InnateDB Protein
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IDBP-237680.7
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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NDE1
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Protein Name
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nudE nuclear distribution gene E homolog 1 (A. nidulans)
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Synonyms
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000379643
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InnateDB Gene
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IDBG-16229 (NDE1)
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Protein Structure
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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}.
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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.
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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.
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Tissue Specificity |
Expressed in the neuroepithelium throughout the developing brain, including the cerebral cortex and cerebellum. {ECO:0000269PubMed:21529752}.
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Comments |
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Number of Interactions
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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]
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Protein-Protein |
29
[view]
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Protein-DNA |
0
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Predicted by orthology |
Total |
10 [view]
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Molecular Function |
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR006964
NUDE protein, C-terminal
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PFAM |
PF04880
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PRINTS |
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PIRSF |
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SMART |
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TIGRFAMs |
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Modification |
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SwissProt |
Q9NXR1
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PhosphoSite |
PhosphoSite-Q9NXR1
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TrEMBL |
X5DR54
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UniProt Splice Variant |
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Entrez Gene |
54820
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UniGene |
Hs.655378
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RefSeq |
NP_001137451
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HUGO |
HGNC:17619
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OMIM |
609449
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CCDS |
CCDS10564
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HPRD |
14815
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IMGT |
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EMBL |
AC026401
AF001548
AK000108
BC001421
BC033900
CH471226
KJ534887
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GenPept |
AAH01421
AAH33900
AHW56527
BAA90949
EAW53932
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