Gene Gene information from NCBI Gene database.
Entrez ID 5214
Gene name Phosphofructokinase, platelet
Gene symbol PFKP
Synonyms (NCBI Gene)
ATP-PFKPFK-CPFK-PPFKF
Chromosome 10
Chromosome location 10p15.2
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
miRNA miRNA information provided by mirtarbase database.
504
miRTarBase ID miRNA Experiments Reference
MIRT007336 hsa-miR-520a-3p Luciferase reporter assay 23389994
MIRT007337 hsa-miR-520b Luciferase reporter assay 23389994
MIRT007338 hsa-miR-520e Luciferase reporter assay 23389994
MIRT007336 hsa-miR-520a-3p qRT-PCRWestern blot 23389994
MIRT007337 hsa-miR-520b qRT-PCRWestern blot 23389994
Transcription factors Transcription factors information provided by TRRUST V2 database.
2
Transcription factor Regulation Reference
KLF4 Activation 21586797
ZBTB7A Repression 25184678
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
30
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0003824 Function Catalytic activity IEA
GO:0003872 Function 6-phosphofructokinase activity IBA
GO:0003872 Function 6-phosphofructokinase activity IEA
GO:0003872 Function 6-phosphofructokinase activity ISS
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
171840 8878 ENSG00000067057
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q01813
Protein 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)
Protein function Catalyzes the phosphorylation of D-fructose 6-phosphate to fructose 1,6-bisphosphate by ATP, the first committing step of glycolysis.
PDB 4RH3 , 4U1R , 4WL0 , 4XYJ , 4XYK , 4XZ2 , 7TFF
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00365 PFK 26 333 Phosphofructokinase Domain
PF00365 PFK 412 697 Phosphofructokinase Domain
Sequence
Sequence length 784
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Glycolysis / Gluconeogenesis
Pentose phosphate pathway
Fructose and mannose metabolism
Galactose metabolism
Metabolic pathways
Carbon metabolism
Biosynthesis of amino acids
RNA degradation
HIF-1 signaling pathway
AMPK signaling pathway
Thyroid hormone signaling pathway
Glucagon signaling pathway
Central carbon metabolism in cancer
  Glycolysis
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
6
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Anophthalmia-microphthalmia syndrome Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CONNECTIVE TISSUE DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS, EXPERIMENTAL CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MIXED CONNECTIVE TISSUE DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Adenocarcinoma Associate 27767175
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of Lung Associate 33839701
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Associate 34857756
★☆☆☆☆
Found in Text Mining only
Anophthalmia with pulmonary hypoplasia Associate 32633891
★☆☆☆☆
Found in Text Mining only
Arthritis Rheumatoid Associate 37845777
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Associate 21586797, 32927665, 37833332
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Associate 30168613, 36362375, 36753968
★☆☆☆☆
Found in Text Mining only
Carcinoma Non Small Cell Lung Stimulate 33236133
★☆☆☆☆
Found in Text Mining only
Carcinoma Renal Cell Associate 34596153, 36901940
★☆☆☆☆
Found in Text Mining only
Cognition Disorders Associate 34857756
★☆☆☆☆
Found in Text Mining only