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PFKP phosphofructokinase, platelet [ Homo sapiens (human) ]

Gene ID: 5214, updated on 21-Dec-2019

Summary

Official Symbol
PFKPprovided by HGNC
Official Full Name
phosphofructokinase, plateletprovided by HGNC
Primary source
HGNC:HGNC:8878
See related
Ensembl:ENSG00000067057 MIM:171840
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

Genomic context

See PFKP in Genome Data Viewer
Location:
10p15.2
Exon count:
28
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 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 VISTA enhancer hs1958 Neighboring gene uncharacterized LOC101927824 Neighboring gene small nucleolar RNA, C/D box 142 Neighboring gene PITRM1 antisense RNA 1 Neighboring gene pitrilysin metallopeptidase 1 Neighboring gene long intergenic non-protein coding RNA 2668 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

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

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

Homology

Clone Names

  • FLJ40226, FLJ44165

Gene Ontology Provided by GOA

Function Evidence Code Pubs
6-phosphofructokinase activity IBA
Inferred from Biological aspect of Ancestor
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 
AMP binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
ATP binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cadherin binding HDA PubMed 
fructose-6-phosphate binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
identical protein binding IBA
Inferred from Biological aspect of Ancestor
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-containing complex binding IDA
Inferred from Direct Assay
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
 
cellular response to leukemia inhibitory factor IEA
Inferred from Electronic Annotation
more info
 
fructose 1,6-bisphosphate metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
fructose 6-phosphate metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
glucose catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein homotetramerization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
6-phosphofructokinase complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
extracellular exosome HDA PubMed 
membrane HDA PubMed 
membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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_002618.1
XP_005252522.1
XP_005252523.1
XP_006717512.1
XP_024303806.1

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_051598.1 RefSeqGene

    Range
    5075..74329
    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
    ENSP00000370465.2, ENST00000381075.6
    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_001323068.2NP_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
    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_001323072.1NP_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 (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
  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
    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
    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_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
    Q01813
    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: Homo sapiens Updated Annotation Release 109.20191205

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p13 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_024448038.1XP_024303806.1  ATP-dependent 6-phosphofructokinase, platelet type isoform X4

    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 ...
  4. 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
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