ABCD3
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| ABCD3 | |||||||||||||||||||||||||||||||||||||||||||||||||||
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| Identifiers | |||||||||||||||||||||||||||||||||||||||||||||||||||
| Aliases | ABCD3, ABC43, PMP70, PXMP1, ZWS2, CBAS5, ATP binding cassette subfamily D member 3 | ||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | OMIM: 170995 MGI: 1349216 HomoloGene: 2140 GeneCards: ABCD3 | ||||||||||||||||||||||||||||||||||||||||||||||||||
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ATP-binding cassette sub-family D member 3 is a protein that in humans is encoded by the ABCD3 gene.[5][6][7]
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] 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
Interactions
ABCD3 has been shown to interact with PEX19.[10][11][12][13]
References
- ^ a b c GRCh38: Ensembl release 89: ENSG00000117528 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000028127 – Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ 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. S2CID 5779170.
- ^ 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.
- ^ a b "Entrez Gene: ABCD3 ATP-binding cassette, sub-family D (ALD), member 3".
- ^ Paton, B. C.; Heron, S. E.; Nelson, P. V.; Morris, C. P.; Poulos, A. (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): 1535–9. doi:10.1016/S0002-9297(07)64247-5. PMC 1716138. PMID 9199576.
- ^ Ferdinandusse, S.; Jimenez-Sanchez, G.; Koster, J.; Denis, S.; Van Roermund, C. W.; Silva-Zolezzi, I.; Moser, A. B.; Visser, W. F.; Gulluoglu, M.; Durmaz, O.; Demirkol, M.; Waterham, H. R.; Gökcay, G.; Wanders, R. J.; Valle, D. (2015). "A novel bile acid biosynthesis defect due to a deficiency of peroxisomal ABCD3". Human Molecular Genetics. 24 (2): 361–70. doi:10.1093/hmg/ddu448. PMID 25168382.
- ^ 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.
- ^ 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.
- ^ 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.
- ^ 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
- Gärtner J, Valle D (1993). "The 70 kDa peroxisomal membrane protein: an ATP-binding cassette transporter protein involved in peroxisome biogenesis". Semin. Cell Biol. 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)". Hum. Mol. Genet. 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". Biochim. Biophys. Acta. 1129 (3): 323–7. doi:10.1016/0167-4781(92)90510-7. PMID 1536884.
- Gärtner J, Kearns W, Rosenberg C, Pearson P, Copeland NG, Gilbert DJ, Jenkins NA, Valle D (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.
- Shimozawa N, Suzuki Y, Tomatsu S, Tsukamoto T, Osumi T, Fujiki Y, Kamijo K, Hashimoto T, Kondo N, Orii T (1996). "Correction by gene expression of biochemical abnormalities in fibroblasts from Zellweger patients". Pediatr. Res. 39 (5): 812–5. doi:10.1203/00006450-199605000-00011. PMID 8726233.
- Kobayashi T, Shinnoh N, Kondo A, Yamada T (1997). "Adrenoleukodystrophy protein-deficient mice represent abnormality of very long chain fatty acid metabolism". Biochem. Biophys. Res. Commun. 232 (3): 631–6. doi:10.1006/bbrc.1997.6340. PMID 9126326.
- Paton BC, Heron SE, Nelson PV, Morris CP, Poulos A (1997). "Absence of mutations raises doubts about the role of the 70-kD peroxisomal membrane protein in Zellweger syndrome". Am. J. Hum. Genet. 60 (6): 1535–9. doi:10.1016/S0002-9297(07)64247-5. PMC 1716138. PMID 9199576.
- Gärtner J, Jimenez-Sanchez G, Roerig P, Valle D (1998). "Genomic organization of the 70-kDa peroxisomal membrane protein gene (PXMP1)". Genomics. 48 (2): 203–8. doi:10.1006/geno.1997.5177. PMID 9521874.
- Collins CS, Gould SJ (1999). "Identification of a common PEX1 mutation in Zellweger syndrome". Hum. Mutat. 14 (1): 45–53. doi:10.1002/(SICI)1098-1004(1999)14:1<45::AID-HUMU6>3.0.CO;2-J. PMID 10447258. S2CID 22153024.
- Liu LX, Janvier K, Berteaux-Lecellier V, Cartier N, Benarous R, Aubourg P (2000). "Homo- and heterodimerization of peroxisomal ATP-binding cassette half-transporters". J. Biol. Chem. 274 (46): 32738–43. doi:10.1074/jbc.274.46.32738. PMID 10551832.
- Sacksteder KA, Jones JM, South ST, Li X, Liu Y, Gould SJ (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.
- Gloeckner CJ, Mayerhofer PU, Landgraf P, Muntau AC, Holzinger A, Gerber JK, Kammerer S, Adamski J, Roscher AA (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.
- Roerig P, Mayerhofer P, Holzinger A, Gärtner J (2001). "Characterization and functional analysis of the nucleotide binding fold in human peroxisomal ATP binding cassette transporters". FEBS Lett. 492 (1–2): 66–72. doi:10.1016/S0014-5793(01)02235-9. PMID 11248239.
- Biermanns M, Gärtner J (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.
- Mayerhofer PU, Kattenfeld T, Roscher AA, Muntau AC (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.
- Tanaka AR, Tanabe K, Morita M, Kurisu M, Kasiwayama Y, Matsuo M, Kioka N, Amachi T, Imanaka T, Ueda K (2002). "ATP binding/hydrolysis by and phosphorylation of peroxisomal ATP-binding cassette proteins PMP70 (ABCD3) and adrenoleukodystrophy protein (ABCD1)". J. Biol. Chem. 277 (42): 40142–7. doi:10.1074/jbc.M205079200. PMID 12176987.
- Rual JF, Venkatesan K, Hao T, Hirozane-Kishikawa T, Dricot A, Li N, Berriz GF, Gibbons FD, Dreze M, Ayivi-Guedehoussou N, Klitgord N, Simon C, Boxem M, Milstein S, Rosenberg J, Goldberg DS, Zhang LV, Wong SL, Franklin G, Li S, Albala JS, Lim J, Fraughton C, Llamosas E, Cevik S, Bex C, Lamesch P, Sikorski RS, Vandenhaute J, Zoghbi HY, Smolyar A, Bosak S, Sequerra R, Doucette-Stamm L, Cusick ME, Hill DE, Roth FP, Vidal M (2005). "Towards a proteome-scale map of the human protein-protein interaction network". Nature. 437 (7062): 1173–8. Bibcode:2005Natur.437.1173R. doi:10.1038/nature04209. PMID 16189514. S2CID 4427026.
External links
- ABCD3+protein,+human at the U.S. National Library of Medicine Medical Subject Headings (MeSH)
- ABCD3 at The GDB Human Genome Database
- Human ABCD3 genome location and ABCD3 gene details page in the UCSC Genome Browser.
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
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