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{{Infobox_gene}}
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'''ATP-binding cassette sub-family A member 3''' is a [[protein]] that in humans is encoded by the ''ABCA3'' [[gene]].<ref name="pmid8706931">{{cite journal |vauthors=Klugbauer N, Hofmann F | title = Primary structure of a novel ABC transporter with a chromosomal localization on the band encoding the multidrug resistance-associated protein | journal = FEBS Lett | volume = 391 | issue = 1–2 | pages = 61–5 |date=Sep 1996 | pmid = 8706931 | pmc =  | doi =10.1016/0014-5793(96)00700-4 }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: ABCA3 ATP-binding cassette, sub-family A (ABC1), member 3| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=21| accessdate = }}</ref>
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{{GNF_Protein_box
| image = 
| image_source = 
| PDB =
| Name = ATP-binding cassette, sub-family A (ABC1), member 3
| HGNCid = 33
| Symbol = ABCA3
| AltSymbols =; ABC-C; ABC3; EST111653; LBM180; MGC72201
| OMIM = 601615
| ECnumber = 
| Homologene = 37437
| MGIid = 1351617
| GeneAtlas_image1 = PBB_GE_ABCA3_204343_at_tn.png
| Function = {{GNF_GO|id=GO:0000166 |text = nucleotide binding}} {{GNF_GO|id=GO:0005215 |text = transporter activity}} {{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:0005624 |text = membrane fraction}} {{GNF_GO|id=GO:0005886 |text = plasma membrane}} {{GNF_GO|id=GO:0016021 |text = integral to membrane}} {{GNF_GO|id=GO:0042599 |text = lamellar body}}
  | Process = {{GNF_GO|id=GO:0006810 |text = transport}} {{GNF_GO|id=GO:0042493 |text = response to drug}}
| Orthologs = {{GNF_Ortholog_box
    | Hs_EntrezGene = 21
    | Hs_Ensembl = ENSG00000167972
    | Hs_RefseqProtein = NP_001080
    | Hs_RefseqmRNA = NM_001089
    | Hs_GenLoc_db = 
    | Hs_GenLoc_chr = 16
    | Hs_GenLoc_start = 2265886
    | Hs_GenLoc_end = 2330748
    | Hs_Uniprot = Q99758
    | Mm_EntrezGene = 27410
    | Mm_Ensembl = ENSMUSG00000024130
    | Mm_RefseqmRNA = NM_001039581
    | Mm_RefseqProtein = NP_001034670
    | Mm_GenLoc_db =   
    | Mm_GenLoc_chr = 17
    | Mm_GenLoc_start = 24079728
    | Mm_GenLoc_end = 24137800
    | Mm_Uniprot = Q3TN91
  }}
}}
'''ATP-binding cassette, sub-family A (ABC1), member 3''', also known as '''ABCA3''', is a human [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: ABCA3 ATP-binding cassette, sub-family A (ABC1), member 3| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=21| accessdate = }}</ref>


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{{PBB_Summary
{{PBB_Summary
| section_title =  
| section_title =  
| summary_text = The membrane-associated 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 intracellular membranes.  ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White).  This protein is a member of the ABC1 subfamily.  Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes.  The full transporter encoded by this gene may be involved in development of resistance to xenobiotics and engulfment during programmed cell death.<ref name="entrez">{{cite web | title = Entrez Gene: ABCA3 ATP-binding cassette, sub-family A (ABC1), member 3| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=21| accessdate = }}</ref>
| summary_text = The membrane-associated 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 intracellular membranes.  ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White).  This protein is a member of the ABC1 subfamily.  Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes.  The full transporter encoded by this gene may be involved in development of resistance to xenobiotics and engulfment during programmed cell death.<ref name="entrez"/>
}}
}}
== Clinical significance ==
Mutations in ABCA3 are associated to {{SWL|type=mutations_associated_to|target=cataract-microcornea syndrome|label=cataract-microcornea syndrome}}.<ref>{{Cite journal
| pmid = 25406294
| year = 2014
| author1 = Chen
| first1 = P
| title = Mutations in the ABCA3 gene are associated with cataract-microcornea syndrome
| journal = Investigative Ophthalmology & Visual Science
| last2 = Dai
| first2 = Y
| last3 = Wu
| first3 = X
| last4 = Wang
| first4 = Y
| last5 = Sun
| first5 = S
| last6 = Xiao
| first6 = J
| last7 = Zhang
| first7 = Q
| last8 = Guan
| first8 = L
| last9 = Zhao
| first9 = X
| last10 = Hao
| first10 = X
| last11 = Wu
| first11 = R
| last12 = Xie
| first12 = L
| doi = 10.1167/iovs.14-14098
| volume=55
| pages=8031–43
}}</ref>
It is associated with [[Surfactant metabolism dysfunction]] type 3.


==See also==
==See also==
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==References==
==References==
{{reflist|2}}
{{reflist}}


==Further reading==
==Further reading==
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{{PBB_Further_reading  
{{PBB_Further_reading  
| citations =  
| citations =  
*{{cite journal  | author=Klugbauer N, Hofmann F |title=Primary structure of a novel ABC transporter with a chromosomal localization on the band encoding the multidrug resistance-associated protein. |journal=FEBS Lett. |volume=391 |issue= 1-2 |pages= 61-5 |year= 1996 |pmid= 8706931 |doi=  }}
*{{cite journal  |vauthors=Connors TD, Van Raay TJ, Petry LR |title=The cloning of a human ABC gene (ABC3) mapping to chromosome 16p13.3 |journal=Genomics |volume=39 |issue= 2 |pages= 231–4 |year= 1997 |pmid= 9027511 |doi= 10.1006/geno.1996.4500 |display-authors=etal}}
*{{cite journal  | author=Connors TD, Van Raay TJ, Petry LR, ''et al.'' |title=The cloning of a human ABC gene (ABC3) mapping to chromosome 16p13.3. |journal=Genomics |volume=39 |issue= 2 |pages= 231-4 |year= 1997 |pmid= 9027511 |doi= 10.1006/geno.1996.4500 }}
*{{cite journal  |vauthors=Yamano G, Funahashi H, Kawanami O |title=ABCA3 is a lamellar body membrane protein in human lung alveolar type II cells |journal=FEBS Lett. |volume=508 |issue= 2 |pages= 221–5 |year= 2001 |pmid= 11718719 |doi=10.1016/S0014-5793(01)03056-3 |display-authors=etal}}
*{{cite journal  | author=Yamano G, Funahashi H, Kawanami O, ''et al.'' |title=ABCA3 is a lamellar body membrane protein in human lung alveolar type II cells. |journal=FEBS Lett. |volume=508 |issue= 2 |pages= 221-5 |year= 2001 |pmid= 11718719 |doi=  }}
*{{cite journal  |vauthors=Mulugeta S, Gray JM, Notarfrancesco KL |title=Identification of LBM180, a lamellar body limiting membrane protein of alveolar type II cells, as the ABC transporter protein ABCA3 |journal=J. Biol. Chem. |volume=277 |issue= 25 |pages= 22147–55 |year= 2002 |pmid= 11940594 |doi= 10.1074/jbc.M201812200 |display-authors=etal}}
*{{cite journal  | author=Mulugeta S, Gray JM, Notarfrancesco KL, ''et al.'' |title=Identification of LBM180, a lamellar body limiting membrane protein of alveolar type II cells, as the ABC transporter protein ABCA3. |journal=J. Biol. Chem. |volume=277 |issue= 25 |pages= 22147-55 |year= 2002 |pmid= 11940594 |doi= 10.1074/jbc.M201812200 }}
*{{cite journal  |vauthors=Strausberg RL, Feingold EA, Grouse LH |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 | pmc=139241 |display-authors=etal}}
*{{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=Shulenin S, Nogee LM, Annilo T |title=ABCA3 gene mutations in newborns with fatal surfactant deficiency |journal=N. Engl. J. Med. |volume=350 |issue= 13 |pages= 1296–303 |year= 2004 |pmid= 15044640 |doi= 10.1056/NEJMoa032178 |display-authors=etal}}
*{{cite journal  | author=Shulenin S, Nogee LM, Annilo T, ''et al.'' |title=ABCA3 gene mutations in newborns with fatal surfactant deficiency. |journal=N. Engl. J. Med. |volume=350 |issue= 13 |pages= 1296-303 |year= 2004 |pmid= 15044640 |doi= 10.1056/NEJMoa032178 }}
*{{cite journal  |vauthors=Nagata K, Yamamoto A, Ban N |title=Human ABCA3, a product of a responsible gene for abca3 for fatal surfactant deficiency in newborns, exhibits unique ATP hydrolysis activity and generates intracellular multilamellar vesicles |journal=Biochem. Biophys. Res. Commun. |volume=324 |issue= 1 |pages= 262–8 |year= 2004 |pmid= 15465012 |doi= 10.1016/j.bbrc.2004.09.043 |display-authors=etal}}
*{{cite journal  | author=Nagata K, Yamamoto A, Ban N, ''et al.'' |title=Human ABCA3, a product of a responsible gene for abca3 for fatal surfactant deficiency in newborns, exhibits unique ATP hydrolysis activity and generates intracellular multilamellar vesicles. |journal=Biochem. Biophys. Res. Commun. |volume=324 |issue= 1 |pages= 262-8 |year= 2004 |pmid= 15465012 |doi= 10.1016/j.bbrc.2004.09.043 }}
*{{cite journal  |vauthors=Wulf GG, Modlich S, Inagaki N |title=ABC transporter ABCA3 is expressed in acute myeloid leukemia blast cells and participates in vesicular transport |journal=Haematologica |volume=89 |issue= 11 |pages= 1395–7 |year= 2006 |pmid= 15531465 |doi=  |display-authors=etal}}
*{{cite journal  | author=Wulf GG, Modlich S, Inagaki N, ''et al.'' |title=ABC transporter ABCA3 is expressed in acute myeloid leukemia blast cells and participates in vesicular transport. |journal=Haematologica |volume=89 |issue= 11 |pages= 1395-7 |year= 2006 |pmid= 15531465 |doi=  }}
*{{cite journal  |vauthors=Kimura K, Wakamatsu A, Suzuki Y |title=Diversification of transcriptional modulation: Large-scale identification and characterization of putative alternative promoters of human genes |journal=Genome Res. |volume=16 |issue= 1 |pages= 55–65 |year= 2006 |pmid= 16344560 |doi= 10.1101/gr.4039406 | pmc=1356129 |display-authors=etal}}
*{{cite journal  | author=Kimura K, Wakamatsu A, Suzuki Y, ''et al.'' |title=Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. |journal=Genome Res. |volume=16 |issue= 1 |pages= 55-65 |year= 2006 |pmid= 16344560 |doi= 10.1101/gr.4039406 }}
*{{cite journal  |vauthors=Cheong N, Madesh M, Gonzales LW |title=Functional and trafficking defects in ATP binding cassette A3 mutants associated with respiratory distress syndrome |journal=J. Biol. Chem. |volume=281 |issue= 14 |pages= 9791–800 |year= 2006 |pmid= 16415354 |doi= 10.1074/jbc.M507515200 |display-authors=etal}}
*{{cite journal  | author=Cheong N, Madesh M, Gonzales LW, ''et al.'' |title=Functional and trafficking defects in ATP binding cassette A3 mutants associated with respiratory distress syndrome. |journal=J. Biol. Chem. |volume=281 |issue= 14 |pages= 9791-800 |year= 2006 |pmid= 16415354 |doi= 10.1074/jbc.M507515200 }}
*{{cite journal  |vauthors=Steinbach D, Gillet JP, Sauerbrey A |title=ABCA3 as a possible cause of drug resistance in childhood acute myeloid leukemia |journal=Clin. Cancer Res. |volume=12 |issue= 14 Pt 1 |pages= 4357–63 |year= 2007 |pmid= 16857811 |doi= 10.1158/1078-0432.CCR-05-2587 |display-authors=etal}}
*{{cite journal  | author=Steinbach D, Gillet JP, Sauerbrey A, ''et al.'' |title=ABCA3 as a possible cause of drug resistance in childhood acute myeloid leukemia. |journal=Clin. Cancer Res. |volume=12 |issue= 14 Pt 1 |pages= 4357-63 |year= 2007 |pmid= 16857811 |doi= 10.1158/1078-0432.CCR-05-2587 }}
*{{cite journal  |vauthors=Matsumura Y, Ban N, Ueda K, Inagaki N |title=Characterization and classification of ATP-binding cassette transporter ABCA3 mutants in fatal surfactant deficiency |journal=J. Biol. Chem. |volume=281 |issue= 45 |pages= 34503–14 |year= 2006 |pmid= 16959783 |doi= 10.1074/jbc.M600071200 }}
*{{cite journal  | author=Matsumura Y, Ban N, Ueda K, Inagaki N |title=Characterization and classification of ATP-binding cassette transporter ABCA3 mutants in fatal surfactant deficiency. |journal=J. Biol. Chem. |volume=281 |issue= 45 |pages= 34503-14 |year= 2006 |pmid= 16959783 |doi= 10.1074/jbc.M600071200 }}
*{{cite journal  |vauthors=Piehler AP, Wenzel JJ, Olstad OK |title=The human ortholog of the rodent testis-specific ABC transporter Abca17 is a ubiquitously expressed pseudogene (ABCA17P) and shares a common 5' end with ABCA3 |journal=BMC Mol. Biol. |volume=7|pages= 28 |year= 2006 |pmid= 16968533 |doi= 10.1186/1471-2199-7-28 | pmc=1579226 |display-authors=etal}}
*{{cite journal  | author=Piehler AP, Wenzel JJ, Olstad OK, ''et al.'' |title=The human ortholog of the rodent testis-specific ABC transporter Abca17 is a ubiquitously expressed pseudogene (ABCA17P) and shares a common 5' end with ABCA3. |journal=BMC Mol. Biol. |volume=7 |issue=  |pages= 28 |year= 2006 |pmid= 16968533 |doi= 10.1186/1471-2199-7-28 }}
*{{cite journal  |vauthors=Saugstad OD, Hansen TW, Rønnestad A |title=Novel mutations in the gene encoding ATP binding cassette protein member A3 (ABCA3) resulting in fatal neonatal lung disease |journal=Acta Paediatr. |volume=96 |issue= 2 |pages= 185–90 |year= 2007 |pmid= 17429902 |doi=10.1111/j.1651-2227.2007.00016.x |display-authors=etal}}
*{{cite journal  | author=Saugstad OD, Hansen TW, Rønnestad A, ''et al.'' |title=Novel mutations in the gene encoding ATP binding cassette protein member A3 (ABCA3) resulting in fatal neonatal lung disease. |journal=Acta Paediatr. |volume=96 |issue= 2 |pages= 185-90 |year= 2007 |pmid= 17429902 |doi=  }}
*{{cite journal  |vauthors=Matsumura Y, Sakai H, Sasaki M |title=ABCA3-mediated choline-phospholipids uptake into intracellular vesicles in A549 cells |journal=FEBS Lett. |volume=581 |issue= 17 |pages= 3139–44 |year= 2007 |pmid= 17574245 |doi= 10.1016/j.febslet.2007.05.078 |display-authors=etal}}
*{{cite journal  | author=Matsumura Y, Sakai H, Sasaki M, ''et al.'' |title=ABCA3-mediated choline-phospholipids uptake into intracellular vesicles in A549 cells. |journal=FEBS Lett. |volume=581 |issue= 17 |pages= 3139-44 |year= 2007 |pmid= 17574245 |doi= 10.1016/j.febslet.2007.05.078 }}
*{{cite journal  |vauthors=Bullard JE, Nogee LM |title=Heterozygosity for ABCA3 mutations modifies the severity of lung disease associated with a surfactant protein C gene (SFTPC) mutation |journal=Pediatr. Res. |volume=62 |issue= 2 |pages= 176–9 |year= 2007 |pmid= 17597647 |doi= 10.1203/PDR.0b013e3180a72588 }}
*{{cite journal  | author=Bullard JE, Nogee LM |title=Heterozygosity for ABCA3 mutations modifies the severity of lung disease associated with a surfactant protein C gene (SFTPC) mutation. |journal=Pediatr. Res. |volume=62 |issue= 2 |pages= 176-9 |year= 2007 |pmid= 17597647 |doi= 10.1203/PDR.0b013e3180a72588 }}
}}
}}
{{refend}}
{{refend}}
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== External links ==
== External links ==
* {{MeshName|ABCA3+protein,+human}}
* {{MeshName|ABCA3+protein,+human}}
* {{UCSC genome browser|ABCA3}}
* {{UCSC gene details|ABCA3}}


{{membrane-protein-stub}}
{{NLM content}}
{{NLM content}}
{{Membrane transport proteins}}
{{ABC transporters}}
 
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{{DEFAULTSORT:Abca3}}
[[Category:ABC transporters]]
[[Category:ABC transporters]]
{{WikiDoc Sources}}
 
 
{{membrane-protein-stub}}

Latest revision as of 17:38, 29 August 2017

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Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez

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Ensembl

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UniProt

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RefSeq (mRNA)

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RefSeq (protein)

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

ATP-binding cassette sub-family A member 3 is a protein that in humans is encoded by the ABCA3 gene.[1][2]

The membrane-associated 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 intracellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. The full transporter encoded by this gene may be involved in development of resistance to xenobiotics and engulfment during programmed cell death.[2]

Clinical significance

Mutations in ABCA3 are associated to cataract-microcornea syndrome .[3]

It is associated with Surfactant metabolism dysfunction type 3.

See also

References

  1. ↑ Klugbauer N, Hofmann F (Sep 1996). "Primary structure of a novel ABC transporter with a chromosomal localization on the band encoding the multidrug resistance-associated protein". FEBS Lett. 391 (1–2): 61–5. doi:10.1016/0014-5793(96)00700-4. PMID 8706931.
  2. ↑ 2.0 2.1 "Entrez Gene: ABCA3 ATP-binding cassette, sub-family A (ABC1), member 3".
  3. ↑ Chen, P; Dai, Y; Wu, X; Wang, Y; Sun, S; Xiao, J; Zhang, Q; Guan, L; Zhao, X; Hao, X; Wu, R; Xie, L (2014). "Mutations in the ABCA3 gene are associated with cataract-microcornea syndrome". Investigative Ophthalmology & Visual Science. 55: 8031–43. doi:10.1167/iovs.14-14098. PMID 25406294.

Further reading

External links

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


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