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; GeneCards: ABCA3
Enzyme activity
Gene location (Human)
Chr.	Chromosome 16 (human)
End	2,340,746 bp
Gene location (Mouse)
Chr.	Chromosome 17 (mouse)
End	24,629,175 bp
RNA expression pattern
	Top expressed in
	lower lobe of lung; ; upper lobe of lung; ; upper lobe of left lung; ; right hemisphere of cerebellum; ; frontal pole; ; paraflocculus of cerebellum; ; tendon of biceps brachii; ; prefrontal cortex; ; right frontal lobe; ; inferior olivary nucleus;
	Top expressed in
	left lung lobe; ; right lung; ; right lung lobe; ; human kidney; ; vestibular membrane of cochlear duct; ; transitional epithelium of urinary bladder; ; right kidney; ; Rostral migratory stream; ; facial motor nucleus; ; trigeminal ganglion;
	More reference expression data
	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
Databases	NCBI: entry; OMA: entry
	21
	27410
	ENSG00000167972
	ENSMUSG00000024130
	Q99758
	Q8R420
	NM_001089
	NM_001039581; NM_013855
	NP_001080
	NP_001034670; NP_038883
	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.

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.

Clinical significance

Mutations in ABCA3 are associated to cataract-microcornea syndrome.

It is associated with Surfactant metabolism dysfunction type 3.

References

1 2 3 GRCh38: Ensembl release 89: ENSG00000167972 – Ensembl, May 2017
1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000024130 – 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.
↑ Klugbauer N, Hofmann F (September 1996). "Primary structure of a novel ABC transporter with a chromosomal localization on the band encoding the multidrug resistance-associated protein". FEBS Letters. 391 (1–2): 61–65. doi:10.1016/0014-5793(96)00700-4. PMID 8706931. S2CID 23411202.
1 2 "Entrez Gene: ABCA3 ATP-binding cassette, sub-family A (ABC1), member 3".
↑ Chen P, Dai Y, Wu X, Wang Y, Sun S, Xiao J, et al. (November 2014). "Mutations in the ABCA3 gene are associated with cataract-microcornea syndrome". Investigative Ophthalmology & Visual Science. 55 (12): 8031–8043. doi:10.1167/iovs.14-14098. PMID 25406294.

Connors TD, Van Raay TJ, Petry LR, Klinger KW, Landes GM, Burn TC (January 1997). "The cloning of a human ABC gene (ABC3) mapping to chromosome 16p13.3". Genomics. 39 (2): 231–234. doi:10.1006/geno.1996.4500. PMID 9027511.
Yamano G, Funahashi H, Kawanami O, Zhao LX, Ban N, Uchida Y, et al. (November 2001). "ABCA3 is a lamellar body membrane protein in human lung alveolar type II cells". FEBS Letters. 508 (2): 221–225. doi:10.1016/S0014-5793(01)03056-3. PMID 11718719. S2CID 24575651.
Mulugeta S, Gray JM, Notarfrancesco KL, Gonzales LW, Koval M, Feinstein SI, et al. (June 2002). "Identification of LBM180, a lamellar body limiting membrane protein of alveolar type II cells, as the ABC transporter protein ABCA3". The Journal of Biological Chemistry. 277 (25): 22147–22155. doi:10.1074/jbc.M201812200. PMID 11940594.
Shulenin S, Nogee LM, Annilo T, Wert SE, Whitsett JA, Dean M (March 2004). "ABCA3 gene mutations in newborns with fatal surfactant deficiency". The New England Journal of Medicine. 350 (13): 1296–1303. doi:10.1056/NEJMoa032178. PMID 15044640.
Nagata K, Yamamoto A, Ban N, Tanaka AR, Matsuo M, Kioka N, et al. (November 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". Biochemical and Biophysical Research Communications. 324 (1): 262–268. doi:10.1016/j.bbrc.2004.09.043. PMID 15465012.
Wulf GG, Modlich S, Inagaki N, Reinhardt D, Schroers R, Griesinger F, et al. (November 2004). "ABC transporter ABCA3 is expressed in acute myeloid leukemia blast cells and participates in vesicular transport". Haematologica. 89 (11): 1395–1397. PMID 15531465.
Kimura K, Wakamatsu A, Suzuki Y, Ota T, Nishikawa T, Yamashita R, et al. (January 2006). "Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes". Genome Research. 16 (1): 55–65. doi:10.1101/gr.4039406. PMC 1356129. PMID 16344560.
Cheong N, Madesh M, Gonzales LW, Zhao M, Yu K, Ballard PL, et al. (April 2006). "Functional and trafficking defects in ATP binding cassette A3 mutants associated with respiratory distress syndrome". The Journal of Biological Chemistry. 281 (14): 9791–9800. doi:10.1074/jbc.M507515200. PMID 16415354.
Steinbach D, Gillet JP, Sauerbrey A, Gruhn B, Dawczynski K, Bertholet V, et al. (July 2006). "ABCA3 as a possible cause of drug resistance in childhood acute myeloid leukemia". Clinical Cancer Research. 12 (14 Pt 1): 4357–4363. 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". The Journal of Biological Chemistry. 281 (45): 34503–34514. doi:10.1074/jbc.M600071200. PMID 16959783.
Piehler AP, Wenzel JJ, Olstad OK, Haug KB, Kierulf P, Kaminski WE (September 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 Molecular Biology. 7: 28. doi:10.1186/1471-2199-7-28. PMC 1579226. PMID 16968533.
Saugstad OD, Hansen TW, Rønnestad A, Nakstad B, Tølløfsrud PA, Reinholt F, et al. (February 2007). "Novel mutations in the gene encoding ATP binding cassette protein member A3 (ABCA3) resulting in fatal neonatal lung disease". Acta Paediatrica. 96 (2): 185–190. doi:10.1111/j.1651-2227.2007.00016.x. PMID 17429902. S2CID 22025230.
Matsumura Y, Sakai H, Sasaki M, Ban N, Inagaki N (July 2007). "ABCA3-mediated choline-phospholipids uptake into intracellular vesicles in A549 cells". FEBS Letters. 581 (17): 3139–3144. 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". Pediatric Research. 62 (2): 176–179. 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.

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[refGRCh38Ensembl-1] 1 2 3 GRCh38: Ensembl release 89: ENSG00000167972 – Ensembl, May 2017

[refGRCm38Ensembl-2] 1 2 3 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.

[pmid8706931-5] Klugbauer N, Hofmann F (September 1996). "Primary structure of a novel ABC transporter with a chromosomal localization on the band encoding the multidrug resistance-associated protein". FEBS Letters. 391 (1–2): 61–65. doi:10.1016/0014-5793(96)00700-4. PMID 8706931. S2CID 23411202.

[entrez-6] 1 2 "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, et al. (November 2014). "Mutations in the ABCA3 gene are associated with cataract-microcornea syndrome". Investigative Ophthalmology & Visual Science. 55 (12): 8031–8043. doi:10.1167/iovs.14-14098. PMID 25406294.

v t e Membrane proteins, carrier proteins: membrane transport proteins ABC transporter (TC 3A1)
A	A1 A2 A3 A4 A7 A8 A12 A13
B	B1 B2-3 (B2 B3) B4 B5 B6 B7 B9 B11
C	C1 C2 C3 C4 C5 C6 C7 C8-9 (C8, C9) C10 C11 C13
D	D1 D2 D3 D4
E	E1
F	F1 F2
G	G1 G2 G4 Sterolin (G5, G8)
see also ABC transporter disorders

ABCA3

Clinical significance

See also

References

Further reading

External links