PFKM (phosphofructokinase, muscle)

2007-04-01  

Identity

HGNC
LOCATION
12q13.11
LOCUSID
ALIAS
ATP-PFK,GSD7,PFK-1,PFK-A,PFK1,PFKA,PFKX,PPP1R122
FUSION GENES

Other Information

Locus ID:

NCBI: 5213
MIM: 610681
HGNC: 8877
Ensembl: ENSG00000152556

Variants:

dbSNP: 5213
ClinVar: 5213
TCGA: ENSG00000152556
COSMIC: PFKM

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000152556ENST00000312352P08237
ENSG00000152556ENST00000312352A0A024R0Y5
ENSG00000152556ENST00000340802P08237
ENSG00000152556ENST00000359794P08237
ENSG00000152556ENST00000359794A0A024R0Y5
ENSG00000152556ENST00000546465F8VP00
ENSG00000152556ENST00000546755F8VNZ1
ENSG00000152556ENST00000547066F8VSF5
ENSG00000152556ENST00000547581F8VTT5
ENSG00000152556ENST00000547587P08237
ENSG00000152556ENST00000547587A0A024R0Y5
ENSG00000152556ENST00000548288F8VUB8
ENSG00000152556ENST00000548345F8VX13
ENSG00000152556ENST00000549003F8VW30
ENSG00000152556ENST00000549022F8VZQ1
ENSG00000152556ENST00000549366F8VVE3
ENSG00000152556ENST00000549941F8VZI0
ENSG00000152556ENST00000550257F8VTQ3
ENSG00000152556ENST00000550345P08237
ENSG00000152556ENST00000550345A0A024R0Y5
ENSG00000152556ENST00000550924P08237
ENSG00000152556ENST00000550924A0A024R0Y5
ENSG00000152556ENST00000551339P08237
ENSG00000152556ENST00000551339A0A024R0Y5
ENSG00000152556ENST00000551485F8VSF7
ENSG00000152556ENST00000551804P08237
ENSG00000152556ENST00000551804A0A0S2Z4I1
ENSG00000152556ENST00000552752H0YHB8
ENSG00000152556ENST00000552792F8VYK8
ENSG00000152556ENST00000552989F8VZ53
ENSG00000152556ENST00000629846F8VSF7
ENSG00000152556ENST00000642730A0A2R8Y891

Expression (GTEx)

0
100
200
300
400
500
600

Pathways

PathwaySourceExternal ID
Glycolysis / GluconeogenesisKEGGko00010
Pentose phosphate pathwayKEGGko00030
Fructose and mannose metabolismKEGGko00051
Galactose metabolismKEGGko00052
Glycolysis / GluconeogenesisKEGGhsa00010
Pentose phosphate pathwayKEGGhsa00030
Fructose and mannose metabolismKEGGhsa00051
Galactose metabolismKEGGhsa00052
RNA degradationKEGGko03018
RNA degradationKEGGhsa03018
Metabolic pathwaysKEGGhsa01100
Glycolysis (Embden-Meyerhof pathway), glucose => pyruvateKEGGhsa_M00001
Glycolysis (Embden-Meyerhof pathway), glucose => pyruvateKEGGM00001
Biosynthesis of amino acidsKEGGhsa01230
Biosynthesis of amino acidsKEGGko01230
Carbon metabolismKEGGhsa01200
Carbon metabolismKEGGko01200
AMPK signaling pathwayKEGGhsa04152
AMPK signaling pathwayKEGGko04152
Central carbon metabolism in cancerKEGGhsa05230
Central carbon metabolism in cancerKEGGko05230
MetabolismREACTOMER-HSA-1430728
Metabolism of carbohydratesREACTOMER-HSA-71387
Glucose metabolismREACTOMER-HSA-70326
GlycolysisREACTOMER-HSA-70171

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
191655272009Prefrontal cortex shotgun proteome analysis reveals altered calcium homeostasis and immune system imbalance in schizophrenia.56
244936302014A genome-wide association study of early-onset breast cancer identifies PFKM as a novel breast cancer gene and supports a common genetic spectrum for breast cancer at any age.35
259851792015Structures of human phosphofructokinase-1 and atomic basis of cancer-associated mutations.29
204836462010Differential expression of phosphofructokinase-1 isoforms correlates with the glycolytic efficiency of breast cancer cells.20
211248512010Evolution of allosteric citrate binding sites on 6-phosphofructo-1-kinase.18
243062102014Expression of phosphofructokinase in skeletal muscle is influenced by genetic variation and associated with insulin sensitivity.14
263374712015The expression pattern of PFKFB3 enzyme distinguishes between induced-pluripotent stem cells and cancer stem cells.14
215731932011Posttranslational modification of 6-phosphofructo-1-kinase as an important feature of cancer metabolism.13
208006032010Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study.12

Citation

Dessen P

PFKM (phosphofructokinase, muscle)

Atlas Genet Cytogenet Oncol Haematol. 2007-04-01

Online version: http://atlasgeneticsoncology.org/gene/47486/pfkm