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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
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: HGNC, HomoloGene
  • Synonyms
    ATP-PFK, GSD7, PFK1, PFK-1, PFKA, PFKX, PPP1R122
  • Links
    NCBI Gene ID: 5213
    neXtProt AC: NX_P08237

  • Chr Location
    12q13.3; chr12:48105402-48146404 (+)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with Pfkm mouse models; 1 with human PFKM associations

Human Disease Mouse Models
       Glycogen Storage Disease VII; GSD7   OMIM: 232800 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
    27 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.
  • All Mutations and Alleles
    13
  • Chemically induced (other)
    1
  • Gene trapped
    6
  • Radiation induced
    2
  • Targeted
    4
  • Genomic Mutations
    3 involving Pfkm
  • Incidental Mutations
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
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
Interactions
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Sequences &
Gene Models
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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
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  • SNPs within 2kb
    189 from dbSNP Build 142
Protein
Information
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  • UniProt
    4 Sequences
  • Protein Ontology
    PR:000012583 ATP-dependent 6-phosphofructokinase, muscle type
  • EC
  • InterPro Domains
    IPR022953 ATP-dependent 6-phosphofructokinase
    IPR009161 ATP-dependent 6-phosphofructokinase, eukaryotic-type
    IPR015912 Phosphofructokinase, conserved site
    IPR000023 Phosphofructokinase domain
Molecular
Reagents
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  • 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 50
    Developmental Gene Expression 7
    Diseases 2
    Gene Ontology 11
    Phenotypes 27
  • Earliest
    J:4853 Ashley PL, et al., Identification of novel phosphofructokinase loci in mouse and man. Am J Hum Genet. 1986;39:A186 (Abstr.)
  • Latest
    J:222220 Iso T, et al., Capillary endothelial fatty acid binding proteins 4 and 5 play a critical role in fatty acid uptake in heart and skeletal muscle. Arterioscler Thromb Vasc Biol. 2013 Nov;33(11):2549-57

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
08/23/2016
MGI 6.05
The Jackson Laboratory