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ABCD3

From Wikipedia, the free encyclopedia

ABCD3
Identifiers
AliasesABCD3, ABC43, PMP70, PXMP1, ZWS2, CBAS5, ATP binding cassette subfamily D member 3
External IDsOMIM: 170995; MGI: 1349216; HomoloGene: 2140; GeneCards: ABCD3; OMA:ABCD3 - orthologs
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: 121.55 – 121.61 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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

Function

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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

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Mutations have been associated with some forms of Zellweger syndrome, a heterogeneous group of peroxisome assembly disorders.[7] However, this association was denied [8] and congenital bile acid synthesis defect-5 (CBAS5) was recently shown to be caused by homozygous mutation in the ABCD3 gene [9]

See also

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Interactions

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ABCD3 has been shown to interact with PEX19.[10][11][12][13]

References

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  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000117528 – Ensembl, May 2017
  2. 1 2 3 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". Nature Genetics. 1 (1): 16–23. doi:10.1038/ng0492-16. PMID 1301993. S2CID 5779170.
  6. ↑ Gärtner J, Kearns W, Rosenberg C, Pearson P, Copeland NG, Gilbert DJ, et al. (April 1993). "Localization of the 70-kDa peroxisomal membrane protein to human 1p21-p22 and mouse 3". Genomics. 15 (2): 412–414. doi:10.1006/geno.1993.1076. PMID 8449508.
  7. 1 2 "Entrez Gene: ABCD3 ATP-binding cassette, sub-family D (ALD), member 3".
  8. ↑ Paton BC, Heron SE, Nelson PV, Morris CP, Poulos A (June 1997). "Absence of mutations raises doubts about the role of the 70-kD peroxisomal membrane protein in Zellweger syndrome". American Journal of Human Genetics. 60 (6): 1535–1539. doi:10.1016/S0002-9297(07)64247-5. PMC 1716138. PMID 9199576.
  9. ↑ Ferdinandusse S, Jimenez-Sanchez G, Koster J, Denis S, Van Roermund CW, Silva-Zolezzi I, et al. (January 2015). "A novel bile acid biosynthesis defect due to a deficiency of peroxisomal ABCD3". Human Molecular Genetics. 24 (2): 361–370. doi:10.1093/hmg/ddu448. PMID 25168382.
  10. ↑ Mayerhofer PU, Kattenfeld T, Roscher AA, Muntau AC (March 2002). "Two splice variants of human PEX19 exhibit distinct functions in peroxisomal assembly". Biochemical and Biophysical Research Communications. 291 (5): 1180–1186. doi:10.1006/bbrc.2002.6568. PMID 11883941.
  11. ↑ Gloeckner CJ, Mayerhofer PU, Landgraf P, Muntau AC, Holzinger A, Gerber JK, et al. (April 2000). "Human adrenoleukodystrophy protein and related peroxisomal ABC transporters interact with the peroxisomal assembly protein PEX19p". Biochemical and Biophysical Research Communications. 271 (1): 144–150. doi:10.1006/bbrc.2000.2572. PMID 10777694.
  12. ↑ 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". The Journal of Cell Biology. 148 (5): 931–944. doi:10.1083/jcb.148.5.931. PMC 2174547. PMID 10704444.
  13. ↑ 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". Biochemical and Biophysical Research Communications. 285 (3): 649–655. doi:10.1006/bbrc.2001.5220. PMID 11453642.

Further reading

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  • Gärtner J, Valle D (1993). "The 70 kDa peroxisomal membrane protein: an ATP-binding cassette transporter protein involved in peroxisome biogenesis". Seminars in Cell Biology. 4 (1): 45–52. doi:10.1006/scel.1993.1006. PMID 8453064.
  • Gärtner J, Obie C, Moser H, Valle D (1993). "A polymorphic synonymous mutation (K54K) in the human 70 kD peroxisomal membrane protein gene (PMP1)". Human Molecular Genetics. 1 (8): 654. doi:10.1093/hmg/1.8.654. PMID 1301179.
  • Kamijo K, Kamijo T, Ueno I, Osumi T, Hashimoto T (1992). "Nucleotide sequence of the human 70 kDa peroxisomal membrane protein: a member of ATP-binding cassette transporters". Biochimica et Biophysica Acta (BBA) - Gene Structure and Expression. 1129 (3): 323–327. doi:10.1016/0167-4781(92)90510-7. PMID 1536884.
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This article incorporates text from the United States National Library of Medicine, which is in the public domain.

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