PC (pyruvate carboxylase)

2015-04-01  

Identity

HGNC
PC
LOCATION
11q13.2
LOCUSID
5091
ALIAS
PCB
FUSION GENES
Show Gene Fusions

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
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
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
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
380862192024Leat-associated seizures the possible role of EAAT2, pyruvate carboxylase and glutamine synthetase.0
380862192024Leat-associated seizures the possible role of EAAT2, pyruvate carboxylase and glutamine synthetase.0
378737282023In silico Analysis of Two Novel Variants in the Pyruvate Carboxylase (PC) Gene Associated with the Severe Form of PC Deficiency.1
378737282023In silico Analysis of Two Novel Variants in the Pyruvate Carboxylase (PC) Gene Associated with the Severe Form of PC Deficiency.1
346325332022Protective effects of all-trans retinoic acid against gastric premalignant lesions by repressing exosomal LncHOXA10-pyruvate carboxylase axis.1
359070542022The ubiquitous expression of pyruvate carboxylase among human prostate tumors.1
346325332022Protective effects of all-trans retinoic acid against gastric premalignant lesions by repressing exosomal LncHOXA10-pyruvate carboxylase axis.1
359070542022The ubiquitous expression of pyruvate carboxylase among human prostate tumors.1
334353502021Rethinking the Citric Acid Cycle: Connecting Pyruvate Carboxylase and Citrate Synthase to the Flow of Energy and Material.14
338809992021Expression of pyruvate carboxylase in cultured human astrocytoma, glioblastoma and neuroblastoma cells.4
342459782021Pyruvate carboxylase supports basal ATP-linked respiration in human pluripotent stem cell-derived brown adipocytes.1
347644572021Fibroblast pyruvate carboxylase is required for collagen production in the tumour microenvironment.15
334353502021Rethinking the Citric Acid Cycle: Connecting Pyruvate Carboxylase and Citrate Synthase to the Flow of Energy and Material.14
338809992021Expression of pyruvate carboxylase in cultured human astrocytoma, glioblastoma and neuroblastoma cells.4
342459782021Pyruvate carboxylase supports basal ATP-linked respiration in human pluripotent stem cell-derived brown adipocytes.1

Citation

Dessen P

PC (pyruvate carboxylase)

Atlas Genet Cytogenet Oncol Haematol. 2015-04-01

Online version: http://atlasgeneticsoncology.org/gene/55165