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

    Gene ID: 5207, updated on 9-Dec-2024

    Summary

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    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; AllianceGenome:HGNC:8872
    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
    mouse all
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    Genomic context

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    See PFKFB1 in Genome Data Viewer
    Location:
    Xp11.21
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (54932961..54998789, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (54226089..54293383, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (54959394..55025222, 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 ReSE screen-validated silencer GRCh37_chrX:54962395-54962556 Neighboring gene small nucleolar RNA, H/ACA box 11G Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:54977103-54977603 Neighboring gene trophinin Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20865 Neighboring gene Sharpr-MPRA regulatory regions 2439 and 5762 Neighboring gene ALAS2 intronic erythroid enhancer Neighboring gene ALAS2 intron 1 and 3 erythroid regulatory elements Neighboring gene apurinic/apyrimidinic endodeoxyribonuclease 2 Neighboring gene 5'-aminolevulinate synthase 2 Neighboring gene PAGE family member 2B Neighboring gene HDGFL3 pseudogene 1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. Sequence of human liver 6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase. Lange AJ, et al. Nucleic Acids Res, 1990 Jun 25. PMID 2163524, Free PMC Article
    2. Glucocorticoid regulation of hepatic 6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase gene expression. Marker AJ, et al. J Biol Chem, 1989 Apr 25. PMID 2540168
    3. Localization of human liver 6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase (PFKFB1) within a YAC contig in Xp11.21. Batra RS, et al. Genomics, 1997 Mar 1. PMID 9119406
    4. Tissue-specific structure/function differentiation of the liver isoform of 6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase. Lee YH, et al. J Biol Chem, 2003 Jan 3. PMID 12379646
    5. cDNA sequence and kinetic properties of human lung fructose(1, 6)bisphosphatase. Skalecki K, et al. Arch Biochem Biophys, 1999 May 1. PMID 10222032

    See all (29) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Insulin resistance in obese boys leads to up-regulation of INSIG2 gene expression as well as to down-regulation of PFKFB1, PFKFB3, and HK2 genes in the blood cells as compared to obese patients with normal insulin sensitivity.
      Title: [EXPRESSION OF GENES, WHICH CONTROL GLUCOSE METABOLISM, IN BLOOD CELLS OF THE OBESE BOYS WITH INSULIN RESISTANCE].
    2. Observational study of genetic testing. (HuGE Navigator)
      Title: Perioperative genomic profiles using structure-specific oligonucleotide probes.
    3. Results describe structural differences between two isozymes of 6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase from liver and testis.
      Title: Tissue-specific structure/function differentiation of the liver isoform of 6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC116715, MGC116717

    Gene Ontology Provided by GOA

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

    General protein information

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    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
    XP_047298113.1
    XP_047298114.1
    XP_054183160.1
    XP_054183161.1
    XP_054183162.1
    XP_054183163.1
    XP_054183164.1
    XP_054183165.1

    NCBI Reference Sequences (RefSeq)

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    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
      4891..66118
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001271804.2 → NP_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, AL020991, AL049732, JQ425695
      UniProtKB/TrEMBL
      I1Z9G4, Q4VBA8
      Conserved Domains (3) summary
      pfam00300
      Location:232 → 415
      His_Phos_1; Histidine phosphatase superfamily (branch 1)
      pfam01591
      Location:30 → 229
      6PF2K; 6-phosphofructo-2-kinase
      pfam13671
      Location:44 → 176
      AAA_33; AAA domain

    2. NM_001271805.2 → NP_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, AL020991, AL049732
      Consensus CDS
      CCDS65273.1
      UniProtKB/TrEMBL
      Q4VBA8
      Related
      ENSP00000444074.1, ENST00000545676.5
      Conserved Domains (2) summary
      pfam00300
      Location:189 → 372
      His_Phos_1; Histidine phosphatase superfamily (branch 1)
      pfam01591
      Location:7 → 186
      6PF2K; 6-phosphofructo-2-kinase

    3. NM_002625.4 → NP_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, AL020991, AL049732, AL703826, X52638
      Consensus CDS
      CCDS14364.1
      UniProtKB/Swiss-Prot
      B2RA88, B4DUN5, P16118, Q5JXS5, Q99951
      UniProtKB/TrEMBL
      Q4VBA8
      Related
      ENSP00000364145.3, ENST00000375006.8
      Conserved Domains (3) summary
      pfam00300
      Location:254 → 437
      His_Phos_1; Histidine phosphatase superfamily (branch 1)
      pfam01591
      Location:30 → 251
      6PF2K; 6-phosphofructo-2-kinase
      pfam13671
      Location:44 → 198
      AAA_33; AAA domain

    RNA

    1. NR_073450.2 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, AL020991, AL049732, JQ425694

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000023.11 Reference GRCh38.p14 Primary Assembly

      Range
      54932961..54998789 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047442158.1 → XP_047298114.1  6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 1 isoform X6

      UniProtKB/TrEMBL
      Q4VBA8

    2. XM_024452389.2 → XP_024308157.1  6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 1 isoform X5

      UniProtKB/TrEMBL
      Q4VBA8
      Conserved Domains (2) summary
      pfam01591
      Location:11 → 228
      6PF2K; 6-phosphofructo-2-kinase
      pfam00300
      Location:231 → 417
      His_Phos_1; Histidine phosphatase superfamily (branch 1)

    3. XM_047442157.1 → XP_047298113.1  6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 1 isoform X2

      UniProtKB/TrEMBL
      Q4VBA8

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

      UniProtKB/TrEMBL
      Q4VBA8

    5. XM_017029578.2 → XP_016885067.1  6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 1 isoform X4

      UniProtKB/TrEMBL
      Q4VBA8

    6. XM_017029577.2 → XP_016885066.1  6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 1 isoform X3

      UniProtKB/TrEMBL
      Q4VBA8

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060947.1 Alternate T2T-CHM13v2.0

      Range
      54226089..54293383 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054327186.1 → XP_054183161.1  6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 1 isoform X2

      UniProtKB/TrEMBL
      Q4VBA8

    2. XM_054327189.1 → XP_054183164.1  6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 1 isoform X5

      UniProtKB/TrEMBL
      Q4VBA8

    3. XM_054327190.1 → XP_054183165.1  6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 1 isoform X6

      UniProtKB/TrEMBL
      Q4VBA8

    4. XM_054327185.1 → XP_054183160.1  6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 1 isoform X1

      UniProtKB/TrEMBL
      Q4VBA8

    5. XM_054327188.1 → XP_054183163.1  6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 1 isoform X4

      UniProtKB/TrEMBL
      Q4VBA8

    6. XM_054327187.1 → XP_054183162.1  6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 1 isoform X3

      UniProtKB/TrEMBL
      Q4VBA8
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P16118.3 GenPept UniProtKB/Swiss-Prot:P16118

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