ABCA3

ABCA3
Identifiers
Aliases	ABCA3 , ATP-binding cassette, sub-family A (ABC1), member 3, ABC-C, ABC3, EST111653, LBM180, SMDP3, ATP binding cassette subfamily A member 3
External IDs	OMIM: 601615 MGI: 1351617 HomoloGene: 37437 GeneCards: ABCA3
Gene location (Human) Chr. Chromosome 16 (human) [1] Band 16p13.3 Start 2,275,881 bp [1] End 2,340,746 bp [1]
Gene location (Mouse) Chr. Chromosome 17 (mouse) [2] Band 17|17 A3.3 Start 24,570,924 bp [2] End 24,629,175 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in lower lobe of lung upper lobe of lung upper lobe of left lung frontal pole prefrontal cortex inferior olivary nucleus middle temporal gyrus Brodmann area 10 middle frontal gyrus Brodmann area 9 Top expressed in left lung lobe right lung right lung lobe kidney facial motor nucleus trigeminal ganglion olfactory epithelium prostate motor neuron fossa More reference expression data BioGPS More reference expression data
Gene ontology Molecular function ATPase-coupled transmembrane transporter activity nucleotide binding ATPase activity ATP binding transporter activity lipid transporter activity Cellular component lamellar body membrane integral component of membrane plasma membrane membrane alveolar lamellar body membrane alveolar lamellar body extracellular space intracellular membrane-bounded organelle Biological process lipid transport response to glucocorticoid transmembrane transport transport Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 21 27410 Ensembl ENSG00000167972 ENSMUSG00000024130 UniProt Q99758 Q8R420 RefSeq (mRNA) NM_001089 NM_001039581 NM_013855 RefSeq (protein) NP_001080 NP_001034670 NP_038883 Location (UCSC) Chr 16: 2.28 – 2.34 Mb Chr 17: 24.57 – 24.63 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

ATP-binding cassette sub-family A member 3 is a protein that in humans is encoded by the ABCA3 gene. ^{[5] [6]}

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. ^[6]

Clinical significance

Mutations in ABCA3 are associated to cataract-microcornea syndrome. ^[7]

It is associated with Surfactant metabolism dysfunction type 3.

See also

• ATP-binding cassette transporter

References

1. GRCh38: Ensembl release 89: ENSG00000167972 – Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000024130 – Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. 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. S2CID   23411202.
6. "Entrez Gene: ABCA3 ATP-binding cassette, sub-family A (ABC1), member 3".
7. 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 (12): 8031–43. doi: 10.1167/iovs.14-14098 . PMID   25406294.

Further reading

• 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. doi: 10.1016/S0014-5793(01)03056-3 . PMID   11718719. S2CID   24575651.
• 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. Bibcode:2002PNAS...9916899M. doi: 10.1073/pnas.242603899 . PMC   139241 . 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. PMC   1356129 . 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 . PMC   1579226 . 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. doi:10.1111/j.1651-2227.2007.00016.x. PMID   17429902. S2CID   22025230.
• 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. S2CID   19618400.
• 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.

External links

• ABCA3+protein,+human at the U.S. National Library of Medicine Medical Subject Headings (MeSH)
• ABCA3 human gene location in the UCSC Genome Browser .
• ABCA3 human gene details in the UCSC Genome Browser .

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