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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... See more...
Aliases for ABCD1 Gene
Aliases for ABCD1 Gene
External Ids for ABCD1 Gene
- HGNC: 61
- Entrez Gene: 215
- Ensembl: ENSG00000101986
- OMIM: 300371
- UniProtKB: P33897
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
-
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 Hypoadrenocorticism, Familial. Among its related pathways are alpha-linolenic (omega3) and linoleic (omega6) acid metabolism and Regulation of activated PAK-2p34 by proteasome mediated degradation. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and enzyme binding. An important paralog of this gene is ABCD2.
UniProtKB/Swiss-Prot Summary for ABCD1 Gene
-
Plays a role in the transport of free very-long-chain fatty acids (VLCFAs) as well as their CoA-esters across the peroxisomal membrane by acting as an ATP-specific binding subunit releasing ADP after ATP hydrolysis (PubMed:15682271, PubMed:11248239, PubMed:16946495, PubMed:18757502). 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: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. Controls also the cellular response to oxidative stress by regulating mitochondrial function like, mitochondrial oxidative phosphorylation and depolarization. And finally controls the inflammatory response by positively regulating peroxisomal beta-oxidation of VLCFAs (By similarity).
Additional gene information for ABCD1 Gene
- HGNC(61)
- Entrez Gene(215)
- Ensembl(ENSG00000101986)
- OMIM(300371)
- UniProtKB(P33897)
- Open Targets Platform(ENSG00000101986)
- Monarch Initiative
- Search for ABCD1 at DataMed
- Search for ABCD1 at HumanCyc
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ABCD1 Gene
Genomics for ABCD1 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for ABCD1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around ABCD1 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ABCD1
- Top Transcription factor binding sites by QIAGEN in the ABCD1 gene promoter:
-
- AML1a
- AP-1
- ATF-2
- c-Jun
- ISGF-3
- MAZR
- NRF-2
- p53
- SRF
- SRF (504 AA)
Genomic Locations for ABCD1 Gene
Genomic Locations for ABCD1 Gene
- chrX:153,724,851-153,744,755
- (GRCh38/hg38)
- Size:
- 19,905 bases
- Orientation:
- Plus strand
- chrX:152,990,323-153,010,216
- (GRCh37/hg19)
- Size:
- 19,894 bases
- Orientation:
- Plus strand
Genomic View for ABCD1 Gene
Genes around ABCD1 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- Xq28 by HGNC
- Xq28 by Entrez Gene
- Xq28 by Ensembl
ABCD1 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- Q6GTZ2
Protein attributes for ABCD1 Gene
- Size:
- 745 amino acids
- Molecular mass:
- 82937 Da
- Quaternary structure:
-
- Can form homooligomers, homodimers and heterodimers with ABCD2/ALDR and ABCD3/PMP70. Dimerization is necessary to form an active transporter (PubMed:17609205, PubMed:10551832). Interacts with PEX19; facilitates ABCD1 insertion into the peroxisome membrane (PubMed:10777694, PubMed:10704444).
Protein Expression for ABCD1 Gene
Post-translational modifications for ABCD1 Gene
Other Protein References for ABCD1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- LifeSpan BioSciences ALDP / ABCD1 Antibody (LS-B7120) and ALDP / ABCD1 Antibody (LS-B14888)
- G Biosciences Immunotag™ ABCD1 Antibody
- NSJ Bioreagents ABCD1 Antibody
- Novus Biologicals Antibodies for ABCD1
- Invitrogen Antibodies for ABCD1 (AFLGC-ABCD1)
-
Boster Bio Antibodies for ABCD1
- Sino Biological Antibodies for ABCD1
Protein Products
- Search Origene for MassSpec and Protein Over-expression Lysates for ABCD1
- Origene Custom Protein Services for ABCD1
-
Signalway Proteins for ABCD1
-
Abcam proteins for ABCD1
Assay Products
- antibodies-online: Show 8 available ABCD1 Elisa Kits ranked by validation data
- Compare Top ABCD1 Elisa Kits
-
Quality Products:
No data available for DME Specific Peptides for ABCD1 Gene
Domains & Families for ABCD1 Gene
Gene Families for ABCD1 Gene
- HGNC:
- IUPHAR :
- Human Protein Atlas (HPA):
-
- Disease related genes
- Potential drug targets
- Predicted membrane proteins
- Transporters
Protein Domains for ABCD1 Gene
- InterPro:
- Blocks:
-
- ABC transporter, N-terminal
- ProtoNet:
Suggested Antigen Peptide Sequences for ABCD1 Gene
- GenScript: Design optimal peptide antigens:
-
- Adrenoleukodystrophy protein (ABCD1_HUMAN)
- Mutant ATP-binding cassette sub-family D member 1 (Q2PRN6_HUMAN)
- Mutant adrenoleukodystrophy protein (Q6TGM0_HUMAN)
- Mutant adrenoleukodystrophy protein (Q6TGM1_HUMAN)
- Mutant adrenoleukodystrophy protein (Q6TGM2_HUMAN)
Graphical View of Domain Structure for InterPro Entry
P33897UniProtKB/Swiss-Prot:
ABCD1_HUMAN :- The NH2-terminal transmembrane domaine (TMD) is involved in the recognition of substrates, and undergoes a conformational change upon ATP binding to the COOH-terminal nucleotide binding domain (NBD).
- Belongs to the ABC transporter superfamily. ABCD family. Peroxisomal fatty acyl CoA transporter (TC 3.A.1.203) subfamily.
- Domain:
-
- The NH2-terminal transmembrane domaine (TMD) is involved in the recognition of substrates, and undergoes a conformational change upon ATP binding to the COOH-terminal nucleotide binding domain (NBD).
- Family:
-
- Belongs to the ABC transporter superfamily. ABCD family. Peroxisomal fatty acyl CoA transporter (TC 3.A.1.203) subfamily.
Function for ABCD1 Gene
Molecular function for ABCD1 Gene
- UniProtKB/Swiss-Prot Function:
- Plays a role in the transport of free very-long-chain fatty acids (VLCFAs) as well as their CoA-esters across the peroxisomal membrane by acting as an ATP-specific binding subunit releasing ADP after ATP hydrolysis (PubMed:15682271, PubMed:11248239, PubMed:16946495, PubMed:18757502). 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: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. Controls also the cellular response to oxidative stress by regulating mitochondrial function like, mitochondrial oxidative phosphorylation and depolarization. And finally controls the inflammatory response by positively regulating peroxisomal beta-oxidation of VLCFAs (By similarity).
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=an acyl-CoA(out) + ATP + H2O = ADP + an acyl-CoA(in) + H(+) + phosphate; Xref=Rhea:RHEA:15181, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:43474, ChEBI:CHEBI:58342, ChEBI:CHEBI:456216; EC=7.6.2.4; Evidence={ECO:0000269|PubMed:11248239, ECO:0000269|PubMed:15682271, ECO:0000269|PubMed:16946495};.
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=(9Z)-octadecenoyl-CoA(in) = (9Z)-octadecenoyl-CoA(out); Xref=Rhea:RHEA:45956, ChEBI:CHEBI:57387; Evidence={ECO:0000269|PubMed:18757502};.
- UniProtKB/Swiss-Prot Induction:
- Up-regulated by degradation or export of cholesterol.
- 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
Enzyme Numbers (IUBMB) for ABCD1 Gene
Phenotypes From GWAS Catalog for ABCD1 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000166 | nucleotide binding | IEA | -- |
| GO:0005324 | long-chain fatty acid transporter activity | EXP,IGI | 18757502 |
| GO:0005515 | protein binding | IPI | 10551832 |
| GO:0005524 | ATP binding | IEA,IDA | 11248239 |
| GO:0015607 | fatty-acyl-CoA transmembrane transporter activity | IGI | 18757502 |
Phenotypes for ABCD1 Gene
- MGI mutant phenotypes for ABCD1:
- inferred from 4 alleles
- GenomeRNAi human phenotypes for ABCD1:
Animal Models for ABCD1 Gene
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for ABCD1 - Select products 50% OFF >
- * ABCD1 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for ABCD1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for ABCD1
-
Santa Cruz Biotechnology (SCBT) CRISPR for ABCD1
miRNA for ABCD1 Gene
- miRTarBase miRNAs that target ABCD1
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for ABCD1
- Browse OriGene Inhibitory RNA Products For ABCD1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ABCD1
Clone Products
- Applied Biological Materials (abm): Clones for ABCD1 - Select products 50% OFF >
- * ABCD1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for ABCD1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for ABCD1
No data available for 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. Mitochondrion membrane. Multi-pass membrane protein. Lysosome membrane. Multi-pass membrane protein. Endoplasmic reticulum membrane. Multi-pass membrane protein.
| Compartment | Confidence |
|---|---|
| mitochondrion | 5 |
| peroxisome | 5 |
| endoplasmic reticulum | 5 |
| cytosol | 5 |
| lysosome | 5 |
| plasma membrane | 3 |
| nucleus | 2 |
| extracellular | 1 |
| cytoskeleton | 1 |
| endosome | 1 |
| golgi apparatus | 1 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005737 | cytoplasm | IDA | 17761426 |
| GO:0005739 | mitochondrion | IEA | -- |
| GO:0005764 | lysosome | IEA | -- |
| GO:0005765 | lysosomal membrane | IEA,IDA | 16946495 |
| GO:0005777 | peroxisome | IDA | 9425230 |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for ABCD1 Gene
Pathways & Interactions for ABCD1 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Regulation of activated PAK-2p34 by proteasome mediated degradation |
.31
|
|
| 2 | alpha-linolenic (omega3) and linoleic (omega6) acid metabolism | ||
| 3 | Peroxisomal lipid metabolism | ||
| 4 | Metabolism |
.40
|
|
| 5 | Peroxisome | ||
Pathways by source for ABCD1 Gene
2 KEGG pathways for ABCD1 Gene
Interacting Proteins for ABCD1 Gene
Selected Interacting proteins:
P33897-ABCD1_HUMAN
ENSP00000218104
for ABCD1 Gene via
UniProtKB
MINT
STRING
IID
GPS-Prot Interaction Network for ABCD1
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000038 | very long-chain fatty acid metabolic process | IEA | -- |
| GO:0002082 | regulation of oxidative phosphorylation | IEA,ISS | -- |
| GO:0006635 | fatty acid beta-oxidation | IEA,IMP | 23671276 |
| GO:0007031 | peroxisome organization | NAS | 8441467 |
| GO:0015910 | peroxisomal long-chain fatty acid import | IGI | 18757502 |
No data available for SIGNOR curated interactions for ABCD1 Gene
Drugs & Compounds for ABCD1 Gene
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
|---|
Transcripts for ABCD1 Gene
mRNA/cDNA for ABCD1 Gene
- 1 REFSEQ mRNAs :
- 6 NCBI additional mRNA sequence :
- 3 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000218104 3669 nts (view in UCSC)
- ENST00000370129 1016 nts (view in UCSC)
- ENST00000443684 668 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for ABCD1 - Select products 50% OFF >
- * ABCD1 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for ABCD1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for ABCD1
-
Santa Cruz Biotechnology (SCBT) CRISPR for ABCD1
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for ABCD1
- Browse OriGene Inhibitory RNA Products For ABCD1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ABCD1
Clone Products
- Applied Biological Materials (abm): Clones for ABCD1 - Select products 50% OFF >
- * ABCD1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for ABCD1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for ABCD1
| 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
Expression for ABCD1 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
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
- Elite partner
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ABCD1
SOURCE GeneReport for Unigene cluster for ABCD1 Gene:
Hs.159546Evidence on tissue expression from TISSUES for ABCD1 Gene
- Pancreas(4.6)
- Nervous system(4.5)
- Liver(4.4)
- Adrenal gland(3.1)
- Skin(2.6)
- Blood(2.3)
Phenotype-based relationships between genes and organs from Gene ORGANizer for ABCD1 Gene
Germ Layers:
- ectoderm
- endoderm
- mesoderm
Systems:
- digestive
- endocrine
- integumentary
- nervous
- reproductive
- skeletal muscle
- skeleton
- urinary
Regions:
Head and neck:
- brain
- cerebellum
- cranial nerve
- ear
- eye
- face
- head
- jaw
- mandible
- maxilla
- mouth
- nose
- pituitary gland
- skull
- tongue
Thorax:
- breast
Abdomen:
- adrenal gland
- intestine
- large intestine
- small intestine
Pelvis:
- ovary
- penis
- prostate
- testicle
- urinary bladder
- uterus
- vagina
- vulva
Limb:
- lower limb
- upper limb
General:
- hair
- peripheral nerve
- peripheral nervous system
- skin
- spinal cord
Primer Products
-
OriGene qPCR primer pairs for ABCD1
Gene Expression 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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | ABCD1 30 |
|
||
| Platypus (Ornithorhynchus anatinus) |
Mammalia | ABCD1 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | ABCD1 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | ABCD1 30 31 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | Abcd1 30 17 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Abcd1 30 |
|
||
| Oppossum (Monodelphis domestica) |
Mammalia | ABCD1 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | ABCD1 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | abcd1 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | abcd1 30 31 |
|
OneToOne | |
| Fruit Fly (Drosophila melanogaster) |
Insecta | CG2316 31 32 |
|
OneToMany | |
| Worm (Caenorhabditis elegans) |
Secernentea | T02D1.5 32 |
|
|
|
| pmp-4 31 |
|
OneToMany | |||
| Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | PXA1 31 |
|
OneToMany | |
| Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany | |
| Bread mold (Neurospora crassa) |
Ascomycetes | NCU01751 30 |
|
- Species where no ortholog for ABCD1 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
- 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)
- Aminode:
- Evolutionary constrained regions (ECRs) for ABCD1: view image
Paralogs for ABCD1 Gene
(5) SIMAP similar genes for ABCD1 Gene using alignment to 5 proteins:
- ABCD1_HUMAN
- A6NEP8_HUMAN
- H0Y7L9_HUMAN
- L8E9C7_HUMAN
- Q2PRN6_HUMAN
Pseudogenes.org Pseudogenes for ABCD1 Gene
Variants for ABCD1 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ABCD1 Gene
| SNP ID | Clinical significance and condition | Chr 0X pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 625214 | Likely Pathogenic: Intellectual disability | 153,726,120(+) | G/A | MISSENSE_VARIANT | |
| 635562 | Pathogenic: Adrenoleukodystrophy | 153,740,228(+) | TC/T | FRAMESHIFT_VARIANT | |
| 639983 | Uncertain Significance: Adrenoleukodystrophy | 153,725,474(+) | G/A | MISSENSE_VARIANT | |
| 640330 | Pathogenic: Adrenoleukodystrophy | 153,736,130(+) | A/AGGCAGCCT | FRAMESHIFT_VARIANT | |
| 640760 | Uncertain Significance: Adrenoleukodystrophy | 153,743,685(+) | C/T | MISSENSE_VARIANT |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| esv21656 | CNV | gain+loss | 19812545 |
| esv33199 | CNV | gain+loss | 17666407 |
| nsv1129105 | CNV | duplication | 24896259 |
| nsv1141717 | CNV | duplication | 24896259 |
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)
Additional Variant Information for ABCD1 Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ABCD1 Gene
Disorders for ABCD1 Gene
(22) MalaCards diseases for ABCD1 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| adrenoleukodystrophy |
|
|
| hypoadrenocorticism, familial |
|
|
| deafness, dystonia, and cerebral hypomyelination |
|
|
| adrenomyeloneuropathy |
|
|
| peroxisomal disease |
|
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:10551832, ECO:0000269 PubMed:10737980, ECO:0000269 PubMed:10980539, ECO:0000269 PubMed:11248239, 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}.
Additional Disease Information for ABCD1
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No data available for Genatlas for ABCD1 Gene
Publications for ABCD1 Gene
- The human peroxisomal ABC half transporter ALDP functions as a homodimer and accepts acyl-CoA esters. (PMID: 18757502) van Roermund CW … Wanders RJ (FASEB journal : official publication of the Federation of American Societies for Experimental Biology 2008) 3 4 23
- Live cell FRET microscopy: homo- and heterodimerization of two human peroxisomal ABC transporters, the adrenoleukodystrophy protein (ALDP, ABCD1) and PMP70 (ABCD3). (PMID: 17609205) Hillebrand M … Gärtner J (The Journal of biological chemistry 2007) 3 4 23
- ATP-binding and -hydrolysis activities of ALDP (ABCD1) and ALDRP (ABCD2), human peroxisomal ABC proteins, overexpressed in Sf21 cells. (PMID: 16946495) Morita M … Imanaka T (Biological & pharmaceutical bulletin 2006) 3 4 23
- Probing substrate-induced conformational alterations in adrenoleukodystrophy protein by proteolysis. (PMID: 15682271) Guimarães CP … Azevedo JE (Journal of human genetics 2005) 3 4 23
- Function of the PEX19-binding site of human adrenoleukodystrophy protein as targeting motif in man and yeast. PMP targeting is evolutionarily conserved. (PMID: 15781447) Halbach A … Rottensteiner H (The Journal of biological chemistry 2005) 3 4 23
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