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 1 - 10 of 86 in total
DO ID Disease Name Source
DOID:0050167 autoimmune polyendocrine syndrome type 1
DOID:0050841 focal hand dystonia
DOID:0060216 Cogan syndrome
DOID:0060260 ptosis
DOID:0060261 congenital ptosis
DOID:0060262 gallbladder disease
DOID:0060643 primary sclerosing cholangitis
DOID:0110741 type 1 diabetes mellitus 2
DOID:0110742 type 1 diabetes mellitus 3
DOID:0110743 type 1 diabetes mellitus 4
The Human Phenotype Ontology
Displaying entries 21 - 30 of 49 in total
HPO ID HPO Term
HP:0001288 Gait disturbance
HP:0001319 Neonatal hypotonia
HP:0001332 Dystonia
HP:0001347 Hyperreflexia
HP:0001348 Brisk reflexes
HP:0002136 Broad-based gait
HP:0002180 Neurodegeneration
HP:0002194 Delayed gross motor development
HP:0002268 Paroxysmal dystonia
HP:0002307 Drooling
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