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Aliases for ABCD1 Gene

Aliases for ABCD1 Gene

  • ATP-Binding Cassette, Sub-Family D (ALD), Member 1 2 3
  • ALD 3 4 6
  • Adrenoleukodystrophy Protein 3 4
  • ALDP 3 4
  • AMN 3 6
  • ATP-Binding Cassette Sub-Family D Member 1 3
  • ABC42 3

External Ids for ABCD1 Gene

Previous HGNC Symbols for ABCD1 Gene

  • ALD

Previous GeneCards Identifiers for ABCD1 Gene

  • GC0XP147127
  • GC0XP149445
  • GC0XP150576
  • GC0XP151458
  • GC0XP152511
  • GC0XP152643
  • GC0XP152990
  • GC0XP141647

Summaries for ABCD1 Gene

Entrez Gene Summary for ABCD1 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]

GeneCards Summary for ABCD1 Gene

ABCD1 (ATP-Binding Cassette, Sub-Family D (ALD), Member 1) is a Protein Coding gene. Diseases associated with ABCD1 include adrenoleukodystrophy and childhood-onset cerebral x-linked adrenoleukodystrophy. Among its related pathways are Disease and Metabolism. GO annotations related to this gene include protein homodimerization activity and enzyme binding. An important paralog of this gene is ABCD3.

UniProtKB/Swiss-Prot for ABCD1 Gene

  • Probable transporter. The nucleotide-binding fold acts as an ATP-binding subunit with ATPase activity.

Gene Wiki entry for ABCD1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ABCD1 Gene

Genomics for ABCD1 Gene

Regulatory Elements for ABCD1 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for ABCD1 Gene

Start:
153,724,868 bp from pter
End:
153,744,762 bp from pter
Size:
19,895 bases
Orientation:
Plus strand

Genomic View for ABCD1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for ABCD1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ABCD1 Gene

Proteins for ABCD1 Gene

  • Protein details for ABCD1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P33897-ABCD1_HUMAN
    Recommended name:
    ATP-binding cassette sub-family D member 1
    Protein Accession:
    P33897
    Secondary Accessions:
    • Q6GTZ2

    Protein attributes for ABCD1 Gene

    Size:
    745 amino acids
    Molecular mass:
    82937 Da
    Quaternary structure:
    • Can form homodimers and heterodimers with ABCD2/ALDR and ABCD3/PMP70. Dimerization is necessary to form an active transporter. Interacts with PEX19.

neXtProt entry for ABCD1 Gene

Proteomics data for ABCD1 Gene at MOPED

Post-translational modifications for ABCD1 Gene

  • Ubiquitination at Lys407 and Lys708
  • Glycosylation at Asn214
  • Modification sites at PhosphoSitePlus

Other Protein References for ABCD1 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for ABCD1 Gene

Domains for ABCD1 Gene

Gene Families for ABCD1 Gene

HGNC:
  • ABCD :ATP binding cassette transporters / subfamily D
IUPHAR :

Suggested Antigen Peptide Sequences for ABCD1 Gene

Graphical View of Domain Structure for InterPro Entry

P33897

UniProtKB/Swiss-Prot:

ABCD1_HUMAN :
  • P33897
Domain:
  • Contains 1 ABC transmembrane type-1 domain.
  • Contains 1 ABC transporter domain.
Family:
  • Belongs to the ABC transporter superfamily. ABCD family. Peroxisomal fatty acyl CoA transporter (TC 3.A.1.203) subfamily.
genes like me logo Genes that share domains with ABCD1: view

Function for ABCD1 Gene

Molecular function for ABCD1 Gene

GENATLAS Biochemistry: ATP-binding cassette superfamily,subfamily D (ALD),member 1,peroxisomal membrane protein,enhancing the association of very long chain acyl-CoA synthethase with the peroxisome
UniProtKB/Swiss-Prot Function: Probable transporter. The nucleotide-binding fold acts as an ATP-binding subunit with ATPase activity.

Gene Ontology (GO) - Molecular Function for ABCD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005215 transporter activity NAS 8441467
GO:0005325 peroxisomal fatty-acyl-CoA transporter activity TAS --
GO:0005515 protein binding IPI 10551832
GO:0005524 ATP binding IDA 11248239
GO:0016887 ATPase activity IDA 11248239
genes like me logo Genes that share ontologies with ABCD1: view
genes like me logo Genes that share phenotypes with ABCD1: view

Animal Models for ABCD1 Gene

MGI Knock Outs for ABCD1:

Animal Model Products

CRISPR Products

miRNA for ABCD1 Gene

miRTarBase miRNAs that target ABCD1

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for ABCD1 Gene

Localization for ABCD1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ABCD1 Gene

Peroxisome membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ABCD1 Gene COMPARTMENTS Subcellular localization image for ABCD1 gene
Compartment Confidence
peroxisome 5
cytosol 4
mitochondrion 2
endoplasmic reticulum 1
golgi apparatus 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for ABCD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA 17761426
GO:0005739 mitochondrion IEA --
GO:0005777 peroxisome IDA 10777694
GO:0005778 peroxisomal membrane TAS --
GO:0005779 integral component of peroxisomal membrane NAS 8441467
genes like me logo Genes that share ontologies with ABCD1: view

Pathways for ABCD1 Gene

SuperPathways for ABCD1 Gene

Superpath Contained pathways
1 Defective BTD causes biotidinase deficiency
2 alpha-linolenic (omega3) and linoleic (omega6) acid metabolism
3 Lipoprotein metabolism
4 ABC-family proteins mediated transport
5 Metabolism
genes like me logo Genes that share pathways with ABCD1: view

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

Gene Ontology (GO) - Biological Process for ABCD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006200 obsolete ATP catabolic process --
GO:0006635 fatty acid beta-oxidation IGI 18757502
GO:0006810 transport --
GO:0007031 peroxisome organization NAS 8441467
GO:0015910 peroxisomal long-chain fatty acid import IGI 18757502
genes like me logo Genes that share ontologies with ABCD1: view

Compounds for ABCD1 Gene

(13) Novoseek inferred chemical compound relationships for ABCD1 Gene

Compound -log(P) Hits PubMed IDs
lignoceric acid 74.3 3
fatty acid 64.2 15
acyl-coa 56.9 3
lovastatin 54.8 1
manganese superoxide 22.3 1
genes like me logo Genes that share compounds with ABCD1: view

Transcripts for ABCD1 Gene

mRNA/cDNA for ABCD1 Gene

Unigene Clusters for ABCD1 Gene

ATP-binding cassette, sub-family D (ALD), member 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for ABCD1

Primer Products

  • OriGene qSTAR qPCR primer pairs in human,mouse,rat for ABCD1

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for ABCD1 Gene

ExUns: 1a · 1b ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11 ^ 12 ^ 13 ^ 14a · 14b
SP1: - - -
SP2:
SP3: -
SP4: - -
SP5:

Relevant External Links for ABCD1 Gene

GeneLoc Exon Structure for
ABCD1
ECgene alternative splicing isoforms for
ABCD1

Expression for ABCD1 Gene

mRNA expression in normal human tissues for ABCD1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for ABCD1 Gene

SOURCE GeneReport for Unigene cluster for ABCD1 Gene Hs.159546

genes like me logo Genes that share expressions with ABCD1: view

In Situ Assay Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for ABCD1 Gene

Orthologs for ABCD1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for ABCD1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ABCD1 35
  • 98.8 (n)
  • 98.75 (a)
cow
(Bos Taurus)
Mammalia ABCD1 35
  • 88.48 (n)
  • 91.53 (a)
ABCD1 36
  • 91 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ABCD1 35
  • 90.05 (n)
  • 93.01 (a)
ABCD1 36
  • 92 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Abcd1 35
  • 86.61 (n)
  • 92.08 (a)
Abcd1 16
Abcd1 36
  • 92 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ABCD1 36
  • 80 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ABCD1 36
  • 94 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Abcd1 35
  • 86.48 (n)
  • 91.53 (a)
lizard
(Anolis carolinensis)
Reptilia ABCD1 36
  • 72 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia abcd1 35
  • 70.39 (n)
  • 77.23 (a)
zebrafish
(Danio rerio)
Actinopterygii abcd1 35
  • 67.36 (n)
  • 68.81 (a)
abcd1 36
  • 66 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG2316 36
  • 47 (a)
OneToMany
CG2316 37
  • 53 (a)
worm
(Caenorhabditis elegans)
Secernentea pmp-4 36
  • 51 (a)
OneToMany
T02D1.5 37
  • 56 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PXA1 36
  • 26 (a)
OneToMany
bread mold
(Neurospora crassa)
Ascomycetes NCU01751 35
  • 54.77 (n)
  • 46.32 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 59 (a)
OneToMany
Species with no ortholog for ABCD1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ABCD1 Gene

ENSEMBL:
Gene Tree for ABCD1 (if available)
TreeFam:
Gene Tree for ABCD1 (if available)

Paralogs for ABCD1 Gene

Paralogs for ABCD1 Gene

Selected SIMAP similar genes for ABCD1 Gene using alignment to 5 proteins:

Pseudogenes.org Pseudogenes for ABCD1 Gene

genes like me logo Genes that share paralogs with ABCD1: view

Variants for ABCD1 Gene

Sequence variations from dbSNP and Humsavar for ABCD1 Gene

SNP ID Clin Chr 0X pos Sequence Context AA Info Type MAF
rs11803 -- 153,744,612(-) CCCCT(A/G)GTGAC utr-variant-3-prime
rs1055842 -- 153,744,449(+) AGCCT(C/T)TGAGT utr-variant-3-prime
rs1055847 -- 153,744,629(+) TCTGC(A/G)GAGCC utr-variant-3-prime
rs1055848 -- 153,744,658(+) ACCCC(A/C)CCGCC utr-variant-3-prime
rs2071120 -- 153,739,999(+) GGCCT(C/T)GGGCA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for ABCD1 Gene

Variant ID Type Subtype PubMed ID
esv33199 CNV Gain+Loss 17666407
esv21656 CNV Gain+Loss 19812545

Relevant External Links for ABCD1 Gene

HapMap Linkage Disequilibrium report
ABCD1
Human Gene Mutation Database (HGMD)
ABCD1
Locus Specific Mutation Databases (LSDB)
ABCD1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ABCD1 Gene

Disorders for ABCD1 Gene

(1) OMIM Diseases for ABCD1 Gene (300371)

UniProtKB/Swiss-Prot

ABCD1_HUMAN
  • Adrenoleukodystrophy (ALD) [MIM:300100]: A peroxisomal metabolic disorder characterized by progressive multifocal demyelination of the central nervous system and by peripheral adrenal insufficiency (Addison disease). It results in mental deterioration, corticospinal tract dysfunction, and cortical blindness. Different clinical manifestations exist like: cerebral childhood ALD (CALD), adult cerebral ALD (ACALD), adrenomyeloneuropathy (AMN) and Addison disease only (ADO) phenotype. {ECO:0000269 PubMed:10369742, ECO:0000269 PubMed:10480364, ECO:0000269 PubMed:10737980, ECO:0000269 PubMed:10980539, ECO:0000269 PubMed:11438993, ECO:0000269 PubMed:11810273, ECO:0000269 PubMed:15643618, ECO:0000269 PubMed:21700483, ECO:0000269 PubMed:21889498, ECO:0000269 PubMed:7581394, ECO:0000269 PubMed:7717396, ECO:0000269 PubMed:7825602, ECO:0000269 PubMed:7849723, ECO:0000269 PubMed:7904210, ECO:0000269 PubMed:8040304, ECO:0000269 PubMed:8566952, ECO:0000269 PubMed:8651290, ECO:0000269 PubMed:9452087}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Note=The promoter region of ABCD1 is deleted in the chromosome Xq28 deletion syndrome which involves ABCD1 and the neighboring gene BCAP31. {ECO:0000269 PubMed:11992258}.

(2) University of Copenhagen DISEASES for ABCD1 Gene

(9) Novoseek inferred disease relationships for ABCD1 Gene

Disease -log(P) Hits PubMed IDs
adrenoleukodystrophy 98.7 120
peroxisomal disorders 91.4 8
demyelination 72.4 7
demyelinating diseases 68.2 10
adrenal dysfunction 60.4 1

Relevant External Links for ABCD1

GeneTests
ABCD1
GeneReviews
ABCD1
Genetic Association Database (GAD)
ABCD1
Human Genome Epidemiology (HuGE) Navigator
ABCD1
genes like me logo Genes that share disorders with ABCD1: view

Publications for ABCD1 Gene

  1. Mutational analysis of patients with X-linked adrenoleukodystrophy. (PMID: 7581394) Kok F. … Smith K.D. (Hum. Mutat. 1995) 3 4 23
  2. Spectrum of mutations in the gene encoding the adrenoleukodystrophy protein. (PMID: 7825602) Ligtenberg M.J.L. … Bolhuis P.A. (Am. J. Hum. Genet. 1995) 3 4 23
  3. Mutational and protein analysis of patients and heterozygous women with X-linked adrenoleukodystrophy. (PMID: 8651290) Feigenbaum V. … Aubourg P. (Am. J. Hum. Genet. 1996) 3 4 23
  4. Mutations in the adrenoleukodystrophy gene. (PMID: 9195223) Dodd A. … Love D.R. (Hum. Mutat. 1997) 3 4 23
  5. Mutations in the gene for X-linked adrenoleukodystrophy in patients with different clinical phenotypes. (PMID: 7717396) Braun A. … Roscher A.A. (Am. J. Hum. Genet. 1995) 3 4 23

Products for ABCD1 Gene

Sources for ABCD1 Gene

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