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<!-- The PBB_Controls template provides controls for Protein Box Bot, please see Template:PBB_Controls for details. -->
{{Infobox_gene}}
{{PBB_Controls
'''ATP-binding cassette sub-family D member 3''' is a [[protein]] that in humans is encoded by the ''ABCD3'' [[gene]].<ref name="pmid1301993">{{cite journal | vauthors = Gärtner J, Moser H, Valle D | title = Mutations in the 70K peroxisomal membrane protein gene in Zellweger syndrome | journal = Nat Genet | volume = 1 | issue = 1 | pages = 16–23 | date = June 1993 | pmid = 1301993 | pmc =  | doi = 10.1038/ng0492-16 }}</ref><ref name="pmid8449508">{{cite journal | vauthors = Gärtner J, Kearns W, Rosenberg C, Pearson P, Copeland NG, Gilbert DJ, Jenkins NA, Valle D | title = Localization of the 70-kDa peroxisomal membrane protein to human 1p21-p22 and mouse 3 | journal = Genomics | volume = 15 | issue = 2 | pages = 412–4 | date = April 1993 | pmid = 8449508 | pmc = | doi = 10.1006/geno.1993.1076 }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: ABCD3 ATP-binding cassette, sub-family D (ALD), member 3| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=5825| accessdate = }}</ref>
| update_page = yes
| require_manual_inspection = no
| update_protein_box = yes
| update_summary = yes
| update_citations = yes
}}


<!-- The GNF_Protein_box is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
== Function ==
{{GNF_Protein_box
| image =
| image_source =
| PDB =
| Name = ATP-binding cassette, sub-family D (ALD), member 3
| HGNCid = 67
| Symbol = ABCD3
| AltSymbols =; PXMP1; ABC43; PMP70
| OMIM = 170995
| ECnumber = 
| Homologene = 2140
| MGIid = 1349216
| GeneAtlas_image1 = PBB_GE_ABCD3_202850_at_tn.png
| Function = {{GNF_GO|id=GO:0000166 |text = nucleotide binding}} {{GNF_GO|id=GO:0005515 |text = protein binding}} {{GNF_GO|id=GO:0005524 |text = ATP binding}} {{GNF_GO|id=GO:0016887 |text = ATPase activity}} {{GNF_GO|id=GO:0042626 |text = ATPase activity, coupled to transmembrane movement of substances}}
| Component = {{GNF_GO|id=GO:0005739 |text = mitochondrion}} {{GNF_GO|id=GO:0005743 |text = mitochondrial inner membrane}} {{GNF_GO|id=GO:0005777 |text = peroxisome}} {{GNF_GO|id=GO:0005778 |text = peroxisomal membrane}} {{GNF_GO|id=GO:0005779 |text = integral to peroxisomal membrane}} {{GNF_GO|id=GO:0016020 |text = membrane}} {{GNF_GO|id=GO:0016021 |text = integral to membrane}}
| Process = {{GNF_GO|id=GO:0006810 |text = transport}} {{GNF_GO|id=GO:0007031 |text = peroxisome organization and biogenesis}} {{GNF_GO|id=GO:0015910 |text = peroxisomal long-chain fatty acid import}}
| Orthologs = {{GNF_Ortholog_box
    | Hs_EntrezGene = 5825
    | Hs_Ensembl = ENSG00000117528
    | Hs_RefseqProtein = NP_002849
    | Hs_RefseqmRNA = NM_002858
    | Hs_GenLoc_db = 
    | Hs_GenLoc_chr = 1
    | Hs_GenLoc_start = 94656584
    | Hs_GenLoc_end = 94756807
    | Hs_Uniprot = P28288
    | Mm_EntrezGene = 19299
    | Mm_Ensembl = ENSMUSG00000028127
    | Mm_RefseqmRNA = NM_008991
    | Mm_RefseqProtein = NP_033017
    | Mm_GenLoc_db = 
    | Mm_GenLoc_chr = 3
    | Mm_GenLoc_start = 121750933
    | Mm_GenLoc_end = 121807238
    | Mm_Uniprot = Q3U645
  }}
}}
'''ATP-binding cassette, sub-family D (ALD), member 3''', also known as '''ABCD3''', is a human [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: ABCD3 ATP-binding cassette, sub-family D (ALD), member 3| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=5825| accessdate = }}</ref>


<!-- The PBB_Summary template is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
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.
{{PBB_Summary
| section_title =
| summary_text = 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.<ref name="entrez">{{cite web | title = Entrez Gene: ABCD3 ATP-binding cassette, sub-family D (ALD), member 3| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=5825| accessdate = }}</ref>
}}


==See also==
== Clinical significance ==
 
Mutations have been associated with some forms of [[Zellweger syndrome]], a heterogeneous group of peroxisome assembly disorders.<ref name="entrez"/>
 
== See also ==
* [[ATP-binding cassette transporter]]
* [[ATP-binding cassette transporter]]


==References==
== Interactions ==
{{reflist|2}}


==Further reading==
ABCD3 has been shown to [[Protein-protein interaction|interact]] with [[PEX19]].<ref name = pmid11883941>{{cite journal | vauthors = Mayerhofer PU, Kattenfeld T, Roscher AA, Muntau AC | title = Two splice variants of human PEX19 exhibit distinct functions in peroxisomal assembly | journal = Biochem. Biophys. Res. Commun. | volume = 291 | issue = 5 | pages = 1180–6 | date = March 2002 | pmid = 11883941 | doi = 10.1006/bbrc.2002.6568 }}</ref><ref name = pmid10777694>{{cite journal | vauthors = Gloeckner CJ, Mayerhofer PU, Landgraf P, Muntau AC, Holzinger A, Gerber JK, Kammerer S, Adamski J, Roscher AA | title = Human adrenoleukodystrophy protein and related peroxisomal ABC transporters interact with the peroxisomal assembly protein PEX19p | journal = Biochem. Biophys. Res. Commun. | volume = 271 | issue = 1 | pages = 144–50 | date = April 2000 | pmid = 10777694 | doi = 10.1006/bbrc.2000.2572 }}</ref><ref name = pmid10704444>{{cite journal | vauthors = Sacksteder KA, Jones JM, South ST, Li X, Liu Y, Gould SJ | title = PEX19 binds multiple peroxisomal membrane proteins, is predominantly cytoplasmic, and is required for peroxisome membrane synthesis | journal = J. Cell Biol. | volume = 148 | issue = 5 | pages = 931–44 | date = March 2000 | pmid = 10704444 | pmc = 2174547 | doi = 10.1083/jcb.148.5.931 }}</ref><ref name = pmid11453642>{{cite journal | vauthors = Biermanns M, Gärtner J | title = Targeting elements in the amino-terminal part direct the human 70-kDa peroxisomal integral membrane protein (PMP70) to peroxisomes | journal = Biochem. Biophys. Res. Commun. | volume = 285 | issue = 3 | pages = 649–55 | date = July 2001 | pmid = 11453642 | doi = 10.1006/bbrc.2001.5220 }}</ref>
{{refbegin | 2}}
{{-}}
{{PBB_Further_reading
 
| citations =
== References ==
*{{cite journal  | author=Gärtner J, Valle D |title=The 70 kDa peroxisomal membrane protein: an ATP-binding cassette transporter protein involved in peroxisome biogenesis. |journal=Semin. Cell Biol. |volume=4 |issue= 1 |pages= 45-52 |year= 1993 |pmid= 8453064 |doi= }}
{{reflist|35em}}
*{{cite journal | author=Gärtner J, Obie C, Moser H, Valle D |title=A polymorphic synonymous mutation (K54K) in the human 70 kD peroxisomal membrane protein gene (PMP1). |journal=Hum. Mol. Genet. |volume=1 |issue= 8 |pages= 654 |year= 1993 |pmid= 1301179 |doi= }}
 
*{{cite journal | author=Gärtner J, Moser H, Valle D |title=Mutations in the 70K peroxisomal membrane protein gene in Zellweger syndrome. |journal=Nat. Genet. |volume=1 |issue= 1 |pages= 16-23 |year= 1993 |pmid= 1301993 |doi= 10.1038/ng0492-16 }}
== Further reading ==
*{{cite journal | author=Kamijo K, Kamijo T, Ueno I, ''et al.'' |title=Nucleotide sequence of the human 70 kDa peroxisomal membrane protein: a member of ATP-binding cassette transporters. |journal=Biochim. Biophys. Acta |volume=1129 |issue= 3 |pages= 323-7 |year= 1992 |pmid= 1536884 |doi= }}
{{refbegin|35em}}
*{{cite journal  | author=Gärtner J, Kearns W, Rosenberg C, ''et al.'' |title=Localization of the 70-kDa peroxisomal membrane protein to human 1p21-p22 and mouse 3. |journal=Genomics |volume=15 |issue= 2 |pages= 412-4 |year= 1993 |pmid= 8449508 |doi= 10.1006/geno.1993.1076 }}
* {{cite journal | vauthors = Gärtner J, Valle D | title = The 70 kDa peroxisomal membrane protein: an ATP-binding cassette transporter protein involved in peroxisome biogenesis | journal = Semin. Cell Biol. | volume = 4 | issue = 1 | pages = 45–52 | year = 1993 | pmid = 8453064 | doi = 10.1006/scel.1993.1006 }}
*{{cite journal  | author=Shimozawa N, Suzuki Y, Tomatsu S, ''et al.'' |title=Correction by gene expression of biochemical abnormalities in fibroblasts from Zellweger patients. |journal=Pediatr. Res. |volume=39 |issue= 5 |pages= 812-5 |year= 1996 |pmid= 8726233 |doi=  }}
* {{cite journal | vauthors = Gärtner J, Obie C, Moser H, Valle D | title = A polymorphic synonymous mutation (K54K) in the human 70 kD peroxisomal membrane protein gene (PMP1) | journal = Hum. Mol. Genet. | volume = 1 | issue = 8 | pages = 654 | year = 1993 | pmid = 1301179 | doi = 10.1093/hmg/1.8.654 }}
*{{cite journal | author=Kobayashi T, Shinnoh N, Kondo A, Yamada T |title=Adrenoleukodystrophy protein-deficient mice represent abnormality of very long chain fatty acid metabolism. |journal=Biochem. Biophys. Res. Commun. |volume=232 |issue= 3 |pages= 631-6 |year= 1997 |pmid= 9126326 |doi= 10.1006/bbrc.1997.6340 }}
* {{cite journal | vauthors = Kamijo K, Kamijo T, Ueno I, Osumi T, Hashimoto T | title = Nucleotide sequence of the human 70 kDa peroxisomal membrane protein: a member of ATP-binding cassette transporters | journal = Biochim. Biophys. Acta | volume = 1129 | issue = 3 | pages = 323–7 | year = 1992 | pmid = 1536884 | doi = 10.1016/0167-4781(92)90510-7 }}
*{{cite journal | author=Paton BC, Heron SE, Nelson PV, ''et al.'' |title=Absence of mutations raises doubts about the role of the 70-kD peroxisomal membrane protein in Zellweger syndrome. |journal=Am. J. Hum. Genet. |volume=60 |issue= 6 |pages= 1535-9 |year= 1997 |pmid= 9199576 |doi= }}
* {{cite journal | vauthors = Gärtner J, Kearns W, Rosenberg C, Pearson P, Copeland NG, Gilbert DJ, Jenkins NA, Valle D | title = Localization of the 70-kDa peroxisomal membrane protein to human 1p21-p22 and mouse 3 | journal = Genomics | volume = 15 | issue = 2 | pages = 412–4 | year = 1993 | pmid = 8449508 | doi = 10.1006/geno.1993.1076 }}
*{{cite journal | author=Gärtner J, Jimenez-Sanchez G, Roerig P, Valle D |title=Genomic organization of the 70-kDa peroxisomal membrane protein gene (PXMP1). |journal=Genomics |volume=48 |issue= 2 |pages= 203-8 |year= 1998 |pmid= 9521874 |doi= 10.1006/geno.1997.5177 }}
* {{cite journal | vauthors = Shimozawa N, Suzuki Y, Tomatsu S, Tsukamoto T, Osumi T, Fujiki Y, Kamijo K, Hashimoto T, Kondo N, Orii T | title = Correction by gene expression of biochemical abnormalities in fibroblasts from Zellweger patients | journal = Pediatr. Res. | volume = 39 | issue = 5 | pages = 812–5 | year = 1996 | pmid = 8726233 | doi = 10.1203/00006450-199605000-00011 }}
*{{cite journal | author=Collins CS, Gould SJ |title=Identification of a common PEX1 mutation in Zellweger syndrome. |journal=Hum. Mutat. |volume=14 |issue= 1 |pages= 45-53 |year= 1999 |pmid= 10447258 |doi= 10.1002/(SICI)1098-1004(1999)14:1<45::AID-HUMU6>3.0.CO;2-J }}
* {{cite journal | vauthors = Kobayashi T, Shinnoh N, Kondo A, Yamada T | title = Adrenoleukodystrophy protein-deficient mice represent abnormality of very long chain fatty acid metabolism | journal = Biochem. Biophys. Res. Commun. | volume = 232 | issue = 3 | pages = 631–6 | year = 1997 | pmid = 9126326 | doi = 10.1006/bbrc.1997.6340 }}
*{{cite journal | author=Liu LX, Janvier K, Berteaux-Lecellier V, ''et al.'' |title=Homo- and heterodimerization of peroxisomal ATP-binding cassette half-transporters. |journal=J. Biol. Chem. |volume=274 |issue= 46 |pages= 32738-43 |year= 2000 |pmid= 10551832 |doi= }}
* {{cite journal | vauthors = Paton BC, Heron SE, Nelson PV, Morris CP, Poulos A | title = Absence of mutations raises doubts about the role of the 70-kD peroxisomal membrane protein in Zellweger syndrome | journal = Am. J. Hum. Genet. | volume = 60 | issue = 6 | pages = 1535–9 | year = 1997 | pmid = 9199576 | pmc = 1716138 | doi = 10.1016/S0002-9297(07)64247-5 }}
*{{cite journal | author=Sacksteder KA, Jones JM, South ST, ''et al.'' |title=PEX19 binds multiple peroxisomal membrane proteins, is predominantly cytoplasmic, and is required for peroxisome membrane synthesis. |journal=J. Cell Biol. |volume=148 |issue= 5 |pages= 931-44 |year= 2000 |pmid= 10704444 |doi= }}
* {{cite journal | vauthors = Gärtner J, Jimenez-Sanchez G, Roerig P, Valle D | title = Genomic organization of the 70-kDa peroxisomal membrane protein gene (PXMP1) | journal = Genomics | volume = 48 | issue = 2 | pages = 203–8 | year = 1998 | pmid = 9521874 | doi = 10.1006/geno.1997.5177 }}
*{{cite journal | author=Gloeckner CJ, Mayerhofer PU, Landgraf P, ''et al.'' |title=Human adrenoleukodystrophy protein and related peroxisomal ABC transporters interact with the peroxisomal assembly protein PEX19p. |journal=Biochem. Biophys. Res. Commun. |volume=271 |issue= 1 |pages= 144-50 |year= 2000 |pmid= 10777694 |doi= 10.1006/bbrc.2000.2572 }}
* {{cite journal | vauthors = Collins CS, Gould SJ | title = Identification of a common PEX1 mutation in Zellweger syndrome | journal = Hum. Mutat. | volume = 14 | issue = 1 | pages = 45–53 | year = 1999 | pmid = 10447258 | doi = 10.1002/(SICI)1098-1004(1999)14:1<45::AID-HUMU6>3.0.CO;2-J }}
*{{cite journal | author=Roerig P, Mayerhofer P, Holzinger A, Gärtner J |title=Characterization and functional analysis of the nucleotide binding fold in human peroxisomal ATP binding cassette transporters. |journal=FEBS Lett. |volume=492 |issue= 1-2 |pages= 66-72 |year= 2001 |pmid= 11248239 |doi= }}
* {{cite journal | vauthors = Liu LX, Janvier K, Berteaux-Lecellier V, Cartier N, Benarous R, Aubourg P | title = Homo- and heterodimerization of peroxisomal ATP-binding cassette half-transporters | journal = J. Biol. Chem. | volume = 274 | issue = 46 | pages = 32738–43 | year = 2000 | pmid = 10551832 | doi = 10.1074/jbc.274.46.32738 }}
*{{cite journal  | author=Biermanns M, Gärtner J |title=Targeting elements in the amino-terminal part direct the human 70-kDa peroxisomal integral membrane protein (PMP70) to peroxisomes. |journal=Biochem. Biophys. Res. Commun. |volume=285 |issue= 3 |pages= 649-55 |year= 2001 |pmid= 11453642 |doi= 10.1006/bbrc.2001.5220 }}
* {{cite journal | vauthors = Sacksteder KA, Jones JM, South ST, Li X, Liu Y, Gould SJ | title = PEX19 binds multiple peroxisomal membrane proteins, is predominantly cytoplasmic, and is required for peroxisome membrane synthesis | journal = J. Cell Biol. | volume = 148 | issue = 5 | pages = 931–44 | year = 2000 | pmid = 10704444 | pmc = 2174547 | doi = 10.1083/jcb.148.5.931 }}
*{{cite journal | author=Mayerhofer PU, Kattenfeld T, Roscher AA, Muntau AC |title=Two splice variants of human PEX19 exhibit distinct functions in peroxisomal assembly. |journal=Biochem. Biophys. Res. Commun. |volume=291 |issue= 5 |pages= 1180-6 |year= 2002 |pmid= 11883941 |doi= 10.1006/bbrc.2002.6568 }}
* {{cite journal | vauthors = Gloeckner CJ, Mayerhofer PU, Landgraf P, Muntau AC, Holzinger A, Gerber JK, Kammerer S, Adamski J, Roscher AA | title = Human adrenoleukodystrophy protein and related peroxisomal ABC transporters interact with the peroxisomal assembly protein PEX19p | journal = Biochem. Biophys. Res. Commun. | volume = 271 | issue = 1 | pages = 144–50 | year = 2000 | pmid = 10777694 | doi = 10.1006/bbrc.2000.2572 }}
*{{cite journal | author=Tanaka AR, Tanabe K, Morita M, ''et al.'' |title=ATP binding/hydrolysis by and phosphorylation of peroxisomal ATP-binding cassette proteins PMP70 (ABCD3) and adrenoleukodystrophy protein (ABCD1). |journal=J. Biol. Chem. |volume=277 |issue= 42 |pages= 40142-7 |year= 2002 |pmid= 12176987 |doi= 10.1074/jbc.M205079200 }}
* {{cite journal | vauthors = Roerig P, Mayerhofer P, Holzinger A, Gärtner J | title = Characterization and functional analysis of the nucleotide binding fold in human peroxisomal ATP binding cassette transporters | journal = FEBS Lett. | volume = 492 | issue = 1–2 | pages = 66–72 | year = 2001 | pmid = 11248239 | doi = 10.1016/S0014-5793(01)02235-9 }}
*{{cite journal | author=Strausberg RL, Feingold EA, Grouse LH, ''et al.'' |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899-903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 }}
* {{cite journal | vauthors = Biermanns M, Gärtner J | title = Targeting elements in the amino-terminal part direct the human 70-kDa peroxisomal integral membrane protein (PMP70) to peroxisomes | journal = Biochem. Biophys. Res. Commun. | volume = 285 | issue = 3 | pages = 649–55 | year = 2001 | pmid = 11453642 | doi = 10.1006/bbrc.2001.5220 }}
*{{cite journal  | author=Rual JF, Venkatesan K, Hao T, ''et al.'' |title=Towards a proteome-scale map of the human protein-protein interaction network. |journal=Nature |volume=437 |issue= 7062 |pages= 1173-8 |year= 2005 |pmid= 16189514 |doi= 10.1038/nature04209 }}
* {{cite journal | vauthors = Mayerhofer PU, Kattenfeld T, Roscher AA, Muntau AC | title = Two splice variants of human PEX19 exhibit distinct functions in peroxisomal assembly | journal = Biochem. Biophys. Res. Commun. | volume = 291 | issue = 5 | pages = 1180–6 | year = 2002 | pmid = 11883941 | doi = 10.1006/bbrc.2002.6568 }}
}}
* {{cite journal | vauthors = Tanaka AR, Tanabe K, Morita M, Kurisu M, Kasiwayama Y, Matsuo M, Kioka N, Amachi T, Imanaka T, Ueda K | title = ATP binding/hydrolysis by and phosphorylation of peroxisomal ATP-binding cassette proteins PMP70 (ABCD3) and adrenoleukodystrophy protein (ABCD1) | journal = J. Biol. Chem. | volume = 277 | issue = 42 | pages = 40142–7 | year = 2002 | pmid = 12176987 | doi = 10.1074/jbc.M205079200 }}
* {{cite journal | vauthors = 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 | title = Towards a proteome-scale map of the human protein-protein interaction network | journal = Nature | volume = 437 | issue = 7062 | pages = 1173–8 | year = 2005 | pmid = 16189514 | doi = 10.1038/nature04209 }}
{{refend}}
{{refend}}


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* {{MeshName|ABCD3+protein,+human}}
* {{MeshName|ABCD3+protein,+human}}
*[http://www.gdb.org/gdb-bin/genera/genera/hgd/GenomicSegment?!action=query&displayName=abcd3 ABCD3 at The GDB Human Genome Database]
*[http://www.gdb.org/gdb-bin/genera/genera/hgd/GenomicSegment?!action=query&displayName=abcd3 ABCD3 at The GDB Human Genome Database]
* {{UCSC gene info|ABCD3}}


{{membrane-protein-stub}}
{{NLM content}}
{{NLM content}}
{{Membrane transport proteins}}
{{ABC transporters}}
 
{{DEFAULTSORT:Abcd3}}
[[Category:ABC transporters]]
[[Category:ABC transporters]]
{{WikiDoc Sources}}
 
 
{{membrane-protein-stub}}

Latest revision as of 02:06, 27 October 2017

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Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez

n/a

n/a

Ensembl

n/a

n/a

UniProt

n/a

n/a

RefSeq (mRNA)

n/a

n/a

RefSeq (protein)

n/a

n/a

Location (UCSC)n/an/a
PubMed searchn/an/a
Wikidata
View/Edit Human

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

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.[3]

See also

Interactions

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

References

  1. ↑ 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.
  2. ↑ 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.
  3. ↑ 3.0 3.1 "Entrez Gene: ABCD3 ATP-binding cassette, sub-family D (ALD), member 3".
  4. ↑ 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.
  5. ↑ 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.
  6. ↑ 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.
  7. ↑ 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.
  • 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. doi:10.1038/nature04209. PMID 16189514.

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