Pfkm MGI Mouse Gene Detail - MGI:97548 - phosphofructokinase, muscle

Symbol

Pfkm
Name

phosphofructokinase, muscle
Synonyms

Pfk-4, Pfk4, PFK-A, PFK-M, Pfkx

Feature Type

protein coding gene
IDs

MGI:97548
NCBI Gene: 18642
Alliance

gene page
Transcription Start Sites

8 TSS

Sequence Map

Chr15:97990470-98030328 bp, + strand
From NCBI annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 15, 54.09 cM
Mapping Data

3 experiments

SNPs within 2kb

963 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_97548	protein coding gene	Chr15:97990470-98030332 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0022285	protein coding gene	Chr15:99786134-99826434 (+)
A/J	MGP_AJ_G0022244	protein coding gene	Chr15:95837266-95875562 (+)
AKR/J	MGP_AKRJ_G0022219	protein coding gene	Chr15:98731544-98768902 (+)
BALB/cJ	MGP_BALBcJ_G0022250	protein coding gene	Chr15:96062050-96100303 (+)
C3H/HeJ	MGP_C3HHeJ_G0022020	protein coding gene	Chr15:98803093-98842390 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0022695	protein coding gene	Chr15:103469277-103509753 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0020221	protein coding gene	Chr15:91788204-91826469 (+)
CAST/EiJ	MGP_CASTEiJ_G0021542	protein coding gene	Chr15:99686041-99732820 (+)
CBA/J	MGP_CBAJ_G0021987	protein coding gene	Chr15:106931218-106975086 (+)
DBA/2J	MGP_DBA2J_G0022114	protein coding gene	Chr15:95287324-95326668 (+)
FVB/NJ	MGP_FVBNJ_G0022093	protein coding gene	Chr15:94276147-94316495 (+)
LP/J	MGP_LPJ_G0022185	protein coding gene	Chr15:99900328-99937563 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0022113	protein coding gene	Chr15:111043627-111082664 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0022710	protein coding gene	Chr15:98880854-98919503 (+)
PWK/PhJ	MGP_PWKPhJ_G0021283	protein coding gene	Chr15:95395691-95441673 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0021117	protein coding gene	Chr15:98664522-98703446 (+)
WSB/EiJ	MGP_WSBEiJ_G0021591	protein coding gene	Chr15:99398420-99437782 (+)

Human Ortholog

PFKM, phosphofructokinase, muscle

Vertebrate Orthologs

4

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

PFKM, phosphofructokinase, muscle
Synonyms

ATP-PFK, GSD7, PFK-1, PFK1, PFK-A, PFKA, PFKX, PPP1R122
Links

HGNC:8877

NCBI Gene ID: 5213

neXtProt AC: NX_P08237

UniProt: P08237
Chr Location

12q13.11; chr12:48105139-48146404 (+) GRCh38

MGI Vertebrate Homology

Pfkm stringent orthology
1 human;1 mouse;1 rat;2 zebrafish
HCOP

vertebrate homology predictions: PFKM
Gene Tree

Pfkm

Diseases

1 with Pfkm mouse models; 1 with human PFKM associations

Human Disease

Mouse Models

glycogen storage disease VII

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

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Phenotype Summary

43 phenotypes from 3 alleles in 3 genetic backgrounds
4 images
35 phenotype references

Phenotype Overview

Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.

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

17
Chemically induced (other)

1
Endonuclease-mediated

3
Gene trapped

7
Radiation induced

2
Targeted

4
Genomic Mutations

3 involving Pfkm
Incidental Mutations

Mutagenetix , APF
Find Mice (IMSR)

31 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

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.

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All GO Annotations

62
GO References

18

Molecular Function

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

Biological Process

carbohydrate derivative metabolism	cell differentiation	cell population proliferation	cellular component organization	DNA-templated transcription	establishment of localization	homeostatic process	immune system process	lipid metabolic process	programmed cell death	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	membraneless organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	protein-containing complex	synapse	vacuole

Click cells to view annotations.

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Expression Overview

GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.

Blue cells = expressed in wild-type.
Gray triangles = other expression annotations only
(e.g. absence of expression or data from mutants).

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

928
Tissues

124
cDNA Data

116
Literature Summary

13

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase pfkm

ZFIN pfkma, pfkmb

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All Sequences

75
RefSeq

12
UniProt

6
CCDS

CCDS27786.1

Ensembl

ENSMUSG00000033065 (Evidence)
NCBI Gene

18642

			Length	Strain/Species	Flank
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

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UniProt

6 Sequences
Protein Ontology

PR:000012583 ATP-dependent 6-phosphofructokinase, muscle type

(term hierarchy)
EC

2.7.1.11
InterPro Domains

IPR022953 ATP-dependent 6-phosphofructokinase

IPR009161 ATP-dependent 6-phosphofructokinase, eukaryotic-type

IPR012003 ATP-dependent 6-phosphofructokinase, prokaryotic-type

IPR041914 ATP-dependent 6-phosphofructokinase, vertebrate-type

IPR015912 Phosphofructokinase, conserved site

IPR000023 Phosphofructokinase domain

IPR035966 Phosphofructokinase superfamily
GlyGen

P47857 4 sites, 2 N-linked glycans (2 sites), 1 O-linked glycan (1 site)

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All nucleic 127

Genomic 1

cDNA 116

Primer pair 8

Other 2

Microarray probesets 3

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

Summaries

All 92

Developmental Gene Expression 13

Diseases 2

Gene Ontology 18

Phenotypes 35
Earliest

J:318723 Barbehenn EK, et al., The explanation for the blockade of glycolysis in early mouse embryos. Proc Natl Acad Sci U S A. 1974 Apr;71(4):1056-60
Latest

J:346910 Ayyangar U, et al., Metabolic rewiring of macrophages by epidermal-derived lactate promotes sterile inflammation in the murine skin. EMBO J. 2024 Apr;43(7):1113-1134

TSS for Pfkm:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr132913	Chr15:97990450-97990484 (+)	-3 bp
Tssr132916	Chr15:98006334-98006345 (+)	15,870 bp
Tssr132917	Chr15:98006346-98006362 (+)	15,884 bp
Tssr132918	Chr15:98006363-98006380 (+)	15,902 bp
Tssr132919	Chr15:98006415-98006456 (+)	15,966 bp
Tssr132920	Chr15:98009929-98009947 (+)	19,468 bp
Tssr132921	Chr15:98009950-98009973 (+)	19,492 bp
Tssr132922	Chr15:98029161-98029173 (+)	38,697 bp

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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