PFKM - phosphofructokinase, muscle Gene

Also Known as GSD7; PFK1; PFKA; PFKX; PFK-1; PFK-A; ATP-PFK; PPP1R122

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 5213

About PFKM

Cytogenetic location: 12q13.11 Genomic coordinates (GRCh38): 12:48,105,353-48,146,404 (from NCBI)

This gene has 32 transcripts (splice variants), 282 orthologues, 2 paralogues and is associated with 2 phenotypes. Broad expression in heart (RPKM 77.2), brain (RPKM 32.0) and 21 other tissues.

Summary

Three phosphofructokinase isozymes exist in humans: muscle, liver and platelet. These isozymes function as subunits of the mammalian tetramer phosphofructokinase, which catalyzes the phosphorylation of fructose-6-phosphate to fructose-1,6-bisphosphate. Tetramer composition varies depending on tissue type. This gene encodes the muscle-type isozyme. Mutations in this gene have been associated with glycogen storage disease type VII, also known as Tarui disease. Alternatively spliced transcript variants have been described.[provided by RefSeq, Nov 2009]

PFKM Products (19)

mRNA Protein Name
NM_000289.6 NP_000280.1 ATP-dependent 6-phosphofructokinase, muscle type isoform 2
NM_001166686.2 NP_001160158.1 ATP-dependent 6-phosphofructokinase, muscle type isoform 1
NM_001166687.2 NP_001160159.1 ATP-dependent 6-phosphofructokinase, muscle type isoform 2
NM_001166688.2 NP_001160160.1 ATP-dependent 6-phosphofructokinase, muscle type isoform 2
NM_001354735.1 NP_001341664.1 ATP-dependent 6-phosphofructokinase, muscle type isoform 3
NM_001354736.1 NP_001341665.1 ATP-dependent 6-phosphofructokinase, muscle type isoform 3
NM_001354737.1 NP_001341666.1 ATP-dependent 6-phosphofructokinase, muscle type isoform 1
NM_001354738.1 NP_001341667.1 ATP-dependent 6-phosphofructokinase, muscle type isoform 1
NM_001354739.1 NP_001341668.1 ATP-dependent 6-phosphofructokinase, muscle type isoform 1
NM_001354740.1 NP_001341669.1 ATP-dependent 6-phosphofructokinase, muscle type isoform 4
NM_001354741.2 NP_001341670.1 ATP-dependent 6-phosphofructokinase, muscle type isoform 5
NM_001354742.2 NP_001341671.1 ATP-dependent 6-phosphofructokinase, muscle type isoform 2
NM_001354743.2 NP_001341672.1 ATP-dependent 6-phosphofructokinase, muscle type isoform 2
NM_001354744.2 NP_001341673.1 ATP-dependent 6-phosphofructokinase, muscle type isoform 2
NM_001354745.2 NP_001341674.1 ATP-dependent 6-phosphofructokinase, muscle type isoform 6
NM_001354746.2 NP_001341675.1 ATP-dependent 6-phosphofructokinase, muscle type isoform 7
NM_001354747.2 NP_001341676.1 ATP-dependent 6-phosphofructokinase, muscle type isoform 8
NM_001354748.2 NP_001341677.1 ATP-dependent 6-phosphofructokinase, muscle type isoform 8
NM_001363619.2 NP_001350548.1 ATP-dependent 6-phosphofructokinase, muscle type isoform 9

PFKM Protein Structure

PFK

PFK: Phosphofructokinase (16 - 326)

PFK

PFK: Phosphofructokinase (402 - 685)

  • 0
  • 200
  • 400
  • 600
  • 780 a.a.
Protein Preferred Names Protein Names

ATP-dependent 6-phosphofructokinase, muscle type

  • 6-phosphofructo-1-kinase

PFKM Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
PFKM P08237 PFKL Homo sapiens P17858
Y2H
21988832
Intra
PFKM P08237 PFKL Homo sapiens P17858
Affinity Chrom
6444721
Intra
PFKM P08237 Hoxa1 Mus musculus P09022
Y2H
23088713
Intra
PFKM P08237 PFKM Homo sapiens P08237
Affinity Chrom
6444721
Intra
PFKM P08237 SIAH1 Homo sapiens Q8IUQ4
Y2H Prey Pooling
25416956
Intra
PFKM P08237 MAPK3 Homo sapiens P27361
Y2H
18624398
Intra
PFKM P08237 PFKM Homo sapiens P08237
Y2H Array
25416956
Intra
PFKM P08237 LSM7 Homo sapiens Q9UK45
Y2H Array
21988832
Intra
PFKM P08237 DLC1 Homo sapiens Q96QB1
Y2H Array
24412244
Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant PFKM Proteins

Cat. No. Product Name Accession Purity
HY-P71090 PFKM Protein, Human (HEK293, His) P08237-1 (T2-V780) ≥ 95%, as determined by reducing SDS-PAGE.
HY-P74635 PFKM Protein, Human (sf9, His-GST) P08237-1 (T2-V780) ≥ 90%, as determined by reducing SDS-PAGE.

PFKM Antibodies

Cat. No. Product Name Application Reactivity
HY-P81970 Fructose 6 Phosphate Kinase Antibody (YA1715) WB, ICC/IF Human, Mouse, Rat
HY-P81970A Fructose 6 Phosphate Kinase Antibody (YA1715)(PBS only) WB, ICC/IF Human, 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
Myoglobinuria
Glycogen Storage Disease V

  • Mcardle Disease

  • Myophosphorylase Deficiency

  • Glycogen Storage Disease Type V

  • Muscle Glycogen Phosphorylase Deficiency

  • Pygm Deficiency

  • Gsd V

  • Glycogen Storage Disease, Type V

  • Glycogenosis Type V

  • Glycogen Storage Disease Type 5

  • GSD5

  • Pygmy

  • Mcardle'S Disease

  • Mcardle Type Glycogen Storage Disease

  • Gsd Type V

  • Pygmy, African

  • Gsdv

  • Gsd 5

  • Glycogenosis 5

  • Mcardle Syndrome

  • Muscle Phosphorylase Deficiency

  • Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency

  • Gsd Due To Muscle Glycogen Phosphorylase Deficiency

  • Gsd Type 5

  • Glycogenosis Due To Muscle Glycogen Phosphorylase Deficiency

  • Glycogenosis Type 5

  • Glycogen Storage Disease 5

  • Gsd-V

  • Mcardles Disease

  • Storage Disease, Glycogen, Type V
Hyperuricemia

  • Blood Urate Raized

  • Uricacidemia
Myopathy

  • Muscular Diseases

  • Myopathies
Down Syndrome

  • Trisomy 21

  • Complete Trisomy 21 Syndrome

  • Down'S Syndrome

  • Trisomy 21 Syndrome

  • Down'S Syndrome - Trisomy 21

  • Downs Syndrome

  • G Trisomy

  • 47,Xx,+21

  • 47,Xy,+21

  • Trisomy G

  • Down Syndrome, Susceptibility To

  • Chromosome 21 Trisomy

  • Trisomy 21 Nos

  • Abnormal Autosomes 21
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 3

  • MLASA3
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
Type 2 Diabetes Mellitus

  • Insulin Resistance

  • NIDDM

  • Type 2 Diabetes

  • Diabetes Mellitus, Non-Insulin-Dependent

  • T2D

  • Noninsulin-Dependent Diabetes Mellitus

  • Diabetes Mellitus, Type Ii

  • Maturity-Onset Diabetes

  • Insulin Resistance, Severe, Digenic

  • Diabetes Mellitus, Type 2

  • Diabetes Mellitus, Noninsulin-Dependent

  • Diabetes Mellitus, Noninsulin-Dependent, Association With

  • Diabetes Mellitus, Noninsulin-Dependent, Late Onset

  • Hypertension, Insulin Resistance-Related, Susceptibility To

  • Insulin Resistance, Susceptibility To

  • Non-Insulin-Dependent Diabetes Mellitus

  • Type Ii Diabetes Mellitus

  • Adult-Onset Diabetes Mellitus

  • Maturity-Onset Diabetes Mellitus

  • Diabetes Mellitus Type 2

  • Type Ii Diabetes

  • Type 2 Diabetes Mellitus, Susceptibility To

  • Diabetes, Type 2

  • Diabetes Mellitus, Noninsulin-Dependent, Susceptibility To

  • Diabetes Mellitus, Non-Insulin-Dependent, Susceptibility To

  • Diabetes Mellitus, Type 2, Susceptibility To

  • Diabetes Mellitus, Noninsulin-Dependent, 2

  • Diabetes Mellitus, Type Ii, Susceptibility To

  • Hypertension, Insulin Resistance-Related

  • Adult-Onset Diabetes

  • Aodm

  • Diabetes Mellitus, Adult-Onset

  • Diabetes Mellitus Type Ii

  • Diabetes Mellitus Type 2, Susceptibility To

  • Diabetes, Type Ii, Susceptibility To

  • Diabetes Type 2

  • Diabetes Mellitus

  • Adult Onset Diabetes

  • Maturity Onset Diabetes

  • Nonketotic Diabetes

  • Non-Insulin Dependent Diabetes Mellitus

  • T2dm - [Type 2 Diabetes Mellitus]

  • Niddm - [Non Insulin Dependent Diabetes Mellitus]

  • Dm2

  • Dm Type Ii

  • Diabetic Type 2

  • Insulin Requiring Type 2 Diabetes

  • Noninsulin Dependent Diabetes

  • Non-Insulin-Dependent Diabetes Mellitus Without Complications

  • Diabetes Due To Insulin Secretory Defect

  • Diabetes Mellitus Due To Insulin Secretory Defect

  • Non-Insulin-Dependent Diabetes Of The Young

  • Senile Diabetes

  • Nonketotic Hyperglycaemia

  • Stable Diabetes
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 (3)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS18964 Pfkm Mouse Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS10366 PFKM Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS25454 Pfkm Rat Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Rattus norvegicus PFKM RGD RGD:68419
Mus musculus PFKM MGD MGI:97548
Felis catus PFKM VGNC VGNC:68808
Canis familiaris PFKM VGNC VGNC:44447
Macaca mulatta PFKM VGNC VGNC:75961
Bos taurus PFKM VGNC VGNC:32774
Others PFKM NCBI