Aliases for SFTPA1 Gene
External Ids for SFTPA1 Gene
Previous HGNC Symbols for SFTPA1 Gene
Previous GeneCards Identifiers for SFTPA1 Gene
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]
GeneCards Summary for SFTPA1 Gene
SFTPA1 (Surfactant Protein A1) is a Protein Coding gene. Diseases associated with SFTPA1 include Pulmonary Fibrosis and Pulmonary Fibrosis, Idiopathic. Among its related pathways are Defective CSF2RB causes pulmonary surfactant metabolism dysfunction 5 (SMDP5) and Bacterial infections in CF airways. Gene Ontology (GO) annotations related to this gene include carbohydrate binding and lipid transporter activity. An important paralog of this gene is SFTPA2.
UniProtKB/Swiss-Prot Summary for SFTPA1 Gene
In presence of calcium ions, it binds to surfactant phospholipids and contributes to lower the surface tension at the air-liquid interface in the alveoli of the mammalian lung and is essential for normal respiration. Enhances the expression of MYO18A/SP-R210 on alveolar macrophages (By similarity).
(Microbial infection) Recognition of M.tuberculosis by dendritic cells may occur partially via this molecule (PubMed:17158455, PubMed:21203928). Can recognize, bind, and opsonize pathogens to enhance their elimination by alveolar macrophages (PubMed:21123169).