Dynein regulator LIS1 (IPR017252)
Short name: Dynein_regulator_LIS1
Overlapping homologous superfamilies
- WD40/YVTN repeat-like-containing domain superfamily (IPR015943)
- WD40-repeat-containing domain superfamily (IPR036322)
- LIS1, N-terminal (IPR037190)
This entry represents Lissencephaly-1 (LIS1) and homologues. LIS1 is required for nuclear migration in fungi, cell cycle progression in mammals, and the formation of a folded cerebral cortex in humans. They appear to regulate the mechanical behaviour of cytoplasmic dynein, the primary minus-end-directed microtubule motor [PMID: 22939623]. Proteins in this entry include:
- Platelet-activating factor acetylhydrolase IB subunit alpha, also known as Lissencephaly-1 protein [PMID: 15173193].
- Nuclear distribution protein PAC1 from budding yeasts [PMID: 22939623].
- Fungal nuclear distribution protein nudF [PMID: 11369237, PMID: 18390647].
Mutations in the LIS1 gene cause Lissencephaly-1, a classical lissencephaly characterised by agyria or pachygyria and disorganization of the clear neuronal lamination of normal six-layered cortex [PMID: 9063735].