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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

HCOP human homology predictions: PFKM
Protein SuperFamily: ATP-dependent phosphofructokinase, eukaryotic type
Gene Tree: Pfkm

Human
homologs
PFKM, phosphofructokinase, muscle
Orthology source: HGNC, HomoloGene

IDs:
NCBI Gene ID: 5213
neXtProt AC: NX_P08237

Human Synonyms: ATP-PFK, GSD7, PFK1, PFK-1, PFKA, PFKX, PPP1R122

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

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 in Mice Using Pfkm (1)    Mutations Annotated to Human Diseases (1)    Phenotype Images(6)
Interactions
Pfkm interacts with 71 markers (Mir9-1, Mir9-2, Mir9-3, ...)
Gene Ontology
(GO)
classifications
Expression
Literature Summary: (7 records)
Data Summary: Results (220)    Tissues (122)    Images (34)    Tissue x Stage Matrix (view)
Assay TypeResults
RNA in situ 177
Northern blot 16
RT-PCR 27
cDNA source data(115)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: Xenbase pfkm ; ZFIN pfkma, pfkmb    NEW 
Molecular
reagents
All nucleic(126) Genomic(1) cDNA(115) Primer pair(8) Other(2)
Microarray probesets(3)
Other database
links
Ensembl Gene Model ENSMUSG00000033065 (Evidence)
Entrez Gene 18642 (Evidence)
UniGene 272582
DFCI TC1574443, TC1689242
DoTS DT.101376626, DT.491179, DT.94357800
NIA Mouse Gene Index U016618
EC 2.7.1.11
Consensus CDS Project CCDS27786.1
International Mouse Phenotyping Consortium Status Pfkm
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(53) RefSeq(10) UniProt(4)
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: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
All references(53)
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
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last database update
08/18/2015
MGI 6.0
The Jackson Laboratory