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Aliases for PFKL Gene

Aliases for PFKL Gene

  • Phosphofructokinase, Liver Type 2 3 5
  • Phosphofructo-1-Kinase Isozyme B 3 4
  • 6-Phosphofructokinase Type B 3 4
  • Phosphohexokinase 3 4
  • EC 4 58
  • ATP-PFK 3 4
  • PFK-B 3 4
  • PFK-L 3 4
  • ATP-Dependent 6-Phosphofructokinase, Liver Type 3
  • 6-Phosphofructokinase, Liver Type 3
  • Liver-Type 1-Phosphofructokinase 3
  • EC 2.7.1 58

External Ids for PFKL Gene

Previous GeneCards Identifiers for PFKL Gene

  • GC21P042229
  • GC21P044576
  • GC21P044544
  • GC21P045719
  • GC21P031062

Summaries for PFKL Gene

Entrez Gene Summary for PFKL Gene

  • This gene encodes the liver (L) subunit of an enzyme that catalyzes the conversion of D-fructose 6-phosphate to D-fructose 1,6-bisphosphate, which is a key step in glucose metabolism (glycolysis). This enzyme is a tetramer that may be composed of different subunits encoded by distinct genes in different tissues. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014]

GeneCards Summary for PFKL Gene

PFKL (Phosphofructokinase, Liver Type) is a Protein Coding gene. Diseases associated with PFKL include Glycogen Storage Disease Vii. Among its related pathways are Akt Signaling and Metabolism. GO annotations related to this gene include identical protein binding and monosaccharide binding. An important paralog of this gene is PFKM.

UniProtKB/Swiss-Prot for PFKL Gene

  • Catalyzes the phosphorylation of D-fructose 6-phosphate to fructose 1,6-bisphosphate by ATP, the first committing step of glycolysis.

Gene Wiki entry for PFKL Gene

Additional gene information for PFKL Gene

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

Genomics for PFKL Gene

Regulatory Elements for PFKL Gene

Enhancers for PFKL 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
GH21H044297 1.6 Ensembl ENCODE dbSUPER 23.2 +1.5 1452 8.5 HDGF FOXA2 MLX ZFP64 ARID4B SIN3A DMAP1 ZNF2 ZBTB7B YY1 ENSG00000184441 PFKL RRP1B C21orf2 ENSG00000215447 PWP2 POFUT2 UBE2G2 PIR46789
GH21H044152 1.9 FANTOM5 Ensembl ENCODE dbSUPER 8 -142.9 -142852 8.7 HDGF PKNOX1 SIN3A GLIS2 ZNF143 ZNF207 ATF7 RUNX3 JUNB REST PWP2 ICOSLG ENSG00000184441 C21orf2 PFKL LINC01678 TRPM2 TRAPPC10 CSTB PDXK
GH21H044024 1.5 Ensembl ENCODE dbSUPER 10.1 -274.2 -274236 2.7 HDGF ATF1 ARNT TCF12 ZNF766 ATF7 NCOA1 SMARCB1 ZNF592 SNIP1 PWP2 RRP1B U2AF1 UBE2G2 PFKL TRAPPC10 H2AFZP1
GH21H044169 1.9 FANTOM5 Ensembl ENCODE dbSUPER 7.9 -126.3 -126281 7.7 HDGF PKNOX1 FOXA2 MLX ARID4B DMAP1 YY1 SLC30A9 ZNF766 ZNF143 PWP2 RRP1B ENSG00000184441 SIK1 PFKL ICOSLG TRPM2 TRAPPC10 PDXK ENSG00000237604
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around PFKL on UCSC Golden Path with GeneCards custom track

Promoters for PFKL Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000143046 166 1601 HDGF ARID4B SIN3A DMAP1 ZNF2 ZBTB7B ZNF143 ZNF207 SP3 SP5

Transcription factor binding sites by QIAGEN in the PFKL gene promoter:

Genomic Locations for PFKL Gene

Genomic Locations for PFKL Gene
27,348 bases
Plus strand

Genomic View for PFKL Gene

Genes around PFKL on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for PFKL Gene

Proteins for PFKL Gene

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

    Protein Symbol:
    Recommended name:
    ATP-dependent 6-phosphofructokinase, liver type
    Protein Accession:
    Secondary Accessions:
    • Q96A64
    • Q96IH4
    • Q9BR91

    Protein attributes for PFKL Gene

    780 amino acids
    Molecular mass:
    85018 Da
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420;
    Quaternary structure:
    • Homo- and heterotetramers. Muscle is M4, liver is L4, and red cell is M3L, M2L2, or ML3.
    • Glycosylation may play a role in cancer cell proliferation: inhibition of 6-phosphofructokinase activity and subsequent redirection of the glucose flux through the oxidative pentose phosphate pathway confers a selective growth advantage on cancer cells. Moreover GlcNAcylation is observed in multiple cancer cell lines and tissue samples and GlcNAcylation leads to larger xenografts tunors in mice (PubMed:22923583).
    • In human PFK exists as a system of 3 types of subunits, PFKM (muscle), PFKL (liver) and PFKP (platelet) isoenzymes.

    Alternative splice isoforms for PFKL Gene


neXtProt entry for PFKL Gene

Selected DME Specific Peptides for PFKL Gene


Post-translational modifications for PFKL Gene

  • GlcNAcylation at Ser-529 by OGT decreases enzyme activity, leading to redirect glucose flux through the oxidative pentose phosphate pathway. Glycosylation is stimulated by both hypoxia and glucose deprivation.
  • Ubiquitination at Lys16
  • Glycosylation at Ser529
  • Modification sites at PhosphoSitePlus

Domains & Families for PFKL Gene

Gene Families for PFKL Gene

Human Protein Atlas (HPA):
  • Enzymes
  • Plasma proteins
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for PFKL Gene

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the phosphofructokinase type A (PFKA) family. ATP-dependent PFK group I subfamily. Eukaryotic two domain clade "E" sub-subfamily.
  • Belongs to the phosphofructokinase type A (PFKA) family. ATP-dependent PFK group I subfamily. Eukaryotic two domain clade "E" sub-subfamily.
genes like me logo Genes that share domains with PFKL: view

Function for PFKL Gene

Molecular function for PFKL Gene

GENATLAS Biochemistry:
6-phosphofructo-1-kinase,expressed in liver,fructose metabolism,energy patway
UniProtKB/Swiss-Prot CatalyticActivity:
ATP + D-fructose 6-phosphate = ADP + D-fructose 1,6-bisphosphate.
UniProtKB/Swiss-Prot EnzymeRegulation:
Allosterically activated by ADP, AMP, or fructose 2,6-bisphosphate, and allosterically inhibited by ATP or citrate. GlcNAcylation by OGT overcomes allosteric regulation.
UniProtKB/Swiss-Prot Function:
Catalyzes the phosphorylation of D-fructose 6-phosphate to fructose 1,6-bisphosphate by ATP, the first committing step of glycolysis.

Enzyme Numbers (IUBMB) for PFKL Gene

Gene Ontology (GO) - Molecular Function for PFKL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003824 catalytic activity IEA --
GO:0003872 contributes_to 6-phosphofructokinase activity IMP,EXP 6227635
GO:0005515 protein binding IPI 6444721
GO:0005524 ATP binding IDA 8780720
GO:0016301 kinase activity IEA --
genes like me logo Genes that share ontologies with PFKL: view
genes like me logo Genes that share phenotypes with PFKL: view

Animal Model Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for PFKL

No data available for Phenotypes From GWAS Catalog , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for PFKL Gene

Localization for PFKL Gene

Subcellular locations from UniProtKB/Swiss-Prot for PFKL Gene


Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PFKL gene
Compartment Confidence
extracellular 5
cytosol 5
mitochondrion 3
nucleus 3
cytoskeleton 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Mitochondria (2)
  • Nucleoli (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for PFKL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol IEA,TAS --
GO:0005945 6-phosphofructokinase complex IDA 6444532
GO:0016020 membrane IDA 19946888
genes like me logo Genes that share ontologies with PFKL: view

Pathways & Interactions for PFKL Gene

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

UniProtKB/Swiss-Prot P17858-PFKAL_HUMAN

  • Pathway: Carbohydrate degradation; glycolysis; D-glyceraldehyde 3-phosphate and glycerone phosphate from D-glucose: step 3/4.

Gene Ontology (GO) - Biological Process for PFKL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005975 carbohydrate metabolic process IEA --
GO:0006002 fructose 6-phosphate metabolic process IMP 6227635
GO:0006096 glycolytic process IDA 6227635
GO:0008152 metabolic process IEA --
GO:0009749 response to glucose IDA 22923583
genes like me logo Genes that share ontologies with PFKL: view

No data available for SIGNOR curated interactions for PFKL Gene

Drugs & Compounds for PFKL Gene

(10) Drugs for PFKL Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
CDP Experimental Pharma 0
Cytidine triphosphate Experimental Pharma 0
Guanosine diphosphate Experimental Pharma 0
phosphoenolpyruvate Experimental Pharma 0
Uridine triphosphate Experimental Pharma 0

(10) Additional Compounds for PFKL Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
  • Adenosindiphosphorsaeure
  • Adenosine 5'-pyrophosphate
  • Adenosine diphosphate
  • Adenosine pyrophosphate
  • Adenosine-5'-diphosphate
Full agonist, Agonist 58-64-0
beta-D-Fructose 1,6-bisphosphate
Beta-D-Fructose 6-phosphate
  • beta-D-Fructose 6-phosphate
D-Tagatose 1,6-bisphosphate
  • 1,6-Di-O-phosphono-D-tagatofuranose
  • D-tagatofuranose 1,6-bisphosphate
D-Tagatose 6-phosphate
  • 6-O-Phosphono-D-tagatofuranose
  • D-Tagatofuranose 6-(dihydrogen phosphate)
genes like me logo Genes that share compounds with PFKL: view

Transcripts for PFKL Gene

Unigene Clusters for PFKL Gene

Phosphofructokinase, liver:
Representative Sequences:

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for PFKL

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

ExUns: 1 ^ 2a · 2b ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10a · 10b ^ 11 ^ 12 ^ 13a · 13b ^ 14a · 14b ^ 15a · 15b ^ 16 ^ 17a · 17b ^ 18a ·
SP1: - - -
SP2: - - - - - -
SP3: - - - - - -
SP4: - - - - -
SP8: - - - - - - -
SP9: - - - -
SP10: - - - - - - -
SP11: - - - -
SP12: -
SP13: - - - - - - - - - - - - - - - -
SP16: - -
SP18: - -

ExUns: 18b · 18c ^ 19a · 19b · 19c · 19d ^ 20 ^ 21 ^ 22a · 22b · 22c ^ 23a · 23b ^ 24 ^ 25a · 25b · 25c · 25d ^ 26a · 26b · 26c ^ 27 ^ 28a · 28b · 28c · 28d
SP1: - - - - - -
SP2: - - - - - -
SP3: - - - - - -
SP4: - - - -
SP5: - - - - -
SP6: - - - -
SP7: - -
SP12: - - - - - - -
SP13: - -
SP14: -
SP15: - - - - - - - -
SP17: - -

Relevant External Links for PFKL Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for PFKL Gene

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

Protein differential expression in normal tissues from HIPED for PFKL Gene

This gene is overexpressed in Retina (6.5).

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

Protein tissue co-expression partners for PFKL Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of PFKL Gene:


SOURCE GeneReport for Unigene cluster for PFKL Gene:


Evidence on tissue expression from TISSUES for PFKL Gene

  • Lung(4.7)
  • Liver(4.6)
  • Blood(4.5)
  • Muscle(4.5)
  • Nervous system(4.5)
  • Kidney(4.4)
  • Skin(3.7)
  • Eye(2.9)
  • Heart(2)
genes like me logo Genes that share expression patterns with PFKL: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for PFKL Gene

Orthologs for PFKL Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for PFKL Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia PFKL 33 34
  • 98.76 (n)
(Ornithorhynchus anatinus)
Mammalia PFKL 34
  • 90 (a)
(Canis familiaris)
Mammalia PFKL 33 34
  • 89.74 (n)
(Bos Taurus)
Mammalia PFKL 33 34
  • 89.1 (n)
(Monodelphis domestica)
Mammalia PFKL 34
  • 89 (a)
(Rattus norvegicus)
Mammalia Pfkl 33
  • 88.59 (n)
(Mus musculus)
Mammalia Pfkl 33 16 34
  • 87.22 (n)
(Gallus gallus)
Aves PFKL 33 34
  • 82.61 (n)
(Anolis carolinensis)
Reptilia PFKL 34
  • 87 (a)
(Danio rerio)
Actinopterygii PFKL (2 of 2) 34
  • 78 (a)
LOC570106 33
  • 73.5 (n)
pfklb 34
  • 73 (a)
-- 33
fruit fly
(Drosophila melanogaster)
Insecta Pfk 35 34
  • 51 (a)
(Caenorhabditis elegans)
Secernentea Y71H10A.1a 35
  • 56 (a)
Y71H10A.1b 35
  • 56 (a)
pfk-1 34
  • 53 (a)
pfk-2 34
  • 41 (a)
C50F4.2 35
  • 39 (a)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AFL185W 33
  • 52.71 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F06248g 33
  • 50.22 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PFK2 33 34
  • 49.52 (n)
PFK1 34 36
  • 34 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU00629 33
  • 54.93 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes pfk1 33
  • 52.29 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 52 (a)
Species where no ortholog for PFKL was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for PFKL Gene

Gene Tree for PFKL (if available)
Gene Tree for PFKL (if available)

Paralogs for PFKL Gene

Paralogs for PFKL Gene

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

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

Variants for PFKL Gene

Sequence variations from dbSNP and Humsavar for PFKL Gene

SNP ID Clin Chr 21 pos Sequence Context AA Info Type
rs1000081008 -- 44,298,947(+) CACCA(A/T)GCCCG upstream-variant-2KB
rs1000209015 -- 44,319,103(+) CCTGC(-/CTGGAG)CTGGA intron-variant
rs1000403385 -- 44,316,350(+) TGTGG(A/G)CCTGG intron-variant
rs1000418204 -- 44,317,191(+) TGTAT(A/G)AGGGT intron-variant
rs1000422575 -- 44,320,671(+) GTGCA(A/G)TGAGC intron-variant

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

Variant ID Type Subtype PubMed ID
nsv953646 CNV deletion 24416366
nsv587780 CNV loss 21841781
nsv587779 CNV loss 21841781
nsv587778 CNV gain 21841781
nsv587775 CNV loss 21841781
nsv587774 CNV loss 21841781
nsv587740 CNV loss 21841781
nsv526673 CNV loss 19592680
nsv518709 CNV loss 19592680
nsv511633 CNV gain 21212237
nsv509800 CNV insertion 20534489
nsv1058359 CNV gain 25217958
esv3647130 CNV gain 21293372
esv33817 CNV loss 17666407
esv3353185 CNV insertion 20981092
esv2723641 CNV deletion 23290073
esv2723640 CNV deletion 23290073
esv2723638 CNV deletion 23290073
esv24065 CNV loss 19812545
esv2347291 CNV deletion 18987734
esv1005792 CNV gain 20482838
dgv7886n54 CNV loss 21841781

Variation tolerance for PFKL Gene

Residual Variation Intolerance Score: 19.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.64; 72.71% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PFKL Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

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

Disorders for PFKL Gene

MalaCards: The human disease database

(1) MalaCards diseases for PFKL Gene - From: DISEASES

Disorder Aliases PubMed IDs
glycogen storage disease vii
  • glycogen storage disease type vii
- elite association - COSMIC cancer census association via MalaCards
Search PFKL in MalaCards View complete list of genes associated with diseases

Genatlas disease for PFKL Gene

hemolytic anemia

Relevant External Links for PFKL

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with PFKL: view

No data available for UniProtKB/Swiss-Prot for PFKL Gene

Publications for PFKL Gene

  1. Phosphofructokinase 1 glycosylation regulates cell growth and metabolism. (PMID: 22923583) Yi W … Hsieh-Wilson LC (Science (New York, N.Y.) 2012) 3 4 60
  2. The human AIRE gene at chromosome 21q22 is a genetic determinant for the predisposition to rheumatoid arthritis in Japanese population. (PMID: 21505073) Terao C … Matsuda F (Human molecular genetics 2011) 3 45 60
  3. Physiogenomic analysis of statin-treated patients: domain-specific counter effects within the ACACB gene on low-density lipoprotein cholesterol? (PMID: 20602615) Ruaño G … Wu AH (Pharmacogenomics 2010) 3 45 60
  4. Physiogenomic comparison of edema and BMI in patients receiving rosiglitazone or pioglitazone. (PMID: 18996102) Ruaño G … Hanks S (Clinica chimica acta; international journal of clinical chemistry 2009) 3 45 60
  5. Physiogenomic comparison of human fat loss in response to diets restrictive of carbohydrate or fat. (PMID: 18254975) Seip RL … Ruaño G (Nutrition & metabolism 2008) 3 22 60

Products for PFKL Gene

Sources for PFKL Gene

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