SFTPA1: Surfactant Protein A1
Key regulator of pulmonary surfactant function and innate immunity
Gene Information Card
| Symbol | SFTPA1 |
|---|---|
| Full Name | Surfactant Protein A1 |
| Gene Type | protein-coding |
| Chromosomal Location | 10q22.3 |
| NCBI Gene ID | 6436 ncbi.nlm.nih.gov/gene/6436 |
| Ensembl ID | ENSG00000122852 |
| UniProt ID | P07714 |
| OMIM ID | 178630 |
| HGNC ID | 10801 |
| Aliases | SP-A1, SP-A, COLEC4 |
Description
SFTPA1 encodes surfactant protein A1 (SP-A1), a member of the collectin family essential for pulmonary surfactant function and innate immune defense. SP-A1 binds pathogens and modulates alveolar macrophage activity, contributing to lung homeostasis and host defense.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Pulmonary Alveolar Proteinosis (PAP) | Deficiency of SP-A1 impairs surfactant clearance, leading to protein accumulation in alveoli. | ClinVar, OMIM |
| Idiopathic Pulmonary Fibrosis (IPF) | Altered SP-A1 levels disrupt surfactant function and promote fibrosis. | NCBI Gene, PubMed |
| Respiratory Distress Syndrome (RDS) in neonates | Low SP-A1 expression reduces surfactant activity, causing alveolar collapse. | OMIM, ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lung | 123.4 | High |
| Trachea | 45.6 | Medium |
| Spleen | 2.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| A549 (lung adenocarcinoma) | 89.2 | High expression |
| HPAEpiC (pulmonary epithelial) | 76.5 | Moderate expression |
| THP-1 (monocyte) | 5.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.50G>A (p.Arg17His) | Missense | <0.01% | Reduced surfactant binding |
| c.223C>T (p.Arg75Trp) | Missense | <0.01% | Impaired pathogen recognition |
| c.1A>G (p.Met1Val) | Start loss | Rare | Loss of protein expression |
Mutation functional classification
Loss of Function (LOF)
Mutations disrupting SP-A1 secretion or binding (e.g., start loss) lead to surfactant deficiency and increased infection risk.
Gain of Function (GOF)
Not reported for SFTPA1.
Dominant Negative (DN)
Heterozygous missense variants may interfere with wild-type SP-A1 oligomerization, reducing overall function.
View complete mutation data：
Gene Ontology (GO)
| • surfactant homeostasis | • innate immune response |
| • pathogen recognition | • phospholipid binding |
| • alveolar lamellar body |
Pathways
• Pulmonary surfactant metabolism
• Collectin-mediated innate immunity
Protein Summary
SFTPA1 encodes surfactant protein A1, a 248-amino acid collectin that forms oligomers to bind phospholipids and microbial surfaces. It is secreted by alveolar type II cells and Clara cells, playing a critical role in reducing surface tension and opsonizing pathogens for clearance.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SFTPA1 Knockout HEK293 Cell Line | EDJ-KQ3414 | Human | 653509 | Details Get a Quote |
| SFTPA1 Knockout HeLa Cell Line | EDJ-KQ60651 | Human | 653509 | Details Get a Quote |
| SFTPA1 Knockout A-549 Cell Line | EDJ-KQ69124 | Human | 653509 | Details Get a Quote |
| SFTPA1 Knockout HCT 116 Cell Line | EDJ-KQ77476 | Human | 653509 | Details Get a Quote |
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