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
385819172024PKLR mutations in pyruvate kinase deficient Polish patients: Functional characteristics of c.101-1G > A and c.1058delAAG variants.0
385819172024PKLR mutations in pyruvate kinase deficient Polish patients: Functional characteristics of c.101-1G > A and c.1058delAAG variants.0
368925912023Targeted next-generation sequencing identifies eighteen novel mutations expanding the molecular and clinical spectrum of PKLR gene disorders in the Indian population.0
369632892023Targeting PKLR/MYCN/ROMO1 signaling suppresses neuroendocrine differentiation of castration-resistant prostate cancer.5
368925912023Targeted next-generation sequencing identifies eighteen novel mutations expanding the molecular and clinical spectrum of PKLR gene disorders in the Indian population.0
369632892023Targeting PKLR/MYCN/ROMO1 signaling suppresses neuroendocrine differentiation of castration-resistant prostate cancer.5
351686792022A novel homozygous missense variant p.D339N in the PKLR gene correlates with pyruvate kinase deficiency in a Pakistani family: a case report.3
352717082022Genetic variants of PKLR are associated with acute pain in sickle cell disease.6
353065272022Pyruvate kinase L/R links metabolism dysfunction to neuroendocrine differentiation of prostate cancer by ZBTB10 deficiency.6
360389212022Haematological profile of malaria patients with G6PD and PKLR variants (erythrocytic enzymopathies): a cross-sectional study in Thailand.3
365860172022FLI1 accelerates leukemogenesis through transcriptional regulation of pyruvate kinase-L/R and other glycolytic genes.2
351686792022A novel homozygous missense variant p.D339N in the PKLR gene correlates with pyruvate kinase deficiency in a Pakistani family: a case report.3
352717082022Genetic variants of PKLR are associated with acute pain in sickle cell disease.6
353065272022Pyruvate kinase L/R links metabolism dysfunction to neuroendocrine differentiation of prostate cancer by ZBTB10 deficiency.6
360389212022Haematological profile of malaria patients with G6PD and PKLR variants (erythrocytic enzymopathies): a cross-sectional study in Thailand.3

Citation

Dessen P

PKLR (pyruvate kinase L/R)

Atlas Genet Cytogenet Oncol Haematol. 2007-04-01

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