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Aliases for PFKM Gene

Aliases for PFKM Gene

  • Phosphofructokinase, Muscle 2 3 5
  • 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
  • Protein Phosphatase 1, Regulatory Subunit 122 3
  • 6-Phosphofructokinase, Muscle Type 3
  • Phosphofructokinase Muscle 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
  • GSD7 3
  • 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 glycogen storage disease due to muscle phosphofructokinase deficiency. Among its related pathways are Metabolism and Glycosaminoglycan metabolism. GO annotations related to this gene include protein homodimerization activity and protein C-terminus 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

Promoters for PFKM Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around PFKM on UCSC Golden Path with GeneCards custom track

Genomic Location for PFKM Gene

Chromosome:
12
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

Genes around PFKM on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PFKM Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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 & Families for PFKM Gene

Gene Families 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 :
  • Belongs to the phosphofructokinase type A (PFKA) family. ATP-dependent PFK group I subfamily. Eukaryotic two domain clade "E" sub-subfamily.
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

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:0019900 kinase binding IPI 6444721
GO:0042802 identical protein binding IPI 6444721
GO:0042803 protein homodimerization activity IEA --
GO:0070061 fructose binding IDA 8780720
genes like me logo Genes that share ontologies with PFKM: view
genes like me logo Genes that share phenotypes with PFKM: view

Human Phenotype Ontology for PFKM Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for PFKM Gene

MGI Knock Outs for PFKM:

Animal Model Products

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

No data available for Transcription Factor Targets 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
extracellular 5
plasma membrane 5
endoplasmic reticulum 3
cytoskeleton 2
mitochondrion 2
nucleus 2
peroxisome 2
chloroplast 1
vacuole 1

Gene Ontology (GO) - Cellular Components for PFKM Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0097228 sperm principal piece IEA --
genes like me logo Genes that share ontologies with PFKM: view

Pathways & Interactions 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:0032024 positive regulation of insulin secretion IEA --
GO:0042593 glucose homeostasis IEA --
GO:0044281 small molecule metabolic process TAS --
GO:0051259 protein oligomerization IDA 6444721
genes like me logo Genes that share ontologies with PFKM: view

No data available for SIGNOR curated interactions for PFKM Gene

Drugs & Compounds for PFKM Gene

(13) Drugs for PFKM Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Adenosine triphosphate Approved Nutra 0
CDP Experimental Pharma 0
Cytidine triphosphate Experimental Pharma 0
Guanosine diphosphate Experimental Pharma 0
phosphoenolpyruvate Experimental Pharma 0

(15) Additional Compounds for PFKM Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • Adenosindiphosphorsaeure
  • Adenosine 5'-pyrophosphate
  • Adenosine diphosphate
  • Adenosine pyrophosphate
  • Adenosine-5'-diphosphate
Full agonist, Agonist 58-64-0
beta-D-Fructose 1,6-bisphosphate
Beta-D-Fructose 6-phosphate
  • beta-D-Fructose 6-phosphate
D-Tagatose 1,6-bisphosphate
  • 1,6-Di-O-phosphono-D-tagatofuranose
  • D-tagatofuranose 1,6-bisphosphate
D-Tagatose 6-phosphate
  • 6-O-Phosphono-D-tagatofuranose
  • D-Tagatofuranose 6-(dihydrogen phosphate)
genes like me logo Genes that share compounds with PFKM: view

Transcripts for PFKM Gene

Unigene Clusters for PFKM Gene

Phosphofructokinase, muscle:
Representative Sequences:

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 (x15.4) and Heart - Left Ventricle (x5.3).

Protein differential expression in normal tissues from HIPED for PFKM Gene

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

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with PFKM: view

Protein tissue co-expression partners for PFKM Gene

- Elite partner

Primer Products

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
VAR_006063 Glycogen storage disease 7 (GSD7)
VAR_006064 Glycogen storage disease 7 (GSD7)
VAR_006065 Glycogen storage disease 7 (GSD7)
VAR_006066 Glycogen storage disease 7 (GSD7)
VAR_006067 Glycogen storage disease 7 (GSD7)

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

Variation tolerance for PFKM Gene

Residual Variation Intolerance Score: 5.26% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 12.21; 93.99% of all genes are more intolerant (likely to be disease-causing)

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

(8) MalaCards diseases for PFKM Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
glycogen storage disease vii
  • glycogen storage disease type vii
glycogen storage disease due to muscle phosphofructokinase deficiency
  • glycogen storage disease type vii
mcardle disease
  • glycogen storage disease v
glycogen storage disease
  • glycogenoses
myoglobinuria
- elite association - COSMIC cancer census association via MalaCards
Search PFKM in MalaCards View complete list of genes associated with diseases

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.

Relevant External Links for PFKM

Genetic Association Database (GAD)
PFKM
Human Genome Epidemiology (HuGE) Navigator
PFKM
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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. Identification of three novel mutations in non-Ashkenazi Italian patients with muscle phosphofructokinase deficiency. (PMID: 7513946) Tsujino S. … DiMauro S. (Am. J. Hum. Genet. 1994) 3 4 23 67
  2. Novel testis- and embryo-specific isoforms of the phosphofructokinase-1 muscle type gene. (PMID: 15020257) Yamada S. … Kuehn M.R. (Biochem. Biophys. Res. Commun. 2004) 3 23
  3. Interaction of neuronal nitric-oxide synthase and phosphofructokinase-M. (PMID: 10187848) Firestein B.L. … Bredt D.S. (J. Biol. Chem. 1999) 3 23
  4. Combined defects of muscle phosphofructokinase and AMP deaminase in a child with myoglobinuria. (PMID: 9443500) Bruno C. … DiMauro S. (Neurology 1998) 3 23
  5. Physical and genetic mapping of the muscle phosphofructokinase gene (PFKM): reassignment to human chromosome 12q. (PMID: 8661033) Howard T.D. … Bowden D.W. (Genomics 1996) 3 23

Products for PFKM Gene

Sources for PFKM Gene

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