| Gene Information | |
|---|---|
| Gene Name | ABCA3 |
| Organism | Homo sapiens (Human) |
| Gene Length | 1704 |
| Protein Names | Phospholipid-transporting ATPase ABCA3 (EC 7.6.2.1) (ABC-C transporter) (ATP-binding cassette sub-family A member 3) (ATP-binding cassette transporter 3) (ATP-binding cassette 3) (Xenobiotic-transporting ATPase ABCA3) (EC 7.6.2.2) [Cleaved into: 150 Kda mature form] |
| Target Name | NA |
| Target Type | NA |
| Gene Age | 1064 ( ENSG00000167972 ) |
| Evolutionary Stage | Eukaryota |
| AlphaFoldDB | Q99758 |
| Gene Card | ABCA3 |
| Uniprot ID | Q99758 |
| Pfam | PF00005 |
| In ASD | no |
| Allosteric Prediction | yes (0.120439326) |
| Ortholog in Animals | Alpaca_ ABCA3 ( ortholog_one2one ) Dog_ ABCA3 ( ortholog_one2one ) GuineaPig_ ABCA3 ( ortholog_one2one ) Macaque_ ABCA3 ( ortholog_one2one ) Mouse_ Abca3 ( ortholog_one2one ) Pig_ ABCA3 ( ortholog_one2one ) Rat_ Abca3 ( ortholog_one2one ) Rabbit_ ABCA3 ( ortholog_one2one ) |
| Ohnologs | NA |
| Paralogs | ABCA5, ABCA9, ABCA12, ABCA7, ABCA8, ABCA13, ABCA1, ABCA2, ABCA6, ABCA10, ABCA4 |
| Tissue | NA |
| Tissue Specificity | Expressed in brain, pancreas, skeletal muscle and heart (PubMed:8706931). Highly expressed in the lung in an AT2-cell-specific manner (PubMed:11718719, PubMed:8706931). Weakly expressed in placenta, kidney and liver (PubMed:8706931). Also expressed in medullary thyroid carcinoma cells (MTC) and in C-cell carcinoma (PubMed:8706931). {ECO:0000269|PubMed:11718719, ECO:0000269|PubMed:8706931}. |
| Pharmacological Animal Models | NA |
| Gene Ontology (biological process) |
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| Gene Ontology (cellular component) |
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| Gene Ontology (molecular function) |
|
| PDB | 7W01 (EM 3.30A ) 7W02 (EM 3.30A ) |
| DBSNP | rs121909182 rs45447801 rs879159551 rs201299260 rs117603931 rs149989682 rs121909184 rs760006956 rs45592239 rs1402761450 rs891579143 rs762699052 rs763166660 rs121909183 rs28936691 |
| Subcellular location [CC] | Endosome, multivesicular body membrane {ECO:0000269|PubMed:16959783, ECO:0000269|PubMed:20863830, ECO:0000269|PubMed:27177387}; Multi-pass membrane protein {ECO:0000305}. Cytoplasmic vesicle membrane {ECO:0000269|PubMed:16959783, ECO:0000269|PubMed:17574245, ECO:0000269|PubMed:20863830, ECO:0000269|PubMed:22673903, ECO:0000269|PubMed:27177387, ECO:0000269|PubMed:31473345}. Late endosome membrane {ECO:0000269|PubMed:27177387}. Lysosome membrane {ECO:0000269|PubMed:16959783, ECO:0000269|PubMed:17574245, ECO:0000269|PubMed:20863830, ECO:0000269|PubMed:24142515}. Note=Localized in the limiting membrane of lamellar bodies in lung alveolar type II cells (PubMed:22673903, PubMed:16959783, PubMed:24142515, PubMed:27177387, PubMed:11718719). Trafficks via the Golgi, sorting vesicles (SVs) and late endosome/multivesicular body network directly to the outer membrane of lamellar bodies in AT2 lung epithelial cells or to lysosomes and lysosomal-related organelles (LROs) in other cells where undergoes proteolytic cleveage and oligosaccharide processing from high mannose type to complex type (PubMed:24142515, PubMed:20863830, PubMed:16959783, PubMed:27177387). Oligomers formation takes place in a post-endoplasmic reticulum compartment (PubMed:27352740). {ECO:0000269|PubMed:11718719, ECO:0000269|PubMed:16959783, ECO:0000269|PubMed:20863830, ECO:0000269|PubMed:22673903, ECO:0000269|PubMed:24142515, ECO:0000269|PubMed:27177387, ECO:0000269|PubMed:27352740}. |
| Mouse PG classification | HPG |
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