pyruvate dehydrogenase E1 subunit beta

Summary
Gene Symbol
  • PDHB
Aliases
  • E1beta
  • PDHE1B
Organism
Homo sapiens (human)
External Links
NCBI Gene
5162
HGNC
8808
KEGG Gene ID
hsa:5162
PubChem
5162
Alliance of Genome Resources
Annotation
Keyword
  • 3D-structure
  • Acetylation
  • Alternative splicing
  • Direct protein sequencing
  • Disease variant
  • Glucose metabolism
  • Mitochondrion
  • Oxidoreductase
  • Phosphoprotein
  • Pyruvate
  • Reference proteome
  • Thiamine pyrophosphate
  • Transit peptide
  • Tricarboxylic acid cycle
Proteins
Displaying all 2 entries
UniProt Protein Name
A0A384MDR8
P11177
Gene Ontology (GO)
GO Hierarchy
Human Protein Atlas
ENSG00000168291

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
K00162
Name
pyruvate dehydrogenase E1 component subunit beta [EC:1.2.4.1]
References
Disease
Disease Ontology
Displaying entries 1 - 10 of 25 in total
DO ID Disease Name Source
DOID:0050387 nonpapillary renal cell carcinoma
DOID:0060548 luminal breast carcinoma A
DOID:11847 coronary thrombosis
DOID:1612 breast cancer
DOID:1909 melanoma
DOID:3112 papillary adenocarcinoma
DOID:3459 breast carcinoma
DOID:3649 pyruvate decarboxylase deficiency
DOID:3650 lactic acidosis
DOID:3651 pyruvate carboxylase deficiency disease
The Human Phenotype Ontology
Displaying entries 1 - 10 of 28 in total
HPO ID HPO Term
HP:0000007 Autosomal recessive inheritance
HP:0001250 Seizure
HP:0001251 Ataxia
HP:0001252 Hypotonia
HP:0001263 Global developmental delay
HP:0001265 Hyporeflexia
HP:0001274 Agenesis of corpus callosum
HP:0001290 Generalized hypotonia
HP:0001302 Pachygyria
HP:0001315 Reduced tendon reflexes
Displaying all 2 entries
Disease ID Disease Name
OMIM:614111
  • pyruvate dehydrogenase E1-beta deficiency
ORPHA:255138
  • pyruvate dehydrogenase E1-beta deficiency
LIPID MAPS Gene / Proteome Database
LMPD ID
LMP005062
Gene Name
pyruvate dehydrogenase (lipoamide) beta

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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