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ATP-binding cassette, sub-family D (ALD), member 3
Identifiers
Symbols ABCD3; PXMP1; ABC43; PMP70
External IDs OMIM170995 MGI1349216 HomoloGene2140 GeneCards: ABCD3 Gene
RNA expression pattern
PBB GE ABCD3 202850 at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 5825 19299
Ensembl ENSG00000117528 ENSMUSG00000028127
UniProt P28288 Q3U645
RefSeq (mRNA) NM_002858 NM_008991
RefSeq (protein) NP_002849 NP_033017
Location (UCSC) Chr 1:
94.66 - 94.76 Mb
Chr 3:
121.75 - 121.81 Mb
PubMed search [1] [2]

ATP-binding cassette sub-family D member 3 is a protein that in humans is encoded by the ABCD3 gene.[1][2][3]

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.[3]

Contents

See also

Interactions

ABCD3 has been shown to interact with PEX19.[4][5][6][7]

References

  1. ^ Gartner J, Moser H, Valle D (Jun 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.  
  2. ^ Gartner J, Kearns W, Rosenberg C, Pearson P, Copeland NG, Gilbert DJ, Jenkins NA, Valle D (Apr 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.  
  3. ^ a b "Entrez Gene: ABCD3 ATP-binding cassette, sub-family D (ALD), member 3". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=5825.  
  4. ^ Mayerhofer, Peter U; Kattenfeld Tanja, Roscher Adelbert A, Muntau Ania C (Mar. 2002). "Two splice variants of human PEX19 exhibit distinct functions in peroxisomal assembly". Biochem. Biophys. Res. Commun. (United States) 291 (5): 1180–6. doi:10.1006/bbrc.2002.6568. ISSN 0006-291X. PMID 11883941.  
  5. ^ Gloeckner, C J; Mayerhofer P U, Landgraf P, Muntau A C, Holzinger A, Gerber J K, Kammerer S, Adamski J, Roscher A A (Apr. 2000). "Human adrenoleukodystrophy protein and related peroxisomal ABC transporters interact with the peroxisomal assembly protein PEX19p". Biochem. Biophys. Res. Commun. (UNITED STATES) 271 (1): 144–50. doi:10.1006/bbrc.2000.2572. ISSN 0006-291X. PMID 10777694.  
  6. ^ Sacksteder, K A; Jones J M, South S T, Li X, Liu Y, Gould S J (Mar. 2000). "PEX19 binds multiple peroxisomal membrane proteins, is predominantly cytoplasmic, and is required for peroxisome membrane synthesis". J. Cell Biol. (UNITED STATES) 148 (5): 931–44. ISSN 0021-9525. PMID 10704444.  
  7. ^ Biermanns, M; Gärtner J (Jul. 2001). "Targeting elements in the amino-terminal part direct the human 70-kDa peroxisomal integral membrane protein (PMP70) to peroxisomes". Biochem. Biophys. Res. Commun. (United States) 285 (3): 649–55. doi:10.1006/bbrc.2001.5220. ISSN 0006-291X. 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, et al. (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. PMID 1536884.  
  • Gärtner J, Kearns W, Rosenberg C, et al. (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, et al. (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, et al. (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. 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.  
  • Liu LX, Janvier K, Berteaux-Lecellier V, et al. (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, et al. (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. PMID 10704444.  
  • Gloeckner CJ, Mayerhofer PU, Landgraf P, et al. (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, et al. (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.  
  • Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMID 12477932.  
  • Rual JF, Venkatesan K, Hao T, et al. (2005). "Towards a proteome-scale map of the human protein-protein interaction network.". Nature 437 (7062): 1173–8. doi:10.1038/nature04209. PMID 16189514.  

External links

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

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