ACBD6 (acyl-CoA binding domain containing 6)

2012-11-01  

Identity

HGNC
ACBD6
LOCATION
1q25.2
LOCUSID
84320
ALIAS
-
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 84320
MIM: 616352
HGNC: 23339
Ensembl: ENSG00000230124

Variants:

dbSNP: 84320
ClinVar: 84320
TCGA: ENSG00000230124
COSMIC: ACBD6

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000230124ENST00000367595Q9BR61
ENSG00000230124ENST00000367595A0A024R915
ENSG00000230124ENST00000642319Q9BR61
ENSG00000230124ENST00000642319A0A024R915
ENSG00000230124ENST00000645415A0A2R8Y544

Expression (GTEx)

0
5
10
15
20
25
30
35
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
MetabolismREACTOMER-HSA-1430728
Metabolism of lipids and lipoproteinsREACTOMER-HSA-556833
Fatty acid, triacylglycerol, and ketone body metabolismREACTOMER-HSA-535734
Triglyceride BiosynthesisREACTOMER-HSA-75109
Fatty Acyl-CoA BiosynthesisREACTOMER-HSA-75105

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
379515972024Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders.0
379515972024Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders.0
365511542022Dual Role of ACBD6 in the Acylation Remodeling of Lipids and Proteins.1
365511542022Dual Role of ACBD6 in the Acylation Remodeling of Lipids and Proteins.1
321081782020Requirement of the acyl-CoA carrier ACBD6 in myristoylation of proteins: Activation by ligand binding and protein interaction.4
321081782020Requirement of the acyl-CoA carrier ACBD6 in myristoylation of proteins: Activation by ligand binding and protein interaction.4
306428812019ACBD6 protein controls acyl chain availability and specificity of the N-myristoylation modification of proteins.10
306428812019ACBD6 protein controls acyl chain availability and specificity of the N-myristoylation modification of proteins.10
296421832018Identification of genes related to consecutive trauma-induced sepsis via gene expression profiling analysis.6
296421832018Identification of genes related to consecutive trauma-induced sepsis via gene expression profiling analysis.6
266219182016Association of NMT2 with the acyl-CoA carrier ACBD6 protects the N-myristoyltransferase reaction from palmitoyl-CoA.14
266219182016Association of NMT2 with the acyl-CoA carrier ACBD6 protects the N-myristoyltransferase reaction from palmitoyl-CoA.14
262906112015Ligand binding to the ACBD6 protein regulates the acyl-CoA transferase reactions in membranes.12
262906112015Ligand binding to the ACBD6 protein regulates the acyl-CoA transferase reactions in membranes.12
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.78

Citation

Dessen P

ACBD6 (acyl-CoA binding domain containing 6)

Atlas Genet Cytogenet Oncol Haematol. 2012-11-01

Online version: http://atlasgeneticsoncology.org/gene/52966/acbd6-(acyl-coa-binding-domain-containing-6)