InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: NDE1

Summary

InnateDB Protein

IDBP-237682.7

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

NDE1

Protein Name

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

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000379642

InnateDB Gene

IDBG-16229 (NDE1)

Protein Structure

UniProt Annotation

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:0000269PubMed:17600710, ECO:0000269PubMed:21529752}.

Subcellular Localization

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.

Disease Associations

Lissencephaly 4 (LIS4) [MIM:614019]: A neurodevelopmental disorder characterized by lissencephaly, severe brain atrophy, extreme microcephaly, and profound mental retardation. {ECO:0000269PubMed:21529751, ECO:0000269PubMed:21529752}. Note=The disease is caused by mutations affecting the gene represented in this entry.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:0000269PubMed:22526350}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Expressed in the neuroepithelium throughout the developing brain, including the cerebral cortex and cerebellum. {ECO:0000269PubMed:21529752}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 29 experimentally validated interaction(s) in this database.
They are also associated with 10 interaction(s) predicted by orthology.

Experimentally validated
Total	29 [view]
Protein-Protein	29 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	10 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005515	protein binding
GO:0008017	microtubule binding

Biological Process

GO:0000086	G2/M transition of mitotic cell cycle
GO:0000132	establishment of mitotic spindle orientation
GO:0000278	mitotic cell cycle
GO:0007067	mitotic nuclear division
GO:0021987	cerebral cortex development
GO:0051298	centrosome duplication
GO:0051303	establishment of chromosome localization

Cellular Component

GO:0000776	kinetochore
GO:0000777	condensed chromosome kinetochore
GO:0005813	centrosome
GO:0005829	cytosol
GO:0005874	microtubule
GO:0016020	membrane
GO:0031616	spindle pole centrosome
GO:0032154	cleavage furrow