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Aliases for PFKL Gene

Aliases for PFKL Gene

  • Phosphofructokinase, Liver 2 3
  • Phosphofructo-1-Kinase Isozyme B 3 4
  • 6-Phosphofructokinase Type B 3 4
  • Phosphohexokinase 3 4
  • EC 2.7.1.11 4 63
  • 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 63

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) is a Protein Coding gene. Diseases associated with PFKL include autoimmune polyendocrine syndrome type 1. Among its related pathways are Akt Signaling and Metabolism. GO annotations related to this gene include identical protein binding and fructose 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

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

Genomics for PFKL Gene

Regulatory Elements for PFKL Gene

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

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for PFKL Gene

Start:
44,300,042 bp from pter
End:
44,327,378 bp from pter
Size:
27,337 bases
Orientation:
Plus strand

Genomic View for PFKL Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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:
    P17858-PFKAL_HUMAN
    Recommended name:
    ATP-dependent 6-phosphofructokinase, liver type
    Protein Accession:
    P17858
    Secondary Accessions:
    • Q96A64
    • Q96IH4
    • Q9BR91

    Protein attributes for PFKL Gene

    Size:
    780 amino acids
    Molecular mass:
    85018 Da
    Cofactor:
    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
    Miscellaneous:
    • 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

    UniProtKB/Swiss-Prot:

neXtProt entry for PFKL Gene

Proteomics data for PFKL Gene at MOPED

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 Lys8 and Lys16
  • Glycosylation at Ser529
  • Modification sites at PhosphoSitePlus

Other Protein References for PFKL Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

Domains for PFKL Gene

Protein Domains for PFKL Gene

Suggested Antigen Peptide Sequences for PFKL Gene

Graphical View of Domain Structure for InterPro Entry

P17858

UniProtKB/Swiss-Prot:

PFKAL_HUMAN :
  • P17858
Domain:
  • 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

No data available for Gene Families for PFKL Gene

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:0003872 contributes_to 6-phosphofructokinase activity IMP 6227635
GO:0005515 protein binding IPI 21988832
GO:0005524 ATP binding IDA 8780720
GO:0019900 kinase binding IPI 6444721
GO:0042802 identical protein binding IPI 25416956
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

CRISPR Products

miRNA Products

Inhibitory RNA Products

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

In Situ Assay Products

Flow Cytometry Products

No data available for Animal Models , Transcription Factor Targeting and HOMER Transcription for PFKL Gene

Localization for PFKL Gene

Subcellular locations from UniProtKB/Swiss-Prot for PFKL Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for PFKL Gene COMPARTMENTS Subcellular localization image for PFKL gene
Compartment Confidence
cytosol 5
nucleus 2
chloroplast 1
mitochondrion 1

Gene Ontology (GO) - Cellular Components for PFKL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm --
GO:0005829 cytosol TAS --
GO:0005945 6-phosphofructokinase complex IDA 6444532
GO:0016020 membrane IDA 19946888
GO:0070062 extracellular exosome IDA 19056867
genes like me logo Genes that share ontologies with PFKL: view

Pathways for PFKL Gene

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

PCR Array Products

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 TAS --
GO:0006002 fructose 6-phosphate metabolic process IMP 6227635
GO:0006006 glucose metabolic process TAS --
GO:0006096 glycolytic process IDA 22923583
GO:0009749 response to glucose IDA 22923583
genes like me logo Genes that share ontologies with PFKL: view

Compounds for PFKL Gene

(16) HMDB Compounds for PFKL Gene

Compound Synonyms Cas Number PubMed IDs
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
CDP
  • CDP
63-38-7
Cytidine triphosphate
  • cytidine 5'-(tetrahydrogen triphosphate)
65-47-4

(3) Novoseek inferred chemical compound relationships for PFKL Gene

Compound -log(P) Hits PubMed IDs
pyruvate 31.1 1
lactate 10.6 2
glucose 3.59 1
genes like me logo Genes that share compounds with PFKL: view

Transcripts for PFKL Gene

Unigene Clusters for PFKL Gene

Phosphofructokinase, liver:
Representative Sequences:

CRISPR Products

miRNA Products

Inhibitory RNA Products

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

Primer Products

Flow Cytometry Products

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: - - - - -
SP5:
SP6:
SP7:
SP8: - - - - - - -
SP9: - - - -
SP10: - - - - - - -
SP11: - - - -
SP12: -
SP13: - - - - - - - - - - - - - - - -
SP14:
SP15:
SP16: - -
SP17:
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: - -
SP8:
SP9:
SP10:
SP11:
SP12: - - - - - - -
SP13: - -
SP14: -
SP15: - - - - - - - -
SP16:
SP17: - -
SP18:

Relevant External Links for PFKL Gene

GeneLoc Exon Structure for
PFKL
ECgene alternative splicing isoforms for
PFKL

Expression for PFKL Gene

mRNA expression in normal human tissues for PFKL Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for PFKL Gene

SOURCE GeneReport for Unigene cluster for PFKL Gene Hs.255093

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

In Situ Assay Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt 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
chimpanzee
(Pan troglodytes)
Mammalia PFKL 35
  • 98.76 (n)
  • 100 (a)
PFKL 36
  • 92 (a)
OneToOne
cow
(Bos Taurus)
Mammalia PFKL 35
  • 89.1 (n)
  • 94.1 (a)
PFKL 36
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PFKL 35
  • 89.74 (n)
  • 93.59 (a)
PFKL 36
  • 94 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Pfkl 35
  • 87.22 (n)
  • 94.23 (a)
Pfkl 16
Pfkl 36
  • 94 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia PFKL 36
  • 89 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PFKL 36
  • 90 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Pfkl 35
  • 88.59 (n)
  • 94.23 (a)
chicken
(Gallus gallus)
Aves PFKL 35
  • 82.61 (n)
  • 86.41 (a)
PFKL 36
  • 87 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PFKL 36
  • 87 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii -- 35
LOC570106 35
  • 73.5 (n)
  • 77.56 (a)
PFKL (2 of 2) 36
  • 78 (a)
OneToMany
pfklb 36
  • 73 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta Pfk 36
  • 46 (a)
OneToMany
Pfk 37
  • 51 (a)
worm
(Caenorhabditis elegans)
Secernentea pfk-1 36
  • 53 (a)
ManyToMany
pfk-2 36
  • 41 (a)
ManyToMany
Y71H10A.1a 37
  • 56 (a)
Y71H10A.1b 37
  • 56 (a)
C50F4.2 37
  • 39 (a)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AFL185W 35
  • 52.71 (n)
  • 46.31 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PFK1 36
  • 34 (a)
ManyToMany
PFK2 35
  • 49.52 (n)
  • 46.39 (a)
PFK2 36
  • 35 (a)
ManyToMany
PFK2 38
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F06248g 35
  • 50.22 (n)
  • 45.69 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU00629 35
  • 54.93 (n)
  • 47.87 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes pfk1 35
  • 52.29 (n)
  • 48.16 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 52 (a)
OneToMany
Species with no ortholog for PFKL:
  • 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

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

Paralogs for PFKL Gene

Paralogs for PFKL Gene

Selected 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 MAF
rs743481 -- 44,323,939(+) ACACC(G/T)GCCTG intron-variant
rs743482 -- 44,324,092(+) GCCAC(C/T)TCCAG intron-variant
rs743483 -- 44,324,095(+) ACTTC(C/T)AGGTC intron-variant
rs743484 -- 44,324,780(-) GGGCC(A/G)GCAGG intron-variant
rs743485 -- 44,317,987(+) GTGGC(C/T)GGTTC intron-variant

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

Variant ID Type Subtype PubMed ID
esv33817 CNV Loss 17666407
nsv913898 CNV Loss 21882294
nsv913906 CNV Loss 21882294
nsv913907 CNV Loss 21882294
esv2723638 CNV Deletion 23290073
dgv4769n71 CNV Loss 21882294
dgv4770n71 CNV Loss 21882294
nsv913912 CNV Loss 21882294
dgv4771n71 CNV Loss 21882294
dgv4772n71 CNV Loss 21882294
dgv4773n71 CNV Loss 21882294
nsv913923 CNV Loss 21882294
dgv4774n71 CNV Loss 21882294
nsv509800 CNV Insertion 20534489
nsv526673 CNV Loss 19592680
esv24065 CNV Loss 19812545
nsv511633 CNV Gain 21212237
esv2723640 CNV Deletion 23290073
nsv518709 CNV Loss 19592680
esv2347291 CNV Deletion 18987734
esv2723641 CNV Deletion 23290073
nsv913943 CNV Loss 21882294
esv1005792 CNV Gain 20482838

Relevant External Links for PFKL Gene

HapMap Linkage Disequilibrium report
PFKL

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

Disorders for PFKL Gene

MalaCards: The human disease database

MalaCards: The human disease database. (1) Diseases for PFKL Gene including...

Search for PFKL Gene in MalaCards »

(1) Novoseek inferred disease relationships for PFKL Gene

Disease -log(P) Hits PubMed IDs
down syndrome 51.6 5

Genatlas disease for PFKL Gene

Hemolytic anemia

Relevant External Links for PFKL

Genetic Association Database (GAD)
PFKL
Human Genome Epidemiology (HuGE) Navigator
PFKL
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. The structure of the human liver-type phosphofructokinase gene. (PMID: 2139864) Elson A. … Groner Y. (Genomics 1990) 3 4
  2. The primary structure of human liver type phosphofructokinase and its comparison with other types of PFK. (PMID: 2533063) Levanon D. … Groner Y. (DNA 1989) 3 4
  3. Gene dosage and Down's syndrome: metabolic and enzymatic changes in PC12 cells overexpressing transfected human liver-type phosphofructokinase. (PMID: 1533471) Elson A. … Groner Y. (Somat. Cell Mol. Genet. 1992) 3 23
  4. Dinucleotide repeat polymorphism at the human liver-type 6-phosphofructokinase (PFKL) gene. (PMID: 1828296) Polymeropoulos M.H. … Merril C.R. (Nucleic Acids Res. 1991) 3 23
  5. Physiogenomic comparison of human fat loss in response to diets restrictive of carbohydrate or fat. (PMID: 18254975) Seip R.L. … RuaA+o G. (Nutr Metab (Lond) 2008) 3 23

Products for PFKL Gene

  • Addgene plasmids for PFKL

Sources for PFKL Gene

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