PKLR (pyruvate kinase L/R)

2007-04-01  

Identity

HGNC
PKLR
LOCATION
1q22
LOCUSID
5313
ALIAS
PK1,PKL,PKRL,RPK
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 5313
MIM: 609712
HGNC: 9020
Ensembl: ENSG00000143627

Variants:

dbSNP: 5313
ClinVar: 5313
TCGA: ENSG00000143627
COSMIC: PKLR

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000143627ENST00000342741P30613
ENSG00000143627ENST00000392414P30613
ENSG00000143627ENST00000434082F8W6W2

Expression (GTEx)

0
5
10
15
20
25
30
35
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
Glycolysis / GluconeogenesisKEGGko00010
Purine metabolismKEGGko00230
Pyruvate metabolismKEGGko00620
Insulin signaling pathwayKEGGko04910
Type II diabetes mellitusKEGGko04930
Maturity onset diabetes of the youngKEGGko04950
Glycolysis / GluconeogenesisKEGGhsa00010
Purine metabolismKEGGhsa00230
Pyruvate metabolismKEGGhsa00620
Insulin signaling pathwayKEGGhsa04910
Type II diabetes mellitusKEGGhsa04930
Maturity onset diabetes of the youngKEGGhsa04950
Metabolic pathwaysKEGGhsa01100
Glycolysis (Embden-Meyerhof pathway), glucose => pyruvateKEGGhsa_M00001
Glycolysis, core module involving three-carbon compoundsKEGGhsa_M00002
Glycolysis (Embden-Meyerhof pathway), glucose => pyruvateKEGGM00001
Glycolysis, core module involving three-carbon compoundsKEGGM00002
Adenine ribonucleotide biosynthesis, IMP => ADP,ATPKEGGM00049
Guanine ribonucleotide biosynthesis IMP => GDP,GTPKEGGM00050
Adenine ribonucleotide biosynthesis, IMP => ADP,ATPKEGGhsa_M00049
Guanine ribonucleotide biosynthesis IMP => GDP,GTPKEGGhsa_M00050
Biosynthesis of amino acidsKEGGhsa01230
Biosynthesis of amino acidsKEGGko01230
Carbon metabolismKEGGhsa01200
Carbon metabolismKEGGko01200
Non-alcoholic fatty liver disease (NAFLD)KEGGhsa04932
Non-alcoholic fatty liver disease (NAFLD)KEGGko04932
MetabolismREACTOMER-HSA-1430728
Metabolism of carbohydratesREACTOMER-HSA-71387
Glucose metabolismREACTOMER-HSA-70326
GlycolysisREACTOMER-HSA-70171
Integration of energy metabolismREACTOMER-HSA-163685
ChREBP activates metabolic gene expressionREACTOMER-HSA-163765
Developmental BiologyREACTOMER-HSA-1266738
Regulation of beta-cell developmentREACTOMER-HSA-186712
Regulation of gene expression in beta cellsREACTOMER-HSA-210745

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
217002192011Acetylation targets the M2 isoform of pyruvate kinase for degradation through chaperone-mediated autophagy and promotes tumor growth.186
206826872010Common variants in 40 genes assessed for diabetes incidence and response to metformin and lifestyle intervention in the diabetes prevention program.88
209781942010Turning on a fuel switch of cancer: hnRNP proteins regulate alternative splicing of pyruvate kinase mRNA.70
119609892002Structure and function of human erythrocyte pyruvate kinase. Molecular basis of nonspherocytic hemolytic anemia.39
184204932008Pyruvate kinase deficiency and malaria.30
256293962015Distinguishing the interactions in the fructose 1,6-bisphosphate binding site of human liver pyruvate kinase that contribute to allostery.20
193725492009A proteomic approach links decreased pyruvate kinase M2 expression to oxaliplatin resistance in patients with colorectal cancer and in human cell lines.19
196551662010Glycolytic phenotype in breast cancer: activation of Akt, up-regulation of GLUT1, TKTL1 and down-regulation of M2PK.19
267845452016PKLR promotes colorectal cancer liver colonization through induction of glutathione synthesis.17
173600882007Pyruvate kinase deficiency: the genotype-phenotype association.16

Citation

Dessen P

PKLR (pyruvate kinase L/R)

Atlas Genet Cytogenet Oncol Haematol. 2007-04-01

Online version: http://atlasgeneticsoncology.org/gene/47322/pklr