Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	5211
Gene name	Phosphofructokinase, liver type
Gene symbol	PFKL
Synonyms (NCBI Gene)	ATP-PFKPFK-BPFK-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

109

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

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

MIM	HGNC	e!Ensembl
171860	8876	ENSG00000141959

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

Interactions

View interactions

	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		Neutrophil degranulation Glycolysis

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)

Show/Hide Unknown Diseases (5)

Phenotype Name	Clinical Significance	Source	Evidence Score
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.
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	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (29)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
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	BEFREE	8723052		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mood Disorders	Mood Disorder	PSYGENET_DG	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	BEFREE	11280955		★★★★★ ★☆☆☆☆ Found in Text Mining only
Tetralogy of Fallot	Tetralogy of fallot	Pubtator	11280955	Associate	★★★★★ ★☆☆☆☆ 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

PFKL (phosphofructokinase, liver type)