ABCA3

From Wikipedia, the free encyclopedia

ATP-binding cassette, sub-family A (ABC1), member 3

Identifiers

ABCA3; ABC-C; ABC3; EST111653; LBM180; MGC72201

External IDs

OMIM: 601615 MGI: 1351617 HomoloGene: 37437

Gene ontology
Molecular Function:	• nucleotide binding • transporter activity • ATP binding • ATPase activity • ATPase activity, coupled to transmembrane movement of substances
Cellular Component:	• membrane fraction • plasma membrane • integral to membrane • lamellar body
Biological Process:	• transport • response to drug

RNA expression pattern

More reference expression data

Orthologs

Human

Mouse

Refseq

NM_001089 (mRNA)
NP_001080 (protein)

NM_001039581 (mRNA)
NP_001034670 (protein)

Location

Chr 16: 2.27 - 2.33 Mb

Chr 17: 24.08 - 24.14 Mb

Pubmed search

[1]

[2]

ATP-binding cassette, sub-family A (ABC1), member 3, also known as ABCA3, is a human gene.^[1]

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.^[1]

1 See also
2 References
3 Further reading
4 External links

[edit] See also

ATP-binding cassette transporter

[edit] References

^ ^a ^b Entrez Gene: ABCA3 ATP-binding cassette, sub-family A (ABC1), member 3.

[edit] Further reading

Klugbauer N, Hofmann F (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. PMID 8706931.
Connors TD, Van Raay TJ, Petry LR, et al. (1997). "The cloning of a human ABC gene (ABC3) mapping to chromosome 16p13.3.". Genomics 39 (2): 231–4. doi:10.1006/geno.1996.4500. PMID 9027511.
Yamano G, Funahashi H, Kawanami O, et al. (2001). "ABCA3 is a lamellar body membrane protein in human lung alveolar type II cells.". FEBS Lett. 508 (2): 221–5. PMID 11718719.
Mulugeta S, Gray JM, Notarfrancesco KL, et al. (2002). "Identification of LBM180, a lamellar body limiting membrane protein of alveolar type II cells, as the ABC transporter protein ABCA3.". J. Biol. Chem. 277 (25): 22147–55. doi:10.1074/jbc.M201812200. PMID 11940594.
Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMID 12477932.
Shulenin S, Nogee LM, Annilo T, et al. (2004). "ABCA3 gene mutations in newborns with fatal surfactant deficiency.". N. Engl. J. Med. 350 (13): 1296–303. doi:10.1056/NEJMoa032178. PMID 15044640.
Nagata K, Yamamoto A, Ban N, et al. (2004). "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.". Biochem. Biophys. Res. Commun. 324 (1): 262–8. doi:10.1016/j.bbrc.2004.09.043. PMID 15465012.
Wulf GG, Modlich S, Inagaki N, et al. (2006). "ABC transporter ABCA3 is expressed in acute myeloid leukemia blast cells and participates in vesicular transport.". Haematologica 89 (11): 1395–7. PMID 15531465.
Kimura K, Wakamatsu A, Suzuki Y, et al. (2006). "Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.". Genome Res. 16 (1): 55–65. doi:10.1101/gr.4039406. PMID 16344560.
Cheong N, Madesh M, Gonzales LW, et al. (2006). "Functional and trafficking defects in ATP binding cassette A3 mutants associated with respiratory distress syndrome.". J. Biol. Chem. 281 (14): 9791–800. doi:10.1074/jbc.M507515200. PMID 16415354.
Steinbach D, Gillet JP, Sauerbrey A, et al. (2007). "ABCA3 as a possible cause of drug resistance in childhood acute myeloid leukemia.". Clin. Cancer Res. 12 (14 Pt 1): 4357–63. doi:10.1158/1078-0432.CCR-05-2587. PMID 16857811.
Matsumura Y, Ban N, Ueda K, Inagaki N (2006). "Characterization and classification of ATP-binding cassette transporter ABCA3 mutants in fatal surfactant deficiency.". J. Biol. Chem. 281 (45): 34503–14. doi:10.1074/jbc.M600071200. PMID 16959783.
Piehler AP, Wenzel JJ, Olstad OK, et al. (2006). "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.". BMC Mol. Biol. 7: 28. doi:10.1186/1471-2199-7-28. PMID 16968533.
Saugstad OD, Hansen TW, Rønnestad A, et al. (2007). "Novel mutations in the gene encoding ATP binding cassette protein member A3 (ABCA3) resulting in fatal neonatal lung disease.". Acta Paediatr. 96 (2): 185–90. PMID 17429902.
Matsumura Y, Sakai H, Sasaki M, et al. (2007). "ABCA3-mediated choline-phospholipids uptake into intracellular vesicles in A549 cells.". FEBS Lett. 581 (17): 3139–44. doi:10.1016/j.febslet.2007.05.078. PMID 17574245.
Bullard JE, Nogee LM (2007). "Heterozygosity for ABCA3 mutations modifies the severity of lung disease associated with a surfactant protein C gene (SFTPC) mutation.". Pediatr. Res. 62 (2): 176–9. doi:10.1203/PDR.0b013e3180a72588. PMID 17597647.

[edit] External links

MeSH ABCA3+protein,+human

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v • d • e Membrane proteins, carrier proteins: membrane transport proteins

ABC-transporter	A1, A2, A3, A4, A7, A8, A12, B1 B2-3, B2, B3, B4, B5, B6, B7, B9, B11 C1, C2, C3, C4, C5, C6, C8, C8-9, C10, C13, C11 D1, D2, D3, D4, E1, F1, F2 G1, G2, G4, Sterolin (G5, G8)

Solute carrier	1A1-7, 1A1, 1A2, 1A3, 1A4, 1A5, 2A1, 2A2, 2A3, 2A4, 2A5, 2A6, 2A8, 2A9, 2A10, 2A12, 3A1, 3A2, 4A1, 4A2, 4A3, 4A4, 4A5, 4A7, 4A8, 4A11, 5A1-2, 5A1, 5A3, 5A5, 5A8, 6A1, 6A2, 6A3, 6A4, 6A5, 6A8, 6A9, 6A19, 7A1, 7A2, 7A3, 7A4, 7A5, 7A7, 7A8, 7A9, 7A11, 8A1-3, 9A1, 9A2, 9A3, 9A3R1, 9A3R2, 9A5, 9A6, 9A8, 10A1, 10A2, 10A3, 10A7, 11A1, 11A2, 11A3, 12A1-2, 12A3, 12A4, 12A5, 12A6, 12A7, 14A1, 13A3, 14A2, 15A1, 15A2, 16A1, 16A2, 16A3, 16A4, 17A1, 17A5, 17A6-8, 17A7, 18A1, 18A2, 18A3, 19A1, 19A2, 19A3, 20A1, 20A2, 22A1, 22A2, 22A3, 22A4, 22A5, 22A6, 22A7, 22A9, 22A11, 22A12, 22A18, 23A1, 23A2, 24A1-2, 24A5, 25A1, 25A3, 25A4, 25A4-6, 25A8, 25A10, 25A11, 25A12, 25A13, 25A14, 25A15, 25A17, 25A19, 25A20, 25A27, 25A31, 25A37, 25A39, 26A2, 26A3, 26A4, 26A5, 26A6, 26A7, 26A8, 27A1, 27A2, 27A3, 27A4, 28A1, 28A2, 29A1, 29A2, 29A4, 30A4, 30A7, 30A8, 31A1, 31A2, 32A1, 34A1, 34A2, 34A3, 35A1, 35A2, 35B2, 35B4, 35C1, 36A1, 37A4, 38A2, 38A3, 39A1, 39A2, 39A3, 39A4, 39A6, 39A7, 40A1, 43A1 44A1, 44A2, 44A4, 45A2, O1A2, O1B1, O1B3, O2B1, O431, O4A1

Monosaccharide	GLUT1, GLUT2, GLUT3, GLUT4, GLUT5, GLUT6, GLUT8, GLUT9

Other	Amino acid (CD98) - Fatty acid (CD36) - Ion channels - Ion pumps - Mitochondrial membrane transport protein - Neurotransmitter transport proteins - Nuclear (Importin, Karyopherin)