Human Gene SFTPB (ENST00000409383.6) from GENCODE V44
Description: Pulmonary surfactant-associated proteins promote alveolar stability by lowering the surface tension at the air- liquid interface in the peripheral air spaces. SP-B increases the collapse pressure of palmitic acid to nearly 70 millinewtons per meter. (from UniProt P07988) RefSeq Summary (NM_198843): This gene encodes the pulmonary-associated surfactant protein B (SPB), an amphipathic surfactant protein essential for lung function and homeostasis after birth. Pulmonary surfactant is a surface-active lipoprotein complex composed of 90% lipids and 10% proteins which include plasma proteins and apolipoproteins SPA, SPB, SPC and SPD. The surfactant is secreted by the alveolar cells of the lung and maintains the stability of pulmonary tissue by reducing the surface tension of fluids that coat the lung. The SPB enhances the rate of spreading and increases the stability of surfactant monolayers in vitro. Multiple mutations in this gene have been identified, which cause pulmonary surfactant metabolism dysfunction type 1, also called pulmonary alveolar proteinosis due to surfactant protein B deficiency, and are associated with fatal respiratory distress in the neonatal period. Alternatively spliced transcript variants encoding the same protein have been identified.[provided by RefSeq, Feb 2010]. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments. CCDS Note: The coding region has been updated to start at a downstream in-frame start codon that is supported by conservation data. Gencode Transcript: ENST00000409383.6 Gencode Gene: ENSG00000168878.19 Transcript (Including UTRs) Position: hg38 chr2:85,658,290-85,668,741 Size: 10,452 Total Exon Count: 12 Strand: - Coding Region Position: hg38 chr2:85,661,473-85,668,183 Size: 6,711 Coding Exon Count: 10
ID:PSPB_HUMAN DESCRIPTION: RecName: Full=Pulmonary surfactant-associated protein B; Short=SP-B; AltName: Full=18 kDa pulmonary-surfactant protein; AltName: Full=6 kDa protein; AltName: Full=Pulmonary surfactant-associated proteolipid SPL(Phe); 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. SP-B increases the collapse pressure of palmitic acid to nearly 70 millinewtons per meter. SUBUNIT: Homodimer; disulfide-linked. SUBCELLULAR LOCATION: Secreted, extracellular space, surface film. DISEASE: Defects in SFTPB are the cause of pulmonary surfactant metabolism dysfunction type 1 (SMDP1) [MIM:265120]; also called pulmonary alveolar proteinosis due to surfactant protein B deficiency. A rare lung disorder 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 SFTPB are a cause of susceptibility to respiratory distress syndrome in premature infants (RDS) [MIM:267450]. 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=A variation Ile to Thr at position 131 influences the association between specific alleles of SFTPA1 and respiratory distress syndrome in premature infants. 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 saposin A-type domain. SIMILARITY: Contains 3 saposin B-type domains. SEQUENCE CAUTION: Sequence=AAA88099.1; Type=Erroneous initiation; WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/SFTPB"; WEB RESOURCE: Name=SeattleSNPs; URL="http://pga.gs.washington.edu/data/sftpb/";
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 P07988
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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.
Biological Process: GO:0006629 lipid metabolic process GO:0006665 sphingolipid metabolic process GO:0007585 respiratory gaseous exchange GO:0009887 animal organ morphogenesis GO:0043085 positive regulation of catalytic activity GO:0044267 cellular protein metabolic process