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Aliases for ABCD1 Gene

Aliases for ABCD1 Gene

  • ATP Binding Cassette Subfamily D Member 1 2 3 5
  • ATP-Binding Cassette, Sub-Family D (ALD), Member 1 2 3
  • Adrenoleukodystrophy Protein 3 4
  • ALDP 3 4
  • ALD 3 4
  • ATP-Binding Cassette Sub-Family D Member 1 3
  • ABC42 3
  • AMN 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 Subfamily D Member 1) is a Protein Coding gene. Diseases associated with ABCD1 include Adrenoleukodystrophy and Addison's Disease. Among its related pathways are Metabolism and Peroxisome. GO annotations related to this gene include protein homodimerization activity and enzyme binding. An important paralog of this gene is ABCD2.

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

Enhancers for ABCD1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH0XF153683 1.2 Ensembl ENCODE 16.7 -38.8 -38843 4.7 TBP ATF1 CBX3 NFXL1 RAD21 ZNF2 GLIS2 CBX5 ZNF366 CREM PNCK ABCD1 SLC6A8 PDZD4 RN7SL687P
GH0XF154038 1.5 FANTOM5 Ensembl ENCODE 7.4 +318.5 318453 9.2 ZNF133 FEZF1 RAD21 ZNF121 GATA2 SCRT2 FOS EGR2 CEBPB NR2F2 TMEM187 HCFC1 MIR718 HCFC1-AS1 PLXNA3 IKBKG ABCD1 DNASE1L1 MECP2 FAM50A
GH0XF153886 0.9 FANTOM5 ENCODE 12.1 +162.1 162117 1.3 ZNF263 KLF1 MAZ ZIC2 GATA3 GATA2 ZBTB48 IKZF1 EZH2 EGR2 RENBP TMEM187 PDZD4 IDH3G SSR4 SRPK3 PLXNB3 ARHGAP4 NAA10 ABCD1
GH0XF153730 1.3 FANTOM5 Ensembl ENCODE 7 +6.8 6809 2.8 SOX13 GATAD2A SOX5 CBX3 IRF2 SAP130 HLF JUNB CEBPB CEBPG PNCK LOC102723591 PLXNB3 SLC6A8 ABCD1 MECP2 TMEM187 IKBKG ARHGAP4 IRAK1
GH0XF153844 0.6 ENCODE 12 +120.8 120829 1.8 ZNF316 PBX2 MAFG EMSY MAFK SSR4 IDH3G SRPK3 PLXNB3 L1CAM ABCD1 BCAP31 FAM3A CYCSP45 GC0XM153869
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ABCD1 on UCSC Golden Path with GeneCards custom track

Promoters for ABCD1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001738746 149 5201 PKNOX1 CREB3L1 ARID4B SIN3A DMAP1 ZNF263 SP3 SP5 MXD4 REST

Genomic Location for ABCD1 Gene

Chromosome:
X
Start:
153,724,851 bp from pter
End:
153,744,762 bp from pter
Size:
19,912 bases
Orientation:
Plus strand

Genomic View for ABCD1 Gene

Genes around ABCD1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ABCD1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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

Post-translational modifications for ABCD1 Gene

Other Protein References for ABCD1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for ABCD1 Gene

Domains & Families for ABCD1 Gene

Gene Families for ABCD1 Gene

Graphical View of Domain Structure for InterPro Entry

P33897

UniProtKB/Swiss-Prot:

ABCD1_HUMAN :
  • Contains 1 ABC transmembrane type-1 domain.
  • Belongs to the ABC transporter superfamily. ABCD family. Peroxisomal fatty acyl CoA transporter (TC 3.A.1.203) subfamily.
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:0005324 long-chain fatty acid transporter activity TAS --
GO:0005325 peroxisomal fatty-acyl-CoA transporter activity TAS --
GO:0005515 protein binding IPI 10551832
GO:0005524 ATP binding IEA,IDA 11248239
genes like me logo Genes that share ontologies with ABCD1: view
genes like me logo Genes that share phenotypes with ABCD1: view

Human Phenotype Ontology for ABCD1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for ABCD1 Gene

MGI Knock Outs for ABCD1:

Animal Model Products

miRNA for ABCD1 Gene

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ABCD1 gene
Compartment Confidence
peroxisome 5
cytosol 5
plasma membrane 3
mitochondrion 3
nucleus 2
endoplasmic reticulum 1
golgi apparatus 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 9425230
GO:0005778 peroxisomal membrane IEA,TAS --
GO:0005779 integral component of peroxisomal membrane NAS 8441467
genes like me logo Genes that share ontologies with ABCD1: view

Pathways & Interactions for ABCD1 Gene

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

Gene Ontology (GO) - Biological Process for ABCD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006635 fatty acid beta-oxidation IEA,IGI 18757502
GO:0006810 transport IEA --
GO:0007031 peroxisome organization NAS 8441467
GO:0015910 peroxisomal long-chain fatty acid import IGI 18757502
GO:0015919 peroxisomal membrane transport NAS 8441467
genes like me logo Genes that share ontologies with ABCD1: view

No data available for SIGNOR curated interactions for ABCD1 Gene

Drugs & Compounds for ABCD1 Gene

(16) Drugs for ABCD1 Gene - From: ClinicalTrials and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Cholecalciferol Approved Nutra Fat-soluble secosteroids 851,845
Ergocalciferol Approved Nutra 1232
Bone Density Conservation Agents Pharma 3266
Ergocalciferols Pharma 1232
Micronutrients Pharma 5802

(7) Additional Compounds for ABCD1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
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:

Inhibitory RNA Products

Clone Products

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 from GTEx, Illumina, BioGPS, and SAGE for ABCD1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for ABCD1 Gene

This gene is overexpressed in Testis (22.2), Breast (20.3), and Adrenal (12.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ABCD1 Gene



Protein tissue co-expression partners for ABCD1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of ABCD1 Gene:

ABCD1

SOURCE GeneReport for Unigene cluster for ABCD1 Gene:

Hs.159546
genes like me logo Genes that share expression patterns with ABCD1: view

Primer 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 34
  • 98.8 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia ABCD1 35
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ABCD1 34 35
  • 90.05 (n)
cow
(Bos Taurus)
Mammalia ABCD1 34 35
  • 88.48 (n)
mouse
(Mus musculus)
Mammalia Abcd1 34 16 35
  • 86.61 (n)
rat
(Rattus norvegicus)
Mammalia Abcd1 34
  • 86.48 (n)
oppossum
(Monodelphis domestica)
Mammalia ABCD1 35
  • 80 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ABCD1 35
  • 72 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia abcd1 34
  • 70.39 (n)
zebrafish
(Danio rerio)
Actinopterygii abcd1 34 35
  • 67.36 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG2316 36 35
  • 53 (a)
worm
(Caenorhabditis elegans)
Secernentea T02D1.5 36
  • 56 (a)
pmp-4 35
  • 51 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PXA1 35
  • 26 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 59 (a)
OneToMany
bread mold
(Neurospora crassa)
Ascomycetes NCU01751 34
  • 54.77 (n)
Species where no ortholog for ABCD1 was found in the sources mined by GeneCards:
  • 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

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

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
rs11146842 Adrenoleukodystrophy (ALD) [MIM:300100], Pathogenic 153,743,056(+) GGCCC(A/G)CATGT nc-transcript-variant, reference, missense
rs128624213 Adrenoleukodystrophy (ALD) [MIM:300100], Pathogenic 153,726,137(+) ACTCG(A/G)AGGAG nc-transcript-variant, upstream-variant-2KB, reference, missense
rs128624214 Adrenoleukodystrophy (ALD) [MIM:300100], Pathogenic 153,737,214(+) CACGC(C/G)CTCAG nc-transcript-variant, reference, missense
rs128624215 Adrenoleukodystrophy (ALD) [MIM:300100], Pathogenic 153,736,195(+) TTGCC(C/G/T)GCAAC nc-transcript-variant, reference, missense
rs128624216 Adrenoleukodystrophy (ALD) [MIM:300100], Pathogenic 153,725,709(+) CGTCA(A/G)CAGTG nc-transcript-variant, upstream-variant-2KB, reference, missense

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

Variant ID Type Subtype PubMed ID
esv21656 CNV gain+loss 19812545
esv33199 CNV gain+loss 17666407
nsv1129105 CNV duplication 24896259
nsv1141717 CNV duplication 24896259

Variation tolerance for ABCD1 Gene

Residual Variation Intolerance Score: 24.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.77; 16.31% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ABCD1 Gene

Human Gene Mutation Database (HGMD)
ABCD1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ABCD1

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

Disorders for ABCD1 Gene

MalaCards: The human disease database

(10) MalaCards diseases for ABCD1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
adrenoleukodystrophy
  • adrenomyeloneuropathy, adult
addison's disease
  • addison disease
adrenomyeloneuropathy
  • adrenoleukodystrophy
chromosome xq28 deletion syndrome
  • x chromosome, monosomy xq28
deafness, dystonia, and cerebral hypomyelination
  • cadds
- elite association - COSMIC cancer census association via MalaCards
Search ABCD1 in MalaCards View complete list of genes associated with diseases

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:23651979, ECO:0000269 PubMed:26686776, 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}.

Relevant External Links for ABCD1

Genetic Association Database (GAD)
ABCD1
Human Genome Epidemiology (HuGE) Navigator
ABCD1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ABCD1
genes like me logo Genes that share disorders with ABCD1: view

No data available for Genatlas for ABCD1 Gene

Publications for ABCD1 Gene

  1. Identification of seven novel mutations in ABCD1 by a DHPLC-based assay in Italian patients with X-linked adrenoleukodystrophy. (PMID: 15643618) Montagna G. … Santorelli F.M. (Hum. Mutat. 2005) 3 4 22 64
  2. Contiguous deletion of the X-linked adrenoleukodystrophy gene (ABCD1) and DXS1357E: a novel neonatal phenotype similar to peroxisomal biogenesis disorders. (PMID: 11992258) Corzo D. … Steinberg S.J. (Am. J. Hum. Genet. 2002) 3 4 22 64
  3. Eight novel ABCD1 gene mutations and three polymorphisms in patients with X-linked adrenoleukodystrophy: the first polymorphism causing an amino acid exchange. (PMID: 11438993) Dvorakova L. … Berger J. (Hum. Mutat. 2001) 3 4 22 64
  4. ABCD1 mutations and the X-linked adrenoleukodystrophy mutation database: role in diagnosis and clinical correlations. (PMID: 11748843) Kemp S. … Moser H.W. (Hum. Mutat. 2001) 3 4 22 64
  5. Characterization and functional analysis of the nucleotide binding fold in human peroxisomal ATP binding cassette transporters. (PMID: 11248239) Roerig P. … Gaertner J. (FEBS Lett. 2001) 3 4 22 64

Products for ABCD1 Gene

Sources for ABCD1 Gene

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