pyruvate kinase L/R

Summary
Gene Symbol
  • PKLR
Organism
Homo sapiens (human)
External Links
NCBI Gene
5313
HGNC
9020
KEGG Gene ID
hsa:5313
PubChem
5313
Alliance of Genome Resources
Annotation
Keyword
  • 3D-structure
  • ATP-binding
  • Allosteric enzyme
  • Alternative splicing
  • Disease variant
  • Glycolysis
  • Hereditary hemolytic anemia
  • Kinase
  • Magnesium
  • Manganese
  • Metal-binding
  • Phosphoprotein
  • Potassium
  • Pyruvate
  • Reference proteome
Proteins
Displaying 1 entry
UniProt Protein Name
P30613
  • Pyruvate kinase 1
  • Pyruvate kinase isozymes L/R
  • R-type/L-type pyruvate kinase
  • Red cell/liver pyruvate kinase
Gene Ontology (GO)
Displaying entries 1 - 5 of 11 in total
GO Term Evidence Code PMID
response to ATP
response to hypoxia
pyruvate biosynthetic process
phosphorylation
response to cAMP
GO Hierarchy
Displaying entries 1 - 5 of 7 in total
GO Term Evidence Code PMID
kinase activity
magnesium ion binding
potassium ion binding
monosaccharide binding
ATP binding
GO Hierarchy
Human Protein Atlas
ENSG00000143627

soft tissue soft tissue blood blood blood blood blood blood blood blood blood blood blood blood blood blood lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node kidney kidney adrenal gland adrenal gland breast breast duodenum stomach small intestine colon rectum appendix esophagus eye eye salivary gland nasopharynx nasopharynx tongue tonsil tonsil tonsil hair skin adipose tissue adipose tissue adipose tissue spinal cord oral mucosa lung lung heart bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus liver pancreas thyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland spleen gallbladder ductus deferens ductus deferens seminal vesicle seminal vesicle seminal vesicle seminal vesicle testis testis epididymis epididymis brain smooth muscle urinary bladder prostate bone marrow skeletal muscle skeletal muscle skeletal muscle skeletal muscle skeletal muscle thymus thymus cartilage sole of foot sole of foot soft tissue blood blood blood blood blood blood blood blood blood blood blood blood lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lactating breast lactating breast kidney kidney adrenal gland adrenal gland duodenum stomach small intestine colon rectum appendix esophagus eye eye salivary gland salivary gland salivary gland salivary gland salivary gland salivary gland nasopharynx tongue tonsil tonsil hair skin adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue spinal cord oral mucosa lung lung heart bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus liver pancreas thyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland spleen gallbladder brain skeletal muscle skeletal muscle skeletal muscle skeletal muscle skeletal muscle thymus thymus smooth muscle urinary bladder vagina ovary ovary fallopian tube fallopian tube endometrium placenta cervix cervix bone marrow cartilage sole of foot sole of foot olfactory region cerebral cortex cerebellum medulla pons midbrain pituitary gland hypothalamus amygdala thalamus choroid plexus choroid plexus corpus callosum basal ganglia substantia nigra dorsal raphe dorsal raphe dorsal raphe dorsal raphe dorsal raphe dorsal raphe caudate hippocampus retina retina

Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.

KEGG BRITE Database
Orthology
K12406
Name
pyruvate kinase isozymes R/L [EC:2.7.1.40]
References
Disease
Disease Ontology
Displaying entries 1 - 10 of 56 in total
DO ID Disease Name Source
DOID:0014667 disease of metabolism
DOID:0050548 hereditary sensory neuropathy
DOID:0060474 familial erythrocytosis 2
DOID:0060652 familial erythrocytosis 1
DOID:0070146 hereditary sensory neuropathy type 4
DOID:0080199 colorectal carcinoma
DOID:0080208 metabolic dysfunction-associated steatotic liver disease
DOID:0090053 episodic kinesigenic dyskinesia 1
DOID:0111077 pyruvate kinase deficiency of red cells
DOID:0111441 optic atrophy 1
The Human Phenotype Ontology
Displaying entries 1 - 10 of 29 in total
HPO ID HPO Term
HP:0000006 Autosomal dominant inheritance
HP:0000007 Autosomal recessive inheritance
HP:0000952 Jaundice
HP:0000980 Pallor
HP:0001081 Cholelithiasis
HP:0001082 Cholecystitis
HP:0001511 Intrauterine growth retardation
HP:0001744 Splenomegaly
HP:0001789 Hydrops fetalis
HP:0001790 Nonimmune hydrops fetalis
Displaying all 3 entries
Disease ID Disease Name
OMIM:102900
  • pyruvate kinase hyperactivity
ORPHA:766
  • pyruvate kinase deficiency of red cells
OMIM:266200
  • pyruvate kinase deficiency of red cells

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Last updated: August 19, 2024