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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 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]
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.
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 |
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 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Regulation of activated PAK-2p34 by proteasome mediated degradation |
.31
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2 | alpha-linolenic (omega3) and linoleic (omega6) acid metabolism | ||
3 | Peroxisomal lipid metabolism | ||
4 | Metabolism |
.40
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|
5 | Peroxisome |
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 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
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ExUns: | 1a | · | 1b | ^ | 2a | · | 2b | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10a | · | 10b | ^ | 11 | ^ | 12 | ^ | 13 | ^ | 14a | · | 14b |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | ||||||||||||||||||||||||||||||||
SP2: | |||||||||||||||||||||||||||||||||||
SP3: | - | ||||||||||||||||||||||||||||||||||
SP4: | - | - | |||||||||||||||||||||||||||||||||
SP5: |
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 |
|
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 |
Disorder | Aliases | PubMed IDs |
---|---|---|
adrenoleukodystrophy |
|
|
hypoadrenocorticism, familial |
|
|
deafness, dystonia, and cerebral hypomyelination |
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|
adrenomyeloneuropathy |
|
|
peroxisomal disease |
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