ACBD5 (acyl-CoA binding domain containing 5)

2015-11-01  

Identity

HGNC
ACBD5
LOCATION
10p12.1
LOCUSID
91452
ALIAS
RDLKD
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 91452
MIM: 616618
HGNC: 23338
Ensembl: ENSG00000107897

Variants:

dbSNP: 91452
ClinVar: 91452
TCGA: ENSG00000107897
COSMIC: ACBD5

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000107897ENST00000375888Q5T8D3
ENSG00000107897ENST00000375897B7Z2R7
ENSG00000107897ENST00000375901Q5T8D3
ENSG00000107897ENST00000375905Q5T8D3
ENSG00000107897ENST00000396271Q5T8D3
ENSG00000107897ENST00000412279X6RDD7
ENSG00000107897ENST00000426079Q5T8E0
ENSG00000107897ENST00000476758A0A087X0B8

Expression (GTEx)

0
5
10
15
20
25
30
35
40
45
50
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
Peroxisomal lipid metabolismREACTOMER-HSA-390918

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
374141472023Differential roles for ACBD4 and ACBD5 in peroxisome-ER interactions and lipid metabolism.0
374141472023Differential roles for ACBD4 and ACBD5 in peroxisome-ER interactions and lipid metabolism.0
346683662022Newly defined peroxisomal disease with novel ACBD5 mutation.6
350199372022Regulating peroxisome-ER contacts via the ACBD5-VAPB tether by FFAT motif phosphorylation and GSK3β.18
346683662022Newly defined peroxisomal disease with novel ACBD5 mutation.6
350199372022Regulating peroxisome-ER contacts via the ACBD5-VAPB tether by FFAT motif phosphorylation and GSK3β.18
334274022021First reported adult patient with retinal dystrophy and leukodystrophy caused by a novel ACBD5 variant: A case report and review of literature.10
334274022021First reported adult patient with retinal dystrophy and leukodystrophy caused by a novel ACBD5 variant: A case report and review of literature.10
305898812018Intracellular redistribution of neuronal peroxisomes in response to ACBD5 expression.10
305898812018Intracellular redistribution of neuronal peroxisomes in response to ACBD5 expression.10
278994492017Deficiency of a Retinal Dystrophy Protein, Acyl-CoA Binding Domain-containing 5 (ACBD5), Impairs Peroxisomal β-Oxidation of Very-long-chain Fatty Acids.43
281085242017ACBD5 and VAPB mediate membrane associations between peroxisomes and the ER.119
281085262017VAPs and ACBD5 tether peroxisomes to the ER for peroxisome maintenance and lipid homeostasis.132
278994492017Deficiency of a Retinal Dystrophy Protein, Acyl-CoA Binding Domain-containing 5 (ACBD5), Impairs Peroxisomal β-Oxidation of Very-long-chain Fatty Acids.43
281085242017ACBD5 and VAPB mediate membrane associations between peroxisomes and the ER.119

Citation

Dessen P

ACBD5 (acyl-CoA binding domain containing 5)

Atlas Genet Cytogenet Oncol Haematol. 2015-11-01

Online version: http://atlasgeneticsoncology.org/gene/55508