ACAA1 (acetyl-CoA acyltransferase 1)

2014-11-01  

Identity

HGNC
ACAA1
LOCATION
3p22.2
LOCUSID
30
ALIAS
ACAA,PTHIO,THIO
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 30
MIM: 604054
HGNC: 82
Ensembl: ENSG00000060971

Variants:

dbSNP: 30
ClinVar: 30
TCGA: ENSG00000060971
COSMIC: ACAA1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000060971ENST00000301810P09110
ENSG00000060971ENST00000301810A0A140VJX0
ENSG00000060971ENST00000333167P09110
ENSG00000060971ENST00000333167A0A024R2M6
ENSG00000060971ENST00000411549B4DVF4
ENSG00000060971ENST00000418880F2Z2Q6
ENSG00000060971ENST00000421218H7C131
ENSG00000060971ENST00000423611F2Z2Q6
ENSG00000060971ENST00000440176F2Z3P7
ENSG00000060971ENST00000447223F2Z3P7
ENSG00000060971ENST00000450296C9JDE9
ENSG00000060971ENST00000452171H0Y4D4
ENSG00000060971ENST00000625927F2Z2Q6
ENSG00000060971ENST00000627515F2Z3P7

Expression (GTEx)

0
50
100
150
200
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Fatty acid degradationKEGGko00071
Valine, leucine and isoleucine degradationKEGGko00280
alpha-Linolenic acid metabolismKEGGko00592
Biosynthesis of unsaturated fatty acidsKEGGko01040
PPAR signaling pathwayKEGGko03320
Fatty acid degradationKEGGhsa00071
Valine, leucine and isoleucine degradationKEGGhsa00280
alpha-Linolenic acid metabolismKEGGhsa00592
Biosynthesis of unsaturated fatty acidsKEGGhsa01040
PPAR signaling pathwayKEGGhsa03320
PeroxisomeKEGGko04146
PeroxisomeKEGGhsa04146
Metabolic pathwaysKEGGhsa01100
beta-OxidationKEGGhsa_M00087
beta-OxidationKEGGM00087
Fatty acid metabolismKEGGhsa01212
Fatty acid metabolismKEGGko01212
Immune SystemREACTOMER-HSA-168256
Innate Immune SystemREACTOMER-HSA-168249
MetabolismREACTOMER-HSA-1430728
Metabolism of lipids and lipoproteinsREACTOMER-HSA-556833
Peroxisomal lipid metabolismREACTOMER-HSA-390918
Beta-oxidation of very long chain fatty acidsREACTOMER-HSA-390247
alpha-linolenic (omega3) and linoleic (omega6) acid metabolismREACTOMER-HSA-2046104
alpha-linolenic acid (ALA) metabolismREACTOMER-HSA-2046106
Neutrophil degranulationREACTOMER-HSA-6798695

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
381549802024[Clinical phenotypic and genotypic analysis of 5 pediatric patients with β-ketothiolase deficiency].0
381549802024[Clinical phenotypic and genotypic analysis of 5 pediatric patients with β-ketothiolase deficiency].0
371299512023Inhibition of ACAA1 Restrains Proliferation and Potentiates the Response to CDK4/6 Inhibitors in Triple-Negative Breast Cancer.3
371299512023Inhibition of ACAA1 Restrains Proliferation and Potentiates the Response to CDK4/6 Inhibitors in Triple-Negative Breast Cancer.3
344657232021A novel missense variant in ACAA1 contributes to early-onset Alzheimer's disease, impairs lysosomal function, and facilitates amyloid-β pathology and cognitive decline.13
344657232021A novel missense variant in ACAA1 contributes to early-onset Alzheimer's disease, impairs lysosomal function, and facilitates amyloid-β pathology and cognitive decline.13
210480312011Single nucleotide polymorphisms of matrix metalloproteinase 9 (MMP9) and tumor protein 73 (TP73) interact with Epstein-Barr virus in chronic lymphocytic leukemia: results from the European case-control study EpiLymph.5
221517432011Effects of endotoxin exposure on childhood asthma risk are modified by a genetic polymorphism in ACAA1.11
210480312011Single nucleotide polymorphisms of matrix metalloproteinase 9 (MMP9) and tumor protein 73 (TP73) interact with Epstein-Barr virus in chronic lymphocytic leukemia: results from the European case-control study EpiLymph.5
221517432011Effects of endotoxin exposure on childhood asthma risk are modified by a genetic polymorphism in ACAA1.11
204069642010Risk of meningioma and common variation in genes related to innate immunity.21
204387852010Polymorphisms in innate immunity genes and risk of childhood leukemia.12
206280862010Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.15
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.20
204069642010Risk of meningioma and common variation in genes related to innate immunity.21

Citation

Dessen P

ACAA1 (acetyl-CoA acyltransferase 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/60068/img/case-report-explorer/js/lib/bootstrap.min.js