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

    Gene ID: 5825, updated on 10-Dec-2024

    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; AllianceGenome:HGNC:67
    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
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    Genomic context

    See ABCD3 in Genome Data Viewer
    Location:
    1p21.3
    Exon count:
    29
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (94385131..94518663)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (94233380..94366700)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (94883945..94984219)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105378858 Neighboring gene small nucleolar RNA U13 Neighboring gene Sharpr-MPRA regulatory region 7015 Neighboring gene Rho GTPase activating protein 29 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:94660072-94660283 Neighboring gene NANOG hESC enhancer GRCh37_chr1:94664929-94665459 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1092 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1093 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1094 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1095 Neighboring gene ARHGAP29 antisense RNA 1 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr1:94736061-94737260 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1346 Neighboring gene Sharpr-MPRA regulatory region 2220 Neighboring gene glyceraldehyde 3 phosphate dehydrogenase pseudogene 29 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr1:94792875-94793386 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:94883134-94883925 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1347 Neighboring gene ribosomal protein L21 pseudogene 26 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1097 Neighboring gene uncharacterized LOC124904223 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?

    Phenotypes

    Associated conditions

    Description Tests
    Congenital bile acid synthesis defect 5
    MedGen: C4225390 OMIM: 616278 GeneReviews: Not available
    Compare labs

    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

    General gene information

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in bile acid and bile salt transport  
    involved_in bile acid biosynthetic 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 biosynthetic process PubMed 
    involved_in long-chain fatty acid import into peroxisome  
    involved_in long-chain fatty acid import into peroxisome PubMed 
    involved_in peroxisome organization  
    involved_in peroxisome organization PubMed 
    involved_in peroxisome organization PubMed 
    involved_in phytanic acid metabolic process  
    involved_in response to organic cyclic compound  
    involved_in response to xenobiotic stimulus  
    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 metabolic process PubMed 
    Component Evidence Code Pubs
    located_in cytosol  
    located_in intracellular membrane-bounded organelle  
    located_in membrane PubMed 
    located_in mitochondrion  
    located_in peroxisomal matrix PubMed 
    located_in peroxisomal membrane PubMed 
    is_active_in peroxisomal membrane  
    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 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_008865.2 RefSeqGene

      Range
      38260..138534
      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
      D3DT46, P28288, Q15271, Q6NUN5, Q96DA3, Q9H529
      UniProtKB/TrEMBL
      A0A3B3ITW3
      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: 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_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      94385131..94518663
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047426556.1XP_047282512.1  ATP-binding cassette sub-family D member 3 isoform X3

      UniProtKB/TrEMBL
      B4DZ22
    2. XM_006710802.3XP_006710865.2  ATP-binding cassette sub-family D member 3 isoform X1

      UniProtKB/TrEMBL
      B4DL07
      Conserved Domains (1) summary
      TIGR00954
      Location:1671
      3a01203; Peroxysomal Fatty Acyl CoA Transporter (FAT) Family protein
    3. XM_047426549.1XP_047282505.1  ATP-binding cassette sub-family D member 3 isoform X3

      UniProtKB/TrEMBL
      B4DZ22
    4. XM_047426546.1XP_047282502.1  ATP-binding cassette sub-family D member 3 isoform X2

      UniProtKB/TrEMBL
      B4DL07
    5. XM_047426554.1XP_047282510.1  ATP-binding cassette sub-family D member 3 isoform X3

      UniProtKB/TrEMBL
      B4DZ22
    6. XM_011541877.2XP_011540179.1  ATP-binding cassette sub-family D member 3 isoform X4

      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
    7. XM_047426559.1XP_047282515.1  ATP-binding cassette sub-family D member 3 isoform X4

      Related
      ENST00000484213.1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      94233380..94366700
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054337991.1XP_054193966.1  ATP-binding cassette sub-family D member 3 isoform X3

      UniProtKB/TrEMBL
      B4DZ22
    2. XM_054337988.1XP_054193963.1  ATP-binding cassette sub-family D member 3 isoform X1

      UniProtKB/TrEMBL
      B4DL07
    3. XM_054337989.1XP_054193964.1  ATP-binding cassette sub-family D member 3 isoform X3

      UniProtKB/TrEMBL
      B4DZ22
    4. XM_054337990.1XP_054193965.1  ATP-binding cassette sub-family D member 3 isoform X3

      UniProtKB/TrEMBL
      B4DZ22
    5. XM_054337993.1XP_054193968.1  ATP-binding cassette sub-family D member 3 isoform X4

    6. XM_054337992.1XP_054193967.1  ATP-binding cassette sub-family D member 3 isoform X4

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