ABCD1 (ATP binding cassette subfamily D member 1)

2010-04-01  

Identity

HGNC
ABCD1
LOCATION
Xq28
LOCUSID
215
ALIAS
ABC42,ALD,ALDP,AMN
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 215
MIM: 300371
HGNC: 61
Ensembl: ENSG00000101986

Variants:

dbSNP: 215
ClinVar: 215
TCGA: ENSG00000101986
COSMIC: ABCD1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000101986ENST00000218104P33897
ENSG00000101986ENST00000370129A6NEP8

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
MetabolismREACTOMER-HSA-1430728
Metabolism of lipids and lipoproteinsREACTOMER-HSA-556833
Peroxisomal lipid metabolismREACTOMER-HSA-390918
Beta-oxidation of very long chain fatty acidsREACTOMER-HSA-390247
alpha-linolenic (omega3) and linoleic (omega6) acid metabolismREACTOMER-HSA-2046104
alpha-linolenic acid (ALA) metabolismREACTOMER-HSA-2046106
Linoleic acid (LA) metabolismREACTOMER-HSA-2046105

References

Pubmed IDYearTitleCitations
368104502023Structural insights into substrate recognition and translocation of human peroxisomal ABC transporter ALDP.2
368104502023Structural insights into substrate recognition and translocation of human peroxisomal ABC transporter ALDP.2
347540732022Structural basis of acyl-CoA transport across the peroxisomal membrane by human ABCD1.7
350135842022Structures of the human peroxisomal fatty acid transporter ABCD1 in a lipid environment.5
350533992022Structure and Function of the ABCD1 Variant Database: 20 Years, 940 Pathogenic Variants, and 3400 Cases of Adrenoleukodystrophy.13
356762822022Structural basis of substrate recognition and translocation by human very long-chain fatty acid transporter ABCD1.7
363741782022Structural and functional insights of the human peroxisomal ABC transporter ALDP.2
347540732022Structural basis of acyl-CoA transport across the peroxisomal membrane by human ABCD1.7
350135842022Structures of the human peroxisomal fatty acid transporter ABCD1 in a lipid environment.5
350533992022Structure and Function of the ABCD1 Variant Database: 20 Years, 940 Pathogenic Variants, and 3400 Cases of Adrenoleukodystrophy.13
356762822022Structural basis of substrate recognition and translocation by human very long-chain fatty acid transporter ABCD1.7
363741782022Structural and functional insights of the human peroxisomal ABC transporter ALDP.2
331279852021Adrenoleukodystrophy siblings with a novel ABCD1 missense variant presenting with phenotypic differences: a case report and literature review.4
333730442021Evolution of adrenoleukodystrophy model systems.4
335005432021Acyl-CoA thioesterase activity of peroxisomal ABC protein ABCD1 is required for the transport of very long-chain acyl-CoA into peroxisomes.9

Citation

Dessen P

ABCD1 (ATP binding cassette subfamily D member 1)

Atlas Genet Cytogenet Oncol Haematol. 2010-04-01

Online version: http://atlasgeneticsoncology.org/gene/51425/case-report-explorer/img/gene-explorer/