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

    Gene ID: 11666, updated on 9-Dec-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

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

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

    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 fatty-acyl-CoA transporter activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables ADP binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables ADP binding ISS
    Inferred from Sequence or Structural Similarity
    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 binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables ATP hydrolysis activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables ATP hydrolysis activity ISS
    Inferred from Sequence or Structural Similarity
    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 ATPase-coupled transmembrane transporter activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables enzyme binding IEA
    Inferred from Electronic Annotation
    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 fatty acyl-CoA hydrolase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables identical protein binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables long-chain fatty acid transmembrane transporter activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables long-chain fatty acid transmembrane transporter activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables long-chain fatty acid transmembrane transporter activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein heterodimerization activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein heterodimerization activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables protein homodimerization activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein homodimerization activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables very long-chain fatty acyl-CoA hydrolase activity IEA
    Inferred from Electronic Annotation
    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 beta-oxidation ISS
    Inferred from Sequence or Structural Similarity
    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 fatty-acyl-CoA transport IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in long-chain fatty acid catabolic process ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in long-chain fatty acid catabolic process ISS
    Inferred from Sequence or Structural Similarity
    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 long-chain fatty acid import into peroxisome ISS
    Inferred from Sequence or Structural Similarity
    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 IEA
    Inferred from Electronic Annotation
    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 fatty acid beta-oxidation ISS
    Inferred from Sequence or Structural Similarity
    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 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 acid metabolic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in very long-chain fatty-acyl-CoA catabolic process ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in very long-chain fatty-acyl-CoA catabolic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    located_in cytoplasm ISO
    Inferred from Sequence Orthology
    more info
     
    located_in endoplasmic reticulum membrane ISO
    Inferred from Sequence Orthology
    more info
     
    located_in endoplasmic reticulum membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in lysosomal membrane ISO
    Inferred from Sequence Orthology
    more info
     
    located_in lysosomal membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in mitochondrial membrane ISO
    Inferred from Sequence Orthology
    more info
     
    located_in mitochondrial membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in mitochondrion HDA PubMed 
    located_in perinuclear region of cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    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)

    NEW Try the new Transcript table

    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)