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Aliases for PFKM Gene

Aliases for PFKM Gene

  • Phosphofructokinase, Muscle 2 3
  • Phosphofructokinase, Polypeptide X 2 3
  • Phosphofructo-1-Kinase Isozyme A 3 4
  • 6-Phosphofructokinase Type A 3 4
  • Phosphohexokinase 3 4
  • EC 2.7.1.11 4 63
  • ATP-PFK 3 4
  • PFK-A 3 4
  • PFKX 3 4
  • GSD7 3 6
  • ATP-Dependent 6-Phosphofructokinase, Muscle Type 3
  • Protein Phosphatase 1, Regulatory Subunit 122 3
  • 6-Phosphofructokinase, Muscle Type 3
  • 6-Phosphofructo-1-Kinase 3
  • Regulatory Subunit 122 2
  • Protein Phosphatase 1 2
  • Phosphofructokinase 1 3
  • Phosphofructokinase-M 3
  • PPP1R122 3
  • EC 2.7.1 63
  • PFK-1 3
  • PFK-M 4
  • PFK1 3
  • PFKA 3

External Ids for PFKM Gene

Previous HGNC Symbols for PFKM Gene

  • PFKX

Previous GeneCards Identifiers for PFKM Gene

  • GC12P048525
  • GC12P048412
  • GC12P048229
  • GC12P046802
  • GC12P046788
  • GC12P046785
  • GC12P048501
  • GC12P045531

Summaries for PFKM Gene

Entrez Gene Summary for PFKM Gene

  • 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]

GeneCards Summary for PFKM Gene

PFKM (Phosphofructokinase, Muscle) is a Protein Coding gene. Diseases associated with PFKM include glycogen storage disease vii and phosphoglycerate kinase deficiency. Among its related pathways are Akt Signaling and Metabolism. GO annotations related to this gene include identical protein binding and kinase binding. An important paralog of this gene is PFKL.

UniProtKB/Swiss-Prot for PFKM Gene

  • Catalyzes the phosphorylation of D-fructose 6-phosphate to fructose 1,6-bisphosphate by ATP, the first committing step of glycolysis

Gene Wiki entry for PFKM Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PFKM Gene

Genomics for PFKM Gene

Regulatory Elements for PFKM Gene

Genomic Location for PFKM Gene

Start:
48,105,139 bp from pter
End:
48,146,404 bp from pter
Size:
41,266 bases
Orientation:
Plus strand

Genomic View for PFKM Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for PFKM Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PFKM Gene

Proteins for PFKM Gene

  • Protein details for PFKM Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P08237-PFKAM_HUMAN
    Recommended name:
    ATP-dependent 6-phosphofructokinase, muscle type
    Protein Accession:
    P08237
    Secondary Accessions:
    • J3KNX3
    • Q16814
    • Q16815
    • Q6ZTT1

    Protein attributes for PFKM Gene

    Size:
    780 amino acids
    Molecular mass:
    85183 Da
    Cofactor:
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420;
    Quaternary structure:
    • Homo- and heterotetramers. Muscle is M4, liver is L4, and red cell is M3L, M2L2, or ML3. Interacts (via C-terminus) with HK1 (via N-terminal spermatogenic cell-specific region) (By similarity).
    Miscellaneous:
    • In human PFK exists as a system of 3 types of subunits, PFKM (muscle), PFKL (liver) and PFKP (platelet) isoenzymes

    Three dimensional structures from OCA and Proteopedia for PFKM Gene

    Alternative splice isoforms for PFKM Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PFKM Gene

Proteomics data for PFKM Gene at MOPED

Post-translational modifications for PFKM Gene

Antibody Products

  • R&D Systems Antibodies for PFKM (Muscle Phosphofructokinase/PFKM)

Domains for PFKM Gene

Protein Domains for PFKM Gene

Suggested Antigen Peptide Sequences for PFKM Gene

Graphical View of Domain Structure for InterPro Entry

P08237

UniProtKB/Swiss-Prot:

PFKAM_HUMAN :
  • P08237
Domain:
  • Belongs to the phosphofructokinase type A (PFKA) family. ATP-dependent PFK group I subfamily. Eukaryotic two domain clade "E" sub-subfamily.
genes like me logo Genes that share domains with PFKM: view

No data available for Gene Families for PFKM Gene

Function for PFKM Gene

Molecular function for PFKM Gene

GENATLAS Biochemistry:
6-phosphofructo-1-kinase,expressed in muscle,previously assigned to chr 1,fructose metabolism,energy pathway
UniProtKB/Swiss-Prot CatalyticActivity:
ATP + D-fructose 6-phosphate = ADP + D-fructose 1,6-bisphosphate.
UniProtKB/Swiss-Prot EnzymeRegulation:
Allosterically activated by ADP, AMP, or fructose 2,6-bisphosphate, and allosterically inhibited by ATP or citrate
UniProtKB/Swiss-Prot Function:
Catalyzes the phosphorylation of D-fructose 6-phosphate to fructose 1,6-bisphosphate by ATP, the first committing step of glycolysis

Enzyme Numbers (IUBMB) for PFKM Gene

Gene Ontology (GO) - Molecular Function for PFKM Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003872 6-phosphofructokinase activity ISS --
GO:0005515 protein binding IPI 12649290
GO:0005524 ATP binding IDA 8780720
GO:0008022 protein C-terminus binding IPI 12649290
GO:0008443 phosphofructokinase activity --
genes like me logo Genes that share ontologies with PFKM: view
genes like me logo Genes that share phenotypes with PFKM: view

Animal Models for PFKM Gene

MGI Knock Outs for PFKM:

Animal Model Products

miRNA for PFKM Gene

miRTarBase miRNAs that target PFKM

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for PFKM

In Situ Assay Products

Flow Cytometry Products

No data available for Transcription Factor Targeting and HOMER Transcription for PFKM Gene

Localization for PFKM Gene

Subcellular locations from UniProtKB/Swiss-Prot for PFKM Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for PFKM Gene COMPARTMENTS Subcellular localization image for PFKM gene
Compartment Confidence
cytosol 5
plasma membrane 5
chloroplast 2
cytoskeleton 2
extracellular 2
mitochondrion 2
nucleus 2
peroxisome 2
endoplasmic reticulum 1
lysosome 1
vacuole 1

Gene Ontology (GO) - Cellular Components for PFKM Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm --
GO:0005829 cytosol TAS --
GO:0005945 6-phosphofructokinase complex IDA 6444532
GO:0016324 apical plasma membrane IDA 12649290
GO:0070062 extracellular exosome IDA 23376485
genes like me logo Genes that share ontologies with PFKM: view

Pathways for PFKM Gene

genes like me logo Genes that share pathways with PFKM: view

UniProtKB/Swiss-Prot P08237-PFKAM_HUMAN

  • Pathway: Carbohydrate degradation; glycolysis; D-glyceraldehyde 3-phosphate and glycerone phosphate from D-glucose: step 3/4.

Gene Ontology (GO) - Biological Process for PFKM Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005975 carbohydrate metabolic process TAS --
GO:0006002 fructose 6-phosphate metabolic process IMP 6444532
GO:0006006 glucose metabolic process TAS --
GO:0006096 glycolytic process IMP 6444532
GO:0032024 positive regulation of insulin secretion IEA --
genes like me logo Genes that share ontologies with PFKM: view

Compounds for PFKM Gene

(16) HMDB Compounds for PFKM Gene

Compound Synonyms Cas Number PubMed IDs
Adenosine triphosphate
  • 5'-(tetrahydrogen triphosphate) Adenosine
56-65-5
ADP
  • adenosindiphosphorsaeure
58-64-0
Beta-D-Fructose 6-phosphate
  • beta-D-Fructose 6-phosphate
Not Available
CDP
  • CDP
63-38-7
Cytidine triphosphate
  • cytidine 5'-(tetrahydrogen triphosphate)
65-47-4

(11) Novoseek inferred chemical compound relationships for PFKM Gene

Compound -log(P) Hits PubMed IDs
glycogen 59.1 6
phosphocreatine 36.4 1
carnitine 22.6 2
atp 20.9 1
lactate 20.2 2
genes like me logo Genes that share compounds with PFKM: view

Transcripts for PFKM Gene

Unigene Clusters for PFKM Gene

Phosphofructokinase, muscle:
Representative Sequences:

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for PFKM

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for PFKM Gene

ExUns: 1 ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6a · 6b · 6c · 6d · 6e · 6f ^ 7 ^ 8a · 8b · 8c ^ 9a · 9b · 9c ^ 10a · 10b ^ 11a · 11b ^ 12 ^ 13 ^ 14a ·
SP1: - - - - - - - -
SP2: - - - - - - - -
SP3: - -
SP4: - - - - - - - - - - - - - - - - -
SP5: - - - - - - - - - -
SP6:
SP7: - - - - - - -
SP8: - - -
SP9: - -
SP10: - - - - - -
SP11: - - - - - - -
SP12: - - - - - -
SP13: - - - - -
SP14: -
SP15: - - - - - - - - - -
SP16: - - - - - - - - - - -
SP17:

ExUns: 14b · 14c · 14d ^ 15a · 15b · 15c ^ 16 ^ 17a · 17b ^ 18a · 18b ^ 19 ^ 20a · 20b · 20c ^ 21a · 21b ^ 22 ^ 23 ^ 24 ^ 25 ^ 26 ^ 27 ^ 28 ^ 29 ^ 30 ^
SP1: - -
SP2: - -
SP3: - - -
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:
SP15:
SP16:
SP17: -

ExUns: 31 ^ 32
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:
SP15:
SP16:
SP17:

Relevant External Links for PFKM Gene

GeneLoc Exon Structure for
PFKM
ECgene alternative splicing isoforms for
PFKM

Expression for PFKM Gene

mRNA expression in normal human tissues for PFKM Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PFKM Gene

This gene is overexpressed in Muscle - Skeletal (15.4) and Heart - Left Ventricle (5.3).

Protein differential expression in normal tissues for PFKM Gene

This gene is overexpressed in Tonsil (11.7), Retina (10.7), and Heart (10.7).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for PFKM Gene

SOURCE GeneReport for Unigene cluster for PFKM Gene Hs.75160

genes like me logo Genes that share expressions with PFKM: view

Expression partners for PFKM Gene

In Situ Assay Products

No data available for mRNA Expression by UniProt/SwissProt for PFKM Gene

Orthologs for PFKM Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for PFKM Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia PFKM 35
  • 90.97 (n)
  • 97.05 (a)
PFKM 36
  • 97 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PFKM 35
  • 91.97 (n)
  • 97.05 (a)
PFKM 36
  • 95 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Pfkm 35
  • 90.17 (n)
  • 97.82 (a)
Pfkm 16
Pfkm 36
  • 98 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia PFKM 35
  • 99.88 (n)
  • 100 (a)
PFKM 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Pfkm 35
  • 90.3 (n)
  • 96.67 (a)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 76 (a)
ManyToMany
chicken
(Gallus gallus)
Aves PFKM 35
  • 75.89 (n)
  • 83.97 (a)
PFKM 36
  • 82 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PFKM 36
  • 85 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pfkm 35
  • 72.18 (n)
  • 83.85 (a)
zebrafish
(Danio rerio)
Actinopterygii pfkma 35
  • 71.74 (n)
  • 79.79 (a)
pfkma 36
  • 78 (a)
OneToMany
pfkmb 36
  • 69 (a)
OneToMany
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10447 35
fruit fly
(Drosophila melanogaster)
Insecta Pfk 37
  • 54 (a)
Pfk 35
  • 60.91 (n)
  • 60.86 (a)
Pfk 36
  • 50 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007642 35
  • 61.59 (n)
  • 63.34 (a)
worm
(Caenorhabditis elegans)
Secernentea C50F4.2 37
  • 39 (a)
Y71H10A.1a 37
  • 56 (a)
Y71H10A.1b 37
  • 56 (a)
Y71H10A.1 35
  • 57.07 (n)
  • 56.76 (a)
pfk-1 36
  • 53 (a)
ManyToMany
pfk-2 36
  • 41 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PFK1 36
  • 34 (a)
ManyToMany
PFK2 36
  • 34 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 55 (a)
OneToMany
Species with no ortholog for PFKM:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for PFKM Gene

ENSEMBL:
Gene Tree for PFKM (if available)
TreeFam:
Gene Tree for PFKM (if available)

Paralogs for PFKM Gene

Paralogs for PFKM Gene

genes like me logo Genes that share paralogs with PFKM: view

Variants for PFKM Gene

Sequence variations from dbSNP and Humsavar for PFKM Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type MAF
rs8716 -- 48,145,699(+) GAAGC(G/T)GCCGT synonymous-codon, reference
rs8977 -- 48,145,990(+) ATTTT(C/T)CTAAA utr-variant-3-prime
rs14683 -- 48,145,961(+) TACTG(A/C)TAGAT utr-variant-3-prime
rs725454 -- 48,108,317(-) CAGAC(C/T)TTCCC intron-variant
rs757556 -- 48,108,710(-) TAGAT(A/G)TGTTT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for PFKM Gene

Variant ID Type Subtype PubMed ID
dgv509e1 CNV Complex 17122850
nsv508673 CNV Loss 20534489
nsv8971 CNV Gain+Loss 18304495

Relevant External Links for PFKM Gene

HapMap Linkage Disequilibrium report
PFKM
Human Gene Mutation Database (HGMD)
PFKM

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PFKM Gene

Disorders for PFKM Gene

MalaCards: The human disease database

MalaCards: The human disease database.

Search for PFKM Gene in MalaCards »

(3) Diseases for PFKM Gene including...

(1) OMIM Diseases for PFKM Gene (610681)

UniProtKB/Swiss-Prot

PFKAM_HUMAN
  • Glycogen storage disease 7 (GSD7) [MIM:232800]: A metabolic disorder characterized by exercise intolerance with associated nausea and vomiting, muscle cramping, exertional myopathy and compensated hemolysis. Short bursts of intense activity are particularly difficult. Severe muscle cramps and myoglobinuria develop after vigorous exercise. {ECO:0000269 PubMed:22133655, ECO:0000269 PubMed:24427140, ECO:0000269 PubMed:7513946, ECO:0000269 PubMed:7825568, ECO:0000269 PubMed:8889589}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(3) University of Copenhagen DISEASES for PFKM Gene

(9) Novoseek inferred disease relationships for PFKM Gene

Disease -log(P) Hits PubMed IDs
phosphofructokinase deficiency 98.8 42
mcardles disease 84.9 5
myopathy 67.5 5
hemolysis 54.9 4
hyperuricemia 53 1

Relevant External Links for PFKM

Genetic Association Database (GAD)
PFKM
Human Genome Epidemiology (HuGE) Navigator
PFKM
genes like me logo Genes that share disorders with PFKM: view

No data available for Genatlas for PFKM Gene

Publications for PFKM Gene

  1. Structure of the entire human muscle phosphofructokinase-encoding gene: a two-promoter system. (PMID: 1833270) Yamasaki T. … Tarui S. (Gene 1991) 3 4 23
  2. Alternative splicing of the transcript encoding the human muscle isoenzyme of phosphofructokinase. (PMID: 2140567) Sharma P.M. … McLachlan A. (J. Biol. Chem. 1990) 3 4 23
  3. Mutations in muscle phosphofructokinase gene. (PMID: 7550225) Raben N. … Sherman J.B. (Hum. Mutat. 1995) 3 4 23
  4. Functional expression of human mutant phosphofructokinase in yeast: genetic defects in French Canadian and Swiss patients with phosphofructokinase deficiency. (PMID: 7825568) Raben N. … Heinisch J.J. (Am. J. Hum. Genet. 1995) 3 4 23
  5. Nonsense mutation in the phosphofructokinase muscle subunit gene associated with retention of intron 10 in one of the isolated transcripts in Ashkenazi Jewish patients with Tarui disease. (PMID: 7479776) Vasconcelos O. … Goldfarb L.G. (Proc. Natl. Acad. Sci. U.S.A. 1995) 3 23 48

Products for PFKM Gene

  • Addgene plasmids for PFKM

Sources for PFKM Gene

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