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

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; AllianceGenome:HGNC:8876
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: mouse all
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Genomic context

Location:: 21q22.3

Exon count:: 28

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	21	NC_000021.9 (44300053..44327373)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	21	NC_060945.1 (42654110..42681430)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	21	NC_000021.8 (45719936..45747256)

Chromosome 21 - NC_000021.9 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Ubiquitin-specific protease 14 targets PFKL-mediated glycolysis to promote the proliferation and migration of oral squamous cell carcinoma.
Title: Ubiquitin-specific protease 14 targets PFKL-mediated glycolysis to promote the proliferation and migration of oral squamous cell carcinoma.
EGR1 suppresses HCC growth and aerobic glycolysis by transcriptionally downregulating PFKL.
Title: EGR1 suppresses HCC growth and aerobic glycolysis by transcriptionally downregulating PFKL.
miR-21-5p/Tiam1-mediated glycolysis reprogramming drives breast cancer progression via enhancing PFKL stabilization.
Title: miR-21-5p/Tiam1-mediated glycolysis reprogramming drives breast cancer progression via enhancing PFKL stabilization.
Selective activation of PFKL suppresses the phagocytic oxidative burst.
Title: Selective activation of PFKL suppresses the phagocytic oxidative burst.
Relocation of phosphofructokinases within epithelial cells is a novel event preceding breast cancer recurrence that accurately predicts patient outcomes.
Title: Relocation of phosphofructokinases within epithelial cells is a novel event preceding breast cancer recurrence that accurately predicts patient outcomes.
Biochemical and transcript level differences between the three human phosphofructokinases show optimisation of each isoform for specific metabolic niches.
Title: Biochemical and transcript level differences between the three human phosphofructokinases show optimisation of each isoform for specific metabolic niches.
A20 targets PFKL and glycolysis to inhibit the progression of hepatocellular carcinoma.
Title: A20 targets PFKL and glycolysis to inhibit the progression of hepatocellular carcinoma.
(125)I irradiation upregulated the suppression of miR-338 on PFKL to downregulate the Warburg effect.
Title: (125)I suppressed the Warburg effect viaregulating miR-338/PFKL axis in hepatocellular carcinoma.
TAp73 deficiency results in a pronounced reduction in tumorigenic potential, which can be rescued by forced PFKL expression.
Title: TAp73-induced phosphofructokinase-1 transcription promotes the Warburg effect and enhances cell proliferation.
Liver PFK1 isoform assembles into filaments in a tetramer- and substrate-dependent manner,organizing isoform specific glucose metabolism in cells.
Title: The glycolytic enzyme phosphofructokinase-1 assembles into filaments.

Submit: New GeneRIF Correction See all GeneRIFs (13)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

GDB:185161 (e-PCR)
- UniSTS:155417

D8S2279 (e-PCR)
- UniSTS:473907

Pfkl (e-PCR), detects polymorphism
- UniSTS:259128

GDB:179876 (e-PCR)
- UniSTS:58465

D15S1477 (e-PCR)
- UniSTS:474482

G34632 (e-PCR)
- UniSTS:35501

STS-X15573 (e-PCR)
- UniSTS:15321

RH47822 (e-PCR)
- UniSTS:4852

PMC310701P3 (e-PCR)
- UniSTS:272629

Clone Names

FLJ30173, FLJ40909, DKFZp686G1648, DKFZp686L2097

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables 6-phosphofructokinase activity	IBA Inferred from Biological aspect of Ancestor more info
enables 6-phosphofructokinase activity	IDA Inferred from Direct Assay more info	PubMed
contributes_to 6-phosphofructokinase activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables AMP binding	IBA Inferred from Biological aspect of Ancestor more info
enables ATP binding	IBA Inferred from Biological aspect of Ancestor more info
enables ATP binding	IDA Inferred from Direct Assay more info	PubMed
enables fructose binding	IDA Inferred from Direct Assay more info	PubMed
enables fructose-6-phosphate binding	IBA Inferred from Biological aspect of Ancestor more info
enables fructose-6-phosphate binding	IDA Inferred from Direct Assay more info	PubMed
enables identical protein binding	IBA Inferred from Biological aspect of Ancestor more info
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables kinase binding	IPI Inferred from Physical Interaction more info	PubMed
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables monosaccharide binding	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in canonical glycolysis	IBA Inferred from Biological aspect of Ancestor more info
involved_in fructose 1,6-bisphosphate metabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in fructose 1,6-bisphosphate metabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in fructose 6-phosphate metabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in fructose 6-phosphate metabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in fructose 6-phosphate metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in glycolytic process	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of insulin secretion	IEA Inferred from Electronic Annotation more info
involved_in phosphorylation	IEA Inferred from Electronic Annotation more info
involved_in response to glucose	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
part_of 6-phosphofructokinase complex	IBA Inferred from Biological aspect of Ancestor more info
part_of 6-phosphofructokinase complex	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	HDA more info	PubMed
located_in cytosol	TAS Traceable Author Statement more info
located_in extracellular exosome	HDA more info	PubMed
located_in extracellular region	TAS Traceable Author Statement more info
located_in ficolin-1-rich granule lumen	TAS Traceable Author Statement more info
located_in membrane	HDA more info	PubMed
is_active_in membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in secretory granule lumen	TAS Traceable Author Statement more info

General protein information

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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

EC 2.7.1.11

NP_002617.3

EC 2.7.1.11

XP_005261192.1

EC 2.7.1.11

XP_005261194.1

EC 2.7.1.11

XP_006724074.1

EC 2.7.1.11

XP_011527905.1

EC 2.7.1.11

XP_016883858.1

EC 2.7.1.11

XP_024307853.1

EC 2.7.1.11

XP_047296778.1

EC 2.7.1.11

XP_047296779.1

EC 2.7.1.11

XP_047296780.1

EC 2.7.1.11

XP_047296781.1

EC 2.7.1.11

XP_054180520.1

EC 2.7.1.11

XP_054180521.1

EC 2.7.1.11

XP_054180522.1

EC 2.7.1.11

XP_054180523.1

EC 2.7.1.11

XP_054180524.1

EC 2.7.1.11

XP_054180525.1

EC 2.7.1.11

NCBI Reference Sequences (RefSeq)

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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

NG_034033.1 RefSeqGene

Range

5020..32340

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001002021.3 → NP_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:79 → 823

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 ...
NM_002626.6 → NP_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, Q96A64, Q96IH4, Q9BR91

Related

ENSP00000269848.6, ENST00000349048.9

Conserved Domains (1) summary

cd00764
Location:13 → 773

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: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000021.9 Reference GRCh38.p14 Primary Assembly

Range

44300053..44327373

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047440822.1 → XP_047296778.1 ATP-dependent 6-phosphofructokinase, liver type isoform X1
XM_024452085.2 → XP_024307853.1 ATP-dependent 6-phosphofructokinase, liver type isoform X2

Conserved Domains (1) summary

cd00764
Location:79 → 823

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 ...
XM_006724011.2 → XP_006724074.1 ATP-dependent 6-phosphofructokinase, liver type isoform X1

Conserved Domains (1) summary

cd00764
Location:79 → 846

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 ...
XM_047440825.1 → XP_047296781.1 ATP-dependent 6-phosphofructokinase, liver type isoform X4
XM_017028369.2 → XP_016883858.1 ATP-dependent 6-phosphofructokinase, liver type isoform X5

Conserved Domains (1) summary

cd00764
Location:6 → 750

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 ...
XM_005261135.4 → XP_005261192.1 ATP-dependent 6-phosphofructokinase, liver type isoform X3

Conserved Domains (2) summary

cd00764
Location:13 → 796

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:16 → 778

6PF1K_euk; 6-phosphofructokinase, eukaryotic type
XM_047440824.1 → XP_047296780.1 ATP-dependent 6-phosphofructokinase, liver type isoform X2
XM_047440823.1 → XP_047296779.1 ATP-dependent 6-phosphofructokinase, liver type isoform X1
XM_005261137.5 → XP_005261194.1 ATP-dependent 6-phosphofructokinase, liver type isoform X6

See identical proteins and their annotated locations for XP_005261194.1

Conserved Domains (2) summary

cd00764
Location:1 → 744

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:1 → 726

6PF1K_euk; 6-phosphofructokinase, eukaryotic type
XM_011529603.3 → XP_011527905.1 ATP-dependent 6-phosphofructokinase, liver type isoform X7

UniProtKB/TrEMBL

Q7L2M7

Conserved Domains (1) summary

cl00204
Location:3 → 551

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. ...

Alternate T2T-CHM13v2.0

Genomic

NC_060945.1 Alternate T2T-CHM13v2.0

Range

42654110..42681430

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054324545.1 → XP_054180520.1 ATP-dependent 6-phosphofructokinase, liver type isoform X1
XM_054324547.1 → XP_054180522.1 ATP-dependent 6-phosphofructokinase, liver type isoform X3
XM_054324546.1 → XP_054180521.1 ATP-dependent 6-phosphofructokinase, liver type isoform X2
XM_054324548.1 → XP_054180523.1 ATP-dependent 6-phosphofructokinase, liver type isoform X5
XM_054324549.1 → XP_054180524.1 ATP-dependent 6-phosphofructokinase, liver type isoform X6
XM_054324550.1 → XP_054180525.1 ATP-dependent 6-phosphofructokinase, liver type isoform X7