SFTPA1 gene

surfactant protein A1

The information on this page was automatically extracted from online scientific databases.

From NCBI 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]

From UniProt:

(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).

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).

Covered on Genetics Home Reference:

From UniProt:

Pulmonary fibrosis, idiopathic (IPF): A lung disease characterized by shortness of breath, radiographically evident diffuse pulmonary infiltrates, and varying degrees of inflammation and fibrosis on biopsy. In some cases, the disorder can be rapidly progressive and characterized by sequential acute lung injury with subsequent scarring and end-stage lung disease. [MIM:178500]

Respiratory distress syndrome in premature infants (RDS): A lung disease affecting usually premature newborn infants. It is characterized by deficient gas exchange, diffuse atelectasis, high-permeability lung edema and fibrin-rich alveolar deposits called 'hyaline membranes'. [MIM:267450]

Cytogenetic Location: 10q22.3, which is the long (q) arm of chromosome 10 at position 22.3

Molecular Location: base pairs 79,610,939 to 79,615,455 on chromosome 10 (Homo sapiens Updated Annotation Release 109.20200522, GRCh38.p13) (NCBI)

Cytogenetic Location: 10q22.3, which is the long (q) arm of chromosome 10 at position 22.3
  • COLEC4
  • PSAP
  • PSP-A
  • PSPA
  • SFTP1
  • SP-A
  • SP-A1
  • SP-A1 beta
  • SP-A1 delta
  • SP-A1 epsilon
  • SP-A1 gamma
  • SPA
  • SPA1