PDHA1 (pyruvate dehydrogenase E1 subunit alpha 1)

2007-04-01 Affiliation

Identity

HGNC

PDHA1

LOCATION

Xp22.12

LOCUSID

5160

ALIAS

PDHA,PDHAD,PDHCE1A,PHE1A

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 5160
MIM: 300502
HGNC: 8806
Ensembl: ENSG00000131828

Variants:

dbSNP: 5160
ClinVar: 5160
TCGA: ENSG00000131828
COSMIC: PDHA1

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000131828	ENST00000355808	Q5JPT9
ENSG00000131828	ENST00000379804	Q5JPU3
ENSG00000131828	ENST00000379805	Q5JPU0
ENSG00000131828	ENST00000379806	P08559
ENSG00000131828	ENST00000417819	Q5JPU2
ENSG00000131828	ENST00000422285	P08559
ENSG00000131828	ENST00000422285	A0A024RBX9
ENSG00000131828	ENST00000423505	Q5JPU1
ENSG00000131828	ENST00000540249	P08559
ENSG00000131828	ENST00000545074	P08559

Expression (GTEx)

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

Pathway	Source	External ID
Glycolysis / Gluconeogenesis	KEGG	ko00010
Citrate cycle (TCA cycle)	KEGG	ko00020
Pyruvate metabolism	KEGG	ko00620
Glycolysis / Gluconeogenesis	KEGG	hsa00010
Citrate cycle (TCA cycle)	KEGG	hsa00020
Pyruvate metabolism	KEGG	hsa00620
Metabolic pathways	KEGG	hsa01100
Pyruvate oxidation, pyruvate => acetyl-CoA	KEGG	hsa_M00307
Pyruvate oxidation, pyruvate => acetyl-CoA	KEGG	M00307
HIF-1 signaling pathway	KEGG	hsa04066
Carbon metabolism	KEGG	hsa01200
Carbon metabolism	KEGG	ko01200
Central carbon metabolism in cancer	KEGG	hsa05230
Central carbon metabolism in cancer	KEGG	ko05230
Glucagon signaling pathway	KEGG	hsa04922
Glucagon signaling pathway	KEGG	ko04922
Signal Transduction	REACTOME	R-HSA-162582
Signaling by Retinoic Acid	REACTOME	R-HSA-5362517
Metabolism	REACTOME	R-HSA-1430728
The citric acid (TCA) cycle and respiratory electron transport	REACTOME	R-HSA-1428517
Pyruvate metabolism and Citric Acid (TCA) cycle	REACTOME	R-HSA-71406
Pyruvate metabolism	REACTOME	R-HSA-70268
Regulation of pyruvate dehydrogenase (PDH) complex	REACTOME	R-HSA-204174
Metabolism of amino acids and derivatives	REACTOME	R-HSA-71291
Glyoxylate metabolism and glycine degradation	REACTOME	R-HSA-389661

Protein levels (Protein atlas)

Not detected

Low

Medium

High

References

Pubmed ID	Year	Title	Citations
21852536	2011	Erk regulation of pyruvate dehydrogenase flux through PDK4 modulates cell proliferation.	65
14638692	2004	Organization of the cores of the mammalian pyruvate dehydrogenase complex formed by E2 and E2 plus the E3-binding protein and their capacities to bind the E1 and E3 components.	35
17065338	2006	PDH-E1alpha dephosphorylation and activation in human skeletal muscle during exercise: effect of intralipid infusion.	33
21914562	2011	Molecular characterization of 82 patients with pyruvate dehydrogenase complex deficiency. Structural implications of novel amino acid substitutions in E1 protein.	25
19586787	2009	AAV3-mediated transfer and expression of the pyruvate dehydrogenase E1 alpha subunit gene causes metabolic remodeling and apoptosis of human liver cancer cells.	22
21809123	2011	Pyruvate dehydrogenase inhibition by the inflammatory cytokine TNFα contributes to the pathogenesis of pulmonary arterial hypertension.	20
25104357	2014	Tyr-301 phosphorylation inhibits pyruvate dehydrogenase by blocking substrate binding and promotes the Warburg effect.	18
27474170	2016	Metformin increases PDH and suppresses HIF-1α under hypoxic conditions and induces cell death in oral squamous cell carcinoma.	18
29335542	2018	Compartmentalized activities of the pyruvate dehydrogenase complex sustain lipogenesis in prostate cancer.	15
26309161	2015	The oncoprotein HBXIP promotes glucose metabolism reprogramming via downregulating SCO2 and PDHA1 in breast cancer.	13

Citation

Dessen P

PDHA1 (pyruvate dehydrogenase E1 subunit alpha 1)

Atlas Genet Cytogenet Oncol Haematol. 2007-04-01

Online version: http://atlasgeneticsoncology.org/gene/46942/pdha1