PFKFB1 (6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1)

2014-11-01  

Identity

HGNC
PFKFB1
LOCATION
Xp11.21
LOCUSID
5207
ALIAS
F6PK,HL2K,PFRX

Other Information

Locus ID:

NCBI: 5207
MIM: 311790
HGNC: 8872
Ensembl: ENSG00000158571

Variants:

dbSNP: 5207
ClinVar: 5207
TCGA: ENSG00000158571
COSMIC: PFKFB1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000158571ENST00000374992Q4VBA9
ENSG00000158571ENST00000375006P16118
ENSG00000158571ENST00000545676P16118
ENSG00000158571ENST00000614686I1Z9G3

Expression (GTEx)

0
5
10
15
20
25
30
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Fructose and mannose metabolismKEGGko00051
Fructose and mannose metabolismKEGGhsa00051
AMPK signaling pathwayKEGGhsa04152
AMPK signaling pathwayKEGGko04152
Glucagon signaling pathwayKEGGhsa04922
Glucagon signaling pathwayKEGGko04922
MetabolismREACTOMER-HSA-1430728
Metabolism of carbohydratesREACTOMER-HSA-71387
Glucose metabolismREACTOMER-HSA-70326
GlycolysisREACTOMER-HSA-70171
GluconeogenesisREACTOMER-HSA-70263
Integration of energy metabolismREACTOMER-HSA-163685
PKA-mediated phosphorylation of key metabolic factorsREACTOMER-HSA-163358
PP2A-mediated dephosphorylation of key metabolic factorsREACTOMER-HSA-163767

References

Pubmed IDYearTitleCitations
123796462003Tissue-specific structure/function differentiation of the liver isoform of 6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase.6
194744522009Perioperative genomic profiles using structure-specific oligonucleotide probes.0
268274422015[EXPRESSION OF GENES, WHICH CONTROL GLUCOSE METABOLISM, IN BLOOD CELLS OF THE OBESE BOYS WITH INSULIN RESISTANCE].0

Citation

Dessen P

PFKFB1 (6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/71847/pfkfb1