ABCD3 (ATP binding cassette subfamily D member 3)

Gene

• Entrez ID: 5825
• Gene name: ATP binding cassette subfamily D member 3
• Gene symbol: ABCD3
• Synonyms: ABC43, CBAS5, PMP70, PXMP1, ZWS2
• Chromosome: 1
• Chromosome location: 1p21.3
• 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]

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT030935	hsa-miR-21-5p	Microarray	18591254

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005324	Function	Long-chain fatty acid transporter activity	IBA	21873635
GO:0005515	Function	Protein binding	IPI	10551832, 10704444, 10777694, 11453642, 11590176, 11883941, 14709540, 16344115, 17609205, 21102411
GO:0005524	Function	ATP binding	IBA	21873635
GO:0005524	Function	ATP binding	IDA	11248239
GO:0005739	Component	Mitochondrion	IEA
GO:0005777	Component	Peroxisome	IDA	9425230, 9922452, 10704444, 11453642, 16344115, 17542813, 19479899, 20007743
GO:0005778	Component	Peroxisomal membrane	IBA	21873635
GO:0005778	Component	Peroxisomal membrane	IDA	17609205
GO:0005778	Component	Peroxisomal membrane	TAS
GO:0005782	Component	Peroxisomal matrix	IDA	9765053
GO:0005829	Component	Cytosol	TAS
GO:0006633	Process	Fatty acid biosynthetic process	IMP	25168382
GO:0006635	Process	Fatty acid beta-oxidation	IBA	21873635
GO:0006635	Process	Fatty acid beta-oxidation	IGI	9425230
GO:0007031	Process	Peroxisome organization	IBA	21873635
GO:0007031	Process	Peroxisome organization	IDA	9425230
GO:0007031	Process	Peroxisome organization	IMP	9765053
GO:0014070	Process	Response to organic cyclic compound	IEA
GO:0015910	Process	Long-chain fatty acid import into peroxisome	IBA	21873635
GO:0016020	Component	Membrane	HDA	19946888
GO:0016021	Component	Integral component of membrane	IEA
GO:0016887	Function	ATPase activity	IBA	21873635
GO:0016887	Function	ATPase activity	IDA	11248239
GO:0042493	Process	Response to drug	IEA
GO:0042626	Function	ATPase-coupled transmembrane transporter activity	IBA	21873635
GO:0042760	Process	Very long-chain fatty acid catabolic process	IBA	21873635
GO:0042760	Process	Very long-chain fatty acid catabolic process	IGI	9425230
GO:0042803	Function	Protein homodimerization activity	IDA	17609205
GO:0043231	Component	Intracellular membrane-bounded organelle	IDA
GO:0043621	Function	Protein self-association	IEA
GO:0055085	Process	Transmembrane transport	TAS

Other IDs

• MIM: 170995
• HGNC: 67
• e!Ensembl: ENSG00000117528

Protein

• UniProt ID: P28288
• Protein name: ATP-binding cassette sub-family D member 3 (70 kDa peroxisomal membrane protein) (PMP70)
• Protein function: Probable transporter involved in the transport of branched-chain fatty acids and C27 bile acids into the peroxisome; the latter function is a crucial step in bile acid biosynthesis (PubMed:25168382). The nucleotide-binding fold acts as an ATP-binding subunit with ATPase activity (PubMed:11248239).
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF06472	ABC_membrane_2	70 → 338	ABC transporter transmembrane region 2	Family
  PF00005	ABC_tran	456 → 599	ABC transporter	Domain

• Sequence:

  MAAFSKYLTARNSSLAGAAFLLLCLLHKRRRALGLHGKKSGKPPLQNNEKEGKKERAVVD
  KVFFSRLIQILKIMVPRTFCKETGYLVLIAVMLVSRTYCDVWMIQNGTLIESGIIGRSRK
  DFKRYLLNFIAAMPLISLVNNFLKYGLNELKLCFRVRLTKYLYEEYLQAFTYYKMGNLDN
  RIANPDQLLTQDVEKFCNSVVDLYSNLSKPFLDIVLYIFKLTSAIGAQGPASMMAYLVVS
  GLFLTRLRRPIGKMTITEQKYEGEYRYVNSRLITNSEEIAFYNGNKREKQTVHSVFRKLV
  EHLHNFILFRFSMGFIDSIIAKYLATVVGYLVVSRPFLDLSHPRHLKSTHSELLEDYYQS
  GRMLLRMSQALGRIVLAGREMTRLAGFTARITELMQVLKDLNHGKYERTMVSQQEKGIEG
  VQVIPLIPGAGEIIIADNIIKFDHVPLATPNGDVLIRDLNFEVRSGANVLICGPNGCGKS
  SLFRVLGELWPLFGGRLTKPERGKLFYVPQRPYMTLGTLRDQVIYPDGREDQKRKGISDL
  VLKEYLDNVQLGHILEREGGWDSVQDWMDVLSGGEKQRMAMARLFYHKPQFAILDECTSA
  VSVDVEGYIYSHCRKVGITLFTVSHRKSLWKHHEYYLHMDGRGNYEFKQITEDTVEFGS

• Sequence length: 659