• Gene id: 5211

Gene Summary

• Gene Symbol: PFKL   Gene   UCSC   Ensembl
• Aliases: ATP-PFK, PFK-B, PFK-L
• Gene name: phosphofructokinase, liver type
• Alternate names: ATP-dependent 6-phosphofructokinase, liver type, 6-phosphofructokinase type B, 6-phosphofructokinase, liver type, liver-type 1-phosphofructokinase, phosphofructo-1-kinase isozyme B, phosphohexokinase,
• Gene location: 21q22.3 (44300039: 44327372)     Exons: 27     NC_000021.9
• Gene summary(Entrez): 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

Protein Summary

• Protein general information: P17858  
  • 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)
  • Length: 780  
  • Mass: 85018
• Sequence:

  MAAVDLEKLRASGAGKAIGVLTSGGDAQGMNAAVRAVTRMGIYVGAKVFLIYEGYEGLVEGGENIKQANWLSVSN
  IIQLGGTIIGSARCKAFTTREGRRAAAYNLVQHGITNLCVIGGDGSLTGANIFRSEWGSLLEELVAEGKISETTA
  RTYSHLNIAGLVGSIDNDFCGTDMTIGTDSALHRIMEVIDAITTTAQSHQRTFVLEVMGRHCGYLALVSALASGA
  DWLFIPEAPPEDGWENFMCERLGETRSRGSRLNIIIIAEGAIDRNGKPISSSYVKDLVVQRLGFDTRVTVLGHVQ
  RGGTPSAFDRILSSKMGMEAVMALLEATPDTPACVVTLSGNQSVRLPLMECVQMTKEVQKAMDDKRFDEATQLRG
  GSFENNWNIYKLLAHQKPPKEKSNFSLAILNVGAPAAGMNAAVRSAVRTGISHGHTVYVVHDGFEGLAKGQVQEV
  GWHDVAGWLGRGGSMLGTKRTLPKGQLESIVENIRIYGIHALLVVGGFEAYEGVLQLVEARGRYEELCIVMCVIP
  ATISNNVPGTDFSLGSDTAVNAAMESCDRIKQSASGTKRRVFIVETMGGYCGYLATVTGIAVGADAAYVFEDPFN
  IHDLKVNVEHMTEKMKTDIQRGLVLRNEKCHDYYTTEFLYNLYSSEGKGVFDCRTNVLGHLQQGGAPTPFDRNYG
  TKLGVKAMLWLSEKLREVYRKGRVFANAPDSACVIGLKKKAVAFSPVTELKKDTDFEHRMPREQWWLSLRLMLKM
  LAQYRISMAAYVSGELEHVTRRTLSMDKGF

• Structural information:
  • Interpro: IPR009161  IPR022953  IPR041914  IPR015912  IPR000023   IPR035966  
  • Prosite: PS00433
  • CDD: cd00764
  • STRING: ENSP00000269848
• Other Databases: GeneCards:  PFKL  Malacards:  PFKL

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:0009749	response to glucose	IDA	biological process
GO:0030388	fructose 1,6-bisphosphate metabolic process	IDA	biological process
GO:0006096	glycolytic process	IDA	biological process
GO:0003872	6-phosphofructokinase activity	IDA	molecular function
GO:0005515	protein binding	IPI	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:0016301	kinase activity	IEA	molecular function
GO:0008152	metabolic process	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0016740	transferase activity	IEA	molecular function
GO:0016310	phosphorylation	IEA	biological process
GO:0003824	catalytic activity	IEA	molecular function
GO:0000166	nucleotide binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0006096	glycolytic process	IEA	biological process
GO:0005524	ATP binding	IEA	molecular function
GO:0003872	6-phosphofructokinase activity	IEA	molecular function
GO:0043312	neutrophil degranulation	TAS	biological process
GO:0061621	canonical glycolysis	TAS	biological process
GO:1904813	ficolin-1-rich granule lumen	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0034774	secretory granule lumen	TAS	cellular component
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005829	cytosol	IEA	cellular component
GO:0005975	carbohydrate metabolic process	IEA	biological process
GO:0070095	fructose-6-phosphate binding	IEA	molecular function
GO:0005829	cytosol	IEA	cellular component
GO:0009749	response to glucose	IEA	biological process
GO:0046676	negative regulation of insulin secretion	IEA	biological process
GO:0003872	6-phosphofructokinase activity	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0006002	fructose 6-phosphate metabolic process	IEA	biological process
GO:0006096	glycolytic process	IEA	biological process
GO:0030388	fructose 1,6-bisphosphate metabolic process	IEA	biological process
GO:0042802	identical protein binding	IEA	molecular function
GO:0048029	monosaccharide binding	IEA	molecular function
GO:0003872	6-phosphofructokinase activity	IEA	molecular function
GO:0006002	fructose 6-phosphate metabolic process	IEA	biological process
GO:0061615	glycolytic process through fructose-6-phosphate	IEA	biological process
GO:0070095	fructose-6-phosphate binding	IDA	molecular function
GO:0070061	fructose binding	IDA	molecular function
GO:0019900	kinase binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0006096	glycolytic process	IEA	biological process
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	IDA	biological process
GO:0006096	glycolytic process	IDA	biological process
GO:0006002	fructose 6-phosphate metabolic process	IDA	biological process
GO:0006002	fructose 6-phosphate metabolic process	IDA	biological process
GO:0005945	6-phosphofructokinase complex	IDA	cellular component
GO:0005524	ATP binding	IDA	molecular function
GO:0003872	6-phosphofructokinase activity	IDA	molecular function
GO:0003872	6-phosphofructokinase activity	IDA	molecular function
GO:0005945	6-phosphofructokinase complex	IDA	cellular component
GO:0003872	6-phosphofructokinase activity	IDA	molecular function
GO:0070062	extracellular exosome	HDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0016020	membrane	HDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0003872	6-phosphofructokinase activity	IMP	contributes to
GO:0005829	cytosol	HDA	cellular component
GO:0006002	fructose 6-phosphate metabolic process	IMP	biological process

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
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray