PC (pyruvate carboxylase)

2015-04-01  

Identity

HGNC
LOCATION
11q13.2
LOCUSID
ALIAS
PCB
FUSION GENES

Other Information

Locus ID:

NCBI: 5091
MIM: 608786
HGNC: 8636
Ensembl: ENSG00000173599

Variants:

dbSNP: 5091
ClinVar: 5091
TCGA: ENSG00000173599
COSMIC: PC

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000173599ENST00000393955P11498
ENSG00000173599ENST00000393955A0A024R5C5
ENSG00000173599ENST00000393958P11498
ENSG00000173599ENST00000393958A0A024R5C5
ENSG00000173599ENST00000393960P11498
ENSG00000173599ENST00000393960A0A024R5C5
ENSG00000173599ENST00000524491P11498
ENSG00000173599ENST00000528224A0A494C016
ENSG00000173599ENST00000528403A0A494C101
ENSG00000173599ENST00000529047P11498
ENSG00000173599ENST00000529047A0A024R5C5
ENSG00000173599ENST00000531614A0A494BZT5
ENSG00000173599ENST00000628663E9PRE7
ENSG00000173599ENST00000651036P11498
ENSG00000173599ENST00000651036A0A024R5C5
ENSG00000173599ENST00000651469A0A494C0T2
ENSG00000173599ENST00000651854P11498
ENSG00000173599ENST00000651854A0A024R5C5
ENSG00000173599ENST00000652125P11498
ENSG00000173599ENST00000652125A0A024R5C5

Expression (GTEx)

0
50
100
150

Pathways

PathwaySourceExternal ID
Citrate cycle (TCA cycle)KEGGko00020
Pyruvate metabolismKEGGko00620
Citrate cycle (TCA cycle)KEGGhsa00020
Pyruvate metabolismKEGGhsa00620
Metabolic pathwaysKEGGhsa01100
Biosynthesis of amino acidsKEGGhsa01230
Biosynthesis of amino acidsKEGGko01230
Carbon metabolismKEGGhsa01200
Carbon metabolismKEGGko01200
DiseaseREACTOMER-HSA-1643685
Diseases of metabolismREACTOMER-HSA-5668914
Defects in vitamin and cofactor metabolismREACTOMER-HSA-3296482
Defects in biotin (Btn) metabolismREACTOMER-HSA-3323169
Defective HLCS causes multiple carboxylase deficiencyREACTOMER-HSA-3371599
MetabolismREACTOMER-HSA-1430728
Metabolism of carbohydratesREACTOMER-HSA-71387
Glucose metabolismREACTOMER-HSA-70326
GluconeogenesisREACTOMER-HSA-70263
Metabolism of vitamins and cofactorsREACTOMER-HSA-196854
Metabolism of water-soluble vitamins and cofactorsREACTOMER-HSA-196849
Biotin transport and metabolismREACTOMER-HSA-196780

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
256078402015Pyruvate carboxylase is critical for non-small-cell lung cancer proliferation.160
277328582016Breast Cancer-Derived Lung Metastases Show Increased Pyruvate Carboxylase-Dependent Anaplerosis.49
182970872008Crystal structures of human and Staphylococcus aureus pyruvate carboxylase and molecular insights into the carboxyltransfer reaction.46
192960782009Decreased levels of metabolic enzymes in pancreatic islets of patients with type 2 diabetes.42
252439112014Glioma cells with the IDH1 mutation modulate metabolic fractional flux through pyruvate carboxylase.26
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.17
193063342009Structural insights on pathogenic effects of novel mutations causing pyruvate carboxylase deficiency.8
121126572002Intron retention and frameshift mutations result in severe pyruvate carboxylase deficiency in two male siblings.6
233830842013Characterization of the distal promoter of the human pyruvate carboxylase gene in pancreatic beta cells.6
269065582016Pyruvate Carboxylase Activates the RIG-I-like Receptor-Mediated Antiviral Immune Response by Targeting the MAVS signalosome.5

Citation

Dessen P

PC (pyruvate carboxylase)

Atlas Genet Cytogenet Oncol Haematol. 2015-04-01

Online version: http://atlasgeneticsoncology.org/gene/55165/pc-(pyruvate-carboxylase)