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PFKP phosphofructokinase, platelet [ Homo sapiens (human) ]

Gene ID: 5214, updated on 5-Mar-2024

Summary

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Official Symbol
PFKPprovided by HGNC
Official Full Name
phosphofructokinase, plateletprovided by HGNC
Primary source
HGNC:HGNC:8878
See related
Ensembl:ENSG00000067057 MIM:171840; AllianceGenome:HGNC:8878
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
PFKF; PFK-C; PFK-P; ATP-PFK
Summary
This gene encodes a member of the phosphofructokinase A protein family. The encoded enzyme is the platelet-specific isoform of phosphofructokinase and plays a key role in glycolysis regulation. This gene may play a role in metabolic reprogramming in some cancers, including clear cell renal cell carcinomas, and cancer of the bladder, breast, and lung. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]
Expression
Broad expression in testis (RPKM 49.8), brain (RPKM 37.5) and 23 other tissues See more
Orthologs
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Genomic context

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Location:
10p15.2
Exon count:
28
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (3067548..3136805)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (3068649..3138082)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (3109740..3178997)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124902532 Neighboring gene VISTA enhancer hs1958 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:3105028-3105978 Neighboring gene wiskott-Aldrich syndrome protein family member 1-like Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2069 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2070 Neighboring gene PFKP divergent transcript Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2071 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2072 Neighboring gene ReSE screen-validated silencer GRCh37_chr10:3110992-3111172 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2905 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:3115641-3116142 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:3118349-3118913 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:3118914-3119477 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr10:3119931-3120866 Neighboring gene ReSE screen-validated silencer GRCh37_chr10:3126799-3126967 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr10:3132863-3134062 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:3134597-3135394 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr10:3137343-3138542 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr10:3146075-3147274 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:3171407-3171920 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:3178175-3178676 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:3178677-3179176 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:3183533-3184034 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:3184035-3184534 Neighboring gene small nucleolar RNA, C/D box 142 Neighboring gene PITRM1 antisense RNA 1 Neighboring gene pitrilysin metallopeptidase 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2908 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2073 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2074 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:3215987-3216524 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:3256260-3256760 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:3256761-3257261 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:3279001-3279500 Neighboring gene long intergenic non-protein coding RNA 2668 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr10:3290932-3292131 Neighboring gene mucin-5AC-like

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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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Related articles in PubMed

  1. Glycolysis regulator PFKP induces human melanoma cell proliferation and tumor growth. Chen C, et al. Clin Transl Oncol, 2023 Jul. PMID 36792847
  2. Phosphofructokinase 1 platelet isoform induces PD-L1 expression to promote glioblastoma immune evasion. Wang S, et al. Genes Genomics, 2022 Dec. PMID 35917090
  3. Platelet isoform of phosphofructokinase accelerates malignant features in breast cancer. Inaishi T, et al. Oncol Rep, 2022 Jan. PMID 34751415
  4. Silencing PFKP restrains the stemness of hepatocellular carcinoma cells. Sha X, et al. Exp Cell Res, 2021 Oct 1. PMID 34418458
  5. Platelet isoform of phosphofructokinase promotes aerobic glycolysis and the progression of non‑small cell lung cancer. Wang F, et al. Mol Med Rep, 2021 Jan. PMID 33236133, Free PMC Article

See all (193) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. PFKP deubiquitination and stabilization by USP5 activate aerobic glycolysis to promote triple-negative breast cancer progression.
    Title: PFKP deubiquitination and stabilization by USP5 activate aerobic glycolysis to promote triple-negative breast cancer progression.
  2. Inhibition of PFKP in renal tubular epithelial cell restrains TGF-beta induced glycolysis and renal fibrosis.
    Title: Inhibition of PFKP in renal tubular epithelial cell restrains TGF-β induced glycolysis and renal fibrosis.
  3. p53-responsive CMBL reprograms glucose metabolism and suppresses cancer development by destabilizing phosphofructokinase PFKP.
    Title: p53-responsive CMBL reprograms glucose metabolism and suppresses cancer development by destabilizing phosphofructokinase PFKP.
  4. Glycolysis regulator PFKP induces human melanoma cell proliferation and tumor growth.
    Title: Glycolysis regulator PFKP induces human melanoma cell proliferation and tumor growth.
  5. Phosphofructokinase 1 Platelet Isoform Enhances VEGF Expression in Part Through HIF-1alpha Up-regulation in Breast Cancer.
    Title: Phosphofructokinase 1 Platelet Isoform Enhances VEGF Expression in Part Through HIF-1α Up-regulation in Breast Cancer.
  6. Mutual regulation between phosphofructokinase 1 platelet isoform and VEGF promotes glioblastoma tumor growth.
    Title: Mutual regulation between phosphofructokinase 1 platelet isoform and VEGF promotes glioblastoma tumor growth.
  7. Phosphofructokinase 1 platelet isoform induces PD-L1 expression to promote glioblastoma immune evasion.
    Title: Phosphofructokinase 1 platelet isoform induces PD-L1 expression to promote glioblastoma immune evasion.
  8. PFKP Activation Ameliorates Foot Process Fusion in Podocytes in Diabetic Kidney Disease.
    Title: PFKP Activation Ameliorates Foot Process Fusion in Podocytes in Diabetic Kidney Disease.
  9. PFKP facilitates ATG4B phosphorylation during amino acid deprivation-induced autophagy.
    Title: PFKP facilitates ATG4B phosphorylation during amino acid deprivation-induced autophagy.
  10. Platelet isoform of phosphofructokinase accelerates malignant features in breast cancer.
    Title: Platelet isoform of phosphofructokinase accelerates malignant features in breast cancer.
Submit: New GeneRIF Correction See all GeneRIFs (36)

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
Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations.
EBI GWAS Catalog
Novel genetic variants associated with lumbar disc degeneration in northern Europeans: a meta-analysis of 4600 subjects.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

HIV-1 interactions

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Protein interactions

Protein Gene Interaction Pubs
Rev rev HIV-1 Rev interacting protein, the platelet isoform of phosphofructokinase (PFKP), is identified by the in-vitro binding experiments involving cytosolic or nuclear extracts from HeLa cells. The interaction of Rev with PFKP is decreased by RRE PubMed
Tat tat Expression of HIV-1 Tat upregulates the abundance of phosphofructokinase (PFKP; platelet) in the nucleoli of Jurkat T-cells PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ40226, FLJ44165

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 ISS
Inferred from Sequence or Structural Similarity
more info
  
enables 6-phosphofructokinase activity TAS
Traceable Author Statement
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 cadherin binding HDA PubMed 
enables fructose-6-phosphate binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables identical protein binding IBA
Inferred from Biological aspect of Ancestor
more info
  
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 
enables protein-containing complex binding IDA
Inferred from Direct Assay
more info
 PubMed 
Process Evidence Code Pubs
involved_in canonical glycolysis IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in cellular response to leukemia inhibitory factor IEA
Inferred from Electronic Annotation
more info
  
involved_in fructose 1,6-bisphosphate metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in fructose 6-phosphate metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in phosphorylation IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
part_of 6-phosphofructokinase complex IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in cytoplasm IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cytosol TAS
Traceable Author Statement
more info
  
located_in extracellular exosome HDA PubMed 
located_in membrane HDA PubMed 
is_active_in membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in nucleus HDA PubMed 

General protein information

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Preferred Names
ATP-dependent 6-phosphofructokinase, platelet type
Names
6-phosphofructokinase type C
6-phosphofructokinase, platelet type
phosphofructo-1-kinase isozyme C
phosphofructokinase 1
phosphohexokinase
NP_001229268.1
NP_001309996.1
NP_001309997.1
NP_001309998.1
NP_001309999.1
NP_001310000.1
NP_001310001.1
NP_001310002.1
NP_001310003.1
NP_001332873.1
NP_001397809.1
NP_002618.1
XP_005252523.1
XP_006717512.1
XP_047281306.1
XP_054222059.1
XP_054222060.1
XP_054222061.1
XP_054222062.1

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

  1. NG_051598.1 RefSeqGene

    Range
    5075..74329
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001242339.2 → NP_001229268.1  ATP-dependent 6-phosphofructokinase, platelet type isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR and has multiple coding region differences, compared to variant 1. These differences causes translation initiation at an alternate AUG and results an isoform (2) that is shorter and has a distinct N-terminus, compared to isoform 1.
    Source sequence(s)
    AK092597, AL451164, AL521453
    UniProtKB/Swiss-Prot
    Q01813
    Conserved Domains (2) summary
    cd00764
    Location:80 → 775
    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:80 → 758
    6PF1K_euk; 6-phosphofructokinase, eukaryotic type

  2. NM_001323067.2 → NP_001309996.1  ATP-dependent 6-phosphofructokinase, platelet type isoform 3

    Status: REVIEWED

    Source sequence(s)
    AL451164, AL731533, KF455188

  3. NM_001323068.2 → NP_001309997.1  ATP-dependent 6-phosphofructokinase, platelet type isoform 4

    Status: REVIEWED

    Source sequence(s)
    AL451164, AL731533, KF455188

  4. NM_001323069.2 → NP_001309998.1  ATP-dependent 6-phosphofructokinase, platelet type isoform 5

    Status: REVIEWED

    Source sequence(s)
    AL451164, AL731533, KF455188

  5. NM_001323070.1 → NP_001309999.1  ATP-dependent 6-phosphofructokinase, platelet type isoform 6 precursor

    Status: REVIEWED

    Source sequence(s)
    AL451164

  6. NM_001323071.2 → NP_001310000.1  ATP-dependent 6-phosphofructokinase, platelet type isoform 7

    Status: REVIEWED

    Description
    Transcript Variant: This variant (7) and variants 8 and 11 all encode isoform 7.
    Source sequence(s)
    AL451164, AL731533, KF455188
    Consensus CDS
    CCDS91203.1
    UniProtKB/TrEMBL
    A0A7I2V3Z0
    Conserved Domains (1) summary
    cd00764
    Location:1 → 745
    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 ...

  7. NM_001323072.2 → NP_001310001.1  ATP-dependent 6-phosphofructokinase, platelet type isoform 7

    Status: REVIEWED

    Description
    Transcript Variant: This variant (8) and variants 7 and 11 all encode isoform 7.
    Source sequence(s)
    AL451164, AL731533, KF455188
    Consensus CDS
    CCDS91203.1
    UniProtKB/TrEMBL
    A0A7I2V3Z0
    Related
    ENSP00000503786.1, ENST00000676796.1
    Conserved Domains (1) summary
    cd00764
    Location:1 → 745
    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 ...

  8. NM_001323073.1 → NP_001310002.1  ATP-dependent 6-phosphofructokinase, platelet type isoform 8 precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (9) and variant 10 both encode isoform 8.
    Source sequence(s)
    AL451164
    Consensus CDS
    CCDS91204.1
    UniProtKB/TrEMBL
    B1APP6

  9. NM_001323074.1 → NP_001310003.1  ATP-dependent 6-phosphofructokinase, platelet type isoform 8 precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (10) and variant 9 both encode isoform 8.
    Source sequence(s)
    AL451164
    Consensus CDS
    CCDS91204.1
    UniProtKB/TrEMBL
    B1APP6
    Related
    ENSP00000408858.2, ENST00000415005.6

  10. NM_001345944.1 → NP_001332873.1  ATP-dependent 6-phosphofructokinase, platelet type isoform 7

    Status: REVIEWED

    Description
    Transcript Variant: This variant (11) and variants 7 and 8 all encode isoform 7.
    Source sequence(s)
    AL451164, AL731533, KF455188
    Consensus CDS
    CCDS91203.1
    UniProtKB/TrEMBL
    A0A7I2V3Z0
    Related
    ENSP00000370465.3, ENST00000381075.7
    Conserved Domains (1) summary
    cd00764
    Location:1 → 745
    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 ...

  11. NM_001410880.1 → NP_001397809.1  ATP-dependent 6-phosphofructokinase, platelet type isoform 9

    Status: REVIEWED

    Source sequence(s)
    AL451164, AL731533, KF455188
    Consensus CDS
    CCDS91202.1
    UniProtKB/TrEMBL
    A0A8V8TMY4
    Related
    ENSP00000514216.1, ENST00000699222.1

  12. NM_002627.5 → NP_002618.1  ATP-dependent 6-phosphofructokinase, platelet type isoform 1

    See identical proteins and their annotated locations for NP_002618.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1).
    Source sequence(s)
    AL451164, BC002536, BC029138
    Consensus CDS
    CCDS7059.1
    UniProtKB/Swiss-Prot
    B3KS15, Q01813, Q5VSR7, Q5VSR8
    Related
    ENSP00000370517.4, ENST00000381125.9
    Conserved Domains (1) summary
    cd00764
    Location:22 → 783
    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

  1. NC_000010.11 Reference GRCh38.p14 Primary Assembly

    Range
    3067548..3136805
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005252466.5 → XP_005252523.1  ATP-dependent 6-phosphofructokinase, platelet type isoform X2

    Conserved Domains (2) summary
    cd00764
    Location:22 → 783
    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:25 → 766
    6PF1K_euk; 6-phosphofructokinase, eukaryotic type

  2. XM_047425350.1 → XP_047281306.1  ATP-dependent 6-phosphofructokinase, platelet type isoform X1

  3. XM_006717449.2 → XP_006717512.1  ATP-dependent 6-phosphofructokinase, platelet type isoform X1

    Conserved Domains (2) summary
    cd00764
    Location:1 → 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:1 → 779
    6PF1K_euk; 6-phosphofructokinase, eukaryotic type

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060934.1 Alternate T2T-CHM13v2.0

    Range
    3068649..3138082
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054366086.1 → XP_054222061.1  ATP-dependent 6-phosphofructokinase, platelet type isoform X2

  2. XM_054366085.1 → XP_054222060.1  ATP-dependent 6-phosphofructokinase, platelet type isoform X1

  3. XM_054366084.1 → XP_054222059.1  ATP-dependent 6-phosphofructokinase, platelet type isoform X1

  4. XM_054366087.1 → XP_054222062.1  ATP-dependent 6-phosphofructokinase, platelet type isoform X3

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q01813.2 GenPept UniProtKB/Swiss-Prot:Q01813

Gene LinkOut

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