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    ABCD1 ATP-binding cassette, sub-family D (ALD), member 1 [ Homo sapiens (human) ]

    Gene ID: 215, updated on 5-Jul-2015
    Official Symbol
    ABCD1provided by HGNC
    Official Full Name
    ATP-binding cassette, sub-family D (ALD), member 1provided by HGNC
    Primary source
    HGNC:HGNC:61
    See related
    Ensembl:ENSG00000101986; HPRD:02300; MIM:300371; Vega:OTTHUMG00000024215
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    ALD; AMN; ALDP; ABC42
    Summary
    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]
    Orthologs
    See ABCD1 in Epigenomics, MapViewer
    Location:
    Xq28
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    107 current GRCh38.p2 (GCF_000001405.28) X NC_000023.11 (153724851..153744762)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (152990323..153010216)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene solute carrier family 6 (neurotransmitter transporter), member 8 Neighboring gene B-cell receptor-associated protein 31 Neighboring gene uncharacterized LOC102723591 Neighboring gene plexin B3 Neighboring gene SRSF protein kinase 3

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Adrenoleukodystrophy
    MedGen: C0162309 OMIM: 300100 GeneReviews: X-Linked Adrenoleukodystrophy
    Compare labs

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated (2012-04-26)

    ClinGen Genome Curation Page
    Haploinsufficency

    Sufficient evidence for dosage pathogenicity (Last evaluated (2012-04-26)

    ClinGen Genome Curation Page

    NHGRI GWAS Catalog

    Description
    A genome-wide meta-analysis identifies novel loci associated with schizophrenia and bipolar disorder.
    NHGRI GWA Catalog
    • ABC transporters, organism-specific biosystem (from KEGG)
      ABC transporters, organism-specific biosystemThe ATP-binding cassette (ABC) transporters form one of the largest known protein families, and are widespread in bacteria, archaea, and eukaryotes. They couple ATP hydrolysis to active transport of ...
    • ABC transporters, conserved biosystem (from KEGG)
      ABC transporters, conserved biosystemThe ATP-binding cassette (ABC) transporters form one of the largest known protein families, and are widespread in bacteria, archaea, and eukaryotes. They couple ATP hydrolysis to active transport of ...
    • ABC-family proteins mediated transport, organism-specific biosystem (from REACTOME)
      ABC-family proteins mediated transport, organism-specific biosystemThe ATP-binding cassette (ABC) superfamily of active transporters involves a large number of functionally diverse transmembrane proteins. They transport a variety of compounds through membranes agai...
    • ABCA transporters in lipid homeostasis, organism-specific biosystem (from REACTOME)
      ABCA transporters in lipid homeostasis, organism-specific biosystemA defined subset of the ABC transporter superfamily, the ABCA transporters, are highly expressed in monocytes and macrophages and are regulated by cholesterol flux which may indicate their role in in...
    • Beta-oxidation of very long chain fatty acids, organism-specific biosystem (from REACTOME)
      Beta-oxidation of very long chain fatty acids, organism-specific biosystemLinear fatty acids containing more than 18 carbons are broken down by beta-oxidation in peroxisomes to yield acetyl-CoA and medium chain-length fatty acyl CoA's such as octanoyl-CoA (Wanders and Wate...
    • Linoleic acid (LA) metabolism, organism-specific biosystem (from REACTOME)
      Linoleic acid (LA) metabolism, organism-specific biosystemLinoleic acid (LA, 18:2(n-6)) is an omega-6 fatty acid obtained through diet, mainly from vegetable oils. Omega-6 fatty acids helps stimulate skin and hair growth, maintain bone health, regulate meta...
    • Metabolism, organism-specific biosystem (from REACTOME)
      Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
    • Metabolism of lipids and lipoproteins, organism-specific biosystem (from REACTOME)
      Metabolism of lipids and lipoproteins, organism-specific biosystemLipids are hydrophobic but otherwise chemically diverse molecules that play a wide variety of roles in human biology. They include ketone bodies, fatty acids, triacylglycerols, phospholipids and sphi...
    • Peroxisomal lipid metabolism, organism-specific biosystem (from REACTOME)
      Peroxisomal lipid metabolism, organism-specific biosystemIn humans, the catabolism of phytanate, pristanate, and very long chain fatty acids as well as the first four steps of the biosynthesis of plasmalogens are catalyzed by peroxisomal enzymes. Defects i...
    • Peroxisome, organism-specific biosystem (from KEGG)
      Peroxisome, organism-specific biosystemPeroxisomes are essential organelles that play a key role in redox signalling and lipid homeostasis. They contribute to many crucial metabolic processes such as fatty acid oxidation, biosynthesis of ...
    • Peroxisome, conserved biosystem (from KEGG)
      Peroxisome, conserved biosystemPeroxisomes are essential organelles that play a key role in redox signalling and lipid homeostasis. They contribute to many crucial metabolic processes such as fatty acid oxidation, biosynthesis of ...
    • Transmembrane transport of small molecules, organism-specific biosystem (from REACTOME)
      Transmembrane transport of small molecules, organism-specific biosystem
      Transmembrane transport of small molecules
    • alpha-linolenic (omega3) and linoleic (omega6) acid metabolism, organism-specific biosystem (from REACTOME)
      alpha-linolenic (omega3) and linoleic (omega6) acid metabolism, organism-specific biosystemThere are two major classes of polyunsaturated fatty acids (PUFAs): the omega-3 (n-3) and the omega-6 (n-6) fatty acids, where the number corresponds to the position of the first double bond proximat...
    • alpha-linolenic acid (ALA) metabolism, organism-specific biosystem (from REACTOME)
      alpha-linolenic acid (ALA) metabolism, organism-specific biosystemAlpha-linolenic acid (ALA, 18:3(n-3)) is an omega-3 fatty acid, supplied through diet as it cannot be synthesized by humans. ALA has an important role in human health. It is converted to long chain m...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    ATP binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    ATPase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    ATPase activity, coupled to transmembrane movement of substances NAS
    Non-traceable Author Statement
    more info
    PubMed 
    enzyme binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    identical protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    peroxisomal fatty-acyl-CoA transporter activity IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    peroxisomal fatty-acyl-CoA transporter activity TAS
    Traceable Author Statement
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein homodimerization activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    transporter activity NAS
    Non-traceable Author Statement
    more info
    PubMed 
    Process Evidence Code Pubs
    alpha-linolenic acid metabolic process TAS
    Traceable Author Statement
    more info
     
    cellular lipid metabolic process TAS
    Traceable Author Statement
    more info
     
    fatty acid beta-oxidation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    fatty acid beta-oxidation IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    fatty acid beta-oxidation using acyl-CoA oxidase TAS
    Traceable Author Statement
    more info
     
    linoleic acid metabolic process TAS
    Traceable Author Statement
    more info
     
    long-chain fatty acid catabolic process IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    peroxisomal long-chain fatty acid import IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    peroxisomal membrane transport NAS
    Non-traceable Author Statement
    more info
    PubMed 
    peroxisome organization IDA
    Inferred from Direct Assay
    more info
    PubMed 
    peroxisome organization NAS
    Non-traceable Author Statement
    more info
    PubMed 
    small molecule metabolic process TAS
    Traceable Author Statement
    more info
     
    transmembrane transport TAS
    Traceable Author Statement
    more info
     
    unsaturated fatty acid metabolic process TAS
    Traceable Author Statement
    more info
     
    very long-chain fatty acid catabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    very long-chain fatty acid catabolic process IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    Component Evidence Code Pubs
    cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytosol TAS
    Traceable Author Statement
    more info
     
    integral component of peroxisomal membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    integral component of peroxisomal membrane NAS
    Non-traceable Author Statement
    more info
    PubMed 
    membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    mitochondrion IEA
    Inferred from Electronic Annotation
    more info
     
    perinuclear region of cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    peroxisomal membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    peroxisomal membrane TAS
    Traceable Author Statement
    more info
     
    peroxisome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Preferred Names
    ATP-binding cassette sub-family D member 1
    Names
    adrenoleukodystrophy protein

    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.

    Genomic

    1. NG_009022.1 RefSeqGene

      Range
      5001..24894
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000033.3NP_000024.2  ATP-binding cassette sub-family D member 1

      See identical proteins and their annotated locations for NP_000024.2

      Status: REVIEWED

      Source sequence(s)
      BC015541, BC025358
      Consensus CDS
      CCDS14728.1
      UniProtKB/Swiss-Prot
      P33897
      Related
      ENSP00000218104, OTTHUMP00000025960, ENST00000218104, OTTHUMT00000061041
      Conserved Domains (3) summary
      cd03223
      Location:474679
      ABCD_peroxisomal_ALDP; ATP-binding cassette domain of peroxisomal transporter, subfamily D
      pfam06472
      Location:65352
      ABC_membrane_2; ABC transporter transmembrane region 2
      TIGR00954
      Location:1681
      3a01203; Peroxysomal Fatty Acyl CoA Transporter (FAT) Family protein

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107

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

    Reference GRCh38.p2 Primary Assembly

    Genomic

    1. NC_000023.11 Reference GRCh38.p2 Primary Assembly

      Range
      153724851..153744762
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    RNA

    1. XR_938507.1 RNA Sequence

    Alternate CHM1_1.1

    Genomic

    1. NC_018934.2 Alternate CHM1_1.1

      Range
      152864732..152884627
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)