U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Links from Protein

    • Showing Current items.

    PFKP phosphofructokinase, platelet [ Homo sapiens (human) ]

    Gene ID: 5214, updated on 10-Dec-2024

    Summary

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See PFKP in Genome Data Viewer
    Location:
    10p15.2
    Exon count:
    28
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (3067548..3136805)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (3068649..3138082)
    RS_2024_09 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

    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

    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

    HIV-1 interactions

    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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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 ATP binding IEA
    Inferred from Electronic Annotation
    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 IEA
    Inferred from Electronic Annotation
    more info
     
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    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
     
    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

    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)

    NEW Try the new Transcript table

    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_001242339.2NP_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:80775
      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:80758
      6PF1K_euk; 6-phosphofructokinase, eukaryotic type
    2. NM_001323067.2NP_001309996.1  ATP-dependent 6-phosphofructokinase, platelet type isoform 3

      Status: REVIEWED

      Source sequence(s)
      AL451164, AL731533, KF455188
    3. NM_001323068.2NP_001309997.1  ATP-dependent 6-phosphofructokinase, platelet type isoform 4

      Status: REVIEWED

      Source sequence(s)
      AL451164, AL731533, KF455188
    4. NM_001323069.2NP_001309998.1  ATP-dependent 6-phosphofructokinase, platelet type isoform 5

      Status: REVIEWED

      Source sequence(s)
      AL451164, AL731533, KF455188
    5. NM_001323070.1NP_001309999.1  ATP-dependent 6-phosphofructokinase, platelet type isoform 6 precursor

      Status: REVIEWED

      Source sequence(s)
      AL451164
    6. NM_001323071.2NP_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:1745
      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_001323072.2NP_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:1745
      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_001323073.1NP_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_001323074.1NP_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_001345944.1NP_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:1745
      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_001410880.1NP_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_002627.5NP_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:22783
      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_2024_08

    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_005252466.5XP_005252523.1  ATP-dependent 6-phosphofructokinase, platelet type isoform X2

      Conserved Domains (2) summary
      cd00764
      Location:22783
      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:25766
      6PF1K_euk; 6-phosphofructokinase, eukaryotic type
    2. XM_047425350.1XP_047281306.1  ATP-dependent 6-phosphofructokinase, platelet type isoform X1

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

      Conserved Domains (2) summary
      cd00764
      Location:1796
      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:1779
      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_054366086.1XP_054222061.1  ATP-dependent 6-phosphofructokinase, platelet type isoform X2

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

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

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