ACACA (acetyl-CoA carboxylase alpha)

2007-03-01 Affiliation

Identity

HGNC

ACACA

LOCATION

17q12

LOCUSID

ALIAS

ACAC,ACACAD,ACC,ACC1,ACCA

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 31
MIM: 200350
HGNC: 84
Ensembl: ENSG00000278540

Variants:

dbSNP: 31
ClinVar: 31
TCGA: ENSG00000278540
COSMIC: ACACA

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000278540	ENST00000612007	A0A087X2F8
ENSG00000278540	ENST00000612895	Q13085
ENSG00000278540	ENST00000614428	Q13085
ENSG00000278540	ENST00000614438	A0A087X126
ENSG00000278540	ENST00000614482	A0A087WWN5
ENSG00000278540	ENST00000614789	A0A087WVR6
ENSG00000278540	ENST00000615229	A0A087WYK6
ENSG00000278540	ENST00000616317	Q13085
ENSG00000278540	ENST00000616352	A0A0C4DGT1
ENSG00000278540	ENST00000617548	A0A087WYK6
ENSG00000278540	ENST00000617649	Q13085
ENSG00000278540	ENST00000617649	A0A024R0Y2
ENSG00000278540	ENST00000618053	A0A087WYS8
ENSG00000278540	ENST00000619546	Q59FY4
ENSG00000278540	ENST00000621960	A0A087X0W4

Expression (GTEx)

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

Pathway	Source	External ID
Fatty acid biosynthesis	KEGG	ko00061
Pyruvate metabolism	KEGG	ko00620
Propanoate metabolism	KEGG	ko00640
Insulin signaling pathway	KEGG	ko04910
Fatty acid biosynthesis	KEGG	hsa00061
Pyruvate metabolism	KEGG	hsa00620
Propanoate metabolism	KEGG	hsa00640
Insulin signaling pathway	KEGG	hsa04910
Metabolic pathways	KEGG	hsa01100
Fatty acid biosynthesis, initiation	KEGG	M00082
Fatty acid metabolism	KEGG	hsa01212
Fatty acid metabolism	KEGG	ko01212
Fatty acid biosynthesis, initiation	KEGG	hsa_M00082
AMPK signaling pathway	KEGG	hsa04152
AMPK signaling pathway	KEGG	ko04152
Glucagon signaling pathway	KEGG	hsa04922
Glucagon signaling pathway	KEGG	ko04922
Disease	REACTOME	R-HSA-1643685
Diseases of metabolism	REACTOME	R-HSA-5668914
Defects in vitamin and cofactor metabolism	REACTOME	R-HSA-3296482
Defects in biotin (Btn) metabolism	REACTOME	R-HSA-3323169
Defective HLCS causes multiple carboxylase deficiency	REACTOME	R-HSA-3371599
Metabolism	REACTOME	R-HSA-1430728
Metabolism of lipids and lipoproteins	REACTOME	R-HSA-556833
Fatty acid, triacylglycerol, and ketone body metabolism	REACTOME	R-HSA-535734
Triglyceride Biosynthesis	REACTOME	R-HSA-75109
Fatty Acyl-CoA Biosynthesis	REACTOME	R-HSA-75105
Regulation of cholesterol biosynthesis by SREBP (SREBF)	REACTOME	R-HSA-1655829
Activation of gene expression by SREBF (SREBP)	REACTOME	R-HSA-2426168
Integration of energy metabolism	REACTOME	R-HSA-163685
ChREBP activates metabolic gene expression	REACTOME	R-HSA-163765
Metabolism of vitamins and cofactors	REACTOME	R-HSA-196854
Metabolism of water-soluble vitamins and cofactors	REACTOME	R-HSA-196849
Biotin transport and metabolism	REACTOME	R-HSA-196780

Protein levels (Protein atlas)

Not detected

Low

Medium

High

PharmGKB

Entity ID	Name	Type	Evidence	Association	PMIDs
PA33744	PRKAA1	Gene	Pathway	associated	22722338
PA33745	PRKAA2	Gene	Pathway	associated	22722338
PA33746	PRKAB1	Gene	Pathway	associated	22722338
PA33747	PRKAB2	Gene	Pathway	associated	22722338
PA33751	PRKAG1	Gene	Pathway	associated	22722338
PA33752	PRKAG2	Gene	Pathway	associated	22722338
PA33753	PRKAG3	Gene	Pathway	associated	22722338

References

Pubmed ID	Year	Title	Citations
19913121	2009	Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.	85
17631500	2007	Up-regulation of acetyl-CoA carboxylase alpha and fatty acid synthase by human epidermal growth factor receptor 2 at the translational level in breast cancer cells.	76
20379614	2010	Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.	62
19710915	2009	Inhibition of stearoylCoA desaturase-1 inactivates acetyl-CoA carboxylase and impairs proliferation in cancer cells: role of AMPK.	58
20457939	2010	Induced polymerization of mammalian acetyl-CoA carboxylase by MIG12 provides a tertiary level of regulation of fatty acid synthesis.	46
21471234	2011	Human cytomegalovirus induces the activity and expression of acetyl-coenzyme A carboxylase, a fatty acid biosynthetic enzyme whose inhibition attenuates viral replication.	46
18056116	2008	Aldo-keto reductase family 1 B10 affects fatty acid synthesis by regulating the stability of acetyl-CoA carboxylase-alpha in breast cancer cells.	40
21726077	2011	The lipogenesis pathway as a cancer target.	39
16326698	2006	BRCA1 affects lipid synthesis through its interaction with acetyl-CoA carboxylase.	38
19543203	2010	The gene expression of the main lipogenic enzymes is downregulated in visceral adipose tissue of obese subjects.	31

Citation

Dessen P

ACACA (acetyl-CoA carboxylase alpha)

Atlas Genet Cytogenet Oncol Haematol. 2007-03-01

Online version: http://atlasgeneticsoncology.org/gene/42971/acaca-(acetyl-coa-carboxylase-alpha)