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FLASH GENE

Symbol

PC

contributors: mct - updated : 18-05-2011

HGNC name	pyruvate carboxylase
HGNC id	8636

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

EXPRESSION

Rna function	the highest level of PC mRNA is found in liver corresponding to this tissue high level of PC activity
Type	widely

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Cardiovascular heart       highly Homo sapiens Digestive liver       highly Homo sapiens Nervous brain       highly Homo sapiens Urinary kidney       highly Homo sapiens

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Muscular striatum skeletal   highly Homo sapiens

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	four domains, namely, biotin carboxylase (BC), carboxyltransferase (CT), pyruvate carboxylase tetramerization (PT), and biotin carboxyl carrier protein (BCCP)
	homotetramer with each subunit containing the three functional domains BC, CT and BCCP (PMID

mono polymer

homomer , tetramer

HOMOLOGY

Homologene

FAMILY

CATEGORY

enzyme

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,mitochondria,inner
	intracellular,cytoplasm,organelle,mitochondria,matrix
	intracellular,cytoplasm,organelle,membrane

basic FUNCTION	nuclear-encoded mitochondrial enzyme, catalyzing the conversion of pyruvate to oxaloacetate
	biotin-containing enzyme that catalyses the HCO(3)(-)- and MgATP-dependent carboxylation of pyruvate to form oxaloacetate
	crucial for intermediary metabolism, controlling fuel partitioning toward gluconeogenesis or lipogenesis and in insulin secretion
	mitochondrial enzyme that serves to supply the citric acid cycle with oxaloacetate by carboxylation of pyruvate (PMID
	nuclear encoded protein which is actively transported into the mitochondria, and found in isolated mitochondria from human myotubes (PMID

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule	cofactor,
	a biotin covalently attached as cofactor

protein

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

PCDLA

related resource

MITOP database

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional     --low   in pancreatic islets of patients with type 2 diabetes

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS