PDHA1 (pyruvate dehydrogenase E1 subunit alpha 1)

2007-04-01  

Identity

HGNC
PDHA1
LOCATION
Xp22.12
LOCUSID
5160
ALIAS
PDHA,PDHAD,PDHCE1A,PHE1A
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

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

Variants:

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

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000131828ENST00000355808Q5JPT9
ENSG00000131828ENST00000379804Q5JPU3
ENSG00000131828ENST00000379805Q5JPU0
ENSG00000131828ENST00000379806P08559
ENSG00000131828ENST00000417819Q5JPU2
ENSG00000131828ENST00000422285P08559
ENSG00000131828ENST00000422285A0A024RBX9
ENSG00000131828ENST00000423505Q5JPU1
ENSG00000131828ENST00000540249P08559
ENSG00000131828ENST00000545074P08559

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
Glycolysis / GluconeogenesisKEGGko00010
Citrate cycle (TCA cycle)KEGGko00020
Pyruvate metabolismKEGGko00620
Glycolysis / GluconeogenesisKEGGhsa00010
Citrate cycle (TCA cycle)KEGGhsa00020
Pyruvate metabolismKEGGhsa00620
Metabolic pathwaysKEGGhsa01100
Pyruvate oxidation, pyruvate => acetyl-CoAKEGGhsa_M00307
Pyruvate oxidation, pyruvate => acetyl-CoAKEGGM00307
HIF-1 signaling pathwayKEGGhsa04066
Carbon metabolismKEGGhsa01200
Carbon metabolismKEGGko01200
Central carbon metabolism in cancerKEGGhsa05230
Central carbon metabolism in cancerKEGGko05230
Glucagon signaling pathwayKEGGhsa04922
Glucagon signaling pathwayKEGGko04922
Signal TransductionREACTOMER-HSA-162582
Signaling by Retinoic AcidREACTOMER-HSA-5362517
MetabolismREACTOMER-HSA-1430728
The citric acid (TCA) cycle and respiratory electron transportREACTOMER-HSA-1428517
Pyruvate metabolism and Citric Acid (TCA) cycleREACTOMER-HSA-71406
Pyruvate metabolismREACTOMER-HSA-70268
Regulation of pyruvate dehydrogenase (PDH) complexREACTOMER-HSA-204174
Metabolism of amino acids and derivativesREACTOMER-HSA-71291
Glyoxylate metabolism and glycine degradationREACTOMER-HSA-389661

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
374796902023PDHA1 hyperacetylation-mediated lactate overproduction promotes sepsis-induced acute kidney injury via Fis1 lactylation.12
374796902023PDHA1 hyperacetylation-mediated lactate overproduction promotes sepsis-induced acute kidney injury via Fis1 lactylation.12
351325352022Pyruvate Dehydrogenase Complex Deficiency Due to PDHA1 Mutation-A Rare Treatable Cause for Episodic Ataxia in Children.1
353154372022MAPK signalling-induced phosphorylation and subcellular translocation of PDHE1α promotes tumour immune evasion.12
357315792022T Cells Mediate Kidney Tubular Injury via Impaired PDHA1 and Autophagy in Type 1 Diabetes.3
351325352022Pyruvate Dehydrogenase Complex Deficiency Due to PDHA1 Mutation-A Rare Treatable Cause for Episodic Ataxia in Children.1
353154372022MAPK signalling-induced phosphorylation and subcellular translocation of PDHE1α promotes tumour immune evasion.12
357315792022T Cells Mediate Kidney Tubular Injury via Impaired PDHA1 and Autophagy in Type 1 Diabetes.3
335923562021Novel presentations associated with a PDHA1 variant - Alternating hemiplegia in Hemizygote proband and Guillain Barre Syndrome in Heterozygote mother.2
343848302021Differential expression of pyruvate dehydrogenase E1A and its inactive phosphorylated form among breast cancer subtypes.1
335923562021Novel presentations associated with a PDHA1 variant - Alternating hemiplegia in Hemizygote proband and Guillain Barre Syndrome in Heterozygote mother.2
343848302021Differential expression of pyruvate dehydrogenase E1A and its inactive phosphorylated form among breast cancer subtypes.1
330222742020Phosphorylation of PDHA by AMPK Drives TCA Cycle to Promote Cancer Metastasis.78
330222742020Phosphorylation of PDHA by AMPK Drives TCA Cycle to Promote Cancer Metastasis.78
294447442019Overexpression of Pyruvate Dehydrogenase E1α Subunit Inhibits Warburg Effect and Induces Cell Apoptosis Through Mitochondria-Mediated Pathway in Hepatocellular Carcinoma.28

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-(pyruvate-dehydrogenase-e1-subunit-alpha-1)