ACADL (acyl-CoA dehydrogenase long chain)

2014-11-01 Affiliation

Identity

HGNC

ACADL

LOCATION

2q34

LOCUSID

ALIAS

ACAD4,LCAD

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: 33
MIM: 609576
HGNC: 88
Ensembl: ENSG00000115361

Variants:

dbSNP: 33
ClinVar: 33
TCGA: ENSG00000115361
COSMIC: ACADL

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000115361	ENST00000233710	P28330

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 degradation	KEGG	ko00071
PPAR signaling pathway	KEGG	ko03320
Fatty acid degradation	KEGG	hsa00071
PPAR signaling pathway	KEGG	hsa03320
Metabolic pathways	KEGG	hsa01100
beta-Oxidation	KEGG	hsa_M00087
beta-Oxidation	KEGG	M00087
Fatty acid metabolism	KEGG	hsa01212
Fatty acid metabolism	KEGG	ko01212
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
Mitochondrial Fatty Acid Beta-Oxidation	REACTOME	R-HSA-77289
mitochondrial fatty acid beta-oxidation of saturated fatty acids	REACTOME	R-HSA-77286
Beta oxidation of myristoyl-CoA to lauroyl-CoA	REACTOME	R-HSA-77285
Beta oxidation of lauroyl-CoA to decanoyl-CoA-CoA	REACTOME	R-HSA-77310
mitochondrial fatty acid beta-oxidation of unsaturated fatty acids	REACTOME	R-HSA-77288

Protein levels (Protein atlas)

Not detected

Low

Medium

High

References

Pubmed ID	Year	Title	Citations
20037589	2010	A genome-wide perspective of genetic variation in human metabolism.	252
19913121	2009	Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.	85
24121500	2013	Sirtuin 3 (SIRT3) protein regulates long-chain acyl-CoA dehydrogenase by deacetylating conserved lysines near the active site.	56
18660489	2008	Multiple genetic variants along candidate pathways influence plasma high-density lipoprotein cholesterol concentrations.	26
20877624	2010	Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.	17
24591516	2014	Long-chain acyl-CoA dehydrogenase deficiency as a cause of pulmonary surfactant dysfunction.	15
20628086	2010	Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.	11
20363655	2010	Low expression of long-chain acyl-CoA dehydrogenase in human skeletal muscle.	6
31234015	2019	The fatty acid oxidation enzyme long-chain acyl-CoA dehydrogenase can be a source of mitochondrial hydrogen peroxide.	5

Citation

Dessen P

ACADL (acyl-CoA dehydrogenase long chain)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/60072/acadl