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; 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		GSD7, PFK1, PFK-1, PFKA, PFKX
Human Chr (Location)		12q13.3; chr12:48499656-48540187 (+)  GRCh37.p10
Disease Associations		(1) Diseases Associated with Human PFKM

Alleles and phenotypes

All alleles(11) : Targeted(4) Gene trapped(7)
 

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)

Gene Ontology (GO) classifications

All GO classifications: (44 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 Type	Results
RNA in situ	177
Northern blot	16
RT-PCR	27

cDNA source data(115)
External Resources: Allen Institute   GEO   ArrayExpress

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 Knockout Project Status	Pfkm

Sequences

Length	Strain/Species
genomic	18642	NCBI Gene Model | MGI Sequence Detail	39859	C57BL/6J
transcript	NM_001163487	RefSeq | MGI Sequence Detail	2894	C57BL/6
polypeptide	P47857	UniProt | EBI | MGI Sequence Detail	780	Not Applicable

All sequences(45) RefSeq(6) UniProt(4)

Polymorphisms

SNPs(118 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
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(53)

Other accession IDs

MGD-MRK-13244, MGD-MRK-13245, MGD-MRK-13247, MGI:2145952, MGI:97546