PFKL - phosphofructokinase, liver type Gene

Also Known as PFK-B; PFK-L; ATP-PFK

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 5211

About PFKL

Cytogenetic location: 21q22.3 Genomic coordinates (GRCh38): 21:44,300,053-44,327,373 (from NCBI)

This gene has 12 transcripts (splice variants), 211 orthologues and 2 paralogues. Ubiquitous expression in kidney (RPKM 49.4), duodenum (RPKM 37.4) and 25 other tissues.

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 different subunits encoded by distinct genes in different tissues. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014]

PFKL Products (2)

mRNA	Protein	Name
NM_001002021.3	NP_001002021.2	ATP-dependent 6-phosphofructokinase, liver type isoform a
NM_002626.6	NP_002617.3	ATP-dependent 6-phosphofructokinase, liver type isoform b

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables 6-phosphofructokinase activity	IDA IDA: Inferred from direct assay	6444532	GOA
contributes to 6-phosphofructokinase activity	IMP IMP: Inferred from mutant phenotype	6227635	GOA
enables ATP binding	IDA IDA: Inferred from direct assay	8780720	GOA
enables fructose binding	IDA IDA: Inferred from direct assay	8780720	GOA
enables fructose-6-phosphate binding	IDA IDA: Inferred from direct assay	6444721	GOA
enables identical protein binding	IPI IPI: Inferred from physical interaction	6444721	GOA
enables kinase binding	IPI IPI: Inferred from physical interaction	6444721	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	6444721	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in fructose 1,6-bisphosphate metabolic process	IDA IDA: Inferred from direct assay	22923583	GOA
involved in fructose 6-phosphate metabolic process	IDA IDA: Inferred from direct assay	6444532	GOA
involved in fructose 6-phosphate metabolic process	IMP IMP: Inferred from mutant phenotype	6227635	GOA
involved in glycolytic process	IDA IDA: Inferred from direct assay	6227635	GOA
involved in response to glucose	IDA IDA: Inferred from direct assay	22923583	GOA

Cellular Component GO Annotation	Evidence	References	Source
part of 6-phosphofructokinase complex	IDA IDA: Inferred from direct assay	6444532	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

PFKL Protein Structure

PFK

0
200
400
600
780 a.a.

Protein Preferred Names	Protein Names
ATP-dependent 6-phosphofructokinase, liver type	6-phosphofructokinase type B

PFKL Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	PFKL	P17858	KRTAP10-7	Homo sapiens	P60409	Y2H Prey Pooling	25416956
Intra	PFKL	P17858	KRTAP10-7	Homo sapiens	P60409	Y2H Array	25416956
Intra	PFKL	P17858	KRTAP5-9	Homo sapiens	P26371	Y2H Prey Pooling	25416956
Intra	PFKL	P17858	KRTAP5-9	Homo sapiens	P26371	Validated Y2H	25416956
Intra	PFKL	P17858	PFKL	Homo sapiens	P17858	Affinity Chrom	6444721
Intra	PFKL	P17858	PFKM	Homo sapiens	P08237	Affinity Chrom	6444721
Intra	PFKL	P17858	PFKL	Homo sapiens	P17858	Y2H Array	25416956
Intra	PFKL	P17858	GTPBP3	Homo sapiens	Q969Y2	Validated Y2H	25416956

Cross: Cross-species interaction Intra: Intraspecies interaction

PFKL Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P81852	PFKL Antibody (YA1597)	WB, ICC/IF	Mouse, Rat
HY-P81852A	PFKL Antibody (YA1597)(PBS only)	WB, ICC/IF	Mouse, Rat

Related Diseases

Diseases	Alias
Glycogen Storage Disease Vii	Glycogen Storage Disease Type Vii Muscle Phosphofructokinase Deficiency Tarui Disease GSD7 Pfkm Deficiency Gsd Vii Glycogen Storage Disease, Type Vii Glycogen Storage Disease Type 7 Phosphofructokinase Deficiency Glycogenosis Type Vii Phosphofructokinase Myopathy Glycogenosis 7 Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency Gsd Due To Muscle Phosphofructokinase Deficiency Gsd Type 7 Gsd Type Vii Glycogenosis Due To Muscle Phosphofructokinase Deficiency Glycogenosis Type 7 Glycogen Storage Disease 7 Gsd-Vii Storage Disease, Glycogen, Type Vii
Glycogen Storage Disease	Glycogenosis Glycogenoses Gsd Storage Disease, Glycogen Gsd - [Glycogen Storage Disease] Glycogen Thesaurismosis Diffuse Glycogenosis Generalised Glycogen Storage Disease Generalised Glycogenosis Generalised Glycogen Storage Disease Of Infants Glycogen Synthase Deficiency
Unverricht-Lundborg Syndrome	Unverricht-Lundborg Disease Epm1 Myoclonic Epilepsy Of Unverricht And Lundborg Myoclonus Progressive Epilepsy Of Unverricht And Lundborg Unverricht - Lundborg Disease Unverricht'S Disease Epilepsy, Progressive Myoclonic Type 1 Epilepsy, Progressive Myoclonus 1 Progressive Myoclonus Epilepsy Baltic Myoclonic Epilepsy Baltic Myoclonic Epilepsy Baltic Myoclonus Baltic Myoclonus Epilepsy Lundborg-Unverricht Syndrome Mediterranean Myoclonic Epilepsy Pme Progressive Myoclonic Epilepsy Progressive Myoclonus Epilepsy 1 Uld Myoclonic Epilepsies, Progressive
Fructosuria, Essential	Essential Fructosuria Ketohexokinase Deficiency Fructosuria Hepatic Fructokinase Deficiency Fructokinase Deficiency FRUCT Deficiency Of Fructokinase
Hemolytic Anemia	Anemia, Hemolytic Anemia Hemolytic Anaemia Due To Other Disorders Of Glutathione Metabolism Chronic Non Spherocytic Anaemia G6pd - [Glucose-6-Phosphate Dehydrogenase Deficiency] Anaemia Anaemia Due To Glucose-6-Phosphate Dehydrogenase Deficiency Glucose-6-Phosphate Dehydrogenase Deficiency With Anaemia Glucose-6-Phosphate Dehydrogenase Deficiency Anaemia Favism Anaemia Haemolytic Anaemia Due Tog6pd Deficiency Favism Pentose Phosphate Pathway Disorder Anaemia Anaemia Due To Pentose Phosphate Pathway Defect
Robinow Syndrome, Autosomal Recessive 1	Robinow Syndrome, Autosomal Recessive Autosomal Recessive Robinow Syndrome Covesdem Syndrome RRS1 Costovertebral Segmentation Defect-Mesomelia Syndrome Rrs Costovertebral Segmentation Defect With Mesomelia, Formerly Covesdem Syndrome, Formerly Costovertebral Segmentation Defect With Mesomelia Robinow Syndrome Autosomal Recessive With Aplasia/Hypoplasia Of Phalanges And Metacarpals/Metatarsals Robinow Syndrome Autosomal Recessive With Brachy-Syn-Polydactyly Robinow Syndrome, Autosomal Recessive, With Aplasia/Hypoplasia Of Phalanges And Metacarpals/Metatarsals Robinow Syndrome, Autosomal Recessive, With Brachy-Syn-Polydactyly Robinow, Autosomal Recessive Syndrome, Type 1
Progressive Myoclonus Epilepsy	Pme Progressive Myoclonic Epilepsy Myoclonic Epilepsies, Progressive Unverricht-Lundborg Syndrome
Myopathy	Muscular Diseases Myopathies

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (4)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-182002	Apoptosis inducer 61		/	Unkown
HY-RS10365	PFKL Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS18781	Pfkl Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS25270	Pfkl Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	PFKL	VGNC	VGNC:81737
Mus musculus	PFKL	MGD	MGI:97547
Bos taurus	PFKL	VGNC	VGNC:32773
Felis catus	PFKL	VGNC	VGNC:68807
Rattus norvegicus	PFKL	RGD	RGD:3311
Canis familiaris	PFKL	VGNC	VGNC:44446
Others	PFKL	NCBI