NEDD1
Neural Precursor Cell Expressed, Developmentally Down-Regulated 1
Gene Information Card
| Symbol | NEDD1 |
|---|---|
| Full Name | Neural Precursor Cell Expressed, Developmentally Down-Regulated 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 12q23.1 |
| NCBI Gene ID | 121441 ncbi.nlm.nih.gov/gene/121441 |
| Ensembl ID | ENSG00000139329 |
| UniProt ID | Q8NHV4 |
| OMIM ID | 602544 |
| HGNC ID | 7723 |
| Aliases | GCP-WD, TUBGCP7 |
Description
NEDD1 (Neural Precursor Cell Expressed, Developmentally Down-Regulated 1) encodes a protein that functions as a targeting subunit for the gamma-tubulin ring complex (γ-TuRC), essential for microtubule nucleation at centrosomes and mitotic spindle assembly. It localizes to centrosomes and is required for proper cell division. NEDD1 is also known as GCP-WD (Gamma-tubulin Complex Protein WD repeat).
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Primary microcephaly | Biallelic loss-of-function mutations impair centrosome function and neurogenesis | PMID: 27545674 |
| Breast cancer | Overexpression and amplification contribute to centrosome amplification and aneuploidy | PMID: 20023638 |
| Glioblastoma | Upregulation associated with poor prognosis and tumor progression | PMID: 23334667 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Bone marrow | 8.2 | Low |
| Brain | 6.1 | Low |
| Lung | 5.4 | Low |
| Liver | 4.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 15.3 | Cervical cancer cell line |
| HEK 293 | 12.1 | Embryonic kidney cell line |
| MCF7 | 10.7 | Breast cancer cell line |
| U2OS | 9.8 | Osteosarcoma cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1492C>T (p.Arg498*) | Nonsense | Rare | Loss of function; associated with primary microcephaly |
| c.1108G>A (p.Glu370Lys) | Missense | Rare | Impaired γ-TuRC recruitment to centrosomes |
| Amplification | Copy number gain | Frequent in breast cancer | Overexpression leading to centrosome amplification |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations cause truncated protein, loss of centrosome targeting, and microcephaly.
Gain of Function (GOF)
Gene amplification in cancers leads to increased NEDD1 levels and centrosome abnormalities.
Dominant Negative (DN)
Missense mutations (e.g., p.Glu370Lys) disrupt γ-TuRC binding and act dominant-negatively in centrosome function.
View complete mutation data：
Gene Ontology (GO)
| • centrosome | • gamma-tubulin complex |
| • microtubule nucleation | • spindle assembly |
| • cell division |
Pathways
• Centrosome maturation
• Microtubule nucleation
• Mitotic spindle assembly
Protein Summary
NEDD1 is a 660-amino acid WD40-repeat protein that serves as an adaptor for the γ-tubulin ring complex (γ-TuRC) at centrosomes. It is essential for microtubule nucleation during mitosis and interphase. The protein contains an N-terminal WD40 domain that mediates interaction with other γ-TuRC components and a C-terminal domain required for centrosomal localization. NEDD1 is phosphorylated by CDK1 and Plk1 to regulate its mitotic function.
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