SFTPA1 Gene Summary [Human]
This gene encodes a lung surfactant protein that is a member of a subfamily of C-type lectins called collectins. The encoded protein binds specific carbohydrate moieties found on lipids and on the surface of microorganisms. This protein plays an essential role in surfactant homeostasis and in the defense against respiratory pathogens. Mutations in this gene are associated with idiopathic pulmonary fibrosis. Alternate splicing results in multiple transcript variants. [provided by RefSeq, May 2010]
Details
| Type | Protein Coding |
| Official Symbol | SFTPA1 |
| Official Name | surfactant protein A1 [Source:HGNC Symbol;Acc:HGNC:10798] |
| Ensembl ID | ENSG00000122852 |
| Bio databases IDs | |
| Aliases | surfactant protein A1, surfactant, pulmonary-associated protein A1A |
| Synonyms | COLEC4, ILD1, PSAP, PSP-A, SFTP1, SFTPA, SFTPA1B, SP-A, SP-A1, SP-A1 beta, SP-A1 delta, SP-A1 epsilon, SP-A1 gamma, SP-A1 β, SP-A1 γ, SP-A1 δ, SP-A1 ε, SURFACTANT A, surfactant protein A1 |
| Species | Human, Homo sapiens |
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 SFTPA1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- lipid transporter
- collagen-like domain
- collagen like tail domain
- C-type lectin (CTL)/C-type lectin-like (CTLD) domain
- carbohydrate recognition domain
- Lectin C-type domain
- Collagen triple helix repeat (20 copies)
- neck domain
- protein binding
- globular head domain
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- lung adenocarcinoma formation
- interstitial lung disease type 1
- lung adenocarcinoma
- small cell lung cancer
- acute lung injury
- pneumonitis
- minimal change nephrotic syndrome
role in cell
- binding in
- expression in
- cell death
- chemotaxis
- phosphorylation in
- binding
- migration
- growth
- production in
- frequency
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Plasma Membrane
- Cytoplasm
- cell surface
- Extracellular Space
- endoplasmic reticulum membrane
- alveolar epithelial lamellar bodies
- endocytotic vesicle
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human SFTPA1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- lipid transport
- respiratory gaseous exchange
- opsonization
Cellular Component
Where in the cell the gene product is active
- endoplasmic reticulum membrane
- extracellular space
- collagen
- multivesicular body
- clathrin-coated endocytic vesicle
- extracellular region
- lamellar body
Molecular Function
What the gene product does at the molecular level
- protein binding
- lipid transporter activity
- carbohydrate binding