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

Gene ID: 5209, updated on 12-May-2019

Summary

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
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

Genomic context

See PFKFB3 in Genome Data Viewer
Location:
10p15.1
Exon count:
20
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 10 NC_000010.11 (6144878..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 RN7SK pseudogene 78 Neighboring gene microRNA 3155a Neighboring gene microRNA 3155b Neighboring gene Sharpr-MPRA regulatory region 6271 Neighboring gene syndecan binding protein pseudogene 1

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?

Phenotypes

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

Pathways from BioSystems

  • 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...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ37326

Gene Ontology Provided by GOA

Function Evidence Code Pubs
6-phosphofructo-2-kinase activity IBA
Inferred from Biological aspect of Ancestor
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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
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 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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 

General protein information

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
XP_024303805.1

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.

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, ENST00000379789.8
    Conserved Domains (2) summary
    pfam01591
    Location:4226
    6PF2K; 6-phosphofructo-2-kinase
    pfam00300
    Location:229415
    His_Phos_1; Histidine phosphatase superfamily (branch 1)
  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, ENST00000360521.7
    Conserved Domains (2) summary
    pfam01591
    Location:26246
    6PF2K; 6-phosphofructo-2-kinase
    pfam00300
    Location:249435
    His_Phos_1; Histidine phosphatase superfamily (branch 1)
  4. NM_001323016.1NP_001309945.1  6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 3 isoform 5

    Status: REVIEWED

    Source sequence(s)
    AL157395, AL359960
    Conserved Domains (2) summary
    pfam01591
    Location:4226
    6PF2K; 6-phosphofructo-2-kinase
    pfam00300
    Location:229415
    His_Phos_1; Histidine phosphatase superfamily (branch 1)
  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_001363545.1NP_001350474.1  6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 3 isoform 7

    Status: REVIEWED

    Source sequence(s)
    AL157395, AL359960
    Consensus CDS
    CCDS86068.1
    Conserved Domains (2) summary
    pfam01591
    Location:26246
    6PF2K; 6-phosphofructo-2-kinase
    pfam00300
    Location:249435
    His_Phos_1; Histidine phosphatase superfamily (branch 1)
  7. NM_004566.4NP_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, ENST00000379775.9
    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 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p12 Primary Assembly

    Range
    6144878..6254648
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

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

    UniProtKB/TrEMBL
    A0A1W2PR17
    Related
    ENSP00000492001.1, ENST00000640683.1
    Conserved Domains (2) summary
    pfam01591
    Location:26246
    6PF2K; 6-phosphofructo-2-kinase
    pfam00300
    Location:249435
    His_Phos_1; Histidine phosphatase superfamily (branch 1)
  3. XM_017016328.2XP_016871817.1  6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 3 isoform X4

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

  5. XM_005252464.2XP_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
    pfam01591
    Location:26246
    6PF2K; 6-phosphofructo-2-kinase
    pfam00300
    Location:249435
    His_Phos_1; Histidine phosphatase superfamily (branch 1)
  6. XM_011519493.2XP_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_017016329.2XP_016871818.1  6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 3 isoform X5

  8. XM_024448037.1XP_024303805.1  6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 3 isoform X8

    Conserved Domains (2) summary
    pfam00300
    Location:66252
    His_Phos_1; Histidine phosphatase superfamily (branch 1)
    cl17190
    Location:163
    NK; Nucleoside/nucleotide kinase (NK) is a protein superfamily consisting of multiple families of enzymes that share structural similarity and are functionally related to the catalysis of the reversible phosphate group transfer from nucleoside triphosphates ...
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