ABCD3

ATP-binding cassette sub-family D member 3 is a protein that in humans is encoded by the ABCD3 gene.[5][6][7]

ABCD3
Identifiers
AliasesABCD3, ABC43, PMP70, PXMP1, ZWS2, CBAS5, ATP binding cassette subfamily D member 3
External IDsOMIM: 170995 MGI: 1349216 HomoloGene: 2140 GeneCards: ABCD3
Gene location (Human)
Chr.Chromosome 1 (human)[1]
Band1p21.3Start94,418,389 bp[1]
End94,518,666 bp[1]
RNA expression pattern
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez

5825

19299

Ensembl

ENSG00000117528

ENSMUSG00000028127

UniProt

P28288

P55096

RefSeq (mRNA)

NM_001122674
NM_002858

NM_008991
NM_001355756

RefSeq (protein)

NP_001116146
NP_002849

NP_033017
NP_001342685

Location (UCSC)Chr 1: 94.42 – 94.52 MbChr 3: 121.76 – 121.82 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Function

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.

Clinical significance

Mutations have been associated with some forms of Zellweger syndrome, a heterogeneous group of peroxisome assembly disorders.[7]

See also

Interactions

ABCD3 has been shown to interact with PEX19.[8][9][10][11]

References

  1. GRCh38: Ensembl release 89: ENSG00000117528 - Ensembl, May 2017
  2. GRCm38: Ensembl release 89: ENSMUSG00000028127 - Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. Gärtner J, Moser H, Valle D (June 1993). "Mutations in the 70K peroxisomal membrane protein gene in Zellweger syndrome". Nat Genet. 1 (1): 16–23. doi:10.1038/ng0492-16. PMID 1301993.
  6. Gärtner J, Kearns W, Rosenberg C, Pearson P, Copeland NG, Gilbert DJ, Jenkins NA, Valle D (April 1993). "Localization of the 70-kDa peroxisomal membrane protein to human 1p21-p22 and mouse 3". Genomics. 15 (2): 412–4. doi:10.1006/geno.1993.1076. PMID 8449508.
  7. "Entrez Gene: ABCD3 ATP-binding cassette, sub-family D (ALD), member 3".
  8. Mayerhofer PU, Kattenfeld T, Roscher AA, Muntau AC (March 2002). "Two splice variants of human PEX19 exhibit distinct functions in peroxisomal assembly". Biochem. Biophys. Res. Commun. 291 (5): 1180–6. doi:10.1006/bbrc.2002.6568. PMID 11883941.
  9. Gloeckner CJ, Mayerhofer PU, Landgraf P, Muntau AC, Holzinger A, Gerber JK, Kammerer S, Adamski J, Roscher AA (April 2000). "Human adrenoleukodystrophy protein and related peroxisomal ABC transporters interact with the peroxisomal assembly protein PEX19p". Biochem. Biophys. Res. Commun. 271 (1): 144–50. doi:10.1006/bbrc.2000.2572. PMID 10777694.
  10. Sacksteder KA, Jones JM, South ST, Li X, Liu Y, Gould SJ (March 2000). "PEX19 binds multiple peroxisomal membrane proteins, is predominantly cytoplasmic, and is required for peroxisome membrane synthesis". J. Cell Biol. 148 (5): 931–44. doi:10.1083/jcb.148.5.931. PMC 2174547. PMID 10704444.
  11. Biermanns M, Gärtner J (July 2001). "Targeting elements in the amino-terminal part direct the human 70-kDa peroxisomal integral membrane protein (PMP70) to peroxisomes". Biochem. Biophys. Res. Commun. 285 (3): 649–55. doi:10.1006/bbrc.2001.5220. PMID 11453642.

Further reading

This article incorporates text from the United States National Library of Medicine, which is in the public domain.


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