ABCD1
ATP binding cassette subfamily D member 1 | ALDP, AMN, adrenoleukodystrophy, ALD

The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ALD subfamily, which is involved in peroxisomal import of fatty acids and/or fatty acyl-CoAs in the organelle. All known peroxisomal ABC transporters are half transporters which require a partner half transporter molecule to form a functional homodimeric or heterodimeric transporter. This peroxisomal membrane protein is likely involved in the peroxisomal transport or catabolism of very long chain fatty acids. Defects in this gene have been identified as the underlying cause of adrenoleukodystrophy, an X-chromosome recessively inherited demyelinating disorder of the nervous system. [provided by RefSeq, Jul 2008]

Developmental clusters: GC2
Biological processes 98 terms
ABC-type fatty-acyl-CoA transporter activity (GO:0015607)ABC-type fatty-acyl-CoA transporter activity (GO:0015607)ABC-type transporter activity (GO:0140359)ADP binding (GO:0043531)ATP binding (GO:0005524)ATP binding (GO:0005524)ATP binding (GO:0005524)ATP hydrolysis activity (GO:0016887)ATP hydrolysis activity (GO:0016887)ATPase-coupled transmembrane transporter activity (GO:0042626)ATPase-coupled transmembrane transporter activity (GO:0042626)ATPase-coupled transmembrane transporter activity (GO:0042626)ATPase-coupled transmembrane transporter activity (GO:0042626)alpha-linolenic acid metabolic process (GO:0036109)cytoplasm (GO:0005737)cytosol (GO:0005829)endoplasmic reticulum membrane (GO:0005789)endoplasmic reticulum membrane (GO:0005789)enzyme binding (GO:0019899)fatty acid beta-oxidation (GO:0006635)fatty acid beta-oxidation (GO:0006635)fatty acid beta-oxidation (GO:0006635)fatty acid beta-oxidation (GO:0006635)fatty acid beta-oxidation (GO:0006635)fatty acid biosynthetic process (GO:0006633)fatty acid elongation (GO:0030497)fatty acid elongation (GO:0030497)fatty acid homeostasis (GO:0055089)fatty acid homeostasis (GO:0055089)fatty acyl-CoA hydrolase activity (GO:0047617)fatty acyl-CoA hydrolase activity (GO:0047617)fatty-acyl-CoA transport (GO:0015916)identical protein binding (GO:0042802)linoleic acid metabolic process (GO:0043651)long-chain fatty acid catabolic process (GO:0042758)long-chain fatty acid catabolic process (GO:0042758)long-chain fatty acid import into peroxisome (GO:0015910)long-chain fatty acid import into peroxisome (GO:0015910)long-chain fatty acid import into peroxisome (GO:0015910)long-chain fatty acid transmembrane transporter activity (GO:0005324)long-chain fatty acid transmembrane transporter activity (GO:0005324)long-chain fatty acid transmembrane transporter activity (GO:0005324)long-chain fatty acid transmembrane transporter activity (GO:0005324)long-chain fatty acid transmembrane transporter activity (GO:0005324)lysosomal membrane (GO:0005765)lysosomal membrane (GO:0005765)membrane (GO:0016020)membrane (GO:0016020)mitochondrial membrane (GO:0031966)mitochondrial membrane (GO:0031966)myelin maintenance (GO:0043217)myelin maintenance (GO:0043217)negative regulation of cytokine production involved in inflammatory response (GO:1900016)negative regulation of cytokine production involved in inflammatory response (GO:1900016)negative regulation of reactive oxygen species biosynthetic process (GO:1903427)negative regulation of reactive oxygen species biosynthetic process (GO:1903427)neuron projection maintenance (GO:1990535)neuron projection maintenance (GO:1990535)perinuclear region of cytoplasm (GO:0048471)peroxisomal membrane (GO:0005778)peroxisomal membrane (GO:0005778)peroxisomal membrane (GO:0005778)peroxisomal membrane (GO:0005778)peroxisomal membrane (GO:0005778)peroxisomal membrane transport (GO:0015919)peroxisome (GO:0005777)peroxisome (GO:0005777)peroxisome organization (GO:0007031)peroxisome organization (GO:0007031)peroxisome organization (GO:0007031)positive regulation of fatty acid beta-oxidation (GO:0032000)positive regulation of fatty acid beta-oxidation (GO:0032000)positive regulation of fatty acid beta-oxidation (GO:0032000)positive regulation of lipid metabolic process (GO:0045834)positive regulation of unsaturated fatty acid biosynthetic process (GO:2001280)positive regulation of unsaturated fatty acid biosynthetic process (GO:2001280)protein binding (GO:0005515)protein homodimerization activity (GO:0042803)regulation of cellular response to oxidative stress (GO:1900407)regulation of cellular response to oxidative stress (GO:1900407)regulation of fatty acid beta-oxidation (GO:0031998)regulation of fatty acid beta-oxidation (GO:0031998)regulation of fatty acid metabolic process (GO:0019217)regulation of mitochondrial depolarization (GO:0051900)regulation of mitochondrial depolarization (GO:0051900)regulation of oxidative phosphorylation (GO:0002082)regulation of oxidative phosphorylation (GO:0002082)sterol homeostasis (GO:0055092)sterol homeostasis (GO:0055092)transmembrane transport (GO:0055085)very long-chain fatty acid catabolic process (GO:0042760)very long-chain fatty acid catabolic process (GO:0042760)very long-chain fatty acid catabolic process (GO:0042760)very long-chain fatty acid catabolic process (GO:0042760)very long-chain fatty acid metabolic process (GO:0000038)very long-chain fatty acid metabolic process (GO:0000038)very long-chain fatty acyl-CoA hydrolase activity (GO:0052817)very long-chain fatty-acyl-CoA catabolic process (GO:0036113)
Expression (TPM)
ABCD1 — as a Regulated Gene

TFs regulating ABCD1 0 TFs

Transcription factors with Perturb-seq knockdown data for ABCD1. The Binding column indicates whether any binding evidence exists for this TF–gene pair (ChIP-seq or motif footprint peaks). The Mean coef is the average Perturb-seq regression coefficient across active gRNAs (positive = ABCD1 upregulated upon KD; negative = downregulated). The Outlier column indicates whether this gene is in the top or bottom 5% of all TF knockdown effects.

Data: Effect:
TF Mean coef Binding Outlier TF→Gene link

Elements linked to ABCD1

Open chromatin peaks (ATAC-seq) in the genomic neighbourhood of ABCD1, linked by TSS proximity or chromatin conformation (Multiome / HiCAR). Each element overlaps at least one TF ChIP-seq binding site — the TFs column shows how many distinct TFs bind that element.

Accessibility Element Dist. to TSS Link type TFs
chrX:153,469,901–153,471,108 254.1 kb Distal (>10kb) Multiome 508
chrX:153,598,511–153,599,722 125.6 kb Distal (>10kb) Multiome 459
chrX:153,609,905–153,610,354 114.8 kb Distal (>10kb) Multiome 404
chrX:153,687,144–153,688,247 37.1 kb Distal (>10kb) Multiome 201
chrX:153,723,829–153,725,285 245 bp At TSS Multiome 620
chrX:153,726,395–153,727,168 2.1 kb Proximal (<10kb) Multiome 529
chrX:153,793,808–153,795,045 69.6 kb Distal (>10kb) Multiome 733
chrX:153,875,415–153,875,856 150.8 kb Distal (>10kb) Multiome 847
chrX:153,878,887–153,879,684 154.4 kb Distal (>10kb) Multiome 235
chrX:153,927,955–153,928,728 203.6 kb Distal (>10kb) Multiome 711
chrX:153,934,763–153,935,658 210.3 kb Distal (>10kb) Multiome 446

Genome Browser

Genomic view of the ABCD1 locus showing ATAC-seq accessibility and RNA-seq expression across the ESC → DE time course, together with TF binding peaks and element-to-TSS loop connections.

chrX:153,459,901 – 153,945,658
Proximal 1 kb Distal 10 kb Multiome HiCAR ATAC-seq RNA-seq