ABCA3 Gene - ATP Binding Cassette Subfamily A Member 3
Key regulator of pulmonary surfactant lipid transport and metabolism
Gene Information Card
| Symbol | ABCA3 |
|---|---|
| Full Name | ATP binding cassette subfamily A member 3 |
| Gene Type | protein-coding |
| Chromosomal Location | 16p13.3 |
| NCBI Gene ID | 21 ncbi.nlm.nih.gov/gene/21 |
| Ensembl ID | ENSG00000167972 |
| UniProt ID | Q99758 |
| OMIM ID | 601615 |
| HGNC ID | 33 |
| Aliases | ABC3, LBM180, EST111653 |
Description
ABCA3 encodes a member of the ATP-binding cassette (ABC) transporter superfamily, specifically subfamily A. The protein is predominantly expressed in lung alveolar type II cells and localizes to the limiting membrane of lamellar bodies, where it mediates the transport of phospholipids and cholesterol essential for pulmonary surfactant assembly and secretion. Mutations in ABCA3 cause surfactant metabolism dysfunction, leading to neonatal respiratory distress syndrome and interstitial lung disease.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Surfactant metabolism dysfunction, pulmonary, 3 (SMDP3) | Loss-of-function mutations impair phospholipid transport into lamellar bodies, disrupting surfactant composition and reducing surface tension reduction | OMIM #610921; ClinVar |
| Interstitial lung disease (ILD) in children and adults | Missense or nonsense variants lead to abnormal surfactant accumulation and chronic inflammation | NCBI Gene; ClinVar |
| Neonatal respiratory distress syndrome (RDS) | Biallelic null mutations cause severe surfactant deficiency at birth | OMIM #601615; PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lung | 89.2 | High |
| Thyroid | 4.1 | Low |
| Trachea | 3.8 | Low |
| Salivary gland | 2.5 | Low |
| Breast | 1.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| A549 (lung carcinoma) | 12.5 | Alveolar type II-like |
| HPAEpiC (pulmonary alveolar epithelial) | 45.3 | Primary cells |
| HEK 293 | 0.8 | Very low |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.875A>G (p.Glu292Gly) | Missense | Rare | Impaired ATPase activity and phospholipid transport |
| c.3618C>T (p.Arg1206Trp) | Missense | Common in ILD | Reduced protein stability and mislocalization |
| c.1756C>T (p.Arg586Trp) | Missense | Rare | Loss of function; associated with neonatal RDS |
| c.3979C>T (p.Arg1327Ter) | Nonsense | Rare | Premature truncation; complete loss of function |
Mutation functional classification
Loss of Function (LOF)
Most pathogenic ABCA3 mutations are loss-of-function, impairing lipid transport and surfactant secretion, leading to surfactant deficiency and lung disease.
Gain of Function (GOF)
No gain-of-function mutations have been reported for ABCA3.
Dominant Negative (DN)
Some missense variants (e.g., p.Glu292Gly) may exert dominant-negative effects by disrupting oligomerization or trafficking, though autosomal recessive inheritance is typical.
View complete mutation data：
Gene Ontology (GO)
| • ATP binding (GO:0005524) | • ATP hydrolysis activity (GO:0016887) |
| • lipid transport (GO:0006869) | • surfactant homeostasis (GO:0043129) |
| • integral component of membrane (GO:0016021) | • lamellar body membrane (GO:0005768) |
Pathways
• Pulmonary surfactant metabolism (Reactome: R-HSA-5683826)
• ABC transporter disorders (KEGG: hsa04976)
Protein Summary
ABCA3 is a 1704-amino acid transmembrane protein with two nucleotide-binding domains (NBDs) and two transmembrane domains (TMDs). It functions as an active phospholipid and cholesterol transporter at the lamellar body membrane in alveolar type II cells. Proper ABCA3 activity is critical for the formation of mature lamellar bodies and secretion of functional pulmonary surfactant. Mutations cause mislocalization, impaired ATPase activity, or reduced protein stability, leading to surfactant deficiency and lung pathology.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ABCA3 Knockout HEK293 Cell Line | EDJ-KQ3344 | Human | 21 | Details Get a Quote |
| ABCA3 Knockout A-549 Cell Line | EDJ-KQ24988 | Human | 21 | Details Get a Quote |
| ABCA3 Knockout HCT 116 Cell Line | EDJ-KQ24989 | Human | 21 | Details Get a Quote |
| ABCA3 Knockout HeLa Cell Line | EDJ-KQ24990 | Human | 21 | Details Get a Quote |
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