dihydrolipoamide S-acetyltransferase

Summary
Gene Symbol
  • DLAT
Aliases
  • E2
  • E2 component of pyruvate dehydrogenase complex
  • PDC-E2
  • dihydrolipoyllysine-residue acetyltransferase
Organism
Homo sapiens (human)
External Links
NCBI Gene
1737
HGNC
2896
KEGG Gene ID
hsa:1737
PubChem
1737
Alliance of Genome Resources
Annotation
Keyword
  • 3D-structure
  • Acetylation
  • Acyltransferase
  • Glucose metabolism
  • Lipoyl
  • Mitochondrion
  • Phosphoprotein
  • Pyruvate
  • Reference proteome
  • Repeat
  • Transit peptide
  • Tricarboxylic acid cycle
Proteins
Displaying all 2 entries
UniProt Protein Name
Q86YI5
P10515
  • 70 kDa mitochondrial autoantigen of primary biliary cirrhosis
  • Dihydrolipoamide acetyltransferase component of pyruvate dehydrogenase complex
  • M2 antigen complex 70 kDa subunit
  • Pyruvate dehydrogenase complex component E2
Gene Ontology (GO)
GO Hierarchy
Human Protein Atlas
ENSG00000150768

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
K00627
Name
pyruvate dehydrogenase E2 component (dihydrolipoyllysine-residue acetyltransferase) [EC:2.3.1.12]
References
Disease
Disease Ontology
Displaying entries 41 - 50 of 86 in total
DO ID Disease Name Source
DOID:13580 cholestasis
DOID:14040 autoimmune polyendocrine syndrome
DOID:14268 sclerosing cholangitis
DOID:1612 breast cancer
DOID:178 vascular disease
DOID:1837 diabetic ketoacidosis
DOID:2048 autoimmune hepatitis
DOID:2237 hepatitis
DOID:2914 immune system disease
DOID:3393 coronary artery disease
The Human Phenotype Ontology
Displaying entries 1 - 10 of 49 in total
HPO ID HPO Term
HP:0000007 Autosomal recessive inheritance
HP:0000252 Microcephaly
HP:0000486 Strabismus
HP:0000496 Abnormality of eye movement
HP:0000508 Ptosis
HP:0000546 Retinal degeneration
HP:0000639 Nystagmus
HP:0000657 Oculomotor apraxia
HP:0000707 Abnormality of the nervous system
HP:0000708 Atypical behavior
Displaying all 2 entries
Disease ID Disease Name
ORPHA:79244
  • pyruvate dehydrogenase E2 deficiency
OMIM:245348
  • pyruvate dehydrogenase E2 deficiency
LIPID MAPS Gene / Proteome Database
LMPD ID
LMP002413
Gene Name
dihydrolipoamide S-acetyltransferase

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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