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PFKFB1 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 [ Homo sapiens (human) ]

Gene ID: 5207, updated on 8-Dec-2018

Summary

Official Symbol
PFKFB1provided by HGNC
Official Full Name
6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1provided by HGNC
Primary source
HGNC:HGNC:8872
See related
Ensembl:ENSG00000158571 MIM:311790
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
F6PK; HL2K; PFRX
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 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]
Expression
Biased expression in fat (RPKM 14.1) and liver (RPKM 5.1) See more
Orthologs

Genomic context

See PFKFB1 in Genome Data Viewer
Location:
Xp11.21
Exon count:
17
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) X NC_000023.11 (54933134..55000052, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (54959307..55025244, complement)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene MAGE family member D2 Neighboring gene small nucleolar RNA, H/ACA box 11 Neighboring gene small nucleolar RNA, H/ACA box 11G Neighboring gene trophinin Neighboring gene Sharpr-MPRA regulatory regions 2439 and 5762 Neighboring gene ALAS2 intronic erythroid enhancer Neighboring gene apurinic/apyrimidinic endodeoxyribonuclease 2 Neighboring gene 5'-aminolevulinate synthase 2

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Pathways from BioSystems

  • AMPK signaling pathway, organism-specific biosystem (from KEGG)
    AMPK signaling pathway, organism-specific biosystemAMP-activated protein kinase (AMPK) is a serine threonine kinase that is highly conserved through evolution. AMPK system acts as a sensor of cellular energy status. It is activated by increases in th...
  • AMPK signaling pathway, conserved biosystem (from KEGG)
    AMPK signaling pathway, conserved biosystemAMP-activated protein kinase (AMPK) is a serine threonine kinase that is highly conserved through evolution. AMPK system acts as a sensor of cellular energy status. It is activated by increases in th...
  • Fructose and mannose metabolism, organism-specific biosystem (from KEGG)
    Fructose and mannose metabolism, organism-specific biosystem
    Fructose and mannose metabolism
  • Fructose and mannose metabolism, conserved biosystem (from KEGG)
    Fructose and mannose metabolism, conserved biosystem
    Fructose and mannose metabolism
  • Glucagon signaling pathway, organism-specific biosystem (from KEGG)
    Glucagon signaling pathway, organism-specific biosystemGlucagon is conventionally regarded as a counterregulatory hormone for insulin and plays a critical anti-hypoglycemic role by maintaining glucose homeostasis in both animals and humans. To increase ...
  • Glucagon signaling pathway, conserved biosystem (from KEGG)
    Glucagon signaling pathway, conserved biosystemGlucagon is conventionally regarded as a counterregulatory hormone for insulin and plays a critical anti-hypoglycemic role by maintaining glucose homeostasis in both animals and humans. To increase ...
  • Gluconeogenesis, organism-specific biosystem (from REACTOME)
    Gluconeogenesis, organism-specific biosystemThe reactions of gluconeogenesis convert mitochondrial pyruvate to cytosolic glucose 6-phosphate which in turn can be hydrolyzed to glucose and exported from the cell. Gluconeogenesis is confined to ...
  • Glucose metabolism, organism-specific biosystem (from REACTOME)
    Glucose metabolism, organism-specific biosystemGlucose is the major form in which dietary sugars are made available to cells of the human body. Its breakdown is a major source of energy for all cells, and is essential for the brain and red blood ...
  • Glycolysis, organism-specific biosystem (from REACTOME)
    Glycolysis, organism-specific biosystemThe reactions of glycolysis (e.g., van Wijk and van Solinge 2005) convert glucose 6-phosphate to pyruvate. The entire process is cytosolic. Glucose 6-phosphate is reversibly isomerized to form fructo...
  • Integration of energy metabolism, organism-specific biosystem (from REACTOME)
    Integration of energy metabolism, organism-specific biosystemMany hormones that affect individual physiological processes including the regulation of appetite, absorption, transport, and oxidation of foodstuffs influence energy metabolism pathways. While insul...
  • Metabolism, organism-specific biosystem (from REACTOME)
    Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
  • Metabolism of carbohydrates, organism-specific biosystem (from REACTOME)
    Metabolism of carbohydrates, organism-specific biosystemThese pathways together are responsible for: 1) the extraction of energy and carbon skeletons for biosyntheses from dietary sugars and related molecules; 2) the short-term storage of glucose in the b...
  • PKA-mediated phosphorylation of key metabolic factors, organism-specific biosystem (from REACTOME)
    PKA-mediated phosphorylation of key metabolic factors, organism-specific biosystemUpon dissociation of protein kinase A (PKA) tetramers in the presence of cAMP, the released PKA catalytic monomers phosphorylate specific serine and threonine residues of several metabolic enzymes. T...
  • PP2A-mediated dephosphorylation of key metabolic factors, organism-specific biosystem (from REACTOME)
    PP2A-mediated dephosphorylation of key metabolic factors, organism-specific biosystemA member of the PP2A family of phosphatases dephosphorylates both cytosolic and nuclear forms of ChREBP (Carbohydrate Response Elemant Binding Protein). In the nucleus, dephosphorylated ChREBP comple...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC116715, MGC116717

Gene Ontology Provided by GOA

Function Evidence Code Pubs
6-phosphofructo-2-kinase activity EXP
Inferred from Experiment
more info
PubMed 
6-phosphofructo-2-kinase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
6-phosphofructo-2-kinase activity TAS
Traceable Author Statement
more info
PubMed 
ATP binding IEA
Inferred from Electronic Annotation
more info
 
fructose-2,6-bisphosphate 2-phosphatase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
fructose-2,6-bisphosphate 2-phosphatase activity IDA
Inferred from Direct Assay
more info
PubMed 
fructose-2,6-bisphosphate 2-phosphatase activity TAS
Traceable Author Statement
more info
 
fructose-6-phosphate binding IEA
Inferred from Electronic Annotation
more info
 
identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
kinase binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
animal organ regeneration IEA
Inferred from Electronic Annotation
more info
 
carbohydrate phosphorylation IEA
Inferred from Electronic Annotation
more info
 
dephosphorylation IEA
Inferred from Electronic Annotation
more info
 
fructose 2,6-bisphosphate metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
fructose 2,6-bisphosphate metabolic process IDA
Inferred from Direct Assay
more info
PubMed 
fructose metabolic process IEA
Inferred from Electronic Annotation
more info
 
gluconeogenesis TAS
Traceable Author Statement
more info
PubMed 
glycolytic process TAS
Traceable Author Statement
more info
PubMed 
negative regulation of glycolytic process TAS
Traceable Author Statement
more info
 
positive regulation of glucokinase activity IEA
Inferred from Electronic Annotation
more info
 
positive regulation of glycolytic process TAS
Traceable Author Statement
more info
 
response to cAMP IEA
Inferred from Electronic Annotation
more info
 
response to glucagon IEA
Inferred from Electronic Annotation
more info
 
response to glucocorticoid IEA
Inferred from Electronic Annotation
more info
 
response to insulin IEA
Inferred from Electronic Annotation
more info
 
response to starvation IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
6-phosphofructo-2-kinase/fructose-2,6-biphosphatase complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
6-phosphofructo-2-kinase/fructose-2,6-biphosphatase complex IDA
Inferred from Direct Assay
more info
PubMed 
cytosol IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 1
Names
6PF-2-K/Fru-2,6-P2ASE liver isozyme
6PF-2-K/Fru-2,6-P2ase 1
PFK/FBPase 1
fructose-6-phosphate,2-kinase:fructose-2,6-bisphosphatase
NP_001258733.1
NP_001258734.1
NP_002616.2
XP_016885065.1
XP_016885066.1
XP_016885067.1
XP_024308157.1

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_013254.1 RefSeqGene

    Range
    5001..65945
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001271804.1NP_001258733.1  6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 1 isoform 2

    See identical proteins and their annotated locations for NP_001258733.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an in-frame segment in the coding region, compared to variant 1. The resulting isoform (2) is shorter than isoform 1.
    Source sequence(s)
    AK300724, AK314089, JQ425695
    UniProtKB/Swiss-Prot
    P16118
    UniProtKB/TrEMBL
    I1Z9G4
    Conserved Domains (3) summary
    pfam00300
    Location:232415
    His_Phos_1; Histidine phosphatase superfamily (branch 1)
    pfam01591
    Location:30229
    6PF2K; 6-phosphofructo-2-kinase
    pfam13671
    Location:44176
    AAA_33; AAA domain
  2. NM_001271805.1NP_001258734.1  6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 1 isoform 3

    See identical proteins and their annotated locations for NP_001258734.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks two 5' exons and contains an alternate 5' exon, compared to variant 1. The resulting isoform (3) has a distinct N-terminus and is shorter than isoform 1.
    Source sequence(s)
    AK300724
    Consensus CDS
    CCDS65273.1
    UniProtKB/Swiss-Prot
    P16118
    Related
    ENSP00000444074.1, ENST00000545676.5
    Conserved Domains (2) summary
    pfam00300
    Location:189372
    His_Phos_1; Histidine phosphatase superfamily (branch 1)
    pfam01591
    Location:7186
    6PF2K; 6-phosphofructo-2-kinase
  3. NM_002625.3NP_002616.2  6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 1 isoform 1

    See identical proteins and their annotated locations for NP_002616.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1).
    Source sequence(s)
    AK314089, AL703826, X52638
    Consensus CDS
    CCDS14364.1
    UniProtKB/Swiss-Prot
    P16118
    Related
    ENSP00000364145.3, ENST00000375006.7
    Conserved Domains (3) summary
    pfam00300
    Location:254437
    His_Phos_1; Histidine phosphatase superfamily (branch 1)
    pfam01591
    Location:30251
    6PF2K; 6-phosphofructo-2-kinase
    pfam13671
    Location:44198
    AAA_33; AAA domain

RNA

  1. NR_073450.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) lacks an internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AK300724, AK314089, JQ425694
    Related
    ENST00000614686.1

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p12 Primary Assembly

    Range
    54933134..55000052 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024452389.1XP_024308157.1  6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 1 isoform X4

    Conserved Domains (2) summary
    pfam01591
    Location:11228
    6PF2K; 6-phosphofructo-2-kinase
    pfam00300
    Location:231417
    His_Phos_1; Histidine phosphatase superfamily (branch 1)
  2. XM_017029576.1XP_016885065.1  6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 1 isoform X1

  3. XM_017029578.1XP_016885067.1  6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 1 isoform X3

  4. XM_017029577.1XP_016885066.1  6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 1 isoform X2

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