Description: Homo sapiens surfactant protein A1 (SFTPA1), transcript variant 2, mRNA. RefSeq Summary (NM_001093770): 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]. Transcript (Including UTRs) Position: hg19 chr10:81,370,695-81,375,199 Size: 4,505 Total Exon Count: 6 Strand: + Coding Region Position: hg19 chr10:81,371,376-81,373,869 Size: 2,494 Coding Exon Count: 5
bronchopulmonary aspergillosis Saxena, S. et al. 2003, Association of polymorphisms in the collagen region of SP-A2 with increased levels of total IgE antibodies and eosinophilia in patients with allergic bronchopulmonary aspergillosis., The Journal of allergy and clinical immunology. 2003 May;111(5):1001-7.
[PubMed 12743564]
The results indicated that SP-A2 G1649C and SP-A2 A1660G, polymorphisms in the collagen region of SP-A2, might be one of the contributing factors to genetic predisposition and severity of clinical markers of ABPA.
bronchopulmonary dysplasia Weber, B. et al. 2000, Polymorphisms of surfactant protein A genes and the risk of bronchopulmonary dysplasia in preterm infants, The Turkish journal of pediatrics. 2000 Jul-Sep;42(3):181-5.
[PubMed 11105614]
In addition to previously established risk factors for BPD, 6A6 polymorphism for SP-A1 gene is an independent co-factor. We believe treatment of neonatal RDS should also include stratification according to genetic risk factors.
cystic fibrosis , Association of Common Haplotypes of Surfactant Protein A1 and A2 (SFTPA1 and SFTPA2) Genes with Severity of Lung Disease in Cystic Fibrosis, Pediatr Pulmonol 2006.
[PubMed 16429424]
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 G5E9J3
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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.