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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 likely plays an important role in peroxisome biogenesis. Mutations have been associated with some forms of Zellweger syndrome, a heterogeneous group of peroxisome assembly disorders. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008]
ABCD3 (ATP Binding Cassette Subfamily D Member 3) is a Protein Coding gene. Diseases associated with ABCD3 include Bile Acid Synthesis Defect, Congenital, 5 and Zellweger Syndrome. Among its related pathways are Regulation of activated PAK-2p34 by proteasome mediated degradation and Nuclear Receptors in Lipid Metabolism and Toxicity. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and ATPase activity, coupled to transmembrane movement of substances. 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 | IEA | -- |
GO:0005515 | protein binding | IPI | 10551832 |
GO:0005524 | ATP binding | IDA | 11248239 |
GO:0016887 | ATPase activity | IDA | 11248239 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005739 | mitochondrion | IEA | -- |
GO:0005777 | peroxisome | IDA | 9425230 |
GO:0005778 | peroxisomal membrane | TAS | -- |
GO:0005782 | peroxisomal matrix | IDA | 9765053 |
GO:0005829 | cytosol | TAS | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006633 | fatty acid biosynthetic process | IMP | 25168382 |
GO:0006635 | fatty acid beta-oxidation | IGI | 9425230 |
GO:0007031 | peroxisome organization | IMP | 9765053 |
GO:0014070 | response to organic cyclic compound | IEA | -- |
GO:0015910 | peroxisomal long-chain fatty acid import | IEA | -- |
ExUns: | 1 | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9a | · | 9b | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13 | ^ | 14 | ^ | 15 | ^ | 16 | ^ | 17 | ^ | 18 | ^ | 19 | ^ | 20 | ^ | 21a | · | 21b | ^ | 22 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | |||||||||||||||||||||||||||||||||||||||||||||
SP2: | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||
SP3: | - | ||||||||||||||||||||||||||||||||||||||||||||||
SP4: |
This gene was present in the common ancestor of eukaryotes.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | ABCD3 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | ABCD3 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | ABCD3 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | ABCD3 30 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | ABCD3 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Abcd3 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Abcd3 30 17 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | ABCD3 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | ABCD3 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | abcd3 30 |
|
||
Str.14736 30 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | Xl.1498 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | abcd3b 31 |
|
OneToMany | |
abcd3a 30 31 |
|
OneToMany | |||
Dr.3614 30 |
|
||||
Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.4773 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | CG12703 32 |
|
|
|
Pmp70 30 31 |
|
OneToOne | |||
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP000440 30 |
|
||
Worm (Caenorhabditis elegans) |
Secernentea | pmp-2 30 31 |
|
OneToMany | |
C44B7.9 32 |
|
|
|||
C44B7.8 32 |
|
|
|||
pmp-1 31 |
|
OneToMany | |||
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | PXA1 31 |
|
OneToMany | |
Thale Cress (Arabidopsis thaliana) |
eudicotyledons | PXA1 30 |
|
||
Rice (Oryza sativa) |
Liliopsida | Os05g0107600 30 |
|
||
Os.28988 30 |
|
||||
Sea Vase (Ciona intestinalis) |
Ascidiacea | Cin.4944 30 |
|
SNP ID | Clinical significance and condition | Chr 01 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
187846 | Pathogenic: Bile acid synthesis defect, congenital, 5 | 94,516,478(+) | ACATTGAGAGGAATTG | SPLICE_ACCEPTOR_VARIANT | |
718421 | Benign: not provided | 94,464,782(+) | G/T | MISSENSE_VARIANT | |
732841 | Benign: not provided | 94,491,235(+) | C/T | SYNONYMOUS_VARIANT | |
761564 | Likely Benign: not provided | 94,480,580(+) | T/C | SYNONYMOUS_VARIANT | |
788078 | Benign: not provided | 94,480,455(+) | T/C | INTRON_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv1930968 | CNV | deletion | 18987734 |
esv2714951 | CNV | deletion | 23290073 |
esv2714962 | CNV | deletion | 23290073 |
esv2714973 | CNV | deletion | 23290073 |
esv3120 | CNV | loss | 18987735 |
esv3578013 | CNV | loss | 25503493 |
nsv1122378 | CNV | deletion | 24896259 |
nsv546851 | CNV | loss | 21841781 |
Disorder | Aliases | PubMed IDs |
---|---|---|
bile acid synthesis defect, congenital, 5 |
|
|
zellweger syndrome |
|
|
adrenoleukodystrophy |
|
|
congenital bile acid synthesis defect |
|
|
peroxisomal biogenesis disorder |
|
|