ABCA3 | GeneID:21 | Homo sapiens

Gene Summary

[ - ] NCBI Entrez Gene

Gene ID 21 Official Symbol ABCA3
Locus N/A Gene Type protein-coding
Synonyms ABC-C; ABC3; EST111653; LBM180; MGC166979; MGC72201; SMDP3
Full Name ATP-binding cassette, sub-family A (ABC1), member 3
Description ATP-binding cassette, sub-family A (ABC1), member 3
Chromosome 16p13.3
Also Known As ABC transporter 3; ATP-binding cassette, sub-family A member 3
Summary 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. [provided by RefSeq]

Orthologs and Paralogs

[ - ] Homologs - NCBI's HomoloGene Group: 37437

ID Symbol Protein Species
GeneID:21 ABCA3 NP_001080.2 Homo sapiens
GeneID:27410 Abca3 NP_001034670.1 Mus musculus
GeneID:33103 CG1718 NP_608445.1 Drosophila melanogaster
GeneID:178559 abt-4 NP_503175.1 Caenorhabditis elegans
GeneID:302973 Abca3 XP_220219.4 Rattus norvegicus
GeneID:416386 ABCA3 XP_414701.2 Gallus gallus
GeneID:453833 ABCA3 XP_510744.2 Pan troglodytes
GeneID:479879 ABCA3 XP_537004.2 Canis lupus familiaris
GeneID:505787 ABCA3 XP_582132.3 Bos taurus
GeneID:1269722 AgaP_AGAP007504 XP_308371.2 Anopheles gambiae
GeneID:1276992 AgaP_AGAP006379 XP_557048.1 Anopheles gambiae
GeneID:1280527 AgaP_AGAP012156 XP_552044.1 Anopheles gambiae

Antibodies

[ - ] Monoclonal and Polyclonal Antibodies

No. Provider Product No. Description
1 scbt ABCA3 ABCA3 Antibody / ABCA3 Antibodies;
2 sigma HPA007884 Anti-ABCA3 antibody produced in rabbit ;

Exon, Intron and UTRs

Exon, Intron and UTRs of ABCA3 Gene Transcript Isoforms

CpG near TSS

CpG dinucleotides near Transcription Start Site of ABCA3 Gene

Gene Classification

[ - ] Gene Ontology

IDCategoryGO Term
GO:0016021 Component integral to membrane
GO:0042599 Component lamellar body
GO:0005624 Component membrane fraction
GO:0005886 Component plasma membrane
GO:0016887 Function ATPase activity
GO:0042626 Function ATPase activity, coupled to transmembrane movement of substances
GO:0005524 Function ATP binding
GO:0000166 Function nucleotide binding
GO:0005215 Function transporter activity
GO:0042493 Process response to drug
GO:0006810 Process transport

RefSeq Isoforms

[ - ] RefSeq Annotation and UniProt Database

No. RefSeq RNA RefSeq Protein UniProt Equivalent
1 NM_001089  UCSC Browser NP_001080 Q99758   B2RU09  

Transcript Sequences

[ - ] Transcript Accession Number Cloud [ GenBank ]

Protein Sequences

[ - ] Protein Accession Number Cloud [ GenPept ]

Mutations and SNPs

[ - ] NCBI's dbSNP

Phenotypes

[ - ] Genes and Diseases - MIM at NCBI

Chemicals and Drugs

[ - ] Comparative Toxicogenomics Database from MDI Biological Lab

Curated [chemical–gene interactions|chemical–disease|gene–disease] data were retrieved from the Comparative Toxicogenomics Database (CTD), Mount Desert Island Biological Laboratory, Salisbury Cove, Maine. World Wide Web (URL: http://ctd.mdibl.org/). [Jan. 2009].
Chemical and Interaction
Acetaminophen
  • Acetaminophen affects the expression of ABCA3 mRNA
17562736
Carbon Tetrachloride
  • Carbon Tetrachloride results in decreased expression of ABCA3 mRNA
17484886
Estradiol
  • Estradiol affects the expression of ABCA3 mRNA
14699072
Indomethacin
  • Indomethacin results in decreased expression of ABCA3 mRNA
18360721
perfluorooctanoic acid
  • perfluorooctanoic acid results in decreased expression of ABCA3 mRNA
17681415

Gene and Diseases

[ - ] Gene and Diseases [Data source: CTD]

Curated [chemical–gene interactions|chemical–disease|gene–disease] data were retrieved from the Comparative Toxicogenomics Database (CTD), Mount Desert Island Biological Laboratory, Salisbury Cove, Maine. World Wide Web (URL: http://ctd.mdibl.org/). [Jan. 2009].
Disease Name Relationship PubMed
SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3 marker
Edema inferred via perfluorooctanoic acid 17259670, 12083418
Hepatomegaly inferred via perfluorooctanoic acid 3609246
Hyperalgesia inferred via perfluorooctanoic acid 12083418
Inflammation inferred via perfluorooctanoic acid 12083418
Leydig Cell Tumor inferred via perfluorooctanoic acid 8812269
Liver Neoplasms inferred via perfluorooctanoic acid 14757943
Niemann-Pick Disease, Type C inferred via perfluorooctanoic acid 9802331
Prenatal Exposure Delayed Effects inferred via perfluorooctanoic acid 17132714
Adenoma inferred via Indomethacin 11497255
Alzheimer Disease inferred via Indomethacin 15579461
Breast Neoplasms inferred via Indomethacin 17401462
Carcinoma, Hepatocellular inferred via Indomethacin 16391822
Colonic Neoplasms inferred via Indomethacin 11260862, 15786552, 15963497
Colorectal Neoplasms inferred via Indomethacin 18059344, 17054584, 12606626
Duodenal Ulcer inferred via Indomethacin 17045617, 16699067, 17202747
Edema inferred via Indomethacin 8985016
Enteritis inferred via Indomethacin 16328016
Esophageal Neoplasms inferred via Indomethacin 11005569
Glioblastoma inferred via Indomethacin 12870263
Hyperlipidemias inferred via Indomethacin 17546600
Ileal Diseases inferred via Indomethacin 10574470
Intestinal Diseases inferred via Indomethacin 15610444, 17329856, 15831440, 10210152
Jejunal Diseases inferred via Indomethacin 10574470
Leukemia, Myelogenous, Chronic, BCR-ABL Positive inferred via Indomethacin 10785260
Leukemia, Myeloid, Acute inferred via Indomethacin 18360721
Lung Neoplasms inferred via Indomethacin 11497255
Pain inferred via Indomethacin 17440234
Stomach Diseases inferred via Indomethacin 17207306
Stomach Ulcer inferred via Indomethacin 16934674, 12077510, 17654042, 10878458, 12467913, 18299717, 15104355
Ulcer inferred via Indomethacin 10574470
Breast Neoplasms inferred via Estradiol 17289903, 12948864, 17018787, 17261762, 18497071, 14630087
Candidiasis, Vulvovaginal inferred via Estradiol 16111702
Carcinoma, Hepatocellular inferred via Estradiol 16924424
Herpes Genitalis inferred via Estradiol 15709030
Hot Flashes inferred via Estradiol 17088409
Insulin Resistance inferred via Estradiol 16393666, 16627594
Kidney Diseases inferred via Estradiol 15618244
Kidney Neoplasms inferred via Estradiol 15610895
Liver Cirrhosis, Experimental inferred via Estradiol 14716833, 14659978
Mammary Neoplasms, Experimental inferred via Estradiol 17203775, 11408345, 16891317, 11807958
Myocardial Reperfusion Injury inferred via Estradiol 16810080
Neovascularization, Pathologic inferred via Estradiol 17289903
Prostatic Neoplasms inferred via Estradiol 16740699
Carbon Tetrachloride Poisoning inferred via Carbon Tetrachloride 16192424, 16097048, 10355542, 16227642, 16124888, 15700767, 16011737, 15673190, 16050911
Fatty Liver inferred via Carbon Tetrachloride 16045604, 16239168, 15959796, 17595544, 12631006, 61145, 12795759
Hepatitis, Toxic inferred via Carbon Tetrachloride 17522070, 16177239, 11566570, 15998439, 15968718, 15027814, 16227642
Hyperbilirubinemia inferred via Carbon Tetrachloride 16899240
Liver Cirrhosis inferred via Carbon Tetrachloride 17174718, 16943688, 17334410, 16221502, 16239168
Liver Cirrhosis, Experimental inferred via Carbon Tetrachloride 16192424, 16116963, 16248980, 15925388, 17525996, 17557913, 18156304, 16638106, 18418968, 17721639, 18277467, 18205269, 14716496, 15730626, 12632514, 15052691, 12632512, 17766677, 17944888, 18395914, 18279442, 16027843, 15996030, 16033810, 17565644, 17869086, 17708605, 12667390, 14748882, 13678700, 15818738, 17631135, 16097048, 15673190, 12649538, 12445421, 12445418, 15959796, 12898905, 18317297, 17761835, 14620537, 18472332, 14716833, 16015684, 12741479, 14724832, 18472094, 15931870, 17698563, 15893842, 12958196, 17640975, 18376398, 12389079, 18187930, 18210741, 18412020, 17714472, 14512876, 12609069, 18166357, 17922224, 18420326, 15876570, 16136751, 17481882, 17900296, 15123356, 18339082, 18429990, 12546737, 18006644, 18481824, 15057751, 12586293, 18054572, 10355542, 16011737, 18251166, 17823541, 12666154, 18395095, 17976157, 17805973
Liver Diseases inferred via Carbon Tetrachloride 16246199, 15720792, 16964402, 17285989, 15830285
Liver Failure inferred via Carbon Tetrachloride 15123358
Liver Failure, Acute inferred via Carbon Tetrachloride 14706259, 16899240
Liver Neoplasms, Experimental inferred via Carbon Tetrachloride 15583823
Hepatitis, Toxic inferred via Acetaminophen 2444490, 17562736, 16177239, 15968718, 16227642, 14986274, 17522070, 16081117
Hyperalgesia inferred via Acetaminophen 16870215
Liver Failure, Acute inferred via Acetaminophen 16871587, 17185352
Pain inferred via Acetaminophen 16870215

Transcript Cluster

[ - ] NCBI's UniGene

Selected Publications

[ - ] Gene-related publications indexed at PubMed

  1. [ + ] Anandarajan M, et al. (2009) "ABCA3 Deficiency: an unusual cause of respiratory distress in the newborn." Ulster Med J. 78(1):51-52. PMID:19252731
  2. [ + ] Saito A, et al. (2009) "Association study between single-nucleotide polymorphisms in 199 drug-related genes and commonly measured quantitative traits of 752 healthy Japanese subjects." J Hum Genet. 54(6):317-323. PMID:19343046
  3. [ + ] Garmany TH, et al. (2008) "Population and disease-based prevalence of the common mutations associated with surfactant deficiency." Pediatr Res. 63(6):645-649. PMID:18317237
  4. [ + ] Chapuy B, et al. (2008) "Intracellular ABC transporter A3 confers multidrug resistance in leukemia cells by lysosomal drug sequestration." Leukemia. 22(8):1576-1586. PMID:18463677
  5. [ + ] Shanklin DR, et al. (2008) "Cerebropulmonary dysgenetic syndrome." Exp Mol Pathol. 85(2):112-116. PMID:18603241
  6. [ + ] Karjalainen MK, et al. (2008) "Haplotype analysis of ABCA3: association with respiratory distress in very premature infants." Ann Med. 40(1):56-65. PMID:18246475
  7. [ + ] Doan ML, et al. (2008) "Clinical, radiological and pathological features of ABCA3 mutations in children." Thorax. 63(4):366-373. PMID:18024538
  8. [ + ] Bullard JE, et al. (2007) "Heterozygosity for ABCA3 mutations modifies the severity of lung disease associated with a surfactant protein C gene (SFTPC) mutation." Pediatr Res. 62(2):176-179. PMID:17597647
  9. [ + ] Matsumura Y, et al. (2007) "ABCA3-mediated choline-phospholipids uptake into intracellular vesicles in A549 cells." FEBS Lett. 581(17):3139-3144. PMID:17574245
  10. [ + ] Bruder E, et al. (2007) "Ultrastructural and molecular analysis in fatal neonatal interstitial pneumonia caused by a novel ABCA3 mutation." Mod Pathol. 20(10):1009-1018. PMID:17660803
  11. [ + ] Saugstad OD, 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):185-190. PMID:17429902
  12. [ + ] Matsumura Y, et al. (2006) "Characterization and classification of ATP-binding cassette transporter ABCA3 mutants in fatal surfactant deficiency." J Biol Chem. 281(45):34503-34514. PMID:16959783
  13. [ + ] Kimura K, 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. PMID:16344560
  14. [ + ] Cheong N, et al. (2006) "Functional and trafficking defects in ATP binding cassette A3 mutants associated with respiratory distress syndrome." J Biol Chem. 281(14):9791-9800. PMID:16415354
  15. [ + ] Steinbach D, et al. (2006) "ABCA3 as a possible cause of drug resistance in childhood acute myeloid leukemia." Clin Cancer Res. 12(14 Pt 1):4357-4363. PMID:16857811
  16. [ + ] Piehler AP, 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. PMID:16968533
  17. [ + ] Bullard JE, et al. (2005) "ABCA3 mutations associated with pediatric interstitial lung disease." Am J Respir Crit Care Med. 172(8):1026-1031. PMID:15976379
  18. [ + ] Wulf GG, et al. (2004) "ABC transporter ABCA3 is expressed in acute myeloid leukemia blast cells and participates in vesicular transport." Haematologica. 89(11):1395-1397. PMID:15531465
  19. [ + ] Nagata K, 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):262-268. PMID:15465012
  20. [ + ] Shulenin S, et al. (2004) "ABCA3 gene mutations in newborns with fatal surfactant deficiency." N Engl J Med. 350(13):1296-1303. PMID:15044640
  21. [ + ] Mulugeta S, 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):22147-22155. PMID:11940594
  22. [ + ] Strausberg RL, et al. (2002) "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):16899-16903. PMID:12477932
  23. [ + ] Yamano G, et al. (2001) "ABCA3 is a lamellar body membrane protein in human lung alveolar type II cells." FEBS Lett. 508(2):221-225. PMID:11718719
  24. [ + ] Connors TD, et al. (1997) "The cloning of a human ABC gene (ABC3) mapping to chromosome 16p13.3." Genomics. 39(2):231-234. PMID:9027511
  25. [ + ] Klugbauer N, et al. (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):61-65. PMID:8706931