pyruvate carboxylase

Summary
Gene Symbol
  • PC
Aliases
  • PCB
Organism
Homo sapiens (human)
NCBI Gene
5091
HGNC
8636
KEGG Gene ID
hsa:5091
PubChem
5091
Alliance of Genome Resources
Annotation
Keyword
  • 3D-structure
  • ATP-binding
  • Acetylation
  • Alternative splicing
  • Biotin
  • Disease variant
  • Gluconeogenesis
  • Ligase
  • Lipid biosynthesis
  • Manganese
  • Metal-binding
  • Mitochondrion
  • Multifunctional enzyme
  • Phosphoprotein
  • Pyruvate
  • Reference proteome
  • Transit peptide
Proteins
Displaying 1 entry
UniProt Protein Name
P11498
  • Pyruvic carboxylase
Gene Ontology (GO)
GO Hierarchy
Displaying entry 6 - 6 of 6 in total
GO Term Evidence Code PMID
ATP binding
GO Hierarchy
OrthoDB (Group)
Group level
Eukaryota
Group Name
carboxylase
Functional Category
  • C: Energy production and conversion
  • E: Amino acid transport and metabolism
  • I: Lipid transport and metabolism
  • Q: Secondary metabolites biosynthesis, transport and catabolism
Human Protein Atlas
ENSG00000173599

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.

Disease
The Human Phenotype Ontology
Displaying entries 11 - 19 of 19 in total
HPO ID HPO Term
HP:0002305 Athetosis
HP:0002415 Leukodystrophy
HP:0003128 Lactic acidosis
HP:0003348 Hyperalaninemia
HP:0003542 Increased serum pyruvate
HP:0003577 Congenital onset
HP:0003593 Infantile onset
HP:0006970 Periventricular leukomalacia
HP:0007190 Neuronal loss in the cerebral cortex
Displaying 1 entry
Disease ID Disease Name
OMIM:266150
  • pyruvate carboxylase deficiency disease

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Acknowledgements

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Last updated: December 9, 2024