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

    Gene ID: 5207, updated on 25-May-2017
    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; Vega:OTTHUMG00000021643
    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]
    Orthologs
    Location:
    Xp11.21
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) X NC_000023.11 (54933134..54998534, 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 trophinin Neighboring gene apurinic/apyrimidinic endodeoxyribonuclease 2 Neighboring gene 5'-aminolevulinate synthase 2 Neighboring gene PAGE family member 2B

    • 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 Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    • 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...
    Products Interactant Other Gene Complex Source Pubs Description

    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 TAS
    Traceable Author Statement
    more info
    PubMed 
    ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    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
     
    canonical glycolysis TAS
    Traceable Author Statement
    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 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 
    positive regulation of glucokinase activity IEA
    Inferred from Electronic Annotation
    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 IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytosol TAS
    Traceable Author Statement
    more info
     
    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

    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, OTTHUMP00000023391, ENST00000375006.7, OTTHUMT00000056847
      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 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000023.11 Reference GRCh38.p7 Primary Assembly

      Range
      54933134..54998534 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017029576.1XP_016885065.1  6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 1 isoform X1

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

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

    Alternate CHM1_1.1

    Genomic

    1. NC_018934.2 Alternate CHM1_1.1

      Range
      54949616..55015006 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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