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Pfkm Gene Detail
Summary
  • Symbol
    Pfkm
  • Name
    phosphofructokinase, muscle
  • Synonyms
    Pfk4, Pfk-4, PFK-A, PFK-M, Pfkx
  • Feature Type
    protein coding gene
  • IDs
    MGI:97548
    NCBI Gene: 18642
  • Gene Overview
    MyGene.info: PFKM
  • Alliance
Location & Maps
more
  • Sequence Map
    Chr15:98092589-98132447 bp, + strand
  • From NCBI annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      39859 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 15, 54.09 cM
  • Mapping Data
    3 experiments
Homology
more
  • Human Ortholog
    PFKM, phosphofructokinase, muscle
  • Vertebrate Orthologs
    11
  • Human Ortholog
    PFKM, phosphofructokinase, muscle
    Orthology source: HomoloGene, HGNC
  • Synonyms
    ATP-PFK, GSD7, PFK1, PFK-1, PFKA, PFK-A, PFKX, PPP1R122
  • Links
    NCBI Gene ID: 5213
    neXtProt AC: NX_P08237
    UniProt: P08237

  • Chr Location
    12q13.11; chr12:48105278-48146404 (+)  GRCh38.p7

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
    31 phenotypes from 2 alleles in 2 genetic backgrounds
    4 images
    28 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
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  • All GO Annotations
  • GO References
Molecular Function

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

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
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
synapse
vacuole
Click cells to view annotations.
Expression
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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
  • Tissues
  • cDNA Data
  • Literature Summary
  • Comparison Matrix
  • Interactions
    less
    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
    Polymorphisms
    less
    • SNPs within 2kb
      189 from dbSNP Build 142
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 126
      Genomic 1
      cDNA 115
      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 74
      Developmental Gene Expression 9
      Diseases 2
      Gene Ontology 11
      Phenotypes 28
    • Earliest
      J:7688 Lane PW, et al., Association of megacolon with a new dominant spotting gene (Dom) in the mouse. J Hered. 1984 Nov-Dec;75(6):435-9
    • Latest
      J:240028 Bulusu V, et al., Spatiotemporal Analysis of a Glycolytic Activity Gradient Linked to Mouse Embryo Mesoderm Development. Dev Cell. 2017 Feb 27;40(4):331-341.e4

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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    last database update
    07/03/2018
    MGI 6.12
    The Jackson Laboratory