Ψ SEC14L3 - Physeter catodon

Reference Gene:
Job_ID:
Curator:
GlossID Species Gene Loss Mechanism Loss Type Lineage Specific Evidence Accession Nr.
GL_QPZZAW Physeter catodon LOF (frameshift, premature stop, ss) Full Yes Multiple individual SRA

Statements

Type Excerpt DOI
Functional "The second lung-expressed gene SEC14L3 is expressed in airway ciliated cells and in alveolar type II cells that secrete pulmonary surfactant, the lipid-protein complex that prevents alveoli collapse (44, 45)." 10.1126/sciadv.aaw6671
Functional "SEC14L3 functions as a sensor of liposomal lipid-packing defects and may affect surfactant composition (45)." 10.1126/sciadv.aaw6671
Phenotypic "Alterations in surfactant composition may be relevant for cetaceans and other diving mammals. A study in seals suggested that pulmonary surfactants with anti-adhesive properties are important for diving mammals by facilitating alveolar reinflation after collapse (46)." 10.1126/sciadv.aaw6671

Curator Observations

Authors identified a conserved mutation in the 5´ splice site of exon 7.