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Pfkm phosphofructokinase, muscle [ Mus musculus (house mouse) ]

Gene ID: 18642, updated on 27-Nov-2024

Summary

Official Symbol
Pfkmprovided by MGI
Official Full Name
phosphofructokinase, muscleprovided by MGI
Primary source
MGI:MGI:97548
See related
Ensembl:ENSMUSG00000033065 AllianceGenome:MGI:97548
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
Pfk4; Pfka; Pfkx; PFK-A; PFK-M; Pfk-4; ATP-PFK
Summary
Enables 6-phosphofructokinase activity and identical protein binding activity. Involved in canonical glycolysis. Acts upstream of or within glucose homeostasis; polysaccharide catabolic process; and positive regulation of insulin secretion. Located in sperm principal piece. Is active in cytosol. Is expressed in several structures, including alimentary system; cardiovascular system; central nervous system; genitourinary system; and musculoskeletal system. Used to study glycogen storage disease VII. Human ortholog(s) of this gene implicated in glycogen storage disease VII. Orthologous to human PFKM (phosphofructokinase, muscle). [provided by Alliance of Genome Resources, Nov 2024]
Expression
Broad expression in heart adult (RPKM 178.4), cerebellum adult (RPKM 100.9) and 18 other tissues See more
Orthologs
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Genomic context

See Pfkm in Genome Data Viewer
Location:
15 F1; 15 54.09 cM
Exon count:
26
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 15 NC_000081.7 (97990470..98030328)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 15 NC_000081.6 (98092589..98132447)

Chromosome 15 - NC_000081.7Genomic Context describing neighboring genes Neighboring gene predicted gene, 41395 Neighboring gene SUMO1/sentrin specific peptidase 1 Neighboring gene CapStarr-seq enhancer MGSCv37_chr15:97898039-97898148 Neighboring gene predicted gene, 25668 Neighboring gene STARR-seq mESC enhancer starr_39649 Neighboring gene STARR-positive B cell enhancer ABC_E10879 Neighboring gene STARR-positive B cell enhancer ABC_E5514 Neighboring gene STARR-seq mESC enhancer starr_39650 Neighboring gene STARR-seq mESC enhancer starr_39651 Neighboring gene STARR-seq mESC enhancer starr_39652 Neighboring gene ankyrin repeat and SOCS box-containing 8 Neighboring gene STARR-seq mESC enhancer starr_39654 Neighboring gene STARR-positive B cell enhancer ABC_E5515 Neighboring gene coiled-coil domain containing 184

Genomic regions, transcripts, and products

Expression

  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables 6-phosphofructokinase activity IBA
Inferred from Biological aspect of Ancestor
more info
 
enables 6-phosphofructokinase activity IDA
Inferred from Direct Assay
more info
PubMed 
enables 6-phosphofructokinase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
enables 6-phosphofructokinase activity ISO
Inferred from Sequence Orthology
more info
 
enables 6-phosphofructokinase activity ISS
Inferred from Sequence or Structural Similarity
more info
 
enables AMP binding ISO
Inferred from Sequence Orthology
more info
 
enables ATP binding IEA
Inferred from Electronic Annotation
more info
 
enables ATP binding ISO
Inferred from Sequence Orthology
more info
 
enables carbohydrate binding ISO
Inferred from Sequence Orthology
more info
 
enables fructose binding IEA
Inferred from Electronic Annotation
more info
 
enables fructose binding ISO
Inferred from Sequence Orthology
more info
 
enables fructose-6-phosphate binding IBA
Inferred from Biological aspect of Ancestor
more info
 
enables fructose-6-phosphate binding ISO
Inferred from Sequence Orthology
more info
 
enables identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables identical protein binding ISO
Inferred from Sequence Orthology
more info
 
enables kinase binding IEA
Inferred from Electronic Annotation
more info
 
enables kinase binding ISO
Inferred from Sequence Orthology
more info
 
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
 
enables phosphofructokinase activity IDA
Inferred from Direct Assay
more info
PubMed 
enables phosphofructokinase activity ISO
Inferred from Sequence Orthology
more info
 
Process Evidence Code Pubs
involved_in canonical glycolysis IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in canonical glycolysis IDA
Inferred from Direct Assay
more info
PubMed 
involved_in canonical glycolysis IGI
Inferred from Genetic Interaction
more info
PubMed 
acts_upstream_of_or_within canonical glycolysis IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in carbohydrate phosphorylation IEA
Inferred from Electronic Annotation
more info
 
involved_in fructose 1,6-bisphosphate metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in fructose 1,6-bisphosphate metabolic process ISO
Inferred from Sequence Orthology
more info
 
involved_in fructose 6-phosphate metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in fructose 6-phosphate metabolic process IEA
Inferred from Electronic Annotation
more info
 
involved_in fructose 6-phosphate metabolic process ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within glucose homeostasis IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within glycogen catabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within glycolysis from storage polysaccharide through glucose-1-phosphate IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in glycolytic process ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within glycolytic process through fructose-6-phosphate IC
Inferred by Curator
more info
PubMed 
involved_in glycolytic process through fructose-6-phosphate IC
Inferred by Curator
more info
PubMed 
acts_upstream_of_or_within glycolytic process through fructose-6-phosphate IDA
Inferred from Direct Assay
more info
PubMed 
involved_in glycolytic process through fructose-6-phosphate IDA
Inferred from Direct Assay
more info
PubMed 
acts_upstream_of_or_within glycolytic process through fructose-6-phosphate IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in glycolytic process through fructose-6-phosphate ISO
Inferred from Sequence Orthology
more info
 
involved_in muscle cell cellular homeostasis IEA
Inferred from Electronic Annotation
more info
 
involved_in muscle cell cellular homeostasis ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within positive regulation of insulin secretion IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of transcription by RNA polymerase II IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of transcription by RNA polymerase II ISO
Inferred from Sequence Orthology
more info
 
Component Evidence Code Pubs
part_of 6-phosphofructokinase complex IBA
Inferred from Biological aspect of Ancestor
more info
 
part_of 6-phosphofructokinase complex IEA
Inferred from Electronic Annotation
more info
 
part_of 6-phosphofructokinase complex ISO
Inferred from Sequence Orthology
more info
 
located_in apical plasma membrane IEA
Inferred from Electronic Annotation
more info
 
located_in apical plasma membrane ISO
Inferred from Sequence Orthology
more info
 
is_active_in cytosol IDA
Inferred from Direct Assay
more info
PubMed 
located_in cytosol IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in membrane IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in nucleus IEA
Inferred from Electronic Annotation
more info
 
located_in nucleus ISO
Inferred from Sequence Orthology
more info
 
located_in sperm principal piece IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
ATP-dependent 6-phosphofructokinase, muscle type
Names
6-phosphofructokinase type A
6-phosphofructokinase, muscle type
phosphofructo-1-kinase isozyme A
phosphofructokinase 1
phosphofructokinase 4
phosphofructokinase M variant 3/4
phosphofructokinase, polypeptide X
phosphofructokinase-1 A isozyme
phosphofructokinase-M (connecting peptide)
phosphohexokinase
NP_001156959.1
NP_001156960.1
NP_001344617.1
NP_067489.3
XP_006520664.1
XP_030104272.1

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001163487.1NP_001156959.1  ATP-dependent 6-phosphofructokinase, muscle type

    See identical proteins and their annotated locations for NP_001156959.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the predominant transcript. Variants 1, 2, 3 and 4 encode the same protein.
    Source sequence(s)
    AA420165, AI930496, AK002711, CX218942
    Consensus CDS
    CCDS27786.1
    UniProtKB/Swiss-Prot
    C8CMN5, C8CMN6, C8CMN7, O35513, P47857, Q543L1, Q9JK94
    UniProtKB/TrEMBL
    Q99K08
    Related
    ENSMUSP00000059801.7, ENSMUST00000051226.8
    Conserved Domains (1) summary
    cd00764
    Location:13774
    Eukaryotic_PFK; Phosphofructokinase, a key regulatory enzyme in glycolysis, catalyzes the phosphorylation of fructose-6-phosphate to fructose-1,6-biphosphate. The members belong to a subfamily of the PFKA family (cd00363) and include eukaryotic ATP-dependent ...
  2. NM_001163488.1NP_001156960.1  ATP-dependent 6-phosphofructokinase, muscle type

    See identical proteins and their annotated locations for NP_001156960.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) contains an alternative 5' non-coding exon compared to variant 1. Variants 1, 2, 3 and 4 encode the same protein.
    Source sequence(s)
    AA420165, AC113444, AK002711, BY226660
    Consensus CDS
    CCDS27786.1
    UniProtKB/Swiss-Prot
    C8CMN5, C8CMN6, C8CMN7, O35513, P47857, Q543L1, Q9JK94
    UniProtKB/TrEMBL
    Q99K08
    Related
    ENSMUSP00000132803.2, ENSMUST00000163507.8
    Conserved Domains (1) summary
    cd00764
    Location:13774
    Eukaryotic_PFK; Phosphofructokinase, a key regulatory enzyme in glycolysis, catalyzes the phosphorylation of fructose-6-phosphate to fructose-1,6-biphosphate. The members belong to a subfamily of the PFKA family (cd00363) and include eukaryotic ATP-dependent ...
  3. NM_001357688.1NP_001344617.1  ATP-dependent 6-phosphofructokinase, muscle type

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) contains an alternative 5' non-coding exon compared to variant 1. Variants 1, 2, 3 and 4 encode the same protein.
    Source sequence(s)
    AC113444
    Consensus CDS
    CCDS27786.1
    UniProtKB/Swiss-Prot
    C8CMN5, C8CMN6, C8CMN7, O35513, P47857, Q543L1, Q9JK94
    UniProtKB/TrEMBL
    Q99K08
    Conserved Domains (1) summary
    cd00764
    Location:13774
    Eukaryotic_PFK; Phosphofructokinase, a key regulatory enzyme in glycolysis, catalyzes the phosphorylation of fructose-6-phosphate to fructose-1,6-biphosphate. The members belong to a subfamily of the PFKA family (cd00363) and include eukaryotic ATP-dependent ...
  4. NM_021514.4NP_067489.3  ATP-dependent 6-phosphofructokinase, muscle type

    See identical proteins and their annotated locations for NP_067489.3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1, 2, 3 and 4 encode the same protein.
    Source sequence(s)
    AA420165, AK002711, BY782498
    Consensus CDS
    CCDS27786.1
    UniProtKB/Swiss-Prot
    C8CMN5, C8CMN6, C8CMN7, O35513, P47857, Q543L1, Q9JK94
    UniProtKB/TrEMBL
    Q99K08
    Conserved Domains (1) summary
    cd00764
    Location:13774
    Eukaryotic_PFK; Phosphofructokinase, a key regulatory enzyme in glycolysis, catalyzes the phosphorylation of fructose-6-phosphate to fructose-1,6-biphosphate. The members belong to a subfamily of the PFKA family (cd00363) and include eukaryotic ATP-dependent ...

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000081.7 Reference GRCm39 C57BL/6J

    Range
    97990470..98030328
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_030248412.1XP_030104272.1  ATP-dependent 6-phosphofructokinase, muscle type isoform X2

    UniProtKB/Swiss-Prot
    C8CMN5, C8CMN6, C8CMN7, O35513, P47857, Q543L1, Q9JK94
    UniProtKB/TrEMBL
    Q99K08
    Conserved Domains (1) summary
    cd00764
    Location:13774
    Eukaryotic_PFK; Phosphofructokinase, a key regulatory enzyme in glycolysis, catalyzes the phosphorylation of fructose-6-phosphate to fructose-1,6-biphosphate. The members belong to a subfamily of the PFKA family (cd00363) and include eukaryotic ATP-dependent ...
  2. XM_006520601.4XP_006520664.1  ATP-dependent 6-phosphofructokinase, muscle type isoform X1

    UniProtKB/TrEMBL
    Q99K08
    Conserved Domains (1) summary
    cd00764
    Location:83844
    Eukaryotic_PFK; Phosphofructokinase, a key regulatory enzyme in glycolysis, catalyzes the phosphorylation of fructose-6-phosphate to fructose-1,6-biphosphate. The members belong to a subfamily of the PFKA family (cd00363) and include eukaryotic ATP-dependent ...