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Protein / target

ATP-binding cassette sub-family D member 1

Encoded byABCD1P33897Homo sapiensSwiss-Prot
Clinically validated
Therapeutic maturity
1
Approved medicines
Open Targets target-level
Small-molecule tractable
Druggability
Structure with Ligand
2
Research papers

Protein at a glance

Biological role

Long-chain fatty acid transmembrane transporter

Strongest disease association

Adrenoleukodystrophy

Via encoding gene ABCD1 · Genetic evidence · score 0.99

Therapeutic position

Established drug target

Research activity

Emerging research

2 papers · latest 2020

Derived from structured UniProt, Open Targets and literature data on this page.

Protein profile

UniProt 2026_02

Canonical identity and biological annotation from UniProt.

Function overview

ATP-dependent transporter of the ATP-binding cassette (ABC) family involved in the transport of very long chain fatty acid (VLCFA)-CoA from the cytosol to the peroxisome lumen.

View complete UniProt function annotation

ATP-dependent transporter of the ATP-binding cassette (ABC) family involved in the transport of very long chain fatty acid (VLCFA)-CoA from the cytosol to the peroxisome lumen (PubMed:11248239, PubMed:15682271, PubMed:16946495, PubMed:18757502, PubMed:21145416, PubMed:23671276, PubMed:29397936, PubMed:33500543). Coupled to the ATP-dependent transporter activity also has a fatty acyl-CoA thioesterase activity (ACOT) and hydrolyzes VLCFA-CoA into VLCFA prior their ATP-dependent transport into peroxisomes, the ACOT activity is essential during this transport process (PubMed:29397936, PubMed:33500543). Thus, plays a role in regulation of VLCFAs and energy metabolism namely, in the degradation and biosynthesis of fatty acids by beta-oxidation, mitochondrial function and microsomal fatty acid elongation (PubMed:21145416, PubMed:23671276). Involved in several processes; namely, controls the active myelination phase by negatively regulating the microsomal fatty acid elongation activity and may also play a role in axon and myelin maintenance. Also controls the cellular response to oxidative stress by regulating mitochondrial functions such as mitochondrial oxidative phosphorylation and depolarization. And finally controls the inflammatory response by positively regulating peroxisomal beta-oxidation of VLCFAs (By similarity)

Subcellular location

Peroxisome membraneMitochondrion membraneLysosome membraneEndoplasmic reticulum membrane
Domains and Gene Ontology detail (45)

Domains & features

ABC transmembrane type-1ABC transporter

Gene Ontology

  • Ccytoplasm
  • Ccytosol
  • Cendoplasmic reticulum membrane
  • Clysosomal membrane
  • Cmembrane
  • Cmitochondrial membrane
  • Cperinuclear region of cytoplasm
  • Cperoxisomal membrane
  • Cperoxisome
  • FABC-type fatty-acyl-CoA transporter activity
  • FADP binding
  • FATP binding

745 aa · 83 kDa

Biological roles

What this protein does, drawn together from its UniProt function, Gene Ontology terms and Reactome pathways.

Lipid & lipoprotein metabolismUniProt · GOImmune signallingUniProt · GO
View supporting evidence

Lipid & lipoprotein metabolism

  • ·ATP-dependent transporter of the ATP-binding cassette (ABC) family involved in the trans…
  • ·long-chain fatty acid transmembrane transporter activity
  • ·fatty acid beta-oxidation
  • ·fatty acid elongation

Immune signalling

  • ·ATP-dependent transporter of the ATP-binding cassette (ABC) family involved in the trans…
  • ·negative regulation of cytokine production involved in inflammatory response

Concepts derived from UniProt GO Reactome — each badge above shows which sources supported that role.

Translational evidence

Open Targets 26

Why this target matters therapeutically, strongest evidence first. Disease associations are gene-level (via the gene that encodes this protein) and open into the full confidence synthesis; the development universe, tractability and safety annotations are target-level, from Open Targets.

Strongest disease associations · via encoding gene ABCD1

Gene-level evidence surfaced through the gene ABCD1that encodes this protein — not a direct protein–disease relationship. Ranked by Forefront's causal-directness weighting, so genetically- and clinically-evidenced diseases lead over ones that merely share the literature.

Adrenoleukodystrophy
0.99Well supported

Genetic evidence dominant · Open Targets 0.87

Genetic Diseases, Inborn
0.90Well supported

Genetic evidence dominant · Open Targets 0.55

Hirschsprung disease
0.61Moderately supported

Genetic evidence dominant · Open Targets 0.37

Neurodegenerative Diseases
0.30Preliminary

Pathway evidence dominant · Open Targets 0.44 · no direct causal or clinical evidence

View evidence synthesis (4)
AdrenoleukodystrophyWell supported
0.99
agreement 0.901.00
Genetic50%Clinical23%Pathway12%Animal model7%Literature7%Genetic literaturedup

Open Targets aggregate 0.87 · 5 independent evidence families · 1 not counted as duplicate

Genetic Diseases, InbornWell supported
0.90
agreement 0.761.00
Genetic98%Literature2%

Open Targets aggregate 0.55 · 2 independent evidence families

Hirschsprung diseaseModerately supported
0.61
agreement 0.470.75
Genetic99%Literature1%

Open Targets aggregate 0.37 · 2 independent evidence families

Neurodegenerative DiseasesPreliminary
0.30
agreement 0.120.47
Pathway97%Literature3%

Open Targets aggregate 0.44 · 2 independent evidence families · no direct causal or clinical evidence

The evidence agreement range shows how closely the independent evidence families agree — it is not a statistical confidence interval, and nothing here is fitted to outcome data. Derived from Open Targets evidence types under Forefront weighting; the per-type scores above show the calculation.

Show all associations
Adrenoleukodystrophy0.87
Genetic Diseases, Inborn0.55
Neurodegenerative Diseases0.44
Hirschsprung disease0.37

Drug development

1 compounds recorded · 1 approved

Open Targets' development universe — every compound recorded against the target at any stage, not all approved medicines.

View all recorded compounds (1)
ELIVALDOGENE AUTOTEMCELApproval

Open Targets known-drugs universe. Drug name and highest clinical stage only — the disease relationship is NOT read from this slice (it carries trial-context noise); approved indications come from the canonical graph above.

Tractability

Small moleculesEmerging

Feasibility evidence (structure with ligand) — no clinical-stage drug of this modality recorded.

AntibodiesEmerging

Feasibility evidence (uniprot sigp or tmhmm) — no clinical-stage drug of this modality recorded.

Protein degradersEmerging

Feasibility evidence (database ubiquitination and half-life data) — no clinical-stage drug of this modality recorded.

View underlying tractability evidence (4)
SM · Structure with LigandAB · UniProt SigP or TMHMMPR · Database UbiquitinationPR · Half-life Data

Raw Open Targets tractability assessment buckets, by modality.

Research activity

2 papers · to 2020

Papers linked directly to this protein. This is the protein's own literature — descriptor-derived papers are kept separate below.

Most cited

Turk BR · International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience · 2020

Recent

X-linked adrenoleukodystrophy: Pathology, pathophysiology, diagnostic testing, newborn screening and therapies.

Turk BR · International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience · 2020

Europe PMC papers linked directly to this protein.