Structural highlights
Disease
VP13A_HUMAN Choreoacanthocytosis. The disease is caused by variants affecting the gene represented in this entry.
Function
VP13A_HUMAN Mediates the transfer of lipids between membranes at organelle contact sites (By similarity). Binds phospholipids (PubMed:34830155). Required for the formation or stabilization of ER-mitochondria contact sites which enable transfer of lipids between the ER and mitochondria (PubMed:30741634). Negatively regulates lipid droplet size and motility (PubMed:30741634). Required for efficient lysosomal protein degradation (PubMed:30709847).[UniProtKB:Q07878][1] [2] [3]
References
- ↑ Munoz-Braceras S, Tornero-Ecija AR, Vincent O, Escalante R. VPS13A is closely associated with mitochondria and is required for efficient lysosomal degradation. Dis Model Mech. 2019 Feb 22;12(2):dmm036681. doi: 10.1242/dmm.036681. PMID:30709847 doi:https://dx.doi.org/10.1242/dmm.036681
- ↑ Yeshaw WM, van der Zwaag M, Pinto F, Lahaye LL, Faber AI, Gomez-Sanchez R, Dolga AM, Poland C, Monaco AP, van IJzendoorn SC, Grzeschik NA, Velayos-Baeza A, Sibon OC. Human VPS13A is associated with multiple organelles and influences mitochondrial morphology and lipid droplet motility. Elife. 2019 Feb 11;8:e43561. doi: 10.7554/eLife.43561. PMID:30741634 doi:https://dx.doi.org/10.7554/eLife.43561
- ↑ Kolakowski D, Rzepnikowska W, Kaniak-Golik A, Zoladek T, Kaminska J. The GTPase Arf1 Is a Determinant of Yeast Vps13 Localization to the Golgi Apparatus. Int J Mol Sci. 2021 Nov 12;22(22):12274. doi: 10.3390/ijms222212274. PMID:34830155 doi:https://dx.doi.org/10.3390/ijms222212274