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PFKM phosphofructokinase, muscle [Homo sapiens (human)]


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_000289 Homo sapiens phosphofructokinase, muscle (PFKM), transcript variant 4, mRNA. GenEZ ORF Cloning In-stock $809.00 $760.00 15
NM_001166686 Homo sapiens phosphofructokinase, muscle (PFKM), transcript variant 1, mRNA. GenEZ ORF Cloning On-demand $899.00 20
NM_001166687 Homo sapiens phosphofructokinase, muscle (PFKM), transcript variant 2, mRNA. GenEZ ORF Cloning In-stock $809.00 $760.00 15
NM_001166688 Homo sapiens phosphofructokinase, muscle (PFKM), transcript variant 3, mRNA. GenEZ ORF Cloning In-stock $809.00 $760.00 15
XM_005268974 PREDICTED: Homo sapiens phosphofructokinase, muscle (PFKM), transcript variant X1, mRNA. GenEZ ORF Cloning On-demand $899.00 20
XM_005268975 PREDICTED: Homo sapiens phosphofructokinase, muscle (PFKM), transcript variant X2, mRNA. GenEZ ORF Cloning On-demand $899.00 20
XM_005268976 PREDICTED: Homo sapiens phosphofructokinase, muscle (PFKM), transcript variant X3, mRNA. GenEZ ORF Cloning On-demand $899.00 20
XM_005268977 PREDICTED: Homo sapiens phosphofructokinase, muscle (PFKM), transcript variant X4, mRNA. GenEZ ORF Cloning On-demand $899.00 20
XM_005268978 PREDICTED: Homo sapiens phosphofructokinase, muscle (PFKM), transcript variant X5, mRNA. GenEZ ORF Cloning On-demand $899.00 20
XM_005268979 PREDICTED: Homo sapiens phosphofructokinase, muscle (PFKM), transcript variant X6, mRNA. GenEZ ORF Cloning On-demand $899.00 20
XM_005268980 PREDICTED: Homo sapiens phosphofructokinase, muscle (PFKM), transcript variant X7, mRNA. GenEZ ORF Cloning On-demand $899.00 20
XM_006719463 PREDICTED: Homo sapiens phosphofructokinase, muscle (PFKM), transcript variant X8, mRNA. GenEZ ORF Cloning On-demand $899.00 20
XM_006719464 PREDICTED: Homo sapiens phosphofructokinase, muscle (PFKM), transcript variant X9, mRNA. GenEZ ORF Cloning On-demand $899.00 20

*Business Day

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Gene Symbol PFKM
Entrez Gene ID 5213
Full Name phosphofructokinase, muscle
Synonyms GSD7, PFK-1, PFK1, PFKA, PFKX, PPP1R122
General protein information
Preferred Names
6-phosphofructokinase, muscle type
Names
6-phosphofructokinase, muscle type
PFK-A
phosphohexokinase
phosphofructokinase 1
phosphofructokinase-M
6-phosphofructo-1-kinase
phosphofructo-1-kinase isozyme A
phosphofructokinase, polypeptide X
NP_000280.1
NP_001160158.1
NP_001160159.1
NP_001160160.1
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

12

12q13.3

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].
Disorder

MIM: 610681

Glycogen storage disease VII, 232800 (3)

mRNA Protein Product Sequence Price Select
NM_000289, 266453668 NP_000280, 4505749 6-phosphofructokinase, muscle type isoform 2 ORF Sequence $660.00
NM_001166686, 266453618 NP_001160158, 266453619 6-phosphofructokinase, muscle type isoform 1 ORF Sequence $750.00
NM_001166687, 266453747 NP_001160159, 266453748 6-phosphofructokinase, muscle type isoform 2 ORF Sequence $660.00
NM_001166688, 266453767 NP_001160160, 266453768 6-phosphofructokinase, muscle type isoform 2 ORF Sequence $660.00
XM_005268974, 530400461 XP_005269031, 530400462 6-phosphofructokinase, muscle type isoform X1 ORF Sequence $750.00
XM_005268975, 530400463 XP_005269032, 530400464 6-phosphofructokinase, muscle type isoform X2 ORF Sequence $750.00
XM_005268976, 530400465 XP_005269033, 530400466 6-phosphofructokinase, muscle type isoform X3 ORF Sequence $750.00
XM_005268977, 530400467 XP_005269034, 530400468 6-phosphofructokinase, muscle type isoform X4 ORF Sequence $750.00
XM_005268978, 578823891 XP_005269035, 530400470 6-phosphofructokinase, muscle type isoform X5 ORF Sequence $750.00
XM_005268979, 530400471 XP_005269036, 530400472 6-phosphofructokinase, muscle type isoform X6 ORF Sequence $750.00
XM_005268980, 530400473 XP_005269037, 530400474 6-phosphofructokinase, muscle type isoform X7 ORF Sequence $750.00
XM_006719463, 578823892 XP_006719526, 578823893 6-phosphofructokinase, muscle type isoform X8 ORF Sequence $750.00
XM_006719464, 578823894 XP_006719527, 578823895 6-phosphofructokinase, muscle type isoform X9 ORF Sequence $750.00
KEGG
hsa00052Galactose metabolism
hsa00051Fructose and mannose metabolism
hsa00010Glycolysis / Gluconeogenesis
hsa00030Pentose phosphate pathway
hsa_M00001Glycolysis (Embden-Meyerhof pathway), glucose => pyruvate
hsa01230Biosynthesis of amino acids
hsa01200Carbon metabolism
hsa04152AMPK signaling pathway
WikiPathways
WP534Glycolysis and Gluconeogenesis
WP481Insulin Signaling
Pathway Interaction Database
myc_activpathwayValidated targets of C-MYC transcriptional activation
BIOCYC
META_ANAEROFRUCAT-PWYhomolactic fermentation
HUMAN_GLYCOLYSISglycolysis I
META_PWY66-400glycolysis VI (metazoan)
Reactome
REACT_1383Glycolysis
REACT_474Metabolism of carbohydrates
REACT_723Glucose metabolism
REACT_111217Metabolism
REACT_116125Disease
REACT_200783Myoclonic epilepsy of Lafora
REACT_200833Glycogen storage diseases
Homo sapiens (human)PFKMNP_001160158.1
Pan troglodytes (chimpanzee)PFKMXP_509029.2
Macaca mulatta (Rhesus monkey)PFKMXP_001096244.1
Canis lupus familiaris (dog)PFKMNP_001003199.1
Bos taurus (cattle)PFKMNP_001068736.1
Mus musculus (house mouse)PfkmNP_067489.3
Rattus norvegicus (Norway rat)PfkmNP_113903.1
Gallus gallus (chicken)PFKMNP_989554.2
Danio rerio (zebrafish)pfkmbNP_001082886.1
Danio rerio (zebrafish)pfkmaNP_001004575.1
Drosophila melanogaster (fruit fly)PfkNP_724891.2
Caenorhabditis elegansY71H10A.1NP_741738.1
Xenopus (Silurana) tropicalis (western clawed frog)pfkmXP_004911968.1
Process
IDNameEvidence
GO:0005975carbohydrate metabolic processTAS
GO:0006002fructose 6-phosphate metabolic processIDA
GO:0006002fructose 6-phosphate metabolic processIMP
GO:0006006glucose metabolic processTAS
GO:0006096glycolytic processIEA
GO:0006096glycolytic processIMP
GO:0006096glycolytic processTAS
GO:0032024positive regulation of insulin secretionIEA
GO:0042593glucose homeostasisIEA
GO:0044281small molecule metabolic processTAS
GO:0046716muscle cell cellular homeostasisIMP
GO:0046835carbohydrate phosphorylationIDA
GO:0046835carbohydrate phosphorylationIEA
GO:0046835carbohydrate phosphorylationIMP
GO:0046835carbohydrate phosphorylationISS
GO:0051259protein oligomerizationIDA
Component
IDNameEvidence
GO:0005829cytosolTAS
GO:00059456-phosphofructokinase complexIDA
GO:0016324apical plasma membraneIDA
GO:0070062extracellular vesicular exosomeIDA
Function
IDNameEvidence
GO:00038726-phosphofructokinase activityIDA
GO:00038726-phosphofructokinase activityIMP
GO:00038726-phosphofructokinase activityISS
GO:0005515protein bindingIPI
GO:0005524ATP bindingIDA
GO:0008022protein C-terminus bindingIPI
GO:0019900kinase bindingIPI
GO:0042802identical protein bindingIPI
GO:0046872metal ion bindingIEA
GO:0070061fructose bindingIDA
GeneCards PFKM
UniProt P08237
Vega OTTHUMG00000169898
MIM 610681
Ensembl ENSG00000152556
HGNC 8877
HPRD 01988

Related articles in PubMed

GeneRIFs: Gene References Into Functions What's a GeneRIF?

What is the normal function of the PFKM gene?

The PFKM gene provides instructions for making one piece (the PFKM subunit) of an enzyme called phosphofructokinase. This enzyme plays a role in the breakdown of a complex sugar called glycogen, which is a major source of stored energy in the body. The phosphofructokinase enzyme is made up of four subunits and is found in a variety of tissues. Different combinations of subunits are found in different tissues. In muscles used for movement (skeletal muscles), the phosphofructokinase enzyme is composed solely of subunits produced from the PFKM gene.

The cells' main source of energy is stored as glycogen. Glycogen can be broken down rapidly into the simple sugar glucose when energy is needed, for instance to maintain normal blood sugar levels between meals or for energy during exercise. Phosphofructokinase composed of PFKM subunits is involved in the sequence of events that breaks down glycogen to provide energy to muscle cells. Specifically, the enzyme converts a molecule called fructose-6-phosphate to a molecule called fructose 1,6-bisphosphate.

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