ABCD3

ABCD3
識別號
別名	ABCD3；, ABC43, PMP70, PXMP1, ZWS2, CBAS5, ATP binding cassette subfamily D member 3
外部ID	OMIM：170995 MGI：1349216 HomoloGene：2140 GeneCards：ABCD3
相關疾病
	congenital bile acid synthesis defect 5
基因位置（人類）
染色體	1號染色體
終止	94,518,666 bp
基因位置（小鼠）
染色體	小鼠3號染色體
終止	121,608,951 bp
RNA表達模式
	查閱更多表達數據
基因本體
分子功能	• ATPase-coupled transmembrane transporter activity; • 核苷酸結合; • protein homodimerization activity; • 蛋白質自締合; • ATPase activity; • 血漿蛋白結合; • ATP結合; • long-chain fatty acid transporter activity;
細胞組分	• integral component of membrane; • 細胞質基質; • 膜; • 細胞內膜結合細胞器; • peroxisomal membrane; • 過氧化物酶體; • peroxisomal matrix; • 線粒體; • mitochondrial inner membrane;
生物學過程	• 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
	維基數據
檢視/編輯人類	檢視/編輯小鼠

ATP結合盒轉運蛋白亞族D成員3（英語：ATP-binding cassette subfamily D member 3）是一種在人類中由ABCD3基因編碼的蛋白質。^[6]^[7]^[8]

功能

由該基因編碼的蛋白質是ATP結合盒轉運蛋白（簡稱ABC轉運蛋白）超家族的成員。ABC轉運蛋白可跨細胞外膜和細胞內膜轉運各種分子。ABC基因分為七個不同的亞家族（A、B、C、D、E、F、G）。這種蛋白質是D亞族（也叫ALD亞族）的成員，它參與細胞器中脂肪酸和/或脂酰輔酶A的過氧化物酶體輸入。所有已知的過氧化物酶體ABC轉運蛋白都是半轉運蛋白，需要伴侶半轉運蛋白分子來形成功能性同二聚體或異二聚體轉運蛋白。這種過氧化物酶體膜蛋白可能在過氧化物酶體生物發生中起重要作用。

臨床意義

突變與某些形式的腦肝腎綜合症有關，腦肝腎綜合症是一組異質的過氧化物酶體組裝障礙。^[8]然而，這種關聯被否認，^[9]而先天性膽汁酸合成缺陷5（CBAS5）則在最近被證明是由ABCD3基因的純合突變引起的^[10]

相互作用

ABCD3已被證明能與PEX19 相互作用。^[11]^[12]^[13]^[14]

參見

ATP結合盒轉運蛋白

參考資料

^ 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.

延申閱讀

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.

外部連結

醫學主題詞表（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（英語：UCSC Genome Browser）.

這是一篇膜蛋白小作品。您可以透過編輯或修訂擴充其內容。

[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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