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Abcd1 ATP-binding cassette, sub-family D member 1 [ Mus musculus (house mouse) ]

Gene ID: 11666, updated on 8-Feb-2024

Summary

Official Symbol
Abcd1provided by MGI
Official Full Name
ATP-binding cassette, sub-family D member 1provided by MGI
Primary source
MGI:MGI:1349215
See related
Ensembl:ENSMUSG00000031378 AllianceGenome:MGI:1349215
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
Ald; ALDP; Aldgh
Summary
The membrane-associated 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 the human 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]
Expression
Ubiquitous expression in duodenum adult (RPKM 45.9), small intestine adult (RPKM 33.3) and 28 other tissues See more
Orthologs
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Genomic context

See Abcd1 in Genome Data Viewer
Location:
X A7.3; X 37.39 cM
Exon count:
10
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) X NC_000086.8 (72760203..72782140)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) X NC_000086.7 (73716597..73738534)

Chromosome X - NC_000086.8Genomic Context describing neighboring genes Neighboring gene pregnancy upregulated non-ubiquitously expressed CaM kinase Neighboring gene STARR-seq mESC enhancer starr_47348 Neighboring gene predicted gene, 32261 Neighboring gene STARR-seq mESC enhancer starr_47349 Neighboring gene solute carrier family 6 (neurotransmitter transporter, creatine), member 8 Neighboring gene B cell receptor associated protein 31 Neighboring gene STARR-positive B cell enhancer ABC_E11048 Neighboring gene STARR-seq mESC enhancer starr_47353 Neighboring gene predicted gene, 25226 Neighboring gene plexin B3

Genomic regions, transcripts, and products

Expression

  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Targeted (4)  1 citation
  • Endonuclease-mediated (3) 

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables ABC-type fatty-acyl-CoA transporter activity ISO
Inferred from Sequence Orthology
more info
 
enables ABC-type transporter activity IEA
Inferred from Electronic Annotation
more info
 
enables ADP binding ISO
Inferred from Sequence Orthology
more info
 
enables ATP binding IBA
Inferred from Biological aspect of Ancestor
more info
 
enables ATP binding ISO
Inferred from Sequence Orthology
more info
 
enables ATP hydrolysis activity ISO
Inferred from Sequence Orthology
more info
 
enables ATPase-coupled transmembrane transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
 
enables ATPase-coupled transmembrane transporter activity ISO
Inferred from Sequence Orthology
more info
 
enables enzyme binding ISO
Inferred from Sequence Orthology
more info
 
enables fatty acyl-CoA hydrolase activity ISO
Inferred from Sequence Orthology
more info
 
enables hydrolase activity IEA
Inferred from Electronic Annotation
more info
 
enables identical protein binding ISO
Inferred from Sequence Orthology
more info
 
enables long-chain fatty acid transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
 
enables long-chain fatty acid transporter activity ISO
Inferred from Sequence Orthology
more info
 
enables nucleotide binding IEA
Inferred from Electronic Annotation
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein heterodimerization activity ISO
Inferred from Sequence Orthology
more info
 
enables protein homodimerization activity ISO
Inferred from Sequence Orthology
more info
 
Process Evidence Code Pubs
involved_in fatty acid beta-oxidation IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in fatty acid beta-oxidation IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in fatty acid beta-oxidation ISO
Inferred from Sequence Orthology
more info
 
involved_in fatty acid elongation IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in fatty acid homeostasis IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in long-chain fatty acid catabolic process ISO
Inferred from Sequence Orthology
more info
 
involved_in long-chain fatty acid import into peroxisome IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in long-chain fatty acid import into peroxisome ISO
Inferred from Sequence Orthology
more info
 
involved_in myelin maintenance IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in negative regulation of cytokine production involved in inflammatory response IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in negative regulation of reactive oxygen species biosynthetic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in neuron projection maintenance IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in peroxisome organization IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in peroxisome organization ISO
Inferred from Sequence Orthology
more info
 
involved_in positive regulation of fatty acid beta-oxidation IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of fatty acid beta-oxidation ISO
Inferred from Sequence Orthology
more info
 
involved_in positive regulation of unsaturated fatty acid biosynthetic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in regulation of cellular response to oxidative stress IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in regulation of fatty acid beta-oxidation IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in regulation of mitochondrial depolarization IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in regulation of oxidative phosphorylation IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in sterol homeostasis IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
involved_in very long-chain fatty acid catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in very long-chain fatty acid catabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in very long-chain fatty acid catabolic process ISO
Inferred from Sequence Orthology
more info
 
involved_in very long-chain fatty acid metabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in very long-chain fatty acid metabolic process ISO
Inferred from Sequence Orthology
more info
 
involved_in very long-chain fatty-acyl-CoA catabolic process ISO
Inferred from Sequence Orthology
more info
 
Component Evidence Code Pubs
located_in cytoplasm ISO
Inferred from Sequence Orthology
more info
 
located_in endoplasmic reticulum IEA
Inferred from Electronic Annotation
more info
 
located_in endoplasmic reticulum membrane ISO
Inferred from Sequence Orthology
more info
 
located_in lysosomal membrane ISO
Inferred from Sequence Orthology
more info
 
located_in lysosome IEA
Inferred from Electronic Annotation
more info
 
located_in membrane IEA
Inferred from Electronic Annotation
more info
 
located_in mitochondrial membrane ISO
Inferred from Sequence Orthology
more info
 
located_in mitochondrion HDA PubMed 
located_in perinuclear region of cytoplasm ISO
Inferred from Sequence Orthology
more info
 
is_active_in peroxisomal membrane IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in peroxisomal membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in peroxisomal membrane ISO
Inferred from Sequence Orthology
more info
 
located_in peroxisome ISO
Inferred from Sequence Orthology
more info
 

General protein information

Preferred Names
ATP-binding cassette sub-family D member 1
Names
ATP-binding cassette, sub-family D (ALD), member 1
X-linked adrenoleukodystrophy (ALD) gene homolog
adrenoleukodystrophy protein
NP_031461.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_007435.2NP_031461.1  ATP-binding cassette sub-family D member 1

    See identical proteins and their annotated locations for NP_031461.1

    Status: REVIEWED

    Source sequence(s)
    AL805924, BC079840
    Consensus CDS
    CCDS30210.1
    UniProtKB/Swiss-Prot
    P48410, Q9QY41, Q9QZ32
    Related
    ENSMUSP00000002084.8, ENSMUST00000002084.14
    Conserved Domains (3) summary
    cd03223
    Location:474679
    ABCD_peroxisomal_ALDP; ATP-binding cassette domain of peroxisomal transporter, subfamily D
    TIGR00954
    Location:1681
    3a01203; Peroxysomal Fatty Acyl CoA Transporter (FAT) Family protein
    pfam06472
    Location:83352
    ABC_membrane_2; ABC transporter transmembrane region 2

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000086.8 Reference GRCm39 C57BL/6J

    Range
    72760203..72782140
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)