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
341987632021Peroxisomal ABC Transporters: An Update.22
341987632021Peroxisomal ABC Transporters: An Update.22
305404942019Peroxisomes can oxidize medium- and long-chain fatty acids through a pathway involving ABCD3 and HSD17B4.58
305404942019Peroxisomes can oxidize medium- and long-chain fatty acids through a pathway involving ABCD3 and HSD17B4.58
267112362016The N-terminal motif of PMP70 suppresses cotranslational targeting to the endoplasmic reticulum.3
270093562016Structural insights and in vitro reconstitution of membrane targeting and activation of human PI4KB by the ACBD3 protein.38
277662642016ABC Transporter Subfamily D: Distinct Differences in Behavior between ABCD1-3 and ABCD4 in Subcellular Localization, Function, and Human Disease.26
267112362016The N-terminal motif of PMP70 suppresses cotranslational targeting to the endoplasmic reticulum.3
270093562016Structural insights and in vitro reconstitution of membrane targeting and activation of human PI4KB by the ACBD3 protein.38
277662642016ABC Transporter Subfamily D: Distinct Differences in Behavior between ABCD1-3 and ABCD4 in Subcellular Localization, Function, and Human Disease.26
251683822015A novel bile acid biosynthesis defect due to a deficiency of peroxisomal ABCD3.46
258028342015Immunohistological analysis of ABCD3 expression in Caucasian and African American prostate tumors.6
251683822015A novel bile acid biosynthesis defect due to a deficiency of peroxisomal ABCD3.46
258028342015Immunohistological analysis of ABCD3 expression in Caucasian and African American prostate tumors.6
243338442014A role for the human peroxisomal half-transporter ABCD3 in the oxidation of dicarboxylic acids.49

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-(atp-binding-cassette-subfamily-d-member-3)