PFKL - phosphofructokinase, liver type Gene

Homo sapiens

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

Gene ID: 5211 | Gene type: protein coding

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	Reference	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	Reference	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	Reference	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 Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
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

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS10365	PFKL Human Pre-designed siRNA Set A	Pre-designed Sets	/	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

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