| UniProt Protein Function: | ABCA3: Plays an important role in the formation of pulmonary surfactant, probably by transporting lipids such as cholesterol. Defects in ABCA3 are the cause of pulmonary surfactant metabolism dysfunction type 3 (SMDP3); also called pulmonary alveolar proteinosis due to ABCA3 deficiency. A rare lung disorder due to impaired surfactant homeostasis. It is characterized by alveolar filling with floccular material that stains positive using the periodic acid-Schiff method and is derived from surfactant phospholipids and protein components. Excessive lipoproteins accumulation in the alveoli results in severe respiratory distress. Belongs to the ABC transporter superfamily. ABCA family. |
| UniProt Protein Details: | Protein type:Transporter, ABC family; Transporter; Membrane protein, multi-pass; Membrane protein, integral Chromosomal Location of Human Ortholog: 16p13.3 Cellular Component: extracellular space; membrane; plasma membrane; integral to membrane Molecular Function:ATPase activity, coupled to transmembrane movement of substances; transporter activity; ATP binding Biological Process: response to drug; metabolic process; transport; transmembrane transport Disease: Surfactant Metabolism Dysfunction, Pulmonary, 3 |
| NCBI Summary: | 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] |
| UniProt Code: | Q99758 |
| NCBI GenInfo Identifier: | 85700402 |
| NCBI Gene ID: | 21 |
| NCBI Accession: | Q99758.2 |
| UniProt Secondary Accession: | Q99758,Q54A95, Q6P5P9, Q92473, B2RU09, |
| UniProt Related Accession: | Q99758 |
| Molecular Weight: | 1704 |
| NCBI Full Name: | ATP-binding cassette sub-family A member 3 |
| NCBI Synonym Full Names: | ATP-binding cassette, sub-family A (ABC1), member 3 |
| NCBI Official Symbol: | ABCA3 |
| NCBI Official Synonym Symbols: | ABC3; ABC-C; SMDP3; LBM180; EST111653 |
| NCBI Protein Information: | ATP-binding cassette sub-family A member 3; ABC transporter 3; ABC-C transporter; ATP-binding cassette transporter 3 |
| UniProt Protein Name: | ATP-binding cassette sub-family A member 3 |
| UniProt Synonym Protein Names: | ABC-C transporter; ATP-binding cassette transporter 3; ATP-binding cassette 3 |
| Protein Family: | ABC transporter A family |
| UniProt Gene Name: | ABCA3 |
| UniProt Entry Name: | ABCA3_HUMAN |
