important paralog of this gene is PFKM.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000166 | nucleotide binding | IEA | -- |
GO:0003824 | catalytic activity | IEA | -- |
GO:0003872 | 6-phosphofructokinase activity | IEA,TAS | 1834056 |
GO:0005515 | protein binding | IPI | 32296183 |
GO:0005524 | ATP binding | IEA,IBA | 21873635 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005634 | nucleus | HDA | 21630459 |
GO:0005737 | cytoplasm | IEA,IDA | 25468996 |
GO:0005829 | cytosol | TAS | -- |
GO:0005945 | 6-phosphofructokinase complex | IBA | 21873635 |
GO:0016020 | membrane | IBA | 21873635 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Glucose metabolism |
Glycolysis and gluconeogenesis (short map)
.58
.52
|
.01
|
2 | Carbon metabolism | ||
3 | Metabolism |
.40
|
|
4 | Glucose / Energy Metabolism | ||
5 | AMP-activated Protein Kinase (AMPK) Signaling |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006002 | fructose 6-phosphate metabolic process | IEA,IBA | 21873635 |
GO:0006096 | glycolytic process | IEA | -- |
GO:0008152 | metabolic process | IEA | -- |
GO:0016310 | phosphorylation | IEA | -- |
GO:0030388 | fructose 1,6-bisphosphate metabolic process | IBA | 21873635 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
ADP |
|
58-64-0 |
|
|||
Beta-D-Fructose 6-phosphate |
|
|
||||
D-Tagatose 1,6-bisphosphate |
|
|
||||
D-Tagatose 6-phosphate |
|
|
||||
Fructose 1,6-bisphosphate |
|
34693-15-7 |
|
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: |
This gene was present in the common ancestor of animals and fungi.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | PFKP 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | PFKP 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | PFKP 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Pfkp 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Pfkp 30 17 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | PFKP 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | PFKP 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | PFKP 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | PFKP 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | pfkp 30 |
|
||
MGC75635 30 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | MGC68847 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | pfkpa 31 |
|
OneToMany | |
pfkpb 30 31 |
|
OneToMany | |||
Dr.12547 30 |
|
||||
Fruit Fly (Drosophila melanogaster) |
Insecta | Pfk 31 32 |
|
OneToMany | |
Worm (Caenorhabditis elegans) |
Secernentea | Y71H10A.1b 32 |
|
|
|
Y71H10A.1a 32 |
|
|
|||
pfk-1 31 |
|
ManyToMany | |||
pfk-2 31 |
|
ManyToMany | |||
C50F4.2 32 |
|
|
|||
A. gosspyii yeast (Eremothecium gossypii) |
Saccharomycetes | AGOS_AEL208W 30 |
|
||
K. Lactis Yeast (Kluyveromyces lactis) |
Saccharomycetes | KLLA0A05544g 30 |
|
||
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | PFK1 30 31 |
|
ManyToMany | |
PFK2 31 |
|
ManyToMany | |||
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany | |
Sea Vase (Ciona intestinalis) |
Ascidiacea | Cin.3271 30 |
|
SNP ID | Clinical significance and condition | Chr 10 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs111575676 | Benign: not provided | 3,105,389(+) |
A/G NM_002627.5(PFKP):c.666-4A>G |
INTRON | |
rs11542779 | Benign: not provided | 3,109,435(+) |
C/T NM_002627.5(PFKP):c.1044C>T (p.Asn348=) |
SYNONYMOUS | |
rs11542780 | Benign: not provided | 3,108,769(+) |
C/T NM_002627.5(PFKP):c.939C>T (p.Thr313=) |
SYNONYMOUS | |
rs1228398986 | Likely Benign: not provided | 3,101,508(+) |
C/T NM_002627.5(PFKP):c.408C>T (p.Leu136=) |
SYNONYMOUS_VARIANT,FIVE_PRIME_UTR | |
rs141331919 | Likely Benign: not provided | 3,105,429(+) |
G/A NM_002627.5(PFKP):c.702G>A (p.Ala234=) |
SYNONYMOUS |
Disorder | Aliases | PubMed IDs |
---|---|---|
glycogen storage disease vii |
|
|
glycogen storage disease |
|
|