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Aliases for PFKFB1 Gene

Aliases for PFKFB1 Gene

  • 6-Phosphofructo-2-Kinase/Fructose-2,6-Biphosphatase 1 2 3
  • PFRX 3 4 6
  • 6PF-2-K/Fru-2,6-P2ase 1 3 4
  • PFK/FBPase 1 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 Akt Signaling and Metabolism. GO annotations related to this gene include identical protein binding and fructose-2,6-bisphosphate 2-phosphatase activity. An important paralog of this gene is PFKFB3.

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

Genomic Location for PFKFB1 Gene

Start:
54,932,961 bp from pter
End:
54,998,534 bp from pter
Size:
65,574 bases
Orientation:
Minus strand

Genomic View for PFKFB1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for PFKFB1 Gene

Domains for PFKFB1 Gene

Graphical View of Domain Structure for InterPro Entry

P16118

UniProtKB/Swiss-Prot:

F261_HUMAN :
  • P16118
Family:
  • In the C-terminal section; belongs to the phosphoglycerate mutase family.
genes like me logo Genes that share domains with PFKFB1: view

No data available for Gene Families for PFKFB1 Gene

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:0003873 6-phosphofructo-2-kinase activity TAS 12379646
GO:0004331 fructose-2,6-bisphosphate 2-phosphatase activity TAS --
GO:0005515 protein binding IPI 10222032
GO:0005524 ATP binding IEA --
GO:0016301 kinase activity --
genes like me logo Genes that share ontologies with PFKFB1: view

Phenotypes for PFKFB1 Gene

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

Animal Model Products

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for PFKFB1

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , miRNA , Transcription Factor Targeting 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
golgi apparatus 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 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 IDA 2837207
GO:0006006 glucose metabolic process TAS --
GO:0006094 gluconeogenesis TAS 12379646
genes like me logo Genes that share ontologies with PFKFB1: view

Compounds for PFKFB1 Gene

(8) HMDB Compounds for PFKFB1 Gene

Compound Synonyms Cas Number PubMed IDs
2-Phosphoglyceric acid
  • 2-(dihydrogen phosphate)Glycerate
2553-59-5
Adenosine triphosphate
  • 5'-(tetrahydrogen triphosphate) Adenosine
56-65-5
ADP
  • adenosindiphosphorsaeure
58-64-0
Beta-D-Fructose 6-phosphate
  • beta-D-Fructose 6-phosphate
Not Available
D-Fructose 2,6-bisphosphate
  • D-Fructose 2,6-bisphosphate
Not Available
genes like me logo Genes that share compounds with PFKFB1: view

Transcripts for PFKFB1 Gene

mRNA/cDNA for PFKFB1 Gene

(10) REFSEQ mRNAs :
(8) Selected AceView cDNA sequences:
(10) Additional mRNA 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:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for PFKFB1

Primer Products

  • OriGene qSTAR qPCR primer pairs in human,mouse,rat for PFKFB1

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 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 (15.8), Liver (15.2), Adipose - Visceral (Omentum) (5.8), and Adipose - Subcutaneous (5.7).

Integrated Proteomics: protein expression 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 expressions with PFKFB1: view

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
chimpanzee
(Pan troglodytes)
Mammalia PFKFB1 36
  • 100 (a)
OneToOne
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
oppossum
(Monodelphis domestica)
Mammalia PFKFB1 36
  • 94 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PFKFB1 36
  • 91 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Pfkfb1 35
  • 90.59 (n)
  • 95.33 (a)
chicken
(Gallus gallus)
Aves PFKFB1 36
  • 76 (a)
OneToOne
PFKFB4 35
  • 74.01 (n)
  • 80.99 (a)
lizard
(Anolis carolinensis)
Reptilia PFKFB1 36
  • 77 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.15996 35
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100488795 35
  • 76.33 (n)
  • 84.43 (a)
Str.5860 35
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.8022 35
zebrafish
(Danio rerio)
Actinopterygii LOC100330415 35
  • 72.94 (n)
  • 79.65 (a)
pfkfb1 36
  • 79 (a)
OneToMany
PFKFB1 (2 of 2) 36
  • 82 (a)
OneToMany
wufi11h10 35
fruit fly
(Drosophila melanogaster)
Insecta Pfrx 36
  • 39 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea K02B2.1 36
  • 49 (a)
ManyToMany
Y110A7A.6 36
  • 53 (a)
ManyToMany
Y110A7A.6b 37
  • 55 (a)
K02B2.1 37
  • 52 (a)
Y110A7A.6a 37
  • 54 (a)
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

Selected 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 MAF
rs742049 -- 54,937,427(+) taaag(A/T)aattt intron-variant
rs1042227 -- 54,949,154(-) CAGTC(A/G)CATGA reference, missense, nc-transcript-variant
rs1054247 -- 54,937,055(-) aatat(A/G)taGGC intron-variant
rs1122799 -- 54,979,417(+) GTATA(C/T)GGTAG 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

Relevant External Links for PFKFB1 Gene

HapMap Linkage Disequilibrium report
PFKFB1
Human Gene Mutation Database (HGMD)
PFKFB1
Locus Specific Mutation Databases (LSDB)
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
genes like me logo Genes that share disorders with PFKFB1: view

No data available for UniProtKB/Swiss-Prot 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
  2. Sequence of human liver 6-phosphofructo-2-kinase/fructose-2,6- bisphosphatase. (PMID: 2163524) Lange A.J. … Pilkis S.J. (Nucleic Acids Res. 1990) 3 4
  3. Molecular cloning, sequence analysis, and expression of a human liver cDNA coding for fructose-6-P,2-kinase:fructose-2,6-bisphosphatase. (PMID: 2837207) Algaier J. … Uyeda K. (Biochem. Biophys. Res. Commun. 1988) 3 4
  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
  5. The DNA sequence of the human X chromosome. (PMID: 15772651) Ross M.T. … Bentley D.R. (Nature 2005) 3 4

Products for PFKFB1 Gene

Sources for PFKFB1 Gene

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