Entity Details

Primary name SFTPA1
Entity type gene
Source Source Link

Details

PrimaryID653509
RefseqGeneNG_021189
SymbolSFTPA1
Namesurfactant protein A1
Chromosome10
Location10q22.3
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2005-12-20
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsSFTA1_HUMAN

GO terms

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GOName
GO:0002224 toll-like receptor signaling pathway
GO:0005319 lipid transporter activity
GO:0005576 extracellular region
GO:0005581 collagen trimer
GO:0005615 extracellular space
GO:0005771 multivesicular body
GO:0005789 endoplasmic reticulum membrane
GO:0005791 rough endoplasmic reticulum
GO:0007585 respiratory gaseous exchange by respiratory system
GO:0008228 opsonization
GO:0030246 carbohydrate binding
GO:0042599 lamellar body
GO:0044267 cellular protein metabolic process
GO:0045334 clathrin-coated endocytic vesicle

Diseases

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Disease IDSourceNameDescription
178500 OMIMPulmonary 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. Disease susceptibility is associated with variants affecting the gene represented in this entry.
267450 OMIMRespiratory 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'. Disease susceptibility may be associated with variants affecting the gene represented in this entry. 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.

Interactions

7 interactions