Seroatlas · Human Serome Atlas

ABCD1

ATP-binding cassette sub-family D member 1

Also known as: ABCD1_HUMAN, adrenoleukodystrophy, ALD, ALDP, AMN

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession
P33897
Gene
ABCD1
Ensembl
ENSG00000101986
Chromosome
X
Canonical length
745 aa
Protein class
Disease related genes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted membrane proteins, Transporters
Quaternary structure
Homotetramer

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

745 residues, UniProt reviewed canonical sequence.

>P33897|ABCD1
     1  MPVLSRPRPW RGNTLKRTAV LLALAAYGAH KVYPLVRQCL APARGLQAPA GEPTQEASGV
    61  AAAKAGMNRV FLQRLLWLLR LLFPRVLCRE TGLLALHSAA LVSRTFLSVY VARLDGRLAR
   121  CIVRKDPRAF GWQLLQWLLI ALPATFVNSA IRYLEGQLAL SFRSRLVAHA YRLYFSQQTY
   181  YRVSNMDGRL RNPDQSLTED VVAFAASVAH LYSNLTKPLL DVAVTSYTLL RAARSRGAGT
   241  AWPSAIAGLV VFLTANVLRA FSPKFGELVA EEARRKGELR YMHSRVVANS EEIAFYGGHE
   301  VELALLQRSY QDLASQINLI LLERLWYVML EQFLMKYVWS ASGLLMVAVP IITATGYSES
   361  DAEAVKKAAL EKKEEELVSE RTEAFTIARN LLTAAADAIE RIMSSYKEVT ELAGYTARVH
   421  EMFQVFEDVQ RCHFKRPREL EDAQAGSGTI GRSGVRVEGP LKIRGQVVDV EQGIICENIP
   481  IVTPSGEVVV ASLNIRVEEG MHLLITGPNG CGKSSLFRIL GGLWPTYGGV LYKPPPQRMF
   541  YIPQRPYMSV GSLRDQVIYP DSVEDMQRKG YSEQDLEAIL DVVHLHHILQ REGGWEAMCD
   601  WKDVLSGGEK QRIGMARMFY HRPKYALLDE CTSAVSIDVE GKIFQAAKDA GIALLSITHR
   661  PSLWKYHTHL LQFDGEGGWK FEKLDSAARL SLTEEKQRLE QQLAGIPKMQ RRLQELCQIL
   721  GEAVAPAHVP APSPQGPGGL QGAST

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against ABCD1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability
Other membrane
Secreted
No
Transmembrane segments
5
Mean surface accessibility (rSASA)
0.34
Highest tissue expression
31 nTPM

Expression across tissuesHPA

Tissue

  • adrenal gland: 31 nTPM
  • endometrium: 28 nTPM
  • skeletal muscle: 20 nTPM
  • testis: 19 nTPM
  • small intestine: 16 nTPM
  • colon: 14 nTPM

Single-cell type

  • enterocytes: 52 nCPM
  • thymic myoid cells: 42 nCPM
  • syncytiotrophoblasts: 38 nCPM
  • extravillous trophoblasts: 29 nCPM
  • migrating cytotrophoblasts: 21 nCPM
  • sertoli cells: 20 nCPM

Immune cell

  • MAIT T-cell: 4 nTPM
  • classical monocyte: 3.2 nTPM
  • intermediate monocyte: 3 nTPM
  • non-classical monocyte: 2.8 nTPM
  • myeloid DC: 2.7 nTPM
  • eosinophil: 2.5 nTPM

Brain region

  • thalamus: 12 nTPM
  • pons: 10 nTPM
  • medulla oblongata: 9.1 nTPM
  • white matter: 8.5 nTPM
  • basal ganglia: 8 nTPM
  • cerebral cortex: 7.5 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about ABCD1.

Disease | AllUniProt

Conditions ABCD1 is implicated in, by any mechanism.

Disease | GeneticClinVar

513 pathogenic / likely-pathogenic of 1,778 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)
0.15
gnomAD pLI
1
gnomAD missense Z
1.87
DepMap mean gene effect
-0.17
DepMap dependency class
selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of ABCD1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads ABCD1 as an antibody target. Whether an autoantibody or antibody against ABCD1 could matter depends on whether native ABCD1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

ABCD1 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label ABCD1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/ABCD1. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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