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Aliases for PFKFB1 Gene

Aliases for PFKFB1 Gene

  • 6-Phosphofructo-2-Kinase/Fructose-2,6-Biphosphatase 1 2 3 5
  • 6PF-2-K/Fru-2,6-P2ase 1 3 4
  • PFK/FBPase 1 3 4
  • PFRX 3 4
  • F6PK 3 4
  • Fructose-6-Phosphate,2-Kinase:Fructose-2,6-Bisphosphatase 3
  • 6-Phosphofructo-2-Kinase/Fructose-2,6-Bisphosphatase 1 3
  • 6PF-2-K/Fru-2,6-P2ASE Liver Isozyme 3
  • 6PF-2-K/Fru-2,6-P2ase Liver Isozyme 4
  • HL2K 3

External Ids for PFKFB1 Gene

Previous HGNC Symbols for PFKFB1 Gene

  • PFRX

Previous GeneCards Identifiers for PFKFB1 Gene

  • GC0XM051811
  • GC0XM052897
  • GC0XM053564
  • GC0XM053926
  • GC0XM054842
  • GC0XM052011

Summaries for PFKFB1 Gene

Entrez Gene Summary for PFKFB1 Gene

  • 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]

GeneCards Summary for PFKFB1 Gene

PFKFB1 (6-Phosphofructo-2-Kinase/Fructose-2,6-Biphosphatase 1) is a Protein Coding gene. Among its related pathways are Metabolism and Glucose metabolism. GO annotations related to this gene include identical protein binding and kinase binding. An important paralog of this gene is PFKFB4.

UniProtKB/Swiss-Prot for PFKFB1 Gene

  • Synthesis and degradation of fructose 2,6-bisphosphate.

Gene Wiki entry for PFKFB1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PFKFB1 Gene

Genomics for PFKFB1 Gene

Regulatory Elements for PFKFB1 Gene

Enhancers for PFKFB1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH0XF055006 0.8 Ensembl ENCODE 9.3 -8.6 -8627 3.4 ELF3 JUN CEBPG ZBTB40 RAD21 POLR2A SCRT2 HNF4G NR2F6 MAZ TRO PFKFB1 APEX2 PAGE2B
GH0XF054993 0.8 Ensembl ENCODE 0.4 +5.0 5047 1.3 GATAD2A TFE3 NR2F1 FOXA3 RARA YY1 GATA3 JUND ATF3 HNF4G PFKFB1 PIR44979
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around PFKFB1 on UCSC Golden Path with GeneCards custom track

Promoters for PFKFB1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000478754 -904 2600 HDGF PKNOX1 ATF1 ARNT ARID4B SIN3A YY1 ZNF766 GATA2 ZNF263

Genomic Location for PFKFB1 Gene

Chromosome:
X
Start:
54,932,961 bp from pter
End:
54,999,597 bp from pter
Size:
66,637 bases
Orientation:
Minus strand

Genomic View for PFKFB1 Gene

Genes around PFKFB1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PFKFB1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PFKFB1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PFKFB1 Gene

Proteins for PFKFB1 Gene

  • Protein details for PFKFB1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P16118-F261_HUMAN
    Recommended name:
    6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 1
    Protein Accession:
    P16118
    Secondary Accessions:
    • B2RA88
    • B4DUN5
    • Q5JXS5
    • Q99951

    Protein attributes for PFKFB1 Gene

    Size:
    471 amino acids
    Molecular mass:
    54681 Da
    Quaternary structure:
    • Homodimer.

    Three dimensional structures from OCA and Proteopedia for PFKFB1 Gene

    Alternative splice isoforms for PFKFB1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PFKFB1 Gene

Post-translational modifications for PFKFB1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for PFKFB1 Gene

Domains & Families for PFKFB1 Gene

Graphical View of Domain Structure for InterPro Entry

P16118

UniProtKB/Swiss-Prot:

F261_HUMAN :
  • In the C-terminal section; belongs to the phosphoglycerate mutase family.
Family:
  • In the C-terminal section; belongs to the phosphoglycerate mutase family.
genes like me logo Genes that share domains with PFKFB1: view

Function for PFKFB1 Gene

Molecular function for PFKFB1 Gene

GENATLAS Biochemistry:
fructose 2,6-P2 synthesis and degradation,bifunctional enzyme,expressed in liver,activated by the binding of HNF3 (A,B,G) to the glucocorticoid response unit (GRU) antagonized by the binding of HNF6 to the gene (GRU)
UniProtKB/Swiss-Prot CatalyticActivity:
Beta-D-fructose 2,6-bisphosphate + H(2)O = D-fructose 6-phosphate + phosphate.
UniProtKB/Swiss-Prot CatalyticActivity:
ATP + D-fructose 6-phosphate = ADP + beta-D-fructose 2,6-bisphosphate.
UniProtKB/Swiss-Prot EnzymeRegulation:
Phosphorylation at Ser-33 inhibits the kinase and activates the bisphosphatase.
UniProtKB/Swiss-Prot Function:
Synthesis and degradation of fructose 2,6-bisphosphate.

Gene Ontology (GO) - Molecular Function for PFKFB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003824 catalytic activity IEA --
GO:0003873 6-phosphofructo-2-kinase activity IEA,TAS 12379646
GO:0004331 fructose-2,6-bisphosphate 2-phosphatase activity IEA,TAS --
GO:0005515 protein binding IPI 10222032
GO:0005524 ATP binding IEA --
genes like me logo Genes that share ontologies with PFKFB1: view
genes like me logo Genes that share phenotypes with PFKFB1: view

Human Phenotype Ontology for PFKFB1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for PFKFB1 Gene

Localization for PFKFB1 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for PFKFB1 Gene COMPARTMENTS Subcellular localization image for PFKFB1 gene
Compartment Confidence
cytosol 5
nucleus 2
plasma membrane 2
endoplasmic reticulum 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for PFKFB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol TAS --
GO:0043540 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase complex IDA 12379646
genes like me logo Genes that share ontologies with PFKFB1: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for PFKFB1 Gene

Pathways & Interactions for PFKFB1 Gene

genes like me logo Genes that share pathways with PFKFB1: view

Pathways by source for PFKFB1 Gene

Gene Ontology (GO) - Biological Process for PFKFB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006000 fructose metabolic process IEA --
GO:0006003 fructose 2,6-bisphosphate metabolic process IEA,IDA 2837207
GO:0006094 gluconeogenesis TAS 12379646
GO:0006096 glycolytic process TAS 12379646
GO:0008152 metabolic process IEA --
genes like me logo Genes that share ontologies with PFKFB1: view

No data available for SIGNOR curated interactions for PFKFB1 Gene

Drugs & Compounds for PFKFB1 Gene

(9) Drugs for PFKFB1 Gene - From: DrugBank and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Phosphoric acid Approved Pharma 0
Water Approved Pharma 0
Adenosine triphosphate Approved Nutra 0
3-Phosphoglycerol Experimental Pharma Target 0
D-Gluco-2,5-Anhydro-1-Deoxy-1-Phosphonohexitol-6-Phosphate Experimental Pharma Target 0

(5) Additional Compounds for PFKFB1 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • Adenosindiphosphorsaeure
  • Adenosine 5'-pyrophosphate
  • Adenosine diphosphate
  • Adenosine pyrophosphate
  • Adenosine-5'-diphosphate
Full agonist, Agonist 58-64-0
Beta-D-Fructose 6-phosphate
  • beta-D-Fructose 6-phosphate
D-Fructose 2,6-bisphosphate
  • b-D-Fructose 2,6-bisphosphate
  • beta-D-Fructose 2,6-bisphosphate
  • D-Fructose 2,6-bisphosphate
  • Fru 2,6-P2, Fructose 2,6-diphosphate
  • Fructose 2,6-bisphosphate
Fructose 6-phosphate
  • D-Fructose 6-phosphate
  • D-Fructose 6-phosphorate
  • D-Fructose 6-phosphoric acid
  • D-Fructose-6-P
  • D-Fructose-6-phosphate
643-13-0
Phosphate
  • NFB Orthophosphate
  • O-Phosphoric acid
  • Ortho-phosphate
  • Orthophosphate (PO43-)
  • Orthophosphate(3-)
14265-44-2
genes like me logo Genes that share compounds with PFKFB1: view

Transcripts for PFKFB1 Gene

mRNA/cDNA for PFKFB1 Gene

(6) REFSEQ mRNAs :
(10) Additional mRNA sequences :
(8) Selected AceView cDNA sequences:
(4) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for PFKFB1 Gene

6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for PFKFB1 Gene

No ASD Table

Relevant External Links for PFKFB1 Gene

GeneLoc Exon Structure for
PFKFB1
ECgene alternative splicing isoforms for
PFKFB1

Expression for PFKFB1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for PFKFB1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PFKFB1 Gene

This gene is overexpressed in Muscle - Skeletal (x15.8), Liver (x15.2), Adipose - Visceral (Omentum) (x5.8), and Adipose - Subcutaneous (x5.7).

Protein differential expression in normal tissues from HIPED for PFKFB1 Gene

This gene is overexpressed in Liver (39.9) and Heart (16.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for PFKFB1 Gene



Protein tissue co-expression partners for PFKFB1 Gene

NURSA nuclear receptor signaling pathways regulating expression of PFKFB1 Gene:

PFKFB1

SOURCE GeneReport for Unigene cluster for PFKFB1 Gene:

Hs.444304

mRNA Expression by UniProt/SwissProt for PFKFB1 Gene:

P16118-F261_HUMAN
Tissue specificity: Liver.
genes like me logo Genes that share expression patterns with PFKFB1: view

Primer Products

Orthologs for PFKFB1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for PFKFB1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PFKFB1 35
  • 100 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia PFKFB1 35
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PFKFB1 34 35
  • 93.06 (n)
cow
(Bos Taurus)
Mammalia PFKFB1 34 35
  • 92.71 (n)
mouse
(Mus musculus)
Mammalia Pfkfb1 34 16 35
  • 91.03 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia PFKFB1 35
  • 91 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Pfkfb1 34
  • 90.59 (n)
chicken
(Gallus gallus)
Aves PFKFB1 35
  • 76 (a)
OneToOne
PFKFB4 34
  • 74.01 (n)
lizard
(Anolis carolinensis)
Reptilia PFKFB1 35
  • 77 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100488795 34
  • 76.33 (n)
Str.5860 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.15996 34
zebrafish
(Danio rerio)
Actinopterygii PFKFB1 (2 of 2) 35
  • 82 (a)
OneToMany
pfkfb1 35
  • 79 (a)
OneToMany
LOC100330415 34
  • 72.94 (n)
wufi11h10 34
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.8022 34
fruit fly
(Drosophila melanogaster)
Insecta Pfrx 35
  • 39 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea Y110A7A.6b 36
  • 55 (a)
Y110A7A.6a 36
  • 54 (a)
Y110A7A.6 35
  • 53 (a)
ManyToMany
K02B2.1 36 35
  • 52 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes FBP26 35 37
  • 45 (a)
OneToMany
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.11319 34
barley
(Hordeum vulgare)
Liliopsida Hv.5420 34
wheat
(Triticum aestivum)
Liliopsida Ta.11134 34
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 64 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.3444 34
Species where no ortholog for PFKFB1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for PFKFB1 Gene

ENSEMBL:
Gene Tree for PFKFB1 (if available)
TreeFam:
Gene Tree for PFKFB1 (if available)

Paralogs for PFKFB1 Gene

Paralogs for PFKFB1 Gene

(4) SIMAP similar genes for PFKFB1 Gene using alignment to 6 proteins:

genes like me logo Genes that share paralogs with PFKFB1: view

Variants for PFKFB1 Gene

Sequence variations from dbSNP and Humsavar for PFKFB1 Gene

SNP ID Clin Chr 0X pos Sequence Context AA Info Type
rs1008681 -- 55,000,413(-) AAGGG(A/C/T)TGGAA upstream-variant-2KB, utr-variant-5-prime
rs1042227 -- 54,949,154(-) CAGTC(A/G)CATGA nc-transcript-variant, reference, missense
rs1054247 -- 54,937,055(-) aatat(A/G)taGGC intron-variant
rs111284671 -- 54,938,492(+) ATTCA(A/G)GAAAC intron-variant
rs111304481 -- 54,941,879(+) CCAGC(A/T)ATCCC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for PFKFB1 Gene

Variant ID Type Subtype PubMed ID
dgv2295e212 CNV loss 25503493
esv2740175 CNV deletion 23290073
esv2740180 CNV deletion 23290073
esv3573984 CNV loss 25503493
esv3576884 CNV gain 25503493
nsv435891 CNV deletion 17901297
nsv6912 CNV deletion 18451855

Variation tolerance for PFKFB1 Gene

Residual Variation Intolerance Score: 50.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.34; 26.47% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PFKFB1 Gene

Human Gene Mutation Database (HGMD)
PFKFB1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PFKFB1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PFKFB1 Gene

Disorders for PFKFB1 Gene

Relevant External Links for PFKFB1

Genetic Association Database (GAD)
PFKFB1
Human Genome Epidemiology (HuGE) Navigator
PFKFB1
Tumor Gene Database (TGDB):
PFKFB1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PFKFB1

No disorders were found for PFKFB1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for PFKFB1 Gene

Publications for PFKFB1 Gene

  1. Localization of human liver 6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase (PFKFB1) within a YAC contig in Xp11.21. (PMID: 9119406) Batra R.S. … Craig I.W. (Genomics 1997) 2 3 22 64
  2. Perioperative genomic profiles using structure-specific oligonucleotide probes. (PMID: 19474452) Hogan K.J. … Domanico M.J. (Clin Med Res 2009) 3 46 64
  3. The DNA sequence of the human X chromosome. (PMID: 15772651) Ross M.T. … Bentley D.R. (Nature 2005) 3 4 64
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  5. Tissue-specific structure/function differentiation of the liver isoform of 6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase. (PMID: 12379646) Lee Y.H. … Hasemann C.A. (J. Biol. Chem. 2003) 3 4 64

Products for PFKFB1 Gene

Sources for PFKFB1 Gene

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