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GeneE
25 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
SFTPA1
surfactant protein A1
Chromosome 10 Β· 10q22.3
NCBI Gene: 653509Ensembl: ENSG00000122852.16HGNC: HGNC:10798UniProt: B4DNP6
206PubMed Papers
22Diseases
0Drugs
4Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein bindingopsonizationGO:0005615multivesicular bodyinterstitial lung diseaseinterstitial lung disease 1neurodegenerative diseaserespiratory distress syndrome in premature infants
✦AI Summary

SFTPA1 encodes surfactant protein A1 (SP-A1), a critical component of the pulmonary surfactant system that plays dual roles in lung homeostasis and host defense. The protein functions primarily in innate immunity through opsonization and pathogen recognition, with demonstrated ability to bind Mycobacterium pneumoniae CARDS toxin and serve as a receptor for this pathogen 1. SFTPA1 exhibits significant genetic variability with multiple variants that are differentially regulated at the transcriptional and post-transcriptional levels 2. The gene's 3' untranslated region contains polymorphic elements, including an 11-nucleotide indel, that affect translation efficiency and microRNA binding, leading to variant-specific expression patterns 34. Disease relevance includes susceptibility to tuberculosis, with specific SFTPA1 variants associated with increased risk 5. Pathogenic mutations cause interstitial lung disease with highly variable phenotypic expression, ranging from severe forms requiring lung transplantation to asymptomatic carriers 6. Importantly, SFTPA1 variant carriers show dramatically increased lung cancer risk compared to other genetic lung disease patients, with adenocarcinoma being the predominant histological type 7. The protein's dysfunction impairs secretion while preserving production, suggesting defective trafficking mechanisms 6.

Sources cited
1
SFTPA1 binds M.pneumoniae CARDS toxin and serves as pathogen receptor
PMID: 25139904
2
SFTPA1 shows significant genetic variability and differential regulation
PMID: 34917085
3
3'UTR polymorphisms affect miRNA regulation and gene expression
PMID: 24793167
4
11-nucleotide element in 3'UTR affects translation efficiency
PMID: 20693318
5
SFTPA1 variants associated with tuberculosis susceptibility
PMID: 16292672
6
Pathogenic mutations cause ILD with variable phenotype and impaired protein secretion
PMID: 32855221
7
SFTPA1 carriers have high lung cancer risk, predominantly adenocarcinoma
PMID: 38575158
Disease Associationsβ“˜22
interstitial lung diseaseOpen Targets
0.63Moderate
interstitial lung disease 1Open Targets
0.60Moderate
neurodegenerative diseaseOpen Targets
0.28Weak
respiratory distress syndrome in premature infantsOpen Targets
0.18Weak
idiopathic pulmonary fibrosisOpen Targets
0.14Weak
proximal 16p11.2 microdeletion syndromeOpen Targets
0.12Weak
infectionOpen Targets
0.11Weak
cystic fibrosisOpen Targets
0.09Suggestive
chronic obstructive pulmonary diseaseOpen Targets
0.09Suggestive
lung adenocarcinomaOpen Targets
0.08Suggestive
acute respiratory distress syndromeOpen Targets
0.08Suggestive
neoplasmOpen Targets
0.08Suggestive
cryopyrin-associated periodic syndromeOpen Targets
0.08Suggestive
Immunodeficiency due to a late component of complements deficiencyOpen Targets
0.08Suggestive
idiopathic interstitial pneumoniaOpen Targets
0.08Suggestive
Abnormality of the skeletal systemOpen Targets
0.07Suggestive
pneumoniaOpen Targets
0.07Suggestive
Autosomal recessive hyper-IgE syndromeOpen Targets
0.07Suggestive
keratoconusOpen Targets
0.06Suggestive
COVID-19Open Targets
0.06Suggestive
Interstitial lung disease 1UniProt
Respiratory distress syndrome in premature infantsUniProt
Pathogenic Variants4
NM_005411.5(SFTPA1):c.532G>A (p.Val178Met)Pathogenic
Interstitial lung disease 1
β˜†β˜†β˜†β˜†2021β†’ Residue 178
NM_005411.5(SFTPA1):c.622T>C (p.Tyr208His)Pathogenic
Interstitial lung disease 1
β˜†β˜†β˜†β˜†2021β†’ Residue 208
NM_005411.5(SFTPA1):c.631T>C (p.Trp211Arg)Pathogenic
Interstitial lung disease 1
β˜†β˜†β˜†β˜†2021β†’ Residue 211
NM_005411.5(SFTPA1):c.673G>A (p.Val225Met)Pathogenic
Interstitial lung disease 1
β˜†β˜†β˜†β˜†2021β†’ Residue 225
View on ClinVar β†—
Related Genes
AGERProtein interaction100%NKX2-1Protein interaction90%SFTPBProtein interaction83%SFTPCProtein interaction83%SFTPDProtein interaction83%SCGB1A1Protein interaction83%
Tissue Expression6 tissues
Lung
100%
Liver
0%
Brain
0%
Heart
0%
Ovary
0%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
SFTPA1AGERNKX2-1SFTPBSFTPCSFTPDSCGB1A1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q8IWL2
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.03LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.66 [0.43–1.03]
RankingsWhere SFTPA1 stands among ~20K protein-coding genes
  • #2,035of 20,598
    Most Researched206 Β· top 10%
  • #3,698of 5,498
    Most Pathogenic Variants4
  • #10,111of 17,882
    Most Constrained (LOEUF)1.03
Genes detectedSFTPA1
Sources retrieved25 papers
Response timeβ€”
πŸ“„ Sources
25β–Ό
1
Dissecting intratumoral myeloid cell plasticity by single cell RNA-seq.
PMID: 31033233
Cancer Med Β· 2019
1.00
2
Differential Regulation of Human Surfactant Protein A Genes, SFTPA1 and SFTPA2, and Their Corresponding Variants.
PMID: 34917085
Front Immunol Β· 2021
0.90
3
Humanized SFTPA1 and SFTPA2 transgenic mice reveal functional divergence of SP-A1 and SP-A2: formation of tubular myelin in vivo requires both gene products.
PMID: 20048345
J Biol Chem Β· 2010
0.84
4
An 11-nt sequence polymorphism at the 3'UTR of human SFTPA1 and SFTPA2 gene variants differentially affect gene expression levels and miRNA regulation in cell culture.
PMID: 24793167
Am J Physiol Lung Cell Mol Physiol Β· 2014
0.80
5
Comprehensive Characterization of Somatic Mutation Timing Reveals the Evolutionary Trajectory of Lung Adenocarcinoma in Chinese Patients.
PMID: 40479597
Cancer Res Β· 2025
0.70