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PFKL phosphofructokinase, liver type [ Homo sapiens (human) ]

Gene ID: 5211, updated on 7-Jun-2020

Summary

Official Symbol
PFKLprovided by HGNC
Official Full Name
phosphofructokinase, liver typeprovided by HGNC
Primary source
HGNC:HGNC:8876
See related
Ensembl:ENSG00000141959 MIM:171860
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
PFK-B; PFK-L; ATP-PFK
Summary
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]
Expression
Ubiquitous expression in kidney (RPKM 49.4), duodenum (RPKM 37.4) and 25 other tissues See more
Orthologs

Genomic context

See PFKL in Genome Data Viewer
Location:
21q22.3
Exon count:
27
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 21 NC_000021.9 (44300040..44327373)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 21 NC_000021.8 (45719925..45747261)

Chromosome 21 - NC_000021.9Genomic Context describing neighboring genes Neighboring gene DNMT3L antisense RNA 1 Neighboring gene DNA methyltransferase 3 like Neighboring gene autoimmune regulator Neighboring gene cilia and flagella associated protein 410 Neighboring gene transient receptor potential cation channel subfamily M member 2 Neighboring gene TRPM2 antisense RNA

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
The human AIRE gene at chromosome 21q22 is a genetic determinant for the predisposition to rheumatoid arthritis in Japanese population.
NHGRI GWA Catalog

HIV-1 interactions

Replication interactions

Interaction Pubs
Knockdown of phosphofructokinase, liver (PFKL) by siRNA inhibits the early stages of HIV-1 replication in 293T cells infected with VSV-G pseudotyped HIV-1 PubMed

Protein interactions

Protein Gene Interaction Pubs
Rev rev HIV-1 Rev interacting protein, phosphofructokinase, liver (PFKL), is identified by the in-vitro binding experiments involving cytosolic or nuclear extracts from HeLa cells PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ30173, FLJ40909, DKFZp686G1648, DKFZp686L2097

Gene Ontology Provided by GOA

Function Evidence Code Pubs
6-phosphofructokinase activity IDA
Inferred from Direct Assay
more info
PubMed 
contributes_to 6-phosphofructokinase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
AMP binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
ATP binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
ATP binding IDA
Inferred from Direct Assay
more info
PubMed 
fructose binding IDA
Inferred from Direct Assay
more info
PubMed 
fructose-6-phosphate binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
fructose-6-phosphate binding IDA
Inferred from Direct Assay
more info
PubMed 
identical protein binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
kinase binding IPI
Inferred from Physical Interaction
more info
PubMed 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
monosaccharide binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
canonical glycolysis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
canonical glycolysis TAS
Traceable Author Statement
more info
 
fructose 1,6-bisphosphate metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
fructose 1,6-bisphosphate metabolic process IDA
Inferred from Direct Assay
more info
PubMed 
fructose 6-phosphate metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
fructose 6-phosphate metabolic process IDA
Inferred from Direct Assay
more info
PubMed 
fructose 6-phosphate metabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
glucose catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
glycolytic process IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of insulin secretion IEA
Inferred from Electronic Annotation
more info
 
neutrophil degranulation TAS
Traceable Author Statement
more info
 
protein homotetramerization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
response to glucose IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
6-phosphofructokinase complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
6-phosphofructokinase complex IDA
Inferred from Direct Assay
more info
PubMed 
cytosol HDA PubMed 
cytosol TAS
Traceable Author Statement
more info
 
extracellular exosome HDA PubMed 
extracellular region TAS
Traceable Author Statement
more info
 
ficolin-1-rich granule lumen TAS
Traceable Author Statement
more info
 
membrane HDA PubMed 
membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
secretory granule lumen TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
ATP-dependent 6-phosphofructokinase, liver type
Names
6-phosphofructokinase type B
6-phosphofructokinase, liver type
liver-type 1-phosphofructokinase
phosphofructo-1-kinase isozyme B
phosphohexokinase
NP_001002021.2
NP_002617.3
XP_005261192.1
XP_005261194.1
XP_006724074.1
XP_011527905.1
XP_016883857.1
XP_016883858.1
XP_016883859.1
XP_016883861.1
XP_024307853.1

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_034033.1 RefSeqGene

    Range
    5020..32340
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001002021.3NP_001002021.2  ATP-dependent 6-phosphofructokinase, liver type isoform a

    See identical proteins and their annotated locations for NP_001002021.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the shorter isoform (a).
    Source sequence(s)
    BC006422, BC018295, BU177678, BX351711, HY111158
    UniProtKB/Swiss-Prot
    P17858
    UniProtKB/TrEMBL
    Q7L2M7
    Conserved Domains (1) summary
    cd00764
    Location:79823
    Eukaryotic_PFK; Phosphofructokinase, a key regulatory enzyme in glycolysis, catalyzes the phosphorylation of fructose-6-phosphate to fructose-1,6-biphosphate. The members belong to a subfamily of the PFKA family (cd00363) and include eukaryotic ATP-dependent ...
  2. NM_002626.6NP_002617.3  ATP-dependent 6-phosphofructokinase, liver type isoform b

    See identical proteins and their annotated locations for NP_002617.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks three alternate exons in the 5' region and initiates translation at an alternate upstream start codon, compared to variant 1. The encoded isoform (b) has a distinct N-terminus and is longer than isoform a.
    Source sequence(s)
    BC018295, BU177678, BX351711, CB997055
    Consensus CDS
    CCDS33582.1
    UniProtKB/Swiss-Prot
    P17858
    UniProtKB/TrEMBL
    Q7L2M7
    Related
    ENSP00000269848.6, ENST00000349048.9
    Conserved Domains (1) summary
    cd00764
    Location:13773
    Eukaryotic_PFK; Phosphofructokinase, a key regulatory enzyme in glycolysis, catalyzes the phosphorylation of fructose-6-phosphate to fructose-1,6-biphosphate. The members belong to a subfamily of the PFKA family (cd00363) and include eukaryotic ATP-dependent ...

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000021.9 Reference GRCh38.p13 Primary Assembly

    Range
    44300040..44327373
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005261135.3XP_005261192.1  ATP-dependent 6-phosphofructokinase, liver type isoform X3

    Conserved Domains (2) summary
    cd00764
    Location:13796
    Eukaryotic_PFK; Phosphofructokinase, a key regulatory enzyme in glycolysis, catalyzes the phosphorylation of fructose-6-phosphate to fructose-1,6-biphosphate. The members belong to a subfamily of the PFKA family (cd00363) and include eukaryotic ATP-dependent ...
    TIGR02478
    Location:16778
    6PF1K_euk; 6-phosphofructokinase, eukaryotic type
  2. XM_024452085.1XP_024307853.1  ATP-dependent 6-phosphofructokinase, liver type isoform X2

    Conserved Domains (1) summary
    cd00764
    Location:79823
    Eukaryotic_PFK; Phosphofructokinase, a key regulatory enzyme in glycolysis, catalyzes the phosphorylation of fructose-6-phosphate to fructose-1,6-biphosphate. The members belong to a subfamily of the PFKA family (cd00363) and include eukaryotic ATP-dependent ...
  3. XM_017028369.1XP_016883858.1  ATP-dependent 6-phosphofructokinase, liver type isoform X4

    Conserved Domains (2) summary
    cd00764
    Location:6750
    Eukaryotic_PFK; Phosphofructokinase, a key regulatory enzyme in glycolysis, catalyzes the phosphorylation of fructose-6-phosphate to fructose-1,6-biphosphate. The members belong to a subfamily of the PFKA family (cd00363) and include eukaryotic ATP-dependent ...
    TIGR02478
    Location:6732
    6PF1K_euk; 6-phosphofructokinase, eukaryotic type
  4. XM_006724011.1XP_006724074.1  ATP-dependent 6-phosphofructokinase, liver type isoform X1

    Conserved Domains (2) summary
    cd00764
    Location:79846
    Eukaryotic_PFK; Phosphofructokinase, a key regulatory enzyme in glycolysis, catalyzes the phosphorylation of fructose-6-phosphate to fructose-1,6-biphosphate. The members belong to a subfamily of the PFKA family (cd00363) and include eukaryotic ATP-dependent ...
    TIGR02478
    Location:79828
    6PF1K_euk; 6-phosphofructokinase, eukaryotic type
  5. XM_017028370.1XP_016883859.1  ATP-dependent 6-phosphofructokinase, liver type isoform X5

    Conserved Domains (2) summary
    cd00764
    Location:1744
    Eukaryotic_PFK; Phosphofructokinase, a key regulatory enzyme in glycolysis, catalyzes the phosphorylation of fructose-6-phosphate to fructose-1,6-biphosphate. The members belong to a subfamily of the PFKA family (cd00363) and include eukaryotic ATP-dependent ...
    TIGR02478
    Location:1726
    6PF1K_euk; 6-phosphofructokinase, eukaryotic type
  6. XM_017028368.1XP_016883857.1  ATP-dependent 6-phosphofructokinase, liver type isoform X1

    Conserved Domains (2) summary
    cd00764
    Location:79846
    Eukaryotic_PFK; Phosphofructokinase, a key regulatory enzyme in glycolysis, catalyzes the phosphorylation of fructose-6-phosphate to fructose-1,6-biphosphate. The members belong to a subfamily of the PFKA family (cd00363) and include eukaryotic ATP-dependent ...
    TIGR02478
    Location:79828
    6PF1K_euk; 6-phosphofructokinase, eukaryotic type
  7. XM_017028372.1XP_016883861.1  ATP-dependent 6-phosphofructokinase, liver type isoform X5

    Conserved Domains (2) summary
    cd00764
    Location:1744
    Eukaryotic_PFK; Phosphofructokinase, a key regulatory enzyme in glycolysis, catalyzes the phosphorylation of fructose-6-phosphate to fructose-1,6-biphosphate. The members belong to a subfamily of the PFKA family (cd00363) and include eukaryotic ATP-dependent ...
    TIGR02478
    Location:1726
    6PF1K_euk; 6-phosphofructokinase, eukaryotic type
  8. XM_005261137.4XP_005261194.1  ATP-dependent 6-phosphofructokinase, liver type isoform X5

    See identical proteins and their annotated locations for XP_005261194.1

    Conserved Domains (2) summary
    cd00764
    Location:1744
    Eukaryotic_PFK; Phosphofructokinase, a key regulatory enzyme in glycolysis, catalyzes the phosphorylation of fructose-6-phosphate to fructose-1,6-biphosphate. The members belong to a subfamily of the PFKA family (cd00363) and include eukaryotic ATP-dependent ...
    TIGR02478
    Location:1726
    6PF1K_euk; 6-phosphofructokinase, eukaryotic type
  9. XM_011529603.2XP_011527905.1  ATP-dependent 6-phosphofructokinase, liver type isoform X6

    Conserved Domains (1) summary
    cl00204
    Location:3551
    PFK; Phosphofructokinase, a key regulatory enzyme in glycolysis, catalyzes the phosphorylation of fructose-6-phosphate to fructose-1,6-biphosphate. The members belong to PFK family that includes ATP- and pyrophosphate (PPi)- dependent phosphofructokinases. ...
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