PFKFB1 (6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1)

Gene

• Entrez ID: 5207
• Gene name: 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1
• Gene symbol: PFKFB1
• Synonyms (NCBI Gene): F6PK, HL2K, PFRX
• Chromosome: X
• Chromosome location: Xp11.21
• Summary: 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 do

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT1226162	hsa-miR-3714	CLIP-seq
MIRT1226163	hsa-miR-4276	CLIP-seq
MIRT1226164	hsa-miR-4316	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0003824	Function	Catalytic activity	IEA
GO:0003873	Function	6-phosphofructo-2-kinase activity	IBA
GO:0003873	Function	6-phosphofructo-2-kinase activity	IEA
GO:0003873	Function	6-phosphofructo-2-kinase activity	TAS	12379646
GO:0004331	Function	Fructose-2,6-bisphosphate 2-phosphatase activity	IBA
GO:0004331	Function	Fructose-2,6-bisphosphate 2-phosphatase activity	IDA	2837207
GO:0004331	Function	Fructose-2,6-bisphosphate 2-phosphatase activity	IEA
GO:0005515	Function	Protein binding	IPI	10222032, 11522786, 32296183, 33961781
GO:0005524	Function	ATP binding	IEA
GO:0005829	Component	Cytosol	IBA
GO:0005829	Component	Cytosol	TAS
GO:0006000	Process	Fructose metabolic process	IEA
GO:0006003	Process	Fructose 2,6-bisphosphate metabolic process	IBA
GO:0006003	Process	Fructose 2,6-bisphosphate metabolic process	IDA	2837207, 12379646
GO:0006003	Process	Fructose 2,6-bisphosphate metabolic process	IEA
GO:0006094	Process	Gluconeogenesis	NAS	12379646
GO:0006094	Process	Gluconeogenesis	TAS	12379646
GO:0006096	Process	Glycolytic process	NAS	12379646
GO:0006096	Process	Glycolytic process	TAS	12379646
GO:0016301	Function	Kinase activity	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0042802	Function	Identical protein binding	IPI	12379646, 25416956, 32296183
GO:0043540	Component	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase complex	IBA
GO:0043540	Component	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase complex	IDA	12379646
GO:0043540	Component	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase complex	IPI	12379646
GO:0046835	Process	Carbohydrate phosphorylation	IEA
GO:1904539	Process	Negative regulation of glycolytic process through fructose-6-phosphate	IEA

Other IDs

• MIM: 311790
• HGNC: 8872
• e!Ensembl: ENSG00000158571

Protein

• UniProt ID: P16118
• Protein name: 6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 1 (6PF-2-K/Fru-2,6-P2ase 1) (PFK/FBPase 1) (6PF-2-K/Fru-2,6-P2ase liver isozyme) [Includes: 6-phosphofructo-2-kinase (EC 2.7.1.105); Fructose-2,6-bisphosphatase (EC 3.1.3.46)]
• Protein function: Synthesis and degradation of fructose 2,6-bisphosphate.
• PDB: 1K6M
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01591	6PF2K	30 → 251	6-phosphofructo-2-kinase	Domain
  PF00300	His_Phos_1	254 → 440	Histidine phosphatase superfamily (branch 1)	Domain

• Tissue specificity: TISSUE SPECIFICITY: Liver.
• Sequence:

  MSPEMGELTQTRLQKIWIPHSSGSSRLQRRRGSSIPQFTNSPTMVIMVGLPARGKTYIST
  KLTRYLNWIGTPTKVFNLGQYRREAVSYKNYEFFLPDNMEALQIRKQCALAALKDVHNYL
  SHEEGHVAVFDATNTTRERRSLILQFAKEHGYKVFFIESICNDPGIIAENIRQVKLGSPD
  YIDCDREKVLEDFLKRIECYEVNYQPLDEELDSHLSYIKIFDVGTRYMVNRVQDHIQSRT
  VYYLMNIHVTPRSIYLCRHGESELNIRGRIGGDSGLSVRGKQYAYALANFIQSQGISSLK
  VWTSHMKRTIQTAEALGVPYEQWKALNEIDAGVCEEMTYEEIQEHYPEEFALRDQDKYRY
  RYPKGESYEDLVQRLEPVIMELERQENVLVICHQAVMRCLLAYFLDKSSDELPYLKCPLH
  TVLKLTPVAYGCKVESIYLNVEAVNTHREKPENVDITREPEEALDTVPAHY

• Sequence length: 471

Pathways

KEGG:

Fructose and mannose metabolism
Metabolic pathways
AMPK signaling pathway
Glucagon signaling pathway

Reactome:

Regulation of glycolysis by fructose 2,6-bisphosphate metabolism

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
FAMILIAL LONG QT SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Relationship Type	References	Evidence Score
Non Muscle Invasive Bladder Neoplasms	Associate	26980488	★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Associate	26980488	★☆☆☆☆ Found in Text Mining only