ABCA3 Membrane Protein Introduction

Introduction of ABCA3

ABCA3 encoded by ABCA3 gene is a member of the superfamily of ATP-binding cassette (ABC) transporters which transport various molecules across extra- and intracellular membranes. There are seven subfamilies in ABC superfamily named as ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White, respectively. ABCA3 protein belongs to ABC1 subfamily and is high homology to ABCA1 and ABCA2. It is most expressed in the alveolar type II cells in the lung.

Basic Information of ABCA3
Protein Name	ATP-binding cassette sub-family A member 3
Gene Name	ABCA3
Aliases	ABC3, ABC-C, SMDP3, LBM180
Organism	Homo sapiens (Human)
UniProt ID	Q99758
Transmembrane Times	12
Length (aa)	1704
Sequence	MAVLRQLALLLWKNYTLQKRKVLVTVLELFLPLLFSGILIWLRLKIQSENVPNATIYPGQSIQELPLFFTFPPPGDTWELAYIPSHSDAAKTVTETVRRALVINMRVRGFPSEKDFEDYIRYDNCSSSVLAAVVFEHPFNHSKEPLPLAVKYHLRFSYTRRNYMWTQTGSFFLKETEGWHTTSLFPLFPNPGPREPTSPDGGEPGYIREGFLAVQHAVDRAIMEYHADAATRQLFQRLTVTIKRFPYPPFIADPFLVAIQYQLPLLLLLSFTYTALTIARAVVQEKERRLKEYMRMMGLSSWLHWSAWFLLFFLFLLIAASFMTLLFCVKVKPNVAVLSRSDPSLVLAFLLCFAISTISFSFMVSTFFSKANMAAAFGGFLYFFTYIPYFFVAPRYNWMTLSQKLCSCLLSNVAMAMGAQLIGKFEAKGMGIQWRDLLSPVNVDDDFCFGQVLGMLLLDSVLYGLVTWYMEAVFPGQFGVPQPWYFFIMPSYWCGKPRAVAGKEEEDSDPEKALRNEYFEAEPEDLVAGIKIKHLSKVFRVGNKDRAAVRDLNLNLYEGQITVLLGHNGAGKTTTLSMLTGLFPPTSGRAYISGYEISQDMVQIRKSLGLCPQHDILFDNLTVAEHLYFYAQLKGLSRQKCPEEVKQMLHIIGLEDKWNSRSRFLSGGMRRKLSIGIALIAGSKVLILDEPTSGMDAISRRAIWDLLQRQKSDRTIVLTTHFMDEADLLGDRIAIMAKGELQCCGSSLFLKQKYGAGYHMTLVKEPHCNPEDISQLVHHHVPNATLESSAGAELSFILPRESTHRFEGLFAKLEKKQKELGIASFGASITTMEEVFLRVGKLVDSSMDIQAIQLPALQYQHERRASDWAVDSNLCGAMDPSDGIGALIEEERTAVKLNTGLALHCQQFWAMFLKKAAYSWREWKMVAAQVLVPLTCVTLALLAINYSSELFDDPMLRLTLGEYGRTVVPFSVPGTSQLGQQLSEHLKDALQAEGQEPREVLGDLEEFLIFRASVEGGGFNERCLVAASFRDVGERTVVNALFNNQAYHSPATALAVVDNLLFKLLCGPHASIVVSNFPQPRSALQAAKDQFNEGRKGFDIALNLLFAMAFLASTFSILAVSERAVQAKHVQFVSGVHVASFWLSALLWDLISFLIPSLLLLVVFKAFDVRAFTRDGHMADTLLLLLLYGWAIIPLMYLMNFFFLGAATAYTRLTIFNILSGIATFLMVTIMRIPAVKLEELSKTLDHVFLVLPNHCLGMAVSSFYENYETRRYCTSSEVAAHYCKKYNIQYQENFYAWSAPGVGRFVASMAASGCAYLILLFLIETNLLQRLRGILCALRRRRTLTELYTRMPVLPEDQDVADERTRILAPSPDSLLHTPLIIKELSKVYEQRVPLLAVDRLSLAVQKGECFGLLGFNGAGKTTTFKMLTGEESLTSGDAFVGGHRISSDVGKVRQRIGYCPQFDALLDHMTGREMLVMYARLRGIPERHIGACVENTLRGLLLEPHANKLVRTYSGGNKRKLSTGIALIGEPAVIFLDEPSTGMDPVARRLLWDTVARARESGKAIIITSHSMEECEALCTRLAIMVQGQFKCLGSPQHLKSKFGSGYSLRAKVQSEGQQEALEEFKAFVDLTFPGSVLEDEHQGMVHYHLPGRDLSWAKVFGILEKAKEKYGVDDYSVSQISLEQVFLSFAHLQPPTAEEGR

Function of ABCA3 Membrane Protein

ABCA3 is an integral membrane protein that transport lipid across biological membrane depending on the energy from ATP hydrolysis. ABCA3 is mainly present in the membrane of the lamellar bodies and involved in lamellar body formation and surfactant metabolism that is needed for normal lung functions. ABCA3 can transport phospholipids into the lamellar bodies in which they interact with surfactant proteins to form surfactant. The surfactant is located in the lung tissue and regulates respiration. Surfactant metabolism dysfunction may lead to severe respiratory insufficiency. It has been reported that mutations in ABCA3 are found in the newborns with severe lung diseases who display clinical and radiographic features of surfactant deficiency. Moreover, infants with mutations of ABCA3 such as nonsense or frameshift mutations are likely to have respiratory distress at birth and require lung transplantation within the first year of life. And during lung transplantation, the whole-lung lavage fluid obtained from infants with ABCA3 deficiency includes a reduced surfactant phospholipids levels and a weakened ability to lower surface tension.

ABCA3 Membrane Protein Introduction Fig.1 Schematic representation of ABCA3 protein with domains indicated in blue (α-helices) and green (NBDs). (Paolini, 2015)

Application of ABCA3 Membrane Protein in Literature

Schindlbeck U., et al. ABCA3 missense mutations causing surfactant dysfunction disorders have distinct cellular phenotypes. Human Mutation. 2018, 39(6): 841-850. PubMed ID: 29505158

The study suggests that the missense mutations of ABCA3 can lead to pulmonary disease of variable severity with different cellular phenotypes.
Akil N., et al. Surfactant deficiency syndrome in an infant with a C-terminal frame shift in ABCA3: A case report. Journal of Parenteral & Enteral Nutrition. 2018, 53(5): E12-E14. PubMed ID: 29566461

The study reports the E292V (c.875A>T) mutation in trans with a novel C-terminal frame shift mutation (c.4938delC) in a term infant with ABCA3 surfactant deficiency syndrome.
Hayasaka I., et al. Genetic basis for childhood interstitial lung disease among Japanese infants and children. Pediatric Research. 2018, 83(2): 477-483. PubMed ID: 29569581

The authors analyze the genetic basis of 62 Japanese patients with childhood interstitial lung disease (chILD). Results show that causative genetic variants for chILD are identified in 11 patients. However, no patients have ABCA3 variants.
El B.P., et al. Unusual long survival despite severe lung disease of a child with biallelic loss of function mutations in ABCA-3. Respiratory Medicine Case Reports. 2018, 23: 173-175. PubMed ID: 29719811

The study reports the first case of a newborn baby girl with severe respiratory distress who carries the compound heterozygous frameshift mutation of the ABCA3 gene survives until the age of five years.
Rindler T.N., et al. Alveolar injury and regeneration following deletion of ABCA3. Jci Insight. 2017, 2(24). PubMed ID: 29263307

The study shows that lacking ABCA3 may lead to alveolar cell injury and respiratory failure. And the lung dysfunction related to ABCA3 is linked to surfactant deficiency, inflammation, and alveolar-capillary leak.

ABCA3 Preparation Options

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Reference

Paolini A, et al. (2015). Structural features of the ATP-Binding cassette (ABC) transporter ABCA3. International Journal of Molecular Sciences. 16(8),19631-44.

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