ABCA3 Gene Summary [Human]
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, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | ABCA3 |
| Official Name | ATP binding cassette subfamily A member 3 [Source:HGNC Symbol;Acc:HGNC:33] |
| Ensembl ID | ENSG00000167972 |
| Bio databases IDs | |
| Aliases | ATP binding cassette subfamily A member 3 |
| Synonyms | ABC3, ABC-C, ATP binding cassette subfamily A member 3, EST111653, LBM180, SMDP3 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human ABCA3 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- ABC-2 family transporter protein
- phospholipid transporter
- nickel import ATP-binding protein NikD
- daunorubicin resistance ABC transporter ATP-binding subunit
- nitrate transport ATP-binding subunits C and D
- ATPase
- heme ABC exporter, ATP-binding protein CcmA
- lipid transporter
- phosphonate C-P lyase system protein PhnK
- LPS export ABC transporter ATP-binding protein
- phosphatidylcholine transporter
- gallidermin-class lantibiotic protection ABC transporter, ATP-binding subunit
- xenobiotic-transporting ATPase
- nickel import ATP-binding protein NikE
- ABC transporter
- P-loop containing Nucleoside Triphosphate Hydrolases
- transporter
- ATPases associated with a variety of cellular activities
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- surfactant metabolism dysfunction due to ABCA3 deficiency
- congenital pulmonary alveolar proteinosis
- carbamoyl-phosphate synthase I deficiency
- primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies
- chronic obstructive pulmonary disease
- Loeys-Dietz syndrome
- familial idiopathic pulmonary fibrosis
role in cell
- synthesis in
- migration
- proliferation
- invasion by
- expression in
- cell death
- survival
- accumulation in
- formation
- release
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- cytoplasmic vesicle membrane
- Plasma Membrane
- vesicles
- secretory granule membrane
- vesicle membrane
- alveolar epithelial lamellar bodies
- late endosomes
- cytoplasmic vesicles
- plasma
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human ABCA3 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- positive regulation of phospholipid transport
- protein metabolic process
- drug export
- organelle assembly
- response to xenobiotic stimulus
- surfactant homeostasis
- phospholipid homeostasis
- phosphatidylglycerol metabolic process
- regulation of lipid biosynthetic process
- lipid transport
- drug transmembrane transport
- phosphatidylcholine metabolic process
- response to glucocorticoid stimulus
- lipid translocation
- positive regulation of cholesterol efflux
- xenobiotic transport
- phospholipid transport
- positive regulation of protein homooligomerization
- lung development
Cellular Component
Where in the cell the gene product is active
- lamellar body membrane
- extracellular space
- cytoplasmic vesicle membrane
- alveolar lamellar body membrane
- intracellular membrane-bounded organelle
- late endosome
- alveolar lamellar body
- multivesicular body membrane
- lamellar body
- lysosomal membrane
- plasma membrane
Molecular Function
What the gene product does at the molecular level
- ATPase activity
- ATP binding
- ATPase activity, coupled to transmembrane movement of substances
- lipid transporter activity
- xenobiotic-transporting ATPase activity