pyruvate dehydrogenase complex component X

Summary
Gene Symbol
  • PDHX
Aliases
  • DLDBP
  • E3BP
  • OPDX
  • PDX1
  • proX
Organism
Homo sapiens (human)
External Links
NCBI Gene
8050
HGNC
21350
KEGG Gene ID
hsa:8050
PubChem
8050
Alliance of Genome Resources
Annotation
Keyword
  • 3D-structure
  • Acetylation
  • Acyltransferase
  • Alternative splicing
  • Lipoyl
  • Mitochondrion
  • Phosphoprotein
  • Proteomics identification
  • Reference proteome
  • Transit peptide
Proteins
Displaying all 2 entries
UniProt Protein Name
A0A8C8MSB2
O00330
  • Dihydrolipoamide dehydrogenase-binding protein of pyruvate dehydrogenase complex
  • E3-binding protein
  • Lipoyl-containing pyruvate dehydrogenase complex component X
  • proX
Gene Ontology (GO)
Displaying 1 entry
GO Term Evidence Code PMID
acetyl-CoA biosynthetic process from pyruvate
GO Hierarchy
Human Protein Atlas
ENSG00000110435

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
K13997
Name
dihydrolipoamide dehydrogenase-binding protein of pyruvate dehydrogenase complex
References
Disease
Disease Ontology
Displaying entries 31 - 40 of 89 in total
DO ID Disease Name Source
DOID:0111103 maturity-onset diabetes of the young type 4
DOID:1059 intellectual disability
DOID:10629 microphthalmia
DOID:10907 microcephaly
DOID:1115 sarcoma
DOID:11717 neonatal diabetes
DOID:11832 visual epilepsy
DOID:12236 primary biliary cholangitis
DOID:12697 locked-in syndrome
DOID:12835 quadriplegia
The Human Phenotype Ontology
Displaying entries 31 - 40 of 46 in total
HPO ID HPO Term
HP:0002363 Abnormal brainstem morphology
HP:0002416 Subependymal cysts
HP:0002490 Increased CSF lactate
HP:0002510 Spastic tetraplegia
HP:0002928 Decreased activity of the pyruvate dehydrogenase complex
HP:0003128 Lactic acidosis
HP:0003348 Hyperalaninemia
HP:0003542 Increased serum pyruvate
HP:0003577 Congenital onset
HP:0003828 Variable expressivity
Displaying all 2 entries
Disease ID Disease Name
ORPHA:255182
  • pyruvate dehydrogenase E3-binding protein deficiency
OMIM:245349
  • pyruvate dehydrogenase E3-binding protein deficiency
LIPID MAPS Gene / Proteome Database
LMPD ID
LMP000701
Gene Name
pyruvate dehydrogenase complex, component X

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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