ID:SFTA1_HUMAN DESCRIPTION: RecName: Full=Pulmonary surfactant-associated protein A1; Short=PSP-A; Short=PSPA; Short=SP-A; Short=SP-A1; AltName: Full=35 kDa pulmonary surfactant-associated protein; AltName: Full=Alveolar proteinosis protein; AltName: Full=Collectin-4; Flags: Precursor; FUNCTION: 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. SUBUNIT: Oligomeric complex of 6 set of homotrimers. SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular matrix. Secreted, extracellular space, surface film. POLYMORPHISM: At least 5 allelic variants of SFTPA1 are known: 6A, 6A(2), 6A(3), 6A(4) and 6A(5). The sequence shown is that of allele 6A(3). DISEASE: Genetic variations in SFTPA1 are a cause of susceptibility to pulmonary fibrosis idiopathic (IPF) [MIM:178500]. Pulmonary fibrosis is a lung disease characterized by shortness of breath, radiographically evident diffuse pulmonary infiltrates, and varying degrees of inflammation and fibrosis on biopsy. It results in acute lung injury with subsequent scarring and endstage lung disease. DISEASE: Genetic variations in SFTPA1 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'. Note=The association between SFTPA1 alleles and respiratory distress syndrome in premature infants is dependent on a variation Ile to Thr at position 131 in SFTPB. 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: Belongs to the SFTPA family. SIMILARITY: Contains 1 C-type lectin domain. SIMILARITY: Contains 1 collagen-like domain. SEQUENCE CAUTION: Sequence=CAI16065.1; Type=Erroneous gene model prediction; WEB RESOURCE: Name=SeattleSNPs; URL="http://pga.gs.washington.edu/data/sftpa1/"; WEB RESOURCE: Name=Functional Glycomics Gateway - Glycan Binding; Note=Pulmonary surfactant protein SP-A1; URL="http://www.functionalglycomics.org/glycomics/GBPServlet?&operationType=view&cbpId=cbp_hum_Ctlect_232";
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 Q8IWL2
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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 
