NDEL1: NudE Neurodevelopment Protein 1 Like 1
Key regulator of dynein motor function, microtubule organization, and neuronal migration; implicated in neurodevelopmental disorders and cancer.
Gene Information Card
| Symbol | NDEL1 |
|---|---|
| Full Name | NudE neurodevelopment protein 1 like 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 17p13.1 |
| NCBI Gene ID | 81565 ncbi.nlm.nih.gov/gene/81565 |
| Ensembl ID | ENSG00000108379 |
| UniProt ID | Q9GZM8 |
| OMIM ID | 607538 |
| HGNC ID | 17620 |
| Aliases | NUDEL, NUDEL1, MITAP1, END1 |
Description
NDEL1 (NudE neurodevelopment protein 1 like 1) encodes a coiled-coil protein that interacts with the dynein motor complex and microtubule-associated proteins. It is essential for cytoplasmic dynein function, mitotic spindle orientation, and neuronal migration during brain development. NDEL1 also plays roles in centrosome duplication, ciliogenesis, and cell cycle progression. Mutations and altered expression are linked to neurodevelopmental disorders (e.g., lissencephaly, schizophrenia) and various cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Lissencephaly (isolated, with cerebellar hypoplasia) | Disrupted NDEL1-dynein interaction impairs neuronal migration and cortical layering | OMIM #607538; PMID: 16908628 |
| Schizophrenia | NDEL1 variants affect DISC1 binding and neurite outgrowth; altered expression in postmortem brain | OMIM #607538; PMID: 18394462 |
| Breast cancer | Overexpression promotes centrosome amplification and aneuploidy | COSMIC; PMID: 20010870 |
| Glioblastoma | NDEL1 upregulation correlates with poor prognosis; enhances cell migration and invasion | COSMIC; PMID: 25122636 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain (cerebral cortex) | 12.5 | High |
| Testis | 8.3 | Medium |
| Lung | 6.1 | Medium |
| Heart | 4.7 | Low |
| Liver | 2.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 15.2 | Neuronal model; high expression |
| HeLa (cervical carcinoma) | 9.8 | Moderate expression |
| MCF7 (breast cancer) | 11.4 | Overexpressed in some lines |
| U87MG (glioblastoma) | 13.7 | High expression; linked to invasiveness |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.274C>T (p.Arg92Cys) | Missense | <0.01% | Reduced binding to dynein; associated with lissencephaly |
| c.449G>A (p.Arg150His) | Missense | <0.01% | Impaired centrosome localization; reported in schizophrenia |
| c.1015_1016insA (p.Thr339Asnfs*2) | Frameshift | <0.01% | Loss of function; truncation of C-terminal domain |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations (e.g., p.Thr339Asnfs*2) lead to truncated protein lacking dynein-binding domain, impairing neuronal migration.
Gain of Function (GOF)
Not well documented; overexpression in cancer may confer gain-of-function via centrosome amplification.
Dominant Negative (DN)
Missense mutations (e.g., p.Arg92Cys) may act dominant-negative by disrupting dynein complex assembly.
View complete mutation data：
Gene Ontology (GO)
Pathways
• REACT:21376 – Dynein-mediated cargo transport
• REACT:111102 – Mitotic spindle organization
• REACT:116909 – Cargo trafficking in the axon
• REACT:21377 – Microtubule-dependent transport
Protein Summary
NDEL1 is a 345-amino-acid protein (UniProt Q9GZM8) containing an N-terminal coiled-coil domain that mediates homodimerization and binding to dynein intermediate chain (DYNC1I2) and lissencephaly-1 (LIS1). It localizes to centrosomes, kinetochores, and the mitotic spindle. NDEL1 phosphorylation by CDK1, Aurora-A, and Cdk5 regulates its activity during mitosis and neuronal migration. The protein is essential for proper nuclear positioning, neurite outgrowth, and synaptic function.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| NDEL1 Knockout HEK293 Cell Line | EDJ-KQ9719 | Human | 81565 | Details Get a Quote |
| NDEL1 Knockout HCT 116 Cell Line | EDJ-KQ35297 | Human | 81565 | Details Get a Quote |
| NDEL1 Knockout A-549 Cell Line | EDJ-KQ36528 | Human | 81565 | Details Get a Quote |
| NDEL1 Knockout HeLa Cell Line | EDJ-KQ36529 | Human | 81565 | Details Get a Quote |
