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    PFKFB3 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3 [ Homo sapiens (human) ]

    Gene ID: 5209, updated on 5-Nov-2017
    Official Symbol
    PFKFB3provided by HGNC
    Official Full Name
    6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3provided by HGNC
    Primary source
    HGNC:HGNC:8874
    See related
    Ensembl:ENSG00000170525 MIM:605319; Vega:OTTHUMG00000017621
    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
    PFK2; IPFK2; iPFK-2
    Summary
    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]
    Expression
    Biased expression in fat (RPKM 188.2), bone marrow (RPKM 67.0) and 9 other tissues See more
    Orthologs
    Location:
    10p15.1
    Exon count:
    19
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 10 NC_000010.11 (6144802..6254648)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (6186843..6277508)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene RNA binding motif protein 17 Neighboring gene uncharacterized LOC101928080 Neighboring gene RNA, 7SK small nuclear pseudogene 78 Neighboring gene microRNA 3155a Neighboring gene microRNA 3155b Neighboring gene syndecan binding protein pseudogene 1 Neighboring gene uncharacterized LOC399715 Neighboring gene developmental pluripotency associated 5 pseudogene 3

    • 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?

    NHGRI GWAS Catalog

    Description
    Genetic variant predicts bevacizumab-induced hypertension in ECOG-5103 and ECOG-2100.
    NHGRI GWA Catalog
    Genome-wide association study of celiac disease in North America confirms FRMD4B as new celiac locus.
    NHGRI GWA Catalog
    • AMP-activated Protein Kinase (AMPK) Signaling, organism-specific biosystem (from WikiPathways)
      AMP-activated Protein Kinase (AMPK) Signaling, organism-specific biosystemAMPK signaling pathway, a fuel sensor and regulator, promotes ATP-producing and inhibits ATP-consuming pathways in various tissues. AMPK is a heterotrimer composed of alpha-catalytic and beta and gam...
    • 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
    • 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...
    • HIF-1 signaling pathway, organism-specific biosystem (from KEGG)
      HIF-1 signaling pathway, organism-specific biosystemHypoxia-inducible factor 1 (HIF-1) is a transcription factor that functions as a master regulator of oxygen homeostasis. It consists of two subunits: an inducibly-expressed HIF-1alpha subunit and a c...
    • HIF-1-alpha transcription factor network, organism-specific biosystem (from Pathway Interaction Database)
      HIF-1-alpha transcription factor network, organism-specific biosystem
      HIF-1-alpha transcription factor network
    • 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...
    • fructose 2,6-bisphosphate biosynthesis, conserved biosystem (from BIOCYC)
      fructose 2,6-bisphosphate biosynthesis, conserved biosystemGeneral Background |FRAME: CPD-535 "Fructose-2,6-bisphosphate"| is a potent allosteric regulator with dual simultaneous functions. It is an activator of |FRAME: HS06881-MONOMER "phosphofructokinase"...
    • fructose 2,6-bisphosphate synthesis, organism-specific biosystem (from BIOCYC)
      fructose 2,6-bisphosphate synthesis, organism-specific biosystemGeneral Background : CPD-535 is a potent allosteric regulator with dual simultaneous functions. It is an activator of : HS06881-MONOMER "phosphofructokinase" and an inhibitor of : CPLX66-505 "fructo...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • FLJ37326

    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 NAS
    Non-traceable Author Statement
    more info
    PubMed 
    ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    fructose-2,6-bisphosphate 2-phosphatase activity IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    brain development 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 IEA
    Inferred from Electronic Annotation
    more info
     
    fructose metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of glycolytic process TAS
    Traceable Author Statement
    more info
     
    Component Evidence Code Pubs
    cytosol TAS
    Traceable Author Statement
    more info
     
    nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    Preferred Names
    6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 3
    Names
    6-phosphofructo-2-kinase/ fructose-2,6-bisphosphatase
    6PF-2-K/Fru-2,6-P2ase 3
    6PF-2-K/Fru-2,6-P2ase brain/placenta-type isozyme
    PFK/FBPase 3
    fructose-6-phosphate,2-kinase/fructose-2, 6-bisphosphatase
    inducible 6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase
    renal carcinoma antigen NY-REN-56
    NP_001138915.1
    NP_001269559.1
    NP_001300992.1
    NP_001309945.1
    NP_001309946.1
    NP_004557.1
    XP_005252521.1
    XP_011517795.1
    XP_016871814.1
    XP_016871815.1
    XP_016871816.1
    XP_016871817.1
    XP_016871818.1

    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.

    mRNA and Protein(s)

    1. NM_001145443.2NP_001138915.1  6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 3 isoform 2

      See identical proteins and their annotated locations for NP_001138915.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate 5' terminal exon compared to variant 1. The resulting isoform (2) has a shorter and distinct N-terminus compared to isoform 1.
      Source sequence(s)
      AI633567, AK303039, AL157395, AL359960, DC319465
      Consensus CDS
      CCDS44353.1
      UniProtKB/TrEMBL
      B7Z8A0
      Related
      ENSP00000369115.4, OTTHUMP00000019039, ENST00000379789.8, OTTHUMT00000046646
      Conserved Domains (2) summary
      pfam00300
      Location:229412
      His_Phos_1; Histidine phosphatase superfamily (branch 1)
      pfam01591
      Location:4226
      6PF2K; 6-phosphofructo-2-kinase
    2. NM_001282630.2NP_001269559.1  6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 3 isoform 3

      See identical proteins and their annotated locations for NP_001269559.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) uses an alternate 5' terminal exon compared to variant 1. The resulting isoform (3) has a longer and distinct N-terminus compared to isoform 1.
      Source sequence(s)
      AI633567, AK303039, AK304450, AL359960, DC316967
      Consensus CDS
      CCDS60479.1
      UniProtKB/Swiss-Prot
      Q16875
      UniProtKB/TrEMBL
      B7Z8A0
      Related
      ENSP00000443319.2, ENST00000536985.6
      Conserved Domains (2) summary
      pfam00300
      Location:263446
      His_Phos_1; Histidine phosphatase superfamily (branch 1)
      pfam01591
      Location:41260
      6PF2K; 6-phosphofructo-2-kinase
    3. NM_001314063.1NP_001300992.1  6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 3 isoform 4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in the 3' UTR and contains an alternate exon in the 3' coding region that results in a frameshift, compared to variant 1. The resulting isoform (4) has a shorter and distinct C-terminus compared to isoform 1.
      Source sequence(s)
      AF056320, AI633567, AL157395, AL359960, DB068734
      Consensus CDS
      CCDS81439.1
      UniProtKB/Swiss-Prot
      Q16875
      Related
      ENSP00000353712.2, OTTHUMP00000019044, ENST00000360521.6, OTTHUMT00000046651
      Conserved Domains (2) summary
      pfam00300
      Location:249432
      His_Phos_1; Histidine phosphatase superfamily (branch 1)
      pfam01591
      Location:26246
      6PF2K; 6-phosphofructo-2-kinase
    4. NM_001323016.1NP_001309945.1  6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 3 isoform 5

      Status: REVIEWED

      Source sequence(s)
      AL157395, AL359960
    5. NM_001323017.1NP_001309946.1  6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 3 isoform 6

      Status: REVIEWED

      Source sequence(s)
      AL157395, AL359960
    6. NM_004566.3NP_004557.1  6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 3 isoform 1

      See identical proteins and their annotated locations for NP_004557.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes isoform 1.
      Source sequence(s)
      AI633567, AK291263, AL157395, AL359960, DB068734
      Consensus CDS
      CCDS7078.1
      UniProtKB/Swiss-Prot
      Q16875
      Related
      ENSP00000369100.4, OTTHUMP00000019040, ENST00000379775.8, OTTHUMT00000046647
      Conserved Domains (2) summary
      pfam01591
      Location:26246
      6PF2K; 6-phosphofructo-2-kinase
      pfam00300
      Location:249435
      His_Phos_1; Histidine phosphatase superfamily (branch 1)

    RNA

    1. NR_136554.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL157395, AL359960

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000010.11 Reference GRCh38.p7 Primary Assembly

      Range
      6144802..6254648
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017016327.1XP_016871816.1  6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 3 isoform X3

    2. XM_017016325.1XP_016871814.1  6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 3 isoform X1

      UniProtKB/TrEMBL
      A0A1W2PR17
      Related
      ENSP00000492001.1, OTTHUMP00000019052, ENST00000640683.1, OTTHUMT00000046660
    3. XM_017016328.1XP_016871817.1  6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 3 isoform X4

    4. XM_017016326.1XP_016871815.1  6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 3 isoform X2

    5. XM_005252464.1XP_005252521.1  6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 3 isoform X6

      See identical proteins and their annotated locations for XP_005252521.1

      Related
      ENSP00000486311.1, ENST00000625260.2
      Conserved Domains (2) summary
      pfam00300
      Location:249432
      His_Phos_1; Histidine phosphatase superfamily (branch 1)
      pfam01591
      Location:26246
      6PF2K; 6-phosphofructo-2-kinase
    6. XM_011519493.1XP_011517795.1  6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 3 isoform X7

      Conserved Domains (2) summary
      cd07067
      Location:248399
      HP_PGM_like; Histidine phosphatase domain found in phosphoglycerate mutases and related proteins, mostly phosphatases; contains a His residue which is phosphorylated during the reaction
      pfam01591
      Location:26246
      6PF2K; 6-phosphofructo-2-kinase
    7. XM_017016329.1XP_016871818.1  6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 3 isoform X5

    Alternate CHM1_1.1

    Genomic

    1. NC_018921.2 Alternate CHM1_1.1

      Range
      6186884..6276773
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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