NDE1

This gene encodes a member of the nuclear distribution E (NudE) family of proteins. The encoded protein is localized at the centrosome and interacts with other centrosome components as part of a multiprotein complex that regulates dynein function. This protein plays an essential role in microtubule organization, mitosis and neuronal migration. Alternative splicing results in multiple transcript variants. [provided by RefSeq]

Full Name

nudE nuclear distribution gene E homolog 1 (A. nidulans)

Function

Required for centrosome duplication and formation and function of the mitotic spindle. Essential for the development of the cerebral cortex. May regulate the production of neurons by controlling the orientation of the mitotic spindle during division of cortical neuronal progenitors of the proliferative ventricular zone of the brain. Orientation of the division plane perpendicular to the layers of the cortex gives rise to two proliferative neuronal progenitors whereas parallel orientation of the division plane yields one proliferative neuronal progenitor and a post-mitotic neuron. A premature shift towards a neuronal fate within the progenitor population may result in an overall reduction in the final number of neurons and an increase in the number of neurons in the deeper layers of the cortex.

Biological Process

Cell division Source: UniProtKB-KW
Cell migration Source: GO_Central
Centrosome duplication Source: UniProtKB
Centrosome localization Source: GO_Central
Cerebral cortex development Source: UniProtKB
Chromosome segregation Source: GO_Central
Establishment of chromosome localization Source: UniProtKB
Establishment of mitotic spindle orientation Source: UniProtKB
Microtubule nucleation Source: GO_Central
Mitotic centrosome separation Source: GO_Central
Neuroblast proliferation Source: Ensembl
Neuron migration Source: Ensembl
Vesicle transport along microtubule Source: GO_Central

Cellular Location

Cytoskeleton
Centrosome
Spindle
Other locations
kinetochore
Cleavage furrow
Note: Localizes to the interphase and S phase centrosome. During mitosis, partially associated with the mitotic spindle. Concentrates at the plus ends of microtubules coincident with kinetochores in metaphase and anaphase in a CENPF-dependent manner. Also localizes to the cleavage furrow during cytokinesis. manner. Also localizes to the cleavage furrow during cytokinesis.

Involvement in disease

Lissencephaly 4 (LIS4):
A neurodevelopmental disorder characterized by lissencephaly, severe brain atrophy, extreme microcephaly, and profound mental retardation.
Microhydranencephaly (MHAC):
A severe neurodevelopmental disorder characterized by microcephaly, severe motor and mental retardation, spasticity, and brain malformations that include gross dilation of the ventricles with complete absence of the cerebral hemispheres or severe delay in their development.

PTM

Phosphorylated in mitosis. Phosphorylated in vitro by CDC2. Phosphorylation at Thr-246 is essential for the G2/M transition (By similarity).