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    ABCD3 ATP binding cassette subfamily D member 3 [ Homo sapiens (human) ]

    Gene ID: 5825, updated on 6-May-2021

    Summary

    Official Symbol
    ABCD3provided by HGNC
    Official Full Name
    ATP binding cassette subfamily D member 3provided by HGNC
    Primary source
    HGNC:HGNC:67
    See related
    Ensembl:ENSG00000117528 MIM:170995
    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
    ZWS2; ABC43; CBAS5; PMP70; PXMP1
    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 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]
    Expression
    Ubiquitous expression in liver (RPKM 28.7), kidney (RPKM 21.5) and 25 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See ABCD3 in Genome Data Viewer
    Location:
    1p21.3
    Exon count:
    26
    Annotation release Status Assembly Chr Location
    109.20210226 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (94418086..94518663)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (94883945..94984219)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene ARHGAP29 antisense RNA 1 Neighboring gene uncharacterized LOC105378859 Neighboring gene ribosomal protein L21 pseudogene 26 Neighboring gene microRNA 12133 Neighboring gene coagulation factor III, tissue factor

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Vpr vpr HIV-1 Vpr is identified to have a physical interaction with ATP-binding cassette, sub-family D (ALD), member 3 (ABCD3) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables ATP binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables ATPase IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables ATPase-coupled transmembrane transporter activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables long-chain fatty acid transporter activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein homodimerization activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein self-association 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
    PubMed 
    involved_in fatty acid beta-oxidation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in fatty acid beta-oxidation IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in fatty acid biosynthetic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in lipid transport TAS
    Traceable Author Statement
    more info
     
    involved_in long-chain fatty acid import into peroxisome IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in peroxisome organization IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in peroxisome organization IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in peroxisome organization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in protein import into peroxisome membrane TAS
    Traceable Author Statement
    more info
     
    involved_in response to drug IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to organic cyclic compound 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
    PubMed 
    involved_in very long-chain fatty acid catabolic process IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in integral component of membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
     
    located_in membrane HDA PubMed 
    located_in mitochondrion IEA
    Inferred from Electronic Annotation
    more info
     
    located_in peroxisomal matrix IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in peroxisomal membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in peroxisomal membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in peroxisomal membrane TAS
    Traceable Author Statement
    more info
     
    located_in peroxisome IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    ATP-binding cassette sub-family D member 3
    Names
    70 kDa peroxisomal membrane protein
    ATP-binding cassette, sub-family D (ALD), member 3
    Peroxisomal membrane protein-1 (70kD)
    dJ824O18.1 (ATP-binding cassette, sub-family D (ALD), member 3 (PMP70, PXMP1))
    peroxisomal membrane protein 1 (70kD, Zellweger syndrome)
    peroxisomal membrane protein 70 kDa

    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_008865.1 RefSeqGene

      Range
      5013..105287
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001122674.2NP_001116146.1  ATP-binding cassette sub-family D member 3 isoform b

      See identical proteins and their annotated locations for NP_001116146.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) has multiple differences in the 3' coding region and 3' UTR and contains an alternate exon in the central coding region, compared to variant 1, that results in a protein (isoform b) with a shorter, distinct C-terminus when compared to isoform a.
      Source sequence(s)
      AC118469, BC009712, DC317792
      Consensus CDS
      CCDS44175.1
      UniProtKB/Swiss-Prot
      P28288
      Related
      ENSP00000326880.5, ENST00000315713.5
      Conserved Domains (1) summary
      TIGR00954
      Location:1234
      3a01203; Peroxysomal Fatty Acyl CoA Transporter (FAT) Family protein
    2. NM_002858.4NP_002849.1  ATP-binding cassette sub-family D member 3 isoform a

      See identical proteins and their annotated locations for NP_002849.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a).
      Source sequence(s)
      BC068509, DC317792, M81182
      Consensus CDS
      CCDS749.1
      UniProtKB/Swiss-Prot
      P28288
      Related
      ENSP00000359233.4, ENST00000370214.9
      Conserved Domains (1) summary
      TIGR00954
      Location:1647
      3a01203; Peroxysomal Fatty Acyl CoA Transporter (FAT) Family protein

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210226

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

      Range
      94418086..94518663
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006710802.2XP_006710865.2  ATP-binding cassette sub-family D member 3 isoform X1

      Conserved Domains (1) summary
      TIGR00954
      Location:1671
      3a01203; Peroxysomal Fatty Acyl CoA Transporter (FAT) Family protein
    2. XM_011541877.1XP_011540179.1  ATP-binding cassette sub-family D member 3 isoform X2

      Conserved Domains (3) summary
      PRK10247
      Location:124332
      PRK10247; putative ABC transporter ATP-binding protein YbbL; Provisional
      cd03223
      Location:128333
      ABCD_peroxisomal_ALDP; ATP-binding cassette domain of peroxisomal transporter, subfamily D
      cl00549
      Location:126
      ABC_membrane; ABC transporter transmembrane region
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