ABCD3 (ATP binding cassette subfamily D member 3)

2014-11-01  

Identity

HGNC
ABCD3
LOCATION
1p21.3
LOCUSID
5825
ALIAS
ABC43,CBAS5,PMP70,PXMP1,ZWS2
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 5825
MIM: 170995
HGNC: 67
Ensembl: ENSG00000117528

Variants:

dbSNP: 5825
ClinVar: 5825
TCGA: ENSG00000117528
COSMIC: ABCD3

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000117528ENST00000315713P28288
ENSG00000117528ENST00000370214P28288
ENSG00000117528ENST00000647998A0A3B3ITW3

Expression (GTEx)

0
5
10
15
20
25
30
35
40
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
ABC transportersKEGGko02010
ABC transportersKEGGhsa02010
PeroxisomeKEGGko04146
PeroxisomeKEGGhsa04146
Transmembrane transport of small moleculesREACTOMER-HSA-382551
ABC-family proteins mediated transportREACTOMER-HSA-382556
ABC transporters in lipid homeostasisREACTOMER-HSA-1369062

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
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
105518321999Homo- and heterodimerization of peroxisomal ATP-binding cassette half-transporters.27
105518321999Homo- and heterodimerization of peroxisomal ATP-binding cassette half-transporters.27
105518321999Homo- and heterodimerization of peroxisomal ATP-binding cassette half-transporters.27
186604892008Multiple genetic variants along candidate pathways influence plasma high-density lipoprotein cholesterol concentrations.26
251683822015A novel bile acid biosynthesis defect due to a deficiency of peroxisomal ABCD3.23
270093562016Structural insights and in vitro reconstitution of membrane targeting and activation of human PI4KB by the ACBD3 protein.22
243338442014A role for the human peroxisomal half-transporter ABCD3 in the oxidation of dicarboxylic acids.21
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.17

Citation

Dessen P

ABCD3 (ATP binding cassette subfamily D member 3)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/60042/abcd3