Resumen
Kir7.1 is an inwardly rectifying K+ channel present in epithelia where it shares membrane localization with the Na+/K+-pump. In the present communication we report the presence of a novel splice variant of Kir7.1 in mouse tissues including kidney, lung, choroid plexus and retinal pigment epithelium (RPE). The variant named mKir7.1-SV2 lacks most of the C-terminus domain but is predicted to have the two transmembrane domains and permeation pathway unaffected. Similarly truncated predicted proteins, Kir7.1-R166X and Kir7.1-Q219X, would arise from mutations associated with Leber Congenital Amaurosis, a rare recessive hereditary retinal disease that results in vision loss at early age. We found that mKir7.1-SV2 and the pathological variants do not produce any channel activity when expressed alone in HEK-293 cells due to their scarce presence in the plasma membrane. Simultaneous expression with the full length Kir7.1 however leads to a reduction in activity of the wild-type channel that might be due to partial proteasome degradation of WT-mutant channel heteromers.
Idioma original | Inglés |
---|---|
Páginas (desde-hasta) | 574-579 |
Número de páginas | 6 |
Publicación | Biochemical and Biophysical Research Communications |
Volumen | 514 |
N.º | 3 |
DOI | |
Estado | Publicada - 2019 |
Publicado de forma externa | Sí |
Nota bibliográfica
Publisher Copyright:© 2019 Elsevier Inc.
Áreas temáticas de ASJC Scopus
- Biofísica
- Bioquímica
- Biología molecular
- Biología celular