acetyl-CoA acetyltransferase 1

Summary
Gene Symbol
  • ACAT1
Aliases
  • THIL
  • acetoacetyl Coenzyme A thiolase
Organism
Homo sapiens (human)
External Links
NCBI Gene
38
HGNC
93
KEGG Gene ID
hsa:38
PubChem
38
Alliance of Genome Resources
Annotation
Keyword
  • 3D-structure
  • Acetylation
  • Acyltransferase
  • Alternative splicing
  • Direct protein sequencing
  • Disease variant
  • Fatty acid metabolism
  • Metal-binding
  • Mitochondrion
  • Potassium
  • Reference proteome
  • Transit peptide
Proteins
Displaying all 2 entries
UniProt Protein Name
A0A140VJX1
P24752
  • Acetoacetyl-CoA thiolase
  • T2
Gene Ontology (GO)
GO Hierarchy
GO Hierarchy
Human Protein Atlas
ENSG00000075239

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.

Disease
Disease Ontology
Displaying entries 31 - 40 of 147 in total
DO ID Disease Name Source
DOID:10140 dry eye syndrome
DOID:10283 prostate cancer
DOID:10286 prostate carcinoma
DOID:10371 yaws
DOID:1059 intellectual disability
DOID:10652 Alzheimer's disease
DOID:10763 hypertension
DOID:10825 essential hypertension
DOID:10871 age related macular degeneration
DOID:10966 lipoid nephrosis
The Human Phenotype Ontology
Displaying entries 1 - 10 of 44 in total
HPO ID HPO Term
HP:0000007 Autosomal recessive inheritance
HP:0000713 Agitation
HP:0000741 Apathy
HP:0000822 Hypertension
HP:0000969 Edema
HP:0000980 Pallor
HP:0001249 Intellectual disability
HP:0001250 Seizure
HP:0001251 Ataxia
HP:0001252 Hypotonia
Displaying all 2 entries
Disease ID Disease Name
ORPHA:134
  • beta-ketothiolase deficiency
OMIM:203750
  • beta-ketothiolase deficiency
LIPID MAPS Gene / Proteome Database
LMPD ID
LMP000040
Gene Name
acetyl-CoA acetyltransferase 1

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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