ABCD3

ABCD3
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; OMA:ABCD3 - orthologs
Gene location (Human) Chr. Chromosome 1 (human) [1] Band 1p21.3 Start 94,418,389 bp [1] End 94,518,666 bp [1]
Gene location (Mouse) Chr. Chromosome 3 (mouse) [2] Band 3 G1|3 52.94 cM Start 121,552,423 bp [2] End 121,608,951 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in secondary oocyte jejunal mucosa epithelium of nasopharynx Epithelium of choroid plexus mucosa of paranasal sinus bronchial epithelial cell kidney tubule retinal pigment epithelium palpebral conjunctiva skin of thigh Top expressed in epithelium of stomach transitional epithelium of urinary bladder left lobe of liver conjunctival fornix saccule retinal pigment epithelium mucous cell of stomach lacrimal gland gallbladder skin of external ear More reference expression data BioGPS More reference expression data
Gene ontology Molecular function ATPase-coupled transmembrane transporter activity nucleotide binding protein homodimerization activity protein self-association ATPase activity protein binding ATP binding long-chain fatty acid transporter activity Cellular component integral component of membrane cytosol membrane intracellular membrane-bounded organelle peroxisomal membrane peroxisome peroxisomal matrix mitochondrion mitochondrial inner membrane Biological process long-chain fatty acid import into peroxisome peroxisome organization response to organic cyclic compound fatty acid biosynthetic process transmembrane transport very long-chain fatty acid catabolic process fatty acid beta-oxidation transport Sources:Amigo / QuickGO
Orthologs Species Human Mouse 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 Mb Chr 3: 121.55 – 121.61 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/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

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

• ATP-binding cassette transporter

Interactions

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

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. S2CID   5779170.
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. 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.
9. 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.
10. 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.
11. 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.
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". J. Cell Biol. 148 (5): 931–44. 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". 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.