pyruvate dehydrogenase E1 subunit alpha 1

Summary
Gene Symbol
  • PDHA1
Aliases
  • E1alpha
  • pyruvate dehydrogenase E1 component subunit alpha, somatic form, mitochondrial
Organism
Homo sapiens (human)
External Links
NCBI Gene
5160
HGNC
8806
KEGG Gene ID
hsa:5160
PubChem
5160
Alliance of Genome Resources
Annotation
Keyword
  • 3D-structure
  • Acetylation
  • Alternative splicing
  • Direct protein sequencing
  • Disease variant
  • Glucose metabolism
  • Leigh syndrome
  • Mitochondrion
  • Oxidoreductase
  • Phosphoprotein
  • Pyruvate
  • Reference proteome
  • Thiamine pyrophosphate
  • Transit peptide
  • Tricarboxylic acid cycle
Proteins
Displaying 1 entry
UniProt Protein Name
P08559
  • PDHE1-A type I
Gene Ontology (GO)
GO Hierarchy
Human Protein Atlas
ENSG00000131828

soft tissue soft tissue blood blood blood blood blood blood blood blood blood blood blood blood blood blood lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node kidney kidney adrenal gland adrenal gland breast breast duodenum stomach small intestine colon rectum appendix esophagus eye eye salivary gland nasopharynx nasopharynx tongue tonsil tonsil tonsil hair skin adipose tissue adipose tissue adipose tissue spinal cord oral mucosa lung lung heart bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus liver pancreas thyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland spleen gallbladder ductus deferens ductus deferens seminal vesicle seminal vesicle seminal vesicle seminal vesicle testis testis epididymis epididymis brain smooth muscle urinary bladder prostate bone marrow skeletal muscle skeletal muscle skeletal muscle skeletal muscle skeletal muscle thymus thymus cartilage sole of foot sole of foot soft tissue blood blood blood blood blood blood blood blood blood blood blood blood lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lactating breast lactating breast kidney kidney adrenal gland adrenal gland duodenum stomach small intestine colon rectum appendix esophagus eye eye salivary gland salivary gland salivary gland salivary gland salivary gland salivary gland nasopharynx tongue tonsil tonsil hair skin adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue spinal cord oral mucosa lung lung heart bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus liver pancreas thyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland spleen gallbladder brain skeletal muscle skeletal muscle skeletal muscle skeletal muscle skeletal muscle thymus thymus smooth muscle urinary bladder vagina ovary ovary fallopian tube fallopian tube endometrium placenta cervix cervix bone marrow cartilage sole of foot sole of foot olfactory region cerebral cortex cerebellum medulla pons midbrain pituitary gland hypothalamus amygdala thalamus choroid plexus choroid plexus corpus callosum basal ganglia substantia nigra dorsal raphe dorsal raphe dorsal raphe dorsal raphe dorsal raphe dorsal raphe caudate hippocampus retina retina

Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.

KEGG BRITE Database
Orthology
K00161
Name
pyruvate dehydrogenase E1 component subunit alpha [EC:1.2.4.1]
References
Disease
Disease Ontology
Displaying entries 91 - 95 of 95 in total
DO ID Disease Name Source
DOID:963 episodic ataxia
DOID:9649 congenital nystagmus
DOID:9650 pathologic nystagmus
DOID:9837 hypertropia
DOID:9854 lingual-facial-buccal dyskinesia
The Human Phenotype Ontology
Displaying entries 41 - 50 of 76 in total
HPO ID HPO Term
HP:0002131 Episodic ataxia
HP:0002151 Increased circulating lactate concentration
HP:0002171 Gliosis
HP:0002187 Intellectual disability, profound
HP:0002329 Drowsiness
HP:0002350 Cerebellar cyst
HP:0002490 Increased CSF lactate
HP:0002521 Hypsarrhythmia
HP:0002540 Inability to walk
HP:0002643 Neonatal respiratory distress
Displaying all 2 entries
Disease ID Disease Name
OMIM:312170
  • pyruvate dehydrogenase E1-alpha deficiency
ORPHA:79243
  • pyruvate dehydrogenase E1-alpha deficiency

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024