PFKL (phosphofructokinase, liver type)

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Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases Related genes Diseases linked via similar genes

Gene

• Entrez ID: 5211
• Gene name: Phosphofructokinase, liver type
• Gene symbol: PFKL
• Synonyms (NCBI Gene): ATP-PFK, PFK-B, PFK-L
• Chromosome: 21
• Chromosome location: 21q22.3
• Summary: This gene encodes the liver (L) subunit of an enzyme that catalyzes the conversion of D-fructose 6-phosphate to D-fructose 1,6-bisphosphate, which is a key step in glucose metabolism (glycolysis). This enzyme is a tetramer that may be composed of differen

miRNA Show/Hide all (109)

miRTarBase ID	miRNA	Experiments	Reference
MIRT045672	hsa-miR-149-5p	CLASH	23622248
MIRT042578	hsa-miR-423-3p	CLASH	23622248
MIRT042383	hsa-miR-484	CLASH	23622248
MIRT038234	hsa-miR-330-5p	CLASH	23622248
MIRT036473	hsa-miR-1226-3p	CLASH	23622248
MIRT1226400	hsa-miR-1207-5p	CLIP-seq
MIRT1226401	hsa-miR-1225-3p	CLIP-seq
MIRT1226402	hsa-miR-1233	CLIP-seq
MIRT1226403	hsa-miR-128	CLIP-seq
MIRT1226404	hsa-miR-1827	CLIP-seq
MIRT1226405	hsa-miR-27a	CLIP-seq
MIRT1226406	hsa-miR-27b	CLIP-seq
MIRT1226407	hsa-miR-3189-5p	CLIP-seq
MIRT1226408	hsa-miR-3200-5p	CLIP-seq
MIRT1226409	hsa-miR-324-5p	CLIP-seq
MIRT1226410	hsa-miR-3918	CLIP-seq
MIRT1226411	hsa-miR-4303	CLIP-seq
MIRT1226412	hsa-miR-4316	CLIP-seq
MIRT1226413	hsa-miR-4640-5p	CLIP-seq
MIRT1226414	hsa-miR-4688	CLIP-seq
MIRT1226415	hsa-miR-4690-3p	CLIP-seq
MIRT1226416	hsa-miR-4722-5p	CLIP-seq
MIRT1226417	hsa-miR-4726-5p	CLIP-seq
MIRT1226418	hsa-miR-4763-3p	CLIP-seq
MIRT1226419	hsa-miR-4777-5p	CLIP-seq
MIRT1226420	hsa-miR-518d-5p	CLIP-seq
MIRT1226421	hsa-miR-519b-5p	CLIP-seq
MIRT1226422	hsa-miR-519c-5p	CLIP-seq
MIRT1226423	hsa-miR-520c-5p	CLIP-seq
MIRT1226424	hsa-miR-526a	CLIP-seq
MIRT1226425	hsa-miR-542-3p	CLIP-seq
MIRT1226426	hsa-miR-552	CLIP-seq
MIRT1226427	hsa-miR-764	CLIP-seq
MIRT1226428	hsa-miR-940	CLIP-seq
MIRT1226400	hsa-miR-1207-5p	CLIP-seq
MIRT1226404	hsa-miR-1827	CLIP-seq
MIRT1226409	hsa-miR-324-5p	CLIP-seq
MIRT1226410	hsa-miR-3918	CLIP-seq
MIRT1226412	hsa-miR-4316	CLIP-seq
MIRT1226413	hsa-miR-4640-5p	CLIP-seq
MIRT1226414	hsa-miR-4688	CLIP-seq
MIRT1226417	hsa-miR-4726-5p	CLIP-seq
MIRT1226418	hsa-miR-4763-3p	CLIP-seq
MIRT1226428	hsa-miR-940	CLIP-seq
MIRT1226400	hsa-miR-1207-5p	CLIP-seq
MIRT1226403	hsa-miR-128	CLIP-seq
MIRT2066314	hsa-miR-1287	CLIP-seq
MIRT2066315	hsa-miR-1293	CLIP-seq
MIRT2066316	hsa-miR-1915	CLIP-seq
MIRT2066317	hsa-miR-1976	CLIP-seq
MIRT2066318	hsa-miR-2278	CLIP-seq
MIRT1226405	hsa-miR-27a	CLIP-seq
MIRT1226406	hsa-miR-27b	CLIP-seq
MIRT2066319	hsa-miR-2861	CLIP-seq
MIRT2066320	hsa-miR-3135b	CLIP-seq
MIRT1226407	hsa-miR-3189-5p	CLIP-seq
MIRT2066321	hsa-miR-3622b-5p	CLIP-seq
MIRT2066322	hsa-miR-3663-5p	CLIP-seq
MIRT2066323	hsa-miR-3664-5p	CLIP-seq
MIRT2066324	hsa-miR-3691-5p	CLIP-seq
MIRT2066325	hsa-miR-370	CLIP-seq
MIRT2066326	hsa-miR-3909	CLIP-seq
MIRT2066327	hsa-miR-3927	CLIP-seq
MIRT2066328	hsa-miR-4451	CLIP-seq
MIRT2066329	hsa-miR-4483	CLIP-seq
MIRT2066330	hsa-miR-4492	CLIP-seq
MIRT2066331	hsa-miR-4498	CLIP-seq
MIRT2066332	hsa-miR-4512	CLIP-seq
MIRT2066333	hsa-miR-4685-5p	CLIP-seq
MIRT2066334	hsa-miR-4720-5p	CLIP-seq
MIRT1226416	hsa-miR-4722-5p	CLIP-seq
MIRT2066335	hsa-miR-4732-5p	CLIP-seq
MIRT2066336	hsa-miR-4736	CLIP-seq
MIRT2066337	hsa-miR-4758-3p	CLIP-seq
MIRT1226418	hsa-miR-4763-3p	CLIP-seq
MIRT2066338	hsa-miR-4799-3p	CLIP-seq
MIRT2066339	hsa-miR-513c	CLIP-seq
MIRT2066340	hsa-miR-514b-5p	CLIP-seq
MIRT1226425	hsa-miR-542-3p	CLIP-seq
MIRT1226426	hsa-miR-552	CLIP-seq
MIRT2066341	hsa-miR-762	CLIP-seq
MIRT1226427	hsa-miR-764	CLIP-seq
MIRT1226400	hsa-miR-1207-5p	CLIP-seq
MIRT1226403	hsa-miR-128	CLIP-seq
MIRT1226404	hsa-miR-1827	CLIP-seq
MIRT1226405	hsa-miR-27a	CLIP-seq
MIRT1226406	hsa-miR-27b	CLIP-seq
MIRT1226409	hsa-miR-324-5p	CLIP-seq
MIRT2293804	hsa-miR-3665	CLIP-seq
MIRT1226410	hsa-miR-3918	CLIP-seq
MIRT1226412	hsa-miR-4316	CLIP-seq
MIRT2293805	hsa-miR-4435	CLIP-seq
MIRT2293806	hsa-miR-4446-3p	CLIP-seq
MIRT2066330	hsa-miR-4492	CLIP-seq
MIRT2066331	hsa-miR-4498	CLIP-seq
MIRT1226413	hsa-miR-4640-5p	CLIP-seq
MIRT1226414	hsa-miR-4688	CLIP-seq
MIRT2293807	hsa-miR-4714-3p	CLIP-seq
MIRT1226416	hsa-miR-4722-5p	CLIP-seq
MIRT1226417	hsa-miR-4726-5p	CLIP-seq
MIRT2066336	hsa-miR-4736	CLIP-seq
MIRT1226418	hsa-miR-4763-3p	CLIP-seq
MIRT2066341	hsa-miR-762	CLIP-seq
MIRT1226428	hsa-miR-940	CLIP-seq
MIRT2591898	hsa-miR-1285	CLIP-seq
MIRT2591899	hsa-miR-3187-5p	CLIP-seq
MIRT2591900	hsa-miR-4292	CLIP-seq
MIRT2591901	hsa-miR-4476	CLIP-seq
MIRT2591902	hsa-miR-612	CLIP-seq

Gene ontology (GO) Show/Hide all (47)

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	IDA	6444532, 6444721, 8780720, 22923583
GO:0003872	Function	6-phosphofructokinase activity	IEA
GO:0003872	Function	6-phosphofructokinase activity	IMP	6227635
GO:0005515	Function	Protein binding	IPI	6444721, 21988832, 22923583, 25416956
GO:0005524	Function	ATP binding	IDA	8780720
GO:0005524	Function	ATP binding	IEA
GO:0005576	Component	Extracellular region	TAS
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	HDA	16780588
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005945	Component	6-phosphofructokinase complex	IBA
GO:0005945	Component	6-phosphofructokinase complex	IDA	6444532, 6444721
GO:0006002	Process	Fructose 6-phosphate metabolic process	IBA
GO:0006002	Process	Fructose 6-phosphate metabolic process	IDA	6444532, 6444721
GO:0006002	Process	Fructose 6-phosphate metabolic process	IEA
GO:0006002	Process	Fructose 6-phosphate metabolic process	IEA
GO:0006002	Process	Fructose 6-phosphate metabolic process	IMP	6227635
GO:0006096	Process	Glycolytic process	IDA	6227635, 6444532, 22923583
GO:0006096	Process	Glycolytic process	IEA
GO:0009749	Process	Response to glucose	IDA	22923583
GO:0009749	Process	Response to glucose	IEA
GO:0016020	Component	Membrane	HDA	19946888
GO:0016020	Component	Membrane	IBA
GO:0016301	Function	Kinase activity	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0019900	Function	Kinase binding	IPI	6444721
GO:0030388	Process	Fructose 1,6-bisphosphate metabolic process	IBA
GO:0030388	Process	Fructose 1,6-bisphosphate metabolic process	IDA	22923583
GO:0030388	Process	Fructose 1,6-bisphosphate metabolic process	IEA
GO:0034774	Component	Secretory granule lumen	TAS
GO:0042802	Function	Identical protein binding	IEA
GO:0042802	Function	Identical protein binding	IPI	6444721, 25416956
GO:0046676	Process	Negative regulation of insulin secretion	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0048029	Function	Monosaccharide binding	IEA
GO:0061615	Process	Glycolytic process through fructose-6-phosphate	IEA
GO:0061621	Process	Canonical glycolysis	IBA
GO:0070061	Function	Fructose binding	IDA	8780720
GO:0070062	Component	Extracellular exosome	HDA	19056867, 19199708, 20458337
GO:0070095	Function	Fructose-6-phosphate binding	IBA
GO:0070095	Function	Fructose-6-phosphate binding	IDA	6444721
GO:0070095	Function	Fructose-6-phosphate binding	IEA
GO:1904813	Component	Ficolin-1-rich granule lumen	TAS

Other IDs

• MIM: 171860
• HGNC: 8876
• e!Ensembl: ENSG00000141959

Protein

• UniProt ID: P17858
• Protein name: ATP-dependent 6-phosphofructokinase, liver type (ATP-PFK) (PFK-L) (EC 2.7.1.11) (6-phosphofructokinase type B) (Phosphofructo-1-kinase isozyme B) (PFK-B) (Phosphohexokinase)
• Protein function: Catalyzes the phosphorylation of D-fructose 6-phosphate to fructose 1,6-bisphosphate by ATP, the first committing step of glycolysis (PubMed:22923583). Negatively regulates the phagocyte oxidative burst in response to bacterial infection by cont
• PDB: 7LW1 , 8W2G , 8W2H , 8W2I , 8W2J
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00365	PFK	17 → 324	Phosphofructokinase	Domain
  PF00365	PFK	401 → 686	Phosphofructokinase	Domain

• Sequence:

  MAAVDLEKLRASGAGKAIGVLTSGGDAQGMNAAVRAVTRMGIYVGAKVFLIYEGYEGLVE
  GGENIKQANWLSVSNIIQLGGTIIGSARCKAFTTREGRRAAAYNLVQHGITNLCVIGGDG
  SLTGANIFRSEWGSLLEELVAEGKISETTARTYSHLNIAGLVGSIDNDFCGTDMTIGTDS
  ALHRIMEVIDAITTTAQSHQRTFVLEVMGRHCGYLALVSALASGADWLFIPEAPPEDGWE
  NFMCERLGETRSRGSRLNIIIIAEGAIDRNGKPISSSYVKDLVVQRLGFDTRVTVLGHVQ
  RGGTPSAFDRILSSKMGMEAVMALLEATPDTPACVVTLSGNQSVRLPLMECVQMTKEVQK
  AMDDKRFDEATQLRGGSFENNWNIYKLLAHQKPPKEKSNFSLAILNVGAPAAGMNAAVRS
  AVRTGISHGHTVYVVHDGFEGLAKGQVQEVGWHDVAGWLGRGGSMLGTKRTLPKGQLESI
  VENIRIYGIHALLVVGGFEAYEGVLQLVEARGRYEELCIVMCVIPATISNNVPGTDFSLG
  SDTAVNAAMESCDRIKQSASGTKRRVFIVETMGGYCGYLATVTGIAVGADAAYVFEDPFN
  IHDLKVNVEHMTEKMKTDIQRGLVLRNEKCHDYYTTEFLYNLYSSEGKGVFDCRTNVLGH
  LQQGGAPTPFDRNYGTKLGVKAMLWLSEKLREVYRKGRVFANAPDSACVIGLKKKAVAFS
  PVTELKKDTDFEHRMPREQWWLSLRLMLKMLAQYRISMAAYVSGELEHVTRRTLSMDKGF
  

• Sequence length: 780

Pathways

KEGG Pathway	Reactome Pathway
Glycolysis / Gluconeogenesis	Neutrophil degranulation
Pentose phosphate pathway	Glycolysis
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

Associated diseases

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
Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
BIPOLAR DISORDER	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MOOD DISORDERS	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PFKL-related disorder	Likely benign; Benign; Conflicting classifications of pathogenicity	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 1 DIABETES MELLITUS	—	GWAS catalog	39749473	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	39749473	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining Show/Hide Text Mining Associations (29)
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Bipolar Disorder	Bipolar Disorder	BEFREE	11304836, 9915960		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar Disorder	PSYGENET_DG	11304836, 7573177, 8988454, 9119364, 9915960		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy Dilated	Dilated cardiomyopathy	Pubtator	37462883	Associate	★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	15063784		★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down Syndrome	BEFREE	11280955, 15063784		★☆☆☆☆ Found in Text Mining only
Fructosuria	Fructosuria	Pubtator	19237742	Associate	★☆☆☆☆ Found in Text Mining only
Glycogen Storage Disease	Glycogen Storage Disease	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Heart Defects Congenital	Congenital heart defect	Pubtator	11280955	Associate	★☆☆☆☆ Found in Text Mining only
Hypotension	Hypotension	Pubtator	9915960	Associate	★☆☆☆☆ Found in Text Mining only
Lafora Disease	Lafora Disease	BEFREE	7485240		★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	26596840	Associate	★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	31514072		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis Biliary	Liver cirrhosis	Pubtator	33371893	Associate	★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 1	Major Affective Disorder	BEFREE	11304836, 9915960		★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 2	Major Affective Disorder	BEFREE	11304836, 7573177, 9915960		★☆☆☆☆ Found in Text Mining only
Major Affective Disorder 2	Major depressive disorder	Pubtator	9915960	Associate	★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 4	Major Affective Disorder	BEFREE	11304836, 9915960		★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 6	Major Affective Disorder	BEFREE	11304836, 9915960		★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 7	Major Affective Disorder	BEFREE	11304836, 9915960		★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 8	Major Affective Disorder	BEFREE	11304836, 9915960		★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 9	Major Affective Disorder	BEFREE	11304836, 9915960		★☆☆☆☆ Found in Text Mining only
Mood Disorders	Mood Disorder	PSYGENET_DG	8723052		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mood Disorders	Mood Disorder	BEFREE	8723052		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	37831605	Associate	★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	37194791	Associate	★☆☆☆☆ Found in Text Mining only
Tetralogy of Fallot	Tetralogy of fallot	Pubtator	11280955	Associate	★☆☆☆☆ Found in Text Mining only
Tetralogy of Fallot	Tetralogy of Fallot	BEFREE	11280955		★☆☆☆☆ Found in Text Mining only
Unverricht-Lundborg Syndrome	Myoclonic Epilepsy	BEFREE	7485240, 9012407		★☆☆☆☆ Found in Text Mining only
Ventricular Septal Defects	Ventricular septal defect	BEFREE	11280955		★☆☆☆☆ Found in Text Mining only

Related Genes

Sort by: Blended Diseases Pathways Evidence source

PFKM 13 shared pathwaysGlycolysis / Gluconeogenesis, Pentose phosphate pathway, Fructose and mannose metabolism, Galactose metabolism, 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 +1 more Related via 13 shared pathways including Glycolysis / Gluconeogenesis, Pentose phosphate pathway. PFKP 13 shared pathwaysGlycolysis / Gluconeogenesis, Pentose phosphate pathway, Fructose and mannose metabolism, Galactose metabolism, 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 +1 more Related via 13 shared pathways including Glycolysis / Gluconeogenesis, Pentose phosphate pathway. ALDOC 7 shared pathwaysGlycolysis / Gluconeogenesis, Pentose phosphate pathway, Fructose and mannose metabolism, Carbon metabolism, Biosynthesis of amino acids, HIF-1 signaling pathway, Glycolysis Related via 7 shared pathways including Glycolysis / Gluconeogenesis, Pentose phosphate pathway. ALDOA 7 shared pathwaysGlycolysis / Gluconeogenesis, Pentose phosphate pathway, Fructose and mannose metabolism, Carbon metabolism, Biosynthesis of amino acids, HIF-1 signaling pathway, Glycolysis Related via 7 shared pathways including Glycolysis / Gluconeogenesis, Pentose phosphate pathway. ALDOB 7 shared pathwaysGlycolysis / Gluconeogenesis, Pentose phosphate pathway, Fructose and mannose metabolism, Carbon metabolism, Biosynthesis of amino acids, HIF-1 signaling pathway, Glycolysis Related via 7 shared pathways including Glycolysis / Gluconeogenesis, Pentose phosphate pathway.

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathways	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
PFKM	0	[]	13	["Glycolysis \/ Gluconeogenesis","Pentose phosphate pathway","Fructose and mannose metabolism","Galactose metabolism","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"]	0	[]
PFKP	0	[]	13	["Glycolysis \/ Gluconeogenesis","Pentose phosphate pathway","Fructose and mannose metabolism","Galactose metabolism","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"]	0	[]
ALDOC	0	[]	7	["Glycolysis \/ Gluconeogenesis","Pentose phosphate pathway","Fructose and mannose metabolism","Carbon metabolism","Biosynthesis of amino acids","HIF-1 signaling pathway","Glycolysis"]	0	[]
ALDOA	0	[]	7	["Glycolysis \/ Gluconeogenesis","Pentose phosphate pathway","Fructose and mannose metabolism","Carbon metabolism","Biosynthesis of amino acids","HIF-1 signaling pathway","Glycolysis"]	0	[]
ALDOB	0	[]	7	["Glycolysis \/ Gluconeogenesis","Pentose phosphate pathway","Fructose and mannose metabolism","Carbon metabolism","Biosynthesis of amino acids","HIF-1 signaling pathway","Glycolysis"]	0	[]

Diseases Linked via Similar Genes

Glycogen storage disease Linked via 2 of 5 related genesPFKM, ALDOA Myocardial ischemia Linked via 2 of 5 related genesPFKM, ALDOA Connective tissue disease Linked via 1 of 5 related genesPFKP Mixed connective tissue disease Linked via 1 of 5 related genesPFKP Autoimmune nervous system disorder Linked via 1 of 5 related genesALDOC

Disease	Linked Via (Gene Count)	Linked Via (Gene Names)
Glycogen storage disease	2	["PFKM","ALDOA"]
Myocardial ischemia	2	["PFKM","ALDOA"]
Connective tissue disease	1	["PFKP"]
Mixed connective tissue disease	1	["PFKP"]
Autoimmune nervous system disorder	1	["ALDOC"]