About   Help   FAQ
Pfkm
Gene Detail
 Symbol
Name
ID
Pfkm
phosphofructokinase, muscle
MGI:97548
Synonyms Pfk4, Pfk-4, PFK-A, PFK-M, Pfkx
Feature Type protein coding gene
Genetic Map
Chromosome 15
54.09 cM
Detailed Genetic Map ± 1 cM


Mapping data(3)
Sequence Map
Chr15:98092589-98132447 bp, + strand
From NCBI annotation of GRCm38

  39859 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:20101  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog; 2 zebrafish

Protein SuperFamily: ATP-dependent phosphofructokinase, eukaryotic type
Gene Tree: Pfkm

Human
homologs
Human Homolog PFKM, phosphofructokinase, muscle
NCBI Gene ID 5213
neXtProt AC  NX_P08237
Human Synonyms  ATP-PFK, GSD7, PFK1, PFK-1, PFKA, PFKX, PPP1R122
Human Chr (Location)  12q13.3; chr12:48105873-48146404 (+)  GRCh38
Disease Associations  (1) Diseases Associated with Human PFKM
Mutations,
alleles, and
phenotypes
All mutations/alleles(11) : Gene trapped(6) Radiation induced(1) Targeted(4)
Genomic Mutations involving Pfkm (1)
Incidental mutations (data from Mutagenetix , APF )
 
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.
 
Human Diseases Modeled Using Mouse Pfkm (1)    Alleles Annotated to Human Diseases(1)    Phenotype Images(4)
Interactions
Pfkm interacts with 71 markers (Mir9-1, Mir9-2, Mir9-3, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (49 annotations)
Process carbohydrate phosphorylation, fructose 1,6-bisphosphate metabolic process, ...
Component 6-phosphofructokinase complex, apical plasma membrane, ...
Function 6-phosphofructokinase activity, AMP binding, ...
This is a GO Consortium Reference Genome Project gene.
External Resources: FuncBase
Expression
Literature Summary: (6 records)
Data Summary: Results (220)    Tissues (122)    Images (34)
Theiler Stages: 11, 13, 15, 17, 19, 20, 21, 22, 23, 28
Assay TypeResults
RNA in situ 177
Northern blot 16
RT-PCR 27
cDNA source data(115)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(126) Genomic(1) cDNA(115) Primer pair(8) Other(2)
Microarray probesets(3)
Other database
links
Ensembl Gene ModelENSMUSG00000033065 (Evidence)
Entrez Gene18642 (Evidence)
UniGene272582
DFCITC1574443, TC1689242
DoTSDT.101376626, DT.491179, DT.94357800
NIA Mouse Gene IndexU016618
EC2.7.1.11
Consensus CDS ProjectCCDS27786.1
International Mouse Knockout Project StatusPfkm
Sequences
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 sequences
All sequences(55) RefSeq(12) UniProt(6)
Polymorphisms SNPs within 2kb(190 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR009161 6-phosphofructokinase, eukaryotic type
InterPro IPR022953 Phosphofructokinase
InterPro IPR015912 Phosphofructokinase, conserved site
InterPro IPR000023 Phosphofructokinase domain
Protein Ontology PR:000012583 6-phosphofructokinase, muscle type
Graphical View of Protein Domain Structure
References (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:168606 Leite TC, et al., Lactate downregulates the glycolytic enzymes hexokinase and phosphofructokinase in diverse tissues from mice. FEBS Lett. 2011 Jan 3;585(1):92-8
All references(54)
Disease annotation references (1)
Other
accession IDs
MGD-MRK-13244, MGD-MRK-13245, MGD-MRK-13247, MGI:2145952, MGI:97546

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
09/16/2014
MGI 5.19
The Jackson Laboratory