• Gene id: 5214

Gene Summary

• Gene Symbol: PFKP   Gene   UCSC   Ensembl
• Aliases: ATP-PFK, PFK-C, PFK-P, PFKF
• Gene name: phosphofructokinase, platelet
• Alternate names: ATP-dependent 6-phosphofructokinase, platelet type, 6-phosphofructokinase type C, 6-phosphofructokinase, platelet type, phosphofructo-1-kinase isozyme C, phosphofructokinase 1, phosphohexokinase,
• Gene location: 10p15.2 (3067474: 3136804)     Exons: 28     NC_000010.11
• Gene summary(Entrez): 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
• OMIM: 171840

Protein Summary

• Protein general information: Q01813  
  • Name: ATP dependent 6 phosphofructokinase, platelet type (ATP PFK) (PFK P) (EC 2.7.1.11) (6 phosphofructokinase type C) (Phosphofructo 1 kinase isozyme C) (PFK C) (Phosphohexokinase)
  • Length: 784  
  • Mass: 85596
• Sequence:

  MDADDSRAPKGSLRKFLEHLSGAGKAIGVLTSGGDAQGMNAAVRAVVRMGIYVGAKVYFIYEGYQGMVDGGSNIA
  EADWESVSSILQVGGTIIGSARCQAFRTREGRLKAACNLLQRGITNLCVIGGDGSLTGANLFRKEWSGLLEELAR
  NGQIDKEAVQKYAYLNVVGMVGSIDNDFCGTDMTIGTDSALHRIIEVVDAIMTTAQSHQRTFVLEVMGRHCGYLA
  LVSALACGADWVFLPESPPEEGWEEQMCVKLSENRARKKRLNIIIVAEGAIDTQNKPITSEKIKELVVTQLGYDT
  RVTILGHVQRGGTPSAFDRILASRMGVEAVIALLEATPDTPACVVSLNGNHAVRLPLMECVQMTQDVQKAMDERR
  FQDAVRLRGRSFAGNLNTYKRLAIKLPDDQIPKTNCNVAVINVGAPAAGMNAAVRSAVRVGIADGHRMLAIYDGF
  DGFAKGQIKEIGWTDVGGWTGQGGSILGTKRVLPGKYLEEIATQMRTHSINALLIIGGFEAYLGLLELSAAREKH
  EEFCVPMVMVPATVSNNVPGSDFSIGADTALNTITDTCDRIKQSASGTKRRVFIIETMGGYCGYLANMGGLAAGA
  DAAYIFEEPFDIRDLQSNVEHLTEKMKTTIQRGLVLRNESCSENYTTDFIYQLYSEEGKGVFDCRKNVLGHMQQG
  GAPSPFDRNFGTKISARAMEWITAKLKEARGRGKKFTTDDSICVLGISKRNVIFQPVAELKKQTDFEHRIPKEQW
  WLKLRPLMKILAKYKASYDVSDSGQLEHVQPWSV

• Structural information:
  • Interpro: IPR009161  IPR022953  IPR041914  IPR015912  IPR000023   IPR035966  
  • Prosite: PS00433
  • CDD: cd00764
  • PDB: 4RH3 4U1R 4WL0 4XYJ 4XYK 4XZ2
  • PDBsum: 4RH3 4U1R 4WL0 4XYJ 4XYK 4XZ2
  • DIP: 45850
  • STRING: ENSP00000370517
• Other Databases: GeneCards:  PFKP  Malacards:  PFKP

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0070095	fructose-6-phosphate binding	IBA	molecular function
GO:0051289	protein homotetramerization	IBA	biological process
GO:0006007	glucose catabolic process	IBA	biological process
GO:0061621	canonical glycolysis	IBA	biological process
GO:0048029	monosaccharide binding	IBA	molecular function
GO:0042802	identical protein binding	IBA	molecular function
GO:0030388	fructose 1,6-bisphosphate metabolic process	IBA	biological process
GO:0016208	AMP binding	IBA	molecular function
GO:0016020	membrane	IBA	cellular component
GO:0006002	fructose 6-phosphate metabolic process	IBA	biological process
GO:0005945	6-phosphofructokinase complex	IBA	cellular component
GO:0005524	ATP binding	IBA	molecular function
GO:0003872	6-phosphofructokinase activity	IBA	molecular function
GO:0003872	6-phosphofructokinase activity	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0006002	fructose 6-phosphate metabolic process	IEA	biological process
GO:0006096	glycolytic process	IEA	biological process
GO:0016740	transferase activity	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0008152	metabolic process	IEA	biological process
GO:0016301	kinase activity	IEA	molecular function
GO:0003824	catalytic activity	IEA	molecular function
GO:0006096	glycolytic process	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005524	ATP binding	IEA	molecular function
GO:0000166	nucleotide binding	IEA	molecular function
GO:0016310	phosphorylation	IEA	biological process
GO:0003872	6-phosphofructokinase activity	IEA	molecular function
GO:0044877	protein-containing complex binding	IDA	molecular function
GO:0061621	canonical glycolysis	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005829	cytosol	IEA	cellular component
GO:1990830	cellular response to leukemia inhibitory factor	IEA	biological process
GO:0045296	cadherin binding	HDA	molecular function
GO:0005737	cytoplasm	IDA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0003872	6-phosphofructokinase activity	IEA	molecular function
GO:0006096	glycolytic process	IEA	biological process
GO:0006096	glycolytic process	IEA	biological process
GO:0070062	extracellular exosome	HDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0003872	6-phosphofructokinase activity	TAS	molecular function
GO:0016020	membrane	HDA	cellular component
GO:0003872	6-phosphofructokinase activity	ISS	molecular function
GO:0005634	nucleus	HDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa01200	Carbon metabolism
hsa04152	AMPK signaling pathway
hsa04919	Thyroid hormone signaling pathway
hsa04922	Glucagon signaling pathway
hsa03018	RNA degradation
hsa04066	HIF-1 signaling pathway
hsa01230	Biosynthesis of amino acids
hsa00010	Glycolysis / Gluconeogenesis
hsa05230	Central carbon metabolism in cancer
hsa00051	Fructose and mannose metabolism
hsa00030	Pentose phosphate pathway
hsa00052	Galactose metabolism

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Hypospermatogenesis	MIK: 28361989
Non obstructive azoospermia	MIK: 24012201
Sertoli cell only syndrome	MIK: 23869807
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
24012201	Non obstructive azoospermia			31 (4 controls, 27 cases)	Male infertility	GSE45885 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
23869807	Non obstructive azoospermia, Sertoli cell only syndrome			20 (4 controls, 16 cases)	Male infertility	GSE45887 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28361989	Hypospermatogenesis			6 (3 controls, 3 Klienfelter syndrome	Male infertility	Microarray
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R