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    ABCD1 ATP binding cassette subfamily D member 1 [ Homo sapiens (human) ]

    Gene ID: 215, updated on 27-Dec-2024

    Summary

    Official Symbol
    ABCD1provided by HGNC
    Official Full Name
    ATP binding cassette subfamily D member 1provided by HGNC
    Primary source
    HGNC:HGNC:61
    See related
    Ensembl:ENSG00000101986 MIM:300371; AllianceGenome:HGNC:61
    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]
    Expression
    Broad expression in fat (RPKM 8.1), small intestine (RPKM 7.9) and 25 other tissues See more
    Orthologs
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    Genomic context

    See ABCD1 in Genome Data Viewer
    Location:
    Xq28
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (153724856..153744755)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (151998519..152018419)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (152990311..153010209)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene solute carrier family 6 member 8 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:152972381-152972881 Neighboring gene Sharpr-MPRA regulatory region 5891 Neighboring gene B cell receptor associated protein 31 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 21069 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 21070 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:152990931-152991752 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 30037 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 30038 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 30039 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:152998767-152999458 Neighboring gene uncharacterized LOC124905226 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:153005935-153006435 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:153008185-153008886 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:153008887-153009586 Neighboring gene PLXNB3 antisense RNA 1 Neighboring gene plexin B3 Neighboring gene uncharacterized LOC124905227 Neighboring gene SRSF protein kinase 3

    Genomic regions, transcripts, and products

    Expression

    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    BioGRID CRISPR Screen Phenotypes (27 hits/893 screens)

    Associated conditions

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated 2020-12-02)

    ClinGen Genome Curation Page
    Haploinsufficency

    Sufficient evidence for dosage pathogenicity (Last evaluated 2020-12-02)

    ClinGen Genome Curation PagePubMed

    EBI GWAS Catalog

    Description
    A genome-wide meta-analysis identifies novel loci associated with schizophrenia and bipolar disorder.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ABC-type fatty-acyl-CoA transporter activity PubMed 
    enables ABC-type fatty-acyl-CoA transporter activity PubMed 
    enables ADP binding PubMed 
    enables ATP binding  
    enables ATP binding PubMed 
    enables ATP hydrolysis activity PubMed 
    enables ATPase-coupled transmembrane transporter activity  
    enables ATPase-coupled transmembrane transporter activity PubMed 
    enables ATPase-coupled transmembrane transporter activity PubMed 
    enables enzyme binding PubMed 
    enables fatty acyl-CoA hydrolase activity PubMed 
    enables identical protein binding PubMed 
    enables long-chain fatty acid transmembrane transporter activity PubMed 
    enables long-chain fatty acid transmembrane transporter activity  
    enables long-chain fatty acid transmembrane transporter activity PubMed 
    enables long-chain fatty acid transmembrane transporter activity  
    enables protein binding PubMed 
    enables protein heterodimerization activity  
    enables protein homodimerization activity PubMed 
    enables very long-chain fatty acyl-CoA hydrolase activity  
    Items 1 - 25 of 34
    Process Evidence Code Pubs
    involved_in alpha-linolenic acid metabolic process  
    involved_in fatty acid beta-oxidation  
    involved_in fatty acid beta-oxidation PubMed 
    involved_in fatty acid beta-oxidation PubMed 
    involved_in fatty acid beta-oxidation PubMed 
    involved_in fatty acid elongation  
    involved_in fatty acid homeostasis  
    involved_in fatty-acyl-CoA transport  
    involved_in linoleic acid metabolic process  
    involved_in long-chain fatty acid catabolic process PubMed 
    involved_in long-chain fatty acid catabolic process PubMed 
    involved_in long-chain fatty acid import into peroxisome  
    involved_in long-chain fatty acid import into peroxisome PubMed 
    involved_in myelin maintenance  
    involved_in negative regulation of cytokine production involved in inflammatory response  
    involved_in negative regulation of reactive oxygen species biosynthetic process  
    involved_in neuron projection maintenance  
    involved_in peroxisomal membrane transport PubMed 
    involved_in peroxisome organization  
    involved_in peroxisome organization PubMed 
    involved_in peroxisome organization PubMed 
    involved_in positive regulation of fatty acid beta-oxidation PubMed 
    involved_in positive regulation of fatty acid beta-oxidation  
    involved_in positive regulation of unsaturated fatty acid biosynthetic process  
    involved_in regulation of cellular response to oxidative stress  
    involved_in regulation of fatty acid beta-oxidation  
    involved_in regulation of mitochondrial depolarization  
    involved_in regulation of oxidative phosphorylation  
    involved_in sterol homeostasis  
    involved_in very long-chain fatty acid catabolic process  
    involved_in very long-chain fatty acid catabolic process PubMed 
    involved_in very long-chain fatty acid catabolic process PubMed 
    involved_in very long-chain fatty acid metabolic process PubMed 
    involved_in very long-chain fatty-acyl-CoA catabolic process PubMed 
    Items 1 - 25 of 34
    Component Evidence Code Pubs
    located_in cytoplasm PubMed 
    located_in cytosol  
    located_in endoplasmic reticulum membrane PubMed 
    located_in lysosomal membrane PubMed 
    located_in membrane PubMed 
    located_in mitochondrial membrane PubMed 
    located_in perinuclear region of cytoplasm PubMed 
    is_active_in peroxisomal membrane  
    located_in peroxisomal membrane PubMed 
    located_in peroxisomal membrane PubMed 
    located_in peroxisomal membrane  
    located_in peroxisome PubMed 

    General protein information

    Preferred Names
    ATP-binding cassette sub-family D member 1
    Names
    ATP-binding cassette, sub-family D (ALD), member 1
    adrenoleukodystrophy protein
    NP_000024.2
    XP_047297872.1
    XP_047297873.1
    XP_054182655.1
    XP_054182656.1

    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.

    Genomic

    1. NG_009022.2 RefSeqGene

      Range
      4989..24888
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_1017

    mRNA and Protein(s)

    1. NM_000033.4NP_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, U52111
      Consensus CDS
      CCDS14728.1
      UniProtKB/Swiss-Prot
      P33897, Q6GTZ2
      Related
      ENSP00000218104.3, ENST00000218104.6
      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_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000023.11 Reference GRCh38.p14 Primary Assembly

      Range
      153724856..153744755
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047441916.1XP_047297872.1  ATP-binding cassette sub-family D member 1 isoform X1

    2. XM_047441917.1XP_047297873.1  ATP-binding cassette sub-family D member 1 isoform X2

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060947.1 Alternate T2T-CHM13v2.0

      Range
      151998519..152018419
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054326680.1XP_054182655.1  ATP-binding cassette sub-family D member 1 isoform X1

    2. XM_054326681.1XP_054182656.1  ATP-binding cassette sub-family D member 1 isoform X2

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