ABCD3

ABCD3
识别号
别名	ABCD3；, ABC43, PMP70, PXMP1, ZWS2, CBAS5, ATP binding cassette subfamily D member 3
外部ID	OMIM：170995 MGI：1349216 HomoloGene：2140 GeneCards：ABCD3
相关疾病
	congenital bile acid synthesis defect 5
基因位置（人类）
染色体	1号染色体
终止	94,518,666 bp
基因位置（小鼠）
染色体	小鼠3号染色体
终止	121,608,951 bp
RNA表达模式
	查阅更多表达数据
基因本体
分子功能	• ATPase-coupled transmembrane transporter activity; • 核苷酸结合; • protein homodimerization activity; • 蛋白质自缔合; • ATPase activity; • 血浆蛋白结合; • ATP结合; • long-chain fatty acid transporter activity;
细胞组分	• integral component of membrane; • 细胞质基质; • 膜; • 细胞内膜结合细胞器; • peroxisomal membrane; • 过氧化物酶体; • peroxisomal matrix; • 线粒体; • mitochondrial inner membrane;
生物学过程	• 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
直系同源
	5825
	19299
	ENSG00000117528
	ENSMUSG00000028127
	P28288
	P55096
	NM_001122674; NM_002858
	NM_008991; NM_001355756
	NP_001116146; NP_002849
	NP_033017; NP_001342685
	维基数据
查看/编辑人类	查看/编辑小鼠

ATP结合盒转运蛋白亚族D成员3（英语：ATP-binding cassette subfamily D member 3）是一种在人类中由ABCD3基因编码的蛋白质。^[6]^[7]^[8]

功能

由该基因编码的蛋白质是ATP结合盒转运蛋白（简称ABC转运蛋白）超家族的成员。ABC转运蛋白可跨细胞外膜和细胞内膜转运各种分子。ABC基因分为七个不同的亚家族（A、B、C、D、E、F、G）。这种蛋白质是D亚族（也叫ALD亚族）的成员，它参与细胞器中脂肪酸和/或脂酰辅酶A的过氧化物酶体输入。所有已知的过氧化物酶体ABC转运蛋白都是半转运蛋白，需要伴侣半转运蛋白分子来形成功能性同二聚体或异二聚体转运蛋白。这种过氧化物酶体膜蛋白可能在过氧化物酶体生物发生中起重要作用。

临床意义

突变与某些形式的脑肝肾综合症有关，脑肝肾综合症是一组异质的过氧化物酶体组装障碍。^[8]然而，这种关联被否认，^[9]而先天性胆汁酸合成缺陷5（CBAS5）则在最近被证明是由ABCD3基因的纯合突变引起的^[10]

相互作用

ABCD3已被证明能与PEX19 相互作用。^[11]^[12]^[13]^[14]

参见

ATP结合盒转运蛋白

参考资料

^ 與ABCD3相關的疾病；在維基數據上查看/編輯參考.
^ ^2.0 ^2.1 ^2.2 GRCh38: Ensembl release 89: ENSG00000117528 - Ensembl, May 2017
^ ^3.0 ^3.1 ^3.2 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. Mutations in the 70K peroxisomal membrane protein gene in Zellweger syndrome. Nat Genet. June 1993, 1 (1): 16–23. PMID 1301993. S2CID 5779170. doi:10.1038/ng0492-16.
^ Gärtner J, Kearns W, Rosenberg C, Pearson P, Copeland NG, Gilbert DJ, Jenkins NA, Valle D. Localization of the 70-kDa peroxisomal membrane protein to human 1p21-p22 and mouse 3. Genomics. April 1993, 15 (2): 412–4. PMID 8449508. doi:10.1006/geno.1993.1076  .
^ ^8.0 ^8.1 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. Absence of mutations raises doubts about the role of the 70-kD peroxisomal membrane protein in Zellweger syndrome. American Journal of Human Genetics. 1997, 60 (6): 1535–9. PMC 1716138  . PMID 9199576. doi:10.1016/S0002-9297(07)64247-5.
^ 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. A novel bile acid biosynthesis defect due to a deficiency of peroxisomal ABCD3. Human Molecular Genetics. 2015, 24 (2): 361–70. PMID 25168382. doi:10.1093/hmg/ddu448  .
^ Mayerhofer PU, Kattenfeld T, Roscher AA, Muntau AC. Two splice variants of human PEX19 exhibit distinct functions in peroxisomal assembly. Biochem. Biophys. Res. Commun. March 2002, 291 (5): 1180–6. PMID 11883941. doi:10.1006/bbrc.2002.6568.
^ Gloeckner CJ, Mayerhofer PU, Landgraf P, Muntau AC, Holzinger A, Gerber JK, Kammerer S, Adamski J, Roscher AA. Human adrenoleukodystrophy protein and related peroxisomal ABC transporters interact with the peroxisomal assembly protein PEX19p. Biochem. Biophys. Res. Commun. April 2000, 271 (1): 144–50. PMID 10777694. doi:10.1006/bbrc.2000.2572.
^ Sacksteder KA, Jones JM, South ST, Li X, Liu Y, Gould SJ. PEX19 binds multiple peroxisomal membrane proteins, is predominantly cytoplasmic, and is required for peroxisome membrane synthesis. J. Cell Biol. March 2000, 148 (5): 931–44. PMC 2174547  . PMID 10704444. doi:10.1083/jcb.148.5.931.
^ Biermanns M, Gärtner J. Targeting elements in the amino-terminal part direct the human 70-kDa peroxisomal integral membrane protein (PMP70) to peroxisomes. Biochem. Biophys. Res. Commun. July 2001, 285 (3): 649–55. PMID 11453642. doi:10.1006/bbrc.2001.5220.

延申阅读

Gärtner J, Valle D. The 70 kDa peroxisomal membrane protein: an ATP-binding cassette transporter protein involved in peroxisome biogenesis. Semin. Cell Biol. 1993, 4 (1): 45–52. PMID 8453064. doi:10.1006/scel.1993.1006.
Gärtner J, Obie C, Moser H, Valle D. A polymorphic synonymous mutation (K54K) in the human 70 kD peroxisomal membrane protein gene (PMP1). Hum. Mol. Genet. 1993, 1 (8): 654. PMID 1301179. doi:10.1093/hmg/1.8.654.
Kamijo K, Kamijo T, Ueno I, Osumi T, Hashimoto T. Nucleotide sequence of the human 70 kDa peroxisomal membrane protein: a member of ATP-binding cassette transporters. Biochim. Biophys. Acta. 1992, 1129 (3): 323–7. PMID 1536884. doi:10.1016/0167-4781(92)90510-7.
Gärtner J, Kearns W, Rosenberg C, Pearson P, Copeland NG, Gilbert DJ, Jenkins NA, Valle D. Localization of the 70-kDa peroxisomal membrane protein to human 1p21-p22 and mouse 3. Genomics. 1993, 15 (2): 412–4. PMID 8449508. doi:10.1006/geno.1993.1076  .
Shimozawa N, Suzuki Y, Tomatsu S, Tsukamoto T, Osumi T, Fujiki Y, Kamijo K, Hashimoto T, Kondo N, Orii T. Correction by gene expression of biochemical abnormalities in fibroblasts from Zellweger patients. Pediatr. Res. 1996, 39 (5): 812–5. PMID 8726233. doi:10.1203/00006450-199605000-00011  .
Kobayashi T, Shinnoh N, Kondo A, Yamada T. Adrenoleukodystrophy protein-deficient mice represent abnormality of very long chain fatty acid metabolism. Biochem. Biophys. Res. Commun. 1997, 232 (3): 631–6. PMID 9126326. doi:10.1006/bbrc.1997.6340.
Paton BC, Heron SE, Nelson PV, Morris CP, Poulos A. Absence of mutations raises doubts about the role of the 70-kD peroxisomal membrane protein in Zellweger syndrome. Am. J. Hum. Genet. 1997, 60 (6): 1535–9. PMC 1716138  . PMID 9199576. doi:10.1016/S0002-9297(07)64247-5.
Gärtner J, Jimenez-Sanchez G, Roerig P, Valle D. Genomic organization of the 70-kDa peroxisomal membrane protein gene (PXMP1). Genomics. 1998, 48 (2): 203–8. PMID 9521874. doi:10.1006/geno.1997.5177  .
Collins CS, Gould SJ. Identification of a common PEX1 mutation in Zellweger syndrome. Hum. Mutat. 1999, 14 (1): 45–53. PMID 10447258. S2CID 22153024. doi:10.1002/(SICI)1098-1004(1999)14:1<45::AID-HUMU6>3.0.CO;2-J  .
Liu LX, Janvier K, Berteaux-Lecellier V, Cartier N, Benarous R, Aubourg P. Homo- and heterodimerization of peroxisomal ATP-binding cassette half-transporters. J. Biol. Chem. 2000, 274 (46): 32738–43. PMID 10551832. doi:10.1074/jbc.274.46.32738  .
Sacksteder KA, Jones JM, South ST, Li X, Liu Y, Gould SJ. PEX19 binds multiple peroxisomal membrane proteins, is predominantly cytoplasmic, and is required for peroxisome membrane synthesis. J. Cell Biol. 2000, 148 (5): 931–44. PMC 2174547  . PMID 10704444. doi:10.1083/jcb.148.5.931.
Gloeckner CJ, Mayerhofer PU, Landgraf P, Muntau AC, Holzinger A, Gerber JK, Kammerer S, Adamski J, Roscher AA. Human adrenoleukodystrophy protein and related peroxisomal ABC transporters interact with the peroxisomal assembly protein PEX19p. Biochem. Biophys. Res. Commun. 2000, 271 (1): 144–50. PMID 10777694. doi:10.1006/bbrc.2000.2572.
Roerig P, Mayerhofer P, Holzinger A, Gärtner J. Characterization and functional analysis of the nucleotide binding fold in human peroxisomal ATP binding cassette transporters. FEBS Lett. 2001, 492 (1–2): 66–72. PMID 11248239. doi:10.1016/S0014-5793(01)02235-9  .
Biermanns M, Gärtner J. Targeting elements in the amino-terminal part direct the human 70-kDa peroxisomal integral membrane protein (PMP70) to peroxisomes. Biochem. Biophys. Res. Commun. 2001, 285 (3): 649–55. PMID 11453642. doi:10.1006/bbrc.2001.5220.
Mayerhofer PU, Kattenfeld T, Roscher AA, Muntau AC. Two splice variants of human PEX19 exhibit distinct functions in peroxisomal assembly. Biochem. Biophys. Res. Commun. 2002, 291 (5): 1180–6. PMID 11883941. doi:10.1006/bbrc.2002.6568.
Tanaka AR, Tanabe K, Morita M, Kurisu M, Kasiwayama Y, Matsuo M, Kioka N, Amachi T, Imanaka T, Ueda K. ATP binding/hydrolysis by and phosphorylation of peroxisomal ATP-binding cassette proteins PMP70 (ABCD3) and adrenoleukodystrophy protein (ABCD1). J. Biol. Chem. 2002, 277 (42): 40142–7. PMID 12176987. doi:10.1074/jbc.M205079200  .
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. Towards a proteome-scale map of the human protein-protein interaction network. Nature. 2005, 437 (7062): 1173–8. Bibcode:2005Natur.437.1173R. PMID 16189514. S2CID 4427026. doi:10.1038/nature04209.

外部链接

医学主题词表（MeSH）：ABCD3+protein,+human
ABCD3 at The GDB Human Genome Database
Human ABCD3 genome location and ABCD3 gene details page in the UCSC Genome Browser（英语：UCSC Genome Browser）.

这是一篇膜蛋白小作品。您可以通过编辑或修订扩充其内容。

[1] 與ABCD3相關的疾病；在維基數據上查看/編輯參考.

[refGRCh38Ensembl-2] 2.0 ^2.1 ^2.2 GRCh38: Ensembl release 89: ENSG00000117528 - Ensembl, May 2017

[refGRCm38Ensembl-3] 3.0 ^3.1 ^3.2 GRCm38: Ensembl release 89: ENSMUSG00000028127 - Ensembl, May 2017

[4] Human PubMed Reference:. National Center for Biotechnology Information, U.S. National Library of Medicine.

[5] Mouse PubMed Reference:. National Center for Biotechnology Information, U.S. National Library of Medicine.

[pmid1301993-6] Gärtner J, Moser H, Valle D. Mutations in the 70K peroxisomal membrane protein gene in Zellweger syndrome. Nat Genet. June 1993, 1 (1): 16–23. PMID 1301993. S2CID 5779170. doi:10.1038/ng0492-16.

[pmid8449508-7] Gärtner J, Kearns W, Rosenberg C, Pearson P, Copeland NG, Gilbert DJ, Jenkins NA, Valle D. Localization of the 70-kDa peroxisomal membrane protein to human 1p21-p22 and mouse 3. Genomics. April 1993, 15 (2): 412–4. PMID 8449508. doi:10.1006/geno.1993.1076  .

[entrez-8] 8.0 ^8.1 Entrez Gene: ABCD3 ATP-binding cassette, sub-family D (ALD), member 3.

[9] Paton, B. C.; Heron, S. E.; Nelson, P. V.; Morris, C. P.; Poulos, A. Absence of mutations raises doubts about the role of the 70-kD peroxisomal membrane protein in Zellweger syndrome. American Journal of Human Genetics. 1997, 60 (6): 1535–9. PMC 1716138  . PMID 9199576. doi:10.1016/S0002-9297(07)64247-5.

[10] 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. A novel bile acid biosynthesis defect due to a deficiency of peroxisomal ABCD3. Human Molecular Genetics. 2015, 24 (2): 361–70. PMID 25168382. doi:10.1093/hmg/ddu448  .

[pmid11883941-11] Mayerhofer PU, Kattenfeld T, Roscher AA, Muntau AC. Two splice variants of human PEX19 exhibit distinct functions in peroxisomal assembly. Biochem. Biophys. Res. Commun. March 2002, 291 (5): 1180–6. PMID 11883941. doi:10.1006/bbrc.2002.6568.

[pmid10777694-12] Gloeckner CJ, Mayerhofer PU, Landgraf P, Muntau AC, Holzinger A, Gerber JK, Kammerer S, Adamski J, Roscher AA. Human adrenoleukodystrophy protein and related peroxisomal ABC transporters interact with the peroxisomal assembly protein PEX19p. Biochem. Biophys. Res. Commun. April 2000, 271 (1): 144–50. PMID 10777694. doi:10.1006/bbrc.2000.2572.

[pmid10704444-13] Sacksteder KA, Jones JM, South ST, Li X, Liu Y, Gould SJ. PEX19 binds multiple peroxisomal membrane proteins, is predominantly cytoplasmic, and is required for peroxisome membrane synthesis. J. Cell Biol. March 2000, 148 (5): 931–44. PMC 2174547  . PMID 10704444. doi:10.1083/jcb.148.5.931.

[pmid11453642-14] Biermanns M, Gärtner J. Targeting elements in the amino-terminal part direct the human 70-kDa peroxisomal integral membrane protein (PMP70) to peroxisomes. Biochem. Biophys. Res. Commun. July 2001, 285 (3): 649–55. PMID 11453642. doi:10.1006/bbrc.2001.5220.

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