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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
    gene 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
    18
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 MGP_129S1SvImJ_G0022285
 protein coding gene Chr15:99786134-99826434 (+)
A/J MGP_AJ_G0022244
 protein coding gene Chr15:95837266-95875562 (+)
AKR/J MGP_AKRJ_G0022219
 protein coding gene Chr15:98731544-98768902 (+)
BALB/cJ MGP_BALBcJ_G0022250
 protein coding gene Chr15:96062050-96100303 (+)
C3H/HeJ MGP_C3HHeJ_G0022020
 protein coding gene Chr15:98803093-98842390 (+)
C57BL/6NJ MGP_C57BL6NJ_G0022695
 protein coding gene Chr15:103469277-103509753 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0020221
 protein coding gene Chr15:91788204-91826469 (+)
CAST/EiJ MGP_CASTEiJ_G0021542
 protein coding gene Chr15:99686041-99732820 (+)
CBA/J MGP_CBAJ_G0021987
 protein coding gene Chr15:106931218-106975086 (+)
DBA/2J MGP_DBA2J_G0022114
 protein coding gene Chr15:95287324-95326668 (+)
FVB/NJ MGP_FVBNJ_G0022093
 protein coding gene Chr15:94276147-94316495 (+)
LP/J MGP_LPJ_G0022185
 protein coding gene Chr15:99900328-99937563 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0022113
 protein coding gene Chr15:111043627-111082664 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0022710
 protein coding gene Chr15:98880854-98919503 (+)
PWK/PhJ MGP_PWKPhJ_G0021283
 protein coding gene Chr15:95395691-95441673 (+)
SPRET/EiJ MGP_SPRETEiJ_G0021117
 protein coding gene Chr15:98664522-98703446 (+)
WSB/EiJ MGP_WSBEiJ_G0021591
 protein coding gene Chr15:99398420-99437782 (+)



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
    neXtProt AC: NX_P08237
    UniProt: P08237

  • Chr Location
    12q13.11; chr12:48105139-48146404 (+)  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
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  • Phenotype Summary
    43 phenotypes from 3 alleles in 3 genetic backgrounds
    4 images
    35 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
    62
  • GO References
    18
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
non-membrane-bounded 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
    928
  • 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 92
      Developmental Gene Expression 13
      Diseases 2
      Gene Ontology 18
      Phenotypes 35
    • 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:346910 Ayyangar U, et al., Metabolic rewiring of macrophages by epidermal-derived lactate promotes sterile inflammation in the murine skin. EMBO J. 2024 Apr;43(7):1113-1134
    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
    10/29/2024
    MGI 6.24     		The Jackson Laboratory