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Pfkm Gene Detail
Summary
  • Symbol
    Pfkm
  • Name
    phosphofructokinase, muscle
  • Synonyms
    Pfk-4, Pfk4, PFK-A, PFK-M, Pfkx
  • Feature Type
    protein coding gene
  • IDs
    MGI:97548
    NCBI Gene: 18642
  • Alliance
    genome feature page
  • Transcription Start Sites
    8 TSS
Location &
Maps
more
  • Sequence Map
    Chr15:97990470-98030328 bp, + strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 15, 54.09 cM
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    963 from dbSNP Build 142
  • Strain Annotations
    19
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_97548
 protein coding gene Chr15:97990470-98030332 (+)
129S1/SvImJ ENSMUSG00200050303
 protein coding gene Chr15:95175627-95215596 (+)
A/J ENSMUSG00195042901
 protein coding gene Chr15:95023125-95063105 (+)
AKR/J ENSMUSG00220043544
 protein coding gene Chr15:95036114-95075997 (+)
BALB/cJ ENSMUSG00180046353
 protein coding gene Chr15:94967708-95005294 (+)
C3H/HeJ ENSMUSG00175033784
 protein coding gene Chr15:95203366-95243345 (+)
C57BL/6NJ ENSMUSG00215047677
 protein coding gene Chr15:95030590-95068177 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0020221
 protein coding gene Chr15:91788204-91826469 (+)
CAST/EiJ ENSTCUG00005041060
 protein coding gene Chr15:94478579-94516170 (+)
CBA/J ENSMUSG00210025298
 protein coding gene Chr15:94995727-95035606 (+)
DBA/2J ENSMUSG00185034932
 protein coding gene Chr15:95035119-95075076 (+)
FVB/NJ ENSMUSG00205043050
 protein coding gene Chr15:94765731-94803321 (+)
JF1/MsJ ENSUMUG00000032555
 protein coding gene Chr15:94528622-94566280 (+)
LP/J ENSMUSG00230035707
 protein coding gene Chr15:98365724-98405683 (+)
NOD/ShiLtJ ENSMUSG00190037881
 protein coding gene Chr15:95042364-95082323 (+)
NZO/HlLtJ ENSMUSG00225041899
 protein coding gene Chr15:98664298-98704256 (+)
PWK/PhJ ENSLUMG00010037808
 protein coding gene Chr15:94686481-94724678 (+)
SPRET/EiJ ENSMSPG00010038795
 protein coding gene Chr15:96490463-96529704 (+)
WSB/EiJ ENSIUOG00005035617
 protein coding gene Chr15:95105344-95145070 (+)



Homology
more
  • Human Ortholog
    PFKM, phosphofructokinase, muscle
  • Vertebrate Orthologs
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    PFKM, phosphofructokinase, muscle
  • Synonyms
    ATP-PFK, GSD7, PFK-1, PFK1, PFK-A, PFKA, PFKX, PPP1R122
  • Links
    NCBI Gene ID: 5213
    UniProt: P08237

  • Chr Location
    12q13.11; chr12:48105139-48150704 (+)  GRCh38
Human Diseases
more
  • Diseases
    1 with Pfkm mouse models; 1 with human PFKM associations

Human Disease Mouse Models
      
IDs
 View 1 model
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    2 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    44 phenotypes from 3 alleles in 3 genetic backgrounds
    4 images
    41 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
Mice homozygous for a gene trapped allele exhibit abnormal glucose homeostasis. Mice homozygous for a knock-out allele exhibit premature death, exercise intolerance, abnormal glucose homeostasis, cardiomegaly, splenomegaly, and abnormal muscle morphology and physiology.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    79
  • GO References
    23
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
    819
  • Tissues
    124
  • cDNA Data
    116
  • Literature Summary
    13
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 18642 NCBI Gene Model | MGI Sequence Detail 39859 C57BL/6J ±  kb
    transcript NM_001163487 RefSeq | MGI Sequence Detail 2894 C57BL/6  
    polypeptide P47857 UniProt | EBI | MGI Sequence Detail 780 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      6 Sequences
    • Protein Ontology
      PR:000012583 ATP-dependent 6-phosphofructokinase, muscle type
      (term hierarchy)
    • EC
      2.7.1.11
    • InterPro Domains
      IPR022953 ATP-dependent 6-phosphofructokinase
      IPR009161 ATP-dependent 6-phosphofructokinase, eukaryotic-type
      IPR012003 ATP-dependent 6-phosphofructokinase, prokaryotic-type
      IPR041914 ATP-dependent 6-phosphofructokinase, vertebrate-type
      IPR015912 Phosphofructokinase, conserved site
      IPR000023 Phosphofructokinase domain
      IPR035966 Phosphofructokinase superfamily
    • GlyGen
      P47857 4 sites, 2 N-linked glycans (2 sites), 1 O-linked glycan (1 site)
    Molecular
    Reagents
    less
    • All nucleic 127
      Genomic 1
      cDNA 116
      Primer pair 8
      Other 2

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGD-MRK-13244, MGD-MRK-13245, MGD-MRK-13247, MGI:2145952, MGI:97546
    References
    more
    • Summaries
      All 106
      Developmental Gene Expression 13
      Diseases 2
      Gene Ontology 23
      Phenotypes 41
    • Earliest
      J:318723 Barbehenn EK, et al., The explanation for the blockade of glycolysis in early mouse embryos. Proc Natl Acad Sci U S A. 1974 Apr;71(4):1056-60
    • Latest
      J:387680 Ahn B, et al., Disorganization of Transcriptional Regulation and Alteration of Keratin Family Gene Expression in Hairy Ear Mice. Genes (Basel). 2026 Jan 31;17(2)
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    09/08/2026
    MGI 6.24     		The Jackson Laboratory