PFKP phosphofructokinase, platelet [Homo sapiens (human)] - Gene

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: mouse all
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Genomic context

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_000010.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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?

A positive feedback loop between PFKP and c-Myc drives head and neck squamous cell carcinoma progression.
Title: A positive feedback loop between PFKP and c-Myc drives head and neck squamous cell carcinoma progression.
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.
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.
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.
Glycolysis regulator PFKP induces human melanoma cell proliferation and tumor growth.
Title: Glycolysis regulator PFKP induces human melanoma cell proliferation and tumor growth.
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.
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.
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.
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.
PFKP facilitates ATG4B phosphorylation during amino acid deprivation-induced autophagy.
Title: PFKP facilitates ATG4B phosphorylation during amino acid deprivation-induced autophagy.

Submit: New GeneRIF Correction See all GeneRIFs (37)

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 EBI GWAS CatalogPubMed
Novel genetic variants associated with lumbar disc degeneration in northern Europeans: a meta-analysis of 4600 subjects. 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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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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

PMC343947P1 (e-PCR)
- UniSTS:273199

G62086 (e-PCR)
- UniSTS:139092

GDB:193844 (e-PCR)
- UniSTS:155760

PMC164283P1 (e-PCR)
- UniSTS:271481

RH15729 (e-PCR)
- UniSTS:37765

SHGC-146866 (e-PCR)
- UniSTS:172701

D1S3693 (e-PCR)
- UniSTS:474271

RH103121 (e-PCR)
- UniSTS:97455

D10S1218 (e-PCR), detects polymorphism
- UniSTS:58584

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 more info	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 more info	PubMed
located_in membrane	HDA more info	PubMed
is_active_in membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	HDA more info	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

EC 2.7.1.11

NP_001309996.1

EC 2.7.1.11

NP_001309997.1

EC 2.7.1.11

NP_001309998.1

EC 2.7.1.11

NP_001309999.1

EC 2.7.1.11

NP_001310000.1

EC 2.7.1.11

NP_001310001.1

EC 2.7.1.11

NP_001310002.1

EC 2.7.1.11

NP_001310003.1

EC 2.7.1.11

NP_001332873.1

EC 2.7.1.11

NP_001397809.1

EC 2.7.1.11

NP_002618.1

EC 2.7.1.11

XP_005252523.1

EC 2.7.1.11

XP_006717512.1

EC 2.7.1.11

XP_047281306.1

EC 2.7.1.11

XP_054222059.1

EC 2.7.1.11

XP_054222060.1

EC 2.7.1.11

XP_054222061.1

EC 2.7.1.11

XP_054222062.1

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_051598.1 RefSeqGene

Range

5075..74329

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

Status: REVIEWED

Source sequence(s)

AL451164, AL731533, KF455188
NM_001323068.2 → NP_001309997.1 ATP-dependent 6-phosphofructokinase, platelet type isoform 4

Status: REVIEWED

Source sequence(s)

AL451164, AL731533, KF455188
NM_001323069.2 → NP_001309998.1 ATP-dependent 6-phosphofructokinase, platelet type isoform 5

Status: REVIEWED

Source sequence(s)

AL451164, AL731533, KF455188
NM_001323070.1 → NP_001309999.1 ATP-dependent 6-phosphofructokinase, platelet type isoform 6 precursor

Status: REVIEWED

Source sequence(s)

AL451164
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 ...
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 ...
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
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
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 ...
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
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_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000010.11 Reference GRCh38.p14 Primary Assembly

Range

3067548..3136805

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

NC_060934.1 Alternate T2T-CHM13v2.0

Range

3068649..3138082

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054366086.1 → XP_054222061.1 ATP-dependent 6-phosphofructokinase, platelet type isoform X2
XM_054366085.1 → XP_054222060.1 ATP-dependent 6-phosphofructokinase, platelet type isoform X1
XM_054366084.1 → XP_054222059.1 ATP-dependent 6-phosphofructokinase, platelet type isoform X1
XM_054366087.1 → XP_054222062.1 ATP-dependent 6-phosphofructokinase, platelet type isoform X3