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

Gene ID: 5825, updated on 4-Oct-2020

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

Genomic context

See ABCD3 in Genome Data Viewer
Location:
1p21.3
Exon count:
26
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (94418086..94518663)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (94883933..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
ATP binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
ATP binding IDA
Inferred from Direct Assay
more info
PubMed 
ATPase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
ATPase activity IDA
Inferred from Direct Assay
more info
PubMed 
ATPase activity, coupled to transmembrane movement of substances IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
ATPase activity, coupled to transmembrane movement of substances IEA
Inferred from Electronic Annotation
more info
 
long-chain fatty acid transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
long-chain fatty acid transporter activity IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein homodimerization activity IDA
Inferred from Direct Assay
more info
PubMed 
protein self-association IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
fatty acid beta-oxidation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
fatty acid beta-oxidation IGI
Inferred from Genetic Interaction
more info
PubMed 
fatty acid biosynthetic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
peroxisomal long-chain fatty acid import IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
peroxisomal long-chain fatty acid import IEA
Inferred from Electronic Annotation
more info
 
peroxisome organization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
peroxisome organization IDA
Inferred from Direct Assay
more info
PubMed 
peroxisome organization IMP
Inferred from Mutant Phenotype
more info
PubMed 
response to drug IEA
Inferred from Electronic Annotation
more info
 
response to organic cyclic compound IEA
Inferred from Electronic Annotation
more info
 
transmembrane transport TAS
Traceable Author Statement
more info
 
very long-chain fatty acid catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
very long-chain fatty acid catabolic process IGI
Inferred from Genetic Interaction
more info
PubMed 
Component Evidence Code Pubs
cytosol TAS
Traceable Author Statement
more info
 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
 
membrane HDA PubMed 
mitochondrion IEA
Inferred from Electronic Annotation
more info
 
peroxisomal matrix IDA
Inferred from Direct Assay
more info
PubMed 
peroxisomal membrane IBA
Inferred from Biological aspect of Ancestor
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 

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)

NCBI Reference Sequences (RefSeq)

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 109.20200815

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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