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

Gene ID: 5207, updated on 2-Nov-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
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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 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)

Genotypes

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

  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

  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

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

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

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

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

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

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

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