ID:PSPC_HUMAN DESCRIPTION: RecName: Full=Pulmonary surfactant-associated protein C; Short=SP-C; AltName: Full=Pulmonary surfactant-associated proteolipid SPL(Val); AltName: Full=SP5; Flags: Precursor; FUNCTION: Pulmonary surfactant associated proteins promote alveolar stability by lowering the surface tension at the air- liquid interface in the peripheral air spaces. SUBCELLULAR LOCATION: Secreted, extracellular space, surface film. DISEASE: Defects in SFTPC are the cause of pulmonary surfactant metabolism dysfunction type 2 (SMDP2) [MIM:610913]; also called pulmonary alveolar proteinosis due to surfactant protein C deficiency. A rare disease associated with progressive respiratory insufficiency and lung disease with a variable clinical course, due to impaired surfactant homeostasis. It is characterized by alveolar filling with floccular material that stains positive using the periodic acid-Schiff method and is derived from surfactant phospholipids and protein components. Excessive lipoproteins accumulation in the alveoli results in severe respiratory distress. DISEASE: Genetic variations in SFTPC are a cause of susceptibility to respiratory distress syndrome in premature infants (RDS) [MIM:267450]; also known as RDS in prematurity. RDS is 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'. MISCELLANEOUS: Pulmonary surfactant consists of 90% lipid and 10% protein. There are 4 surfactant-associated proteins: 2 collagenous, carbohydrate-binding glycoproteins (SP-A and SP-D) and 2 small hydrophobic proteins (SP-B and SP-C). SIMILARITY: Contains 1 BRICHOS domain. WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/SFTPC"; WEB RESOURCE: Name=SeattleSNPs; URL="http://pga.gs.washington.edu/data/sftpc/";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on P11686
Front
Top
Side
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.
Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
US Server
Sequence and Links to Tools and Databases 
Common Gene Haplotype Alleles 
