Gene Ontology annotation through association of InterPro records with GO terms
Gene Ontology annotation based on Enzyme Commission mapping
Manual transfer of experimentally-verified manual GO annotation data to orthologs by curator judgment of sequence similarity
Annotation inferences using phylogenetic trees
Gene Ontology annotation based on UniProtKB/Swiss-Prot Subcellular Location vocabulary mapping, accompanied by conservative changes to GO terms applied by UniProt
Automatic transfer of experimentally verified manual GO annotation data to orthologs using Ensembl Compara
Electronic Gene Ontology annotations created by ARBA machine learning models
Combined Automated Annotation using Multiple IEA Methods
ABCA3 is a lamellar body membrane protein in human lung alveolar type II cells.
Identification of LBM180, a lamellar body limiting membrane protein of alveolar type II cells, as the ABC transporter protein ABCA3.
Characterization and classification of ATP-binding cassette transporter ABCA3 mutants in fatal surfactant deficiency.
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Pathogenic variants can impair the ATPase cycle independently of trafficking.
"ATP hydrolysis activity was dramatically decreased in the N568D, G1221S, and L1580P mutants"
ABCA3-mediated choline-phospholipids uptake into intracellular vesicles in A549 cells.
The surfactant lipid transporter ABCA3 is N-terminally cleaved inside LAMP3-positive vesicles.
Comparison of tear protein levels in breast cancer patients and healthy controls using a de novo proteomic approach.
Quantitative maps of protein phosphorylation sites across 14 different rat organs and tissues.
Quantitative targeted absolute proteomic analysis of transporters, receptors and junction proteins for validation of human cerebral microvascular endothelial cell line hCMEC/D3 as a human blood-brain barrier model.
Disruption of N-linked glycosylation promotes proteasomal degradation of the human ATP-binding cassette transporter ABCA3.
ABCA3 protects alveolar epithelial cells against free cholesterol induced cell death.
Functional Validation of ABCA3 as a Miltefosine Transporter in Human Macrophages: IMPACT ON INTRACELLULAR SURVIVAL OF LEISHMANIA (VIANNIA) PANAMENSIS.
Tools to explore ABCA3 mutations causing interstitial lung disease.
Homooligomerization of ABCA3 and its functional significance.
Quantification of volume and lipid filling of intracellular vesicles carrying the ABCA3 transporter.
Metabolic labelling of choline phospholipids probes ABCA3 transport in lamellar bodies.
Primary structure of a novel ABC transporter with a chromosomal localization on the band encoding the multidrug resistance-associated protein.
ABC transporters in lipid homeostasis
Defective ABCA3 does not transport PC, PG from ER membrane to lamellar body
ABCA3 transports PC, PG from ER membrane to lamellar body
Defective ABCA3 does not transport PC, PG from ER membrane to lamellar body
ABCA3 gene mutations in newborns with fatal surfactant deficiency.
Expression of ABCA3, a causative gene for fatal surfactant deficiency, is up-regulated by glucocorticoids in lung alveolar type II cells.
Partial truncation of the NH2-terminus affects physical characteristics and membrane binding, aggregation, and fusion properties of annexin A7.
Functional and trafficking defects in ATP binding cassette A3 mutants associated with respiratory distress syndrome.
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Human ABCA3 expression can induce lipid-filled lamellar-body-like organelles.
"Expression of recombinant ABCA3 in non-lung human embryonic kidney 293 cells induced formation of lamellar body-like vesicles that contained lipids."
ABCA3 inactivation in mice causes respiratory failure, loss of pulmonary surfactant, and depletion of lung phosphatidylglycerol.
ABCA3 as a lipid transporter in pulmonary surfactant biogenesis.
ABCA3 is critical for lamellar body biogenesis in vivo.
Targeted inactivation of the murine Abca3 gene leads to respiratory failure in newborns with defective lamellar bodies.
Conditional deletion of Abca3 in alveolar type II cells alters surfactant homeostasis in newborn and adult mice.
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Conditional Abca3 deletion alters phospholipid homeostasis across lung compartments.
"Phospholipid content and composition were altered in lung tissue, lamellar bodies, and bronchoalveolar lavage fluid"
Analysis of the Proteolytic Processing of ABCA3: Identification of Cleavage Site and Involved Proteases.
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Cathepsin L, with a lesser cathepsin B contribution, cleaves ABCA3.
"Inhibition of cathepsin L and, to a lesser extent, cathepsin B resulted in attenuation of ABCA3 cleavage."
Cryo-EM structures of the human surfactant lipid transporter ABCA3.
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The structural study leaves the definitive substrate site and transport mechanism unresolved without direct lipid flux measurements.
"we could not tell which one or whether both are the real substrate binding sites without lipid transport assay."
Human pluripotent stem cell modeling of alveolar type 2 cell dysfunction caused by ABCA3 mutations.
Falcon literature research report for human ABCA3
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Independent literature synthesis supports a primary role in surfactant phospholipid loading, with unresolved purified substrate specificity.
"Its principal physiological function is to load surfactant phospholipids"
Molecular and cellular characteristics of ABCA3 mutations associated with diffuse parenchymal lung diseases in children.
Structural Features of the ATP-Binding Cassette (ABC) Transporter ABCA3.
ABCA3-related interstitial lung disease beyond infancy.
Descriptive and Functional Genomics in Neonatal Respiratory Distress Syndrome: From Lung Development to Targeted Therapies.
Quantifying Functional Impairment of ABCA3 Variants Associated with Interstitial Lung Disease.
ABCA3 Deficiency-Variant-Specific Response to Hydroxychloroquine.