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MGP005330

UniProt Annotations

Entry Information

Gene Name	nudE neurodevelopment protein 1
Protein Entry	NDE1_HUMAN
UniProt ID	Q9NXR1
Species	Human

Comments

Comment type	Description
Alternative Products	Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9NXR1-1; Sequence=Displayed; Name=2; IsoId=Q9NXR1-2; Sequence=VSP_019305;
Disease	Lissencephaly 4 (LIS4) [MIM:614019]: A neurodevelopmental disorder characterized by lissencephaly, severe brain atrophy, extreme microcephaly, and profound mental retardation. {ECO:0000269\|PubMed:21529751, ECO:0000269\|PubMed:21529752}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Disease	Microhydranencephaly (MHAC) [MIM:605013]: 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. {ECO:0000269\|PubMed:22526350}. Note=The disease is caused by mutations affecting the gene represented in this entry.
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. {ECO:0000269\|PubMed:17600710, ECO:0000269\|PubMed:21529752}.
Interaction	Q70YC5:ZNF365; NbExp=4; IntAct=EBI-941227, EBI-941182;
Ptm	Phosphorylated in mitosis. Phosphorylated in vitro by CDC2. Phosphorylation at Thr-246 is essential for the G2/M transition (By similarity). {ECO:0000250}.
Similarity	Belongs to the nudE family. {ECO:0000305}.
Subcellular Location	Cytoplasm, cytoskeleton. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Chromosome, centromere, kinetochore. Cytoplasm, cytoskeleton, spindle. 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.
Subunit	Self-associates. Interacts with CNTRL, LIS1, dynein, SLMAP and TCP1 (By similarity). Interacts with CENPF, dynactin, tubulin gamma, PAFAH1B1, PCM1 and PCNT. Interacts with ZNF365. {ECO:0000250, ECO:0000269\|PubMed:16291865, ECO:0000269\|PubMed:16682949, ECO:0000269\|PubMed:17600710}.
Tissue Specificity	Expressed in the neuroepithelium throughout the developing brain, including the cerebral cortex and cerebellum. {ECO:0000269\|PubMed:21529752}.