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    PFKP phosphofructokinase, platelet [ Homo sapiens (human) ]

    Gene ID: 5214, updated on 12-Mar-2017
    Official Symbol
    PFKPprovided by HGNC
    Official Full Name
    phosphofructokinase, plateletprovided by HGNC
    Primary source
    HGNC:HGNC:8878
    See related
    Ensembl:ENSG00000067057 MIM:171840; Vega:OTTHUMG00000017556
    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]
    Orthologs
    Location:
    10p15.2
    Exon count:
    28
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 10 NC_000010.11 (3067475..3136805)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (3109667..3178997)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107983989 Neighboring gene uncharacterized LOC105376350 Neighboring gene uncharacterized LOC105376352 Neighboring gene translation initiation factor IF-2-like Neighboring gene PITRM1 antisense RNA 1 Neighboring gene small nucleolar RNA, C/D box 142 Neighboring gene pitrilysin metallopeptidase 1 Neighboring gene uncharacterized LOC105376354 Neighboring gene mucin-5AC-like

    • 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 Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    NHGRI GWAS Catalog

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

    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

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    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • FLJ40226, FLJ44165

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    6-phosphofructokinase activity EXP
    Inferred from Experiment
    more info
    PubMed 
    6-phosphofructokinase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    6-phosphofructokinase activity TAS
    Traceable Author Statement
    more info
    PubMed 
    ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    cadherin binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    protein complex binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    canonical glycolysis TAS
    Traceable Author Statement
    more info
     
    fructose 6-phosphate metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytosol TAS
    Traceable Author Statement
    more info
     
    extracellular exosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    extracellular matrix IDA
    Inferred from Direct Assay
    more info
    PubMed 
    membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    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_002618.1

    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
      5047..74332
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001242339.1NP_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
      Consensus CDS
      CCDS55698.1
      UniProtKB/Swiss-Prot
      Q01813
      Related
      ENSP00000370465, OTTHUMP00000018967, ENST00000381075, OTTHUMT00000046455
      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_001323067.1NP_001309996.1  ATP-dependent 6-phosphofructokinase, platelet type isoform 3

      Status: REVIEWED

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

      Status: REVIEWED

      Source sequence(s)
      AL451164, AL731533, KF455188
    4. NM_001323069.1NP_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_001323071.1NP_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
      Conserved Domains (2) 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 ...
      TIGR02478
      Location:1728
      6PF1K_euk; 6-phosphofructokinase, eukaryotic type
    7. NM_001323072.1NP_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
      Conserved Domains (2) 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 ...
      TIGR02478
      Location:1728
      6PF1K_euk; 6-phosphofructokinase, eukaryotic type
    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
    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
    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
    11. NM_002627.4NP_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
      Q01813
      Related
      ENSP00000370517, OTTHUMP00000018966, ENST00000381125, OTTHUMT00000046454
      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

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000010.11 Reference GRCh38.p7 Primary Assembly

      Range
      3067475..3136805
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005252465.4XP_005252522.1  ATP-dependent 6-phosphofructokinase, platelet type isoform X1

      Conserved Domains (2) summary
      cd00764
      Location:22834
      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:25817
      6PF1K_euk; 6-phosphofructokinase, eukaryotic type
    2. XM_005252466.4XP_005252523.1  ATP-dependent 6-phosphofructokinase, platelet type isoform X3

      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
    3. XM_006717449.1XP_006717512.1  ATP-dependent 6-phosphofructokinase, platelet type isoform X2

      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
    4. XM_005252467.2XP_005252524.1  ATP-dependent 6-phosphofructokinase, platelet type isoform X4

      Conserved Domains (2) 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 ...
      TIGR02478
      Location:1728
      6PF1K_euk; 6-phosphofructokinase, eukaryotic type

    Alternate CHM1_1.1

    Genomic

    1. NC_018921.2 Alternate CHM1_1.1

      Range
      3109390..3178958
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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