ACAA1 (acetyl-CoA acyltransferase 1)

2014-11-01  

Identity

HGNC
LOCATION
3p22.2
LOCUSID
ALIAS
ACAA,PTHIO,THIO
FUSION GENES

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

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

References

Pubmed IDYearTitleCitations
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
194235402009Common variation in genes related to innate immunity and risk of adult glioma.19
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.17
204069642010Risk of meningioma and common variation in genes related to innate immunity.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.11
221517432011Effects of endotoxin exposure on childhood asthma risk are modified by a genetic polymorphism in ACAA1.7
146210812003Angiotensin-converting enzyme genotype and the ventilatory response to exertional hypoxia.5
204387852010Polymorphisms in innate immunity genes and risk of childhood leukemia.5
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
163856532005Polymorphism of the ACE Gene in dialysis patients: overexpression of DD genotype in type 2 diabetic end-stage renal failure patients.2

Citation

Dessen P

ACAA1 (acetyl-CoA acyltransferase 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/60068/acaa1