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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
  • 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 Glycosaminoglycan metabolism. GO annotations related to this gene include identical protein binding and kinase binding. An important paralog of this gene is PFKFB2.

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

Promoters for PFKFB1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around PFKFB1 on UCSC Golden Path with GeneCards custom track

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

Proteomics data for PFKFB1 Gene at MOPED

Post-translational modifications for PFKFB1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for PFKFB1 Gene

Antibody Products

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:0070095 fructose-6-phosphate 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

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

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components 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:0005975 carbohydrate metabolic process TAS --
GO:0006000 fructose metabolic process IEA --
GO:0006003 fructose 2,6-bisphosphate metabolic process IEA,IDA 2837207
GO:0006006 glucose metabolic process TAS --
GO:0006112 energy reserve metabolic process TAS --
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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
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
fructose-6-phosphate Experimental Pharma Target 0
Guanosine triphosphate Experimental Pharma Target 0

(7) 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

(10) 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:

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 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



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

Protein tissue co-expression partners for PFKFB1 Gene

Primer Products

In Situ Assay 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
cow
(Bos Taurus)
Mammalia PFKFB1 35
  • 92.71 (n)
  • 97.03 (a)
PFKFB1 36
  • 97 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PFKFB1 35
  • 93.06 (n)
  • 98.19 (a)
PFKFB1 36
  • 98 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Pfkfb1 35
  • 91.03 (n)
  • 95.25 (a)
Pfkfb1 16
Pfkfb1 36
  • 94 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Pfkfb1 35
  • 90.59 (n)
  • 95.33 (a)
oppossum
(Monodelphis domestica)
Mammalia PFKFB1 36
  • 94 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PFKFB1 36
  • 91 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia PFKFB1 36
  • 100 (a)
OneToOne
chicken
(Gallus gallus)
Aves PFKFB4 35
  • 74.01 (n)
  • 80.99 (a)
PFKFB1 36
  • 76 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PFKFB1 36
  • 77 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100488795 35
  • 76.33 (n)
  • 84.43 (a)
Str.5860 35
African clawed frog
(Xenopus laevis)
Amphibia Xl.15996 35
zebrafish
(Danio rerio)
Actinopterygii LOC100330415 35
  • 72.94 (n)
  • 79.65 (a)
wufi11h10 35
pfkfb1 36
  • 79 (a)
OneToMany
PFKFB1 (2 of 2) 36
  • 82 (a)
OneToMany
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.8022 35
fruit fly
(Drosophila melanogaster)
Insecta Pfrx 36
  • 39 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea K02B2.1 37
  • 52 (a)
Y110A7A.6a 37
  • 54 (a)
Y110A7A.6b 37
  • 55 (a)
K02B2.1 36
  • 49 (a)
ManyToMany
Y110A7A.6 36
  • 53 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes FBP26 36
  • 45 (a)
OneToMany
FBP26 38
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.11319 35
barley
(Hordeum vulgare)
Liliopsida Hv.5420 35
wheat
(Triticum aestivum)
Liliopsida Ta.11134 35
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.3444 35
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 64 (a)
OneToMany
Species with no ortholog for PFKFB1:
  • 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
rs742049 -- 54,937,427(+) taaag(A/T)aattt intron-variant
rs1122799 -- 54,979,417(+) GTATA(C/T)GGTAG intron-variant
rs1042227 -- 54,949,154(-) CAGTC(A/G)CATGA nc-transcript-variant, reference, missense, utr-variant-3-prime
rs1054247 -- 54,937,055(-) aatat(A/G)taGGC intron-variant
rs2005463 -- 54,949,952(-) AATAC(A/G)TGTGT intron-variant

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

Variant ID Type Subtype PubMed ID
nsv435891 CNV Deletion 17901297
esv2740175 CNV Deletion 23290073
nsv6912 CNV Loss 18451855
esv2740180 CNV Deletion 23290073

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

HapMap Linkage Disequilibrium report
PFKFB1
Human Gene Mutation Database (HGMD)
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 23 67
  2. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T. … Vidal M. (Cell 2014) 3
  3. Interactions of pathological hallmark proteins: tubulin polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PMID: 21832049) OlA!h J. … OvA!di J. (J. Biol. Chem. 2011) 3
  4. Perioperative genomic profiles using structure-specific oligonucleotide probes. (PMID: 19474452) Hogan K.J. … Domanico M.J. (Clin Med Res 2009) 3
  5. Protein interaction data set highlighted with human Ras-MAPK/PI3K signaling pathways. (PMID: 18624398) Wang J. … He F. (J. Proteome Res. 2008) 3

Products for PFKFB1 Gene

Sources for PFKFB1 Gene

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