NDE1: NudE Neurodevelopment Protein 1
A key regulator of centrosome duplication, microtubule organization, and neuronal migration; implicated in microcephaly and lissencephaly.
Gene Information Card
| Symbol | NDE1 |
|---|---|
| Full Name | NudE Neurodevelopment Protein 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 16p13.11 |
| NCBI Gene ID | 54820 ncbi.nlm.nih.gov/gene/54820 |
| Ensembl ID | ENSG00000140937 |
| UniProt ID | Q9NXR1 |
| OMIM ID | 609449 |
| HGNC ID | 17619 |
| Aliases | NUDEL, NDE, NDE1, NUDE1, NUDEL1 |
Description
NDE1 encodes a protein that is essential for centrosome duplication, microtubule organization, and neuronal migration. It interacts with the dynein motor complex and the LIS1 protein to regulate nuclear positioning and cell division. Loss-of-function mutations in NDE1 cause severe microcephaly and lissencephaly, highlighting its critical role in brain development.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Microcephaly, primary, autosomal recessive 4 (MCPH4) | Loss of NDE1 function disrupts centrosome duplication and mitotic spindle orientation, leading to reduced neuronal progenitor proliferation. | OMIM #604213; PMID: 21620354 |
| Lissencephaly 4 (LIS4) | Biallelic NDE1 mutations impair neuronal migration and cortical lamination, resulting in a smooth brain surface. | OMIM #614019; PMID: 21620354 |
| Schizophrenia (susceptibility) | Rare copy number variants at 16p13.11 including NDE1 are associated with increased risk. | PMID: 20489179 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain (cerebral cortex) | 12.5 | High |
| Testis | 8.2 | Medium |
| Kidney | 6.1 | Medium |
| Lung | 4.8 | Low |
| Liver | 2.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 15.3 | Neuronal model |
| HEK293 (embryonic kidney) | 9.7 | Common cell line |
| HeLa (cervical carcinoma) | 7.4 | Epithelial |
| U-87 MG (glioblastoma) | 11.2 | Brain tumor |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.471G>A (p.Trp157*) | Nonsense | Rare | Loss of function; truncation |
| c.671_672delAG (p.Glu224Valfs*3) | Frameshift | Rare | Loss of function; premature stop |
| c.1A>G (p.Met1?) | Start loss | Rare | Loss of function; no translation |
| c.949C>T (p.Arg317Trp) | Missense | Rare | Likely loss of function; disrupts LIS1 binding |
Mutation functional classification
Loss of Function (LOF)
Most NDE1 disease-associated mutations are loss-of-function, leading to haploinsufficiency or complete absence of functional protein, causing microcephaly and lissencephaly.
Gain of Function (GOF)
No gain-of-function mutations have been reported for NDE1.
Dominant Negative (DN)
No dominant-negative mutations have been characterized for NDE1.
View complete mutation data：
Gene Ontology (GO)
| • Centrosome duplication (GO:0051298) | • Microtubule cytoskeleton organization (GO:0000226) |
| • Neuronal migration (GO:0001764) | • Protein binding (GO:0005515) |
| • Mitotic spindle organization (GO:0007052) |
Pathways
• LIS1-NDE1-NDEL1 pathway in neuronal migration
• Centrosome maturation and duplication
• Dynein-mediated microtubule transport
Protein Summary
NDE1 is a 345-amino acid protein that localizes to the centrosome and interacts with LIS1, dynein, and other microtubule-associated proteins. It regulates nuclear migration during neuronal development and ensures proper mitotic spindle orientation. The protein contains a coiled-coil domain essential for dimerization and binding to LIS1. NDE1 is highly expressed in the developing brain and testis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| NDE1 Knockout HEK293 Cell Line | EDJ-KQ14400 | Human | 54820 | Details Get a Quote |
| NDE1 Knockout A-549 Cell Line | EDJ-KQ44579 | Human | 54820 | Details Get a Quote |
| NDE1 Knockout HCT 116 Cell Line | EDJ-KQ44580 | Human | 54820 | Details Get a Quote |
| NDE1 Knockout HeLa Cell Line | EDJ-KQ44581 | Human | 54820 | Details Get a Quote |
