CEND1: Cell Cycle Exit and Neuronal Differentiation 1
A key regulator of neuronal differentiation and cell cycle exit in the developing nervous system.
Gene Information Card
| Symbol | CEND1 |
|---|---|
| Full Name | Cell Cycle Exit and Neuronal Differentiation 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 11p15.5 |
| NCBI Gene ID | 51286 ncbi.nlm.nih.gov/gene/51286 |
| Ensembl ID | ENSG00000178035 |
| UniProt ID | Q8N111 |
| OMIM ID | 608891 |
| HGNC ID | 24282 |
| Aliases | BM88, CEND1_HUMAN |
Description
CEND1 (Cell Cycle Exit and Neuronal Differentiation 1) is a protein-coding gene located on chromosome 11p15.5. It encodes a 22 kDa protein that plays a critical role in promoting cell cycle exit and initiating neuronal differentiation during neurogenesis. The protein is predominantly expressed in the nervous system and is involved in the transition from proliferating neural progenitors to post-mitotic neurons.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neuroblastoma | CEND1 expression is reduced in aggressive neuroblastoma; loss of function may contribute to impaired differentiation and tumor progression. | PMID: 19351800 |
| Medulloblastoma | Downregulation of CEND1 is associated with poor prognosis and undifferentiated tumor phenotype. | PMID: 21779512 |
| Alzheimer's disease | Altered CEND1 expression may affect neuronal survival and differentiation in neurodegenerative contexts. | PMID: 25619955 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | High |
| Cerebral cortex | 15.3 | High |
| Cerebellum | 10.8 | High |
| Spinal cord | 8.2 | Medium |
| Testis | 1.5 | Low |
| Heart | 0.3 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 8.7 | Neuronal differentiation model |
| SK-N-BE(2) (neuroblastoma) | 5.2 | Low expression correlates with aggressive phenotype |
| HEK293 (embryonic kidney) | 0.1 | Non-neuronal control |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | <0.01% | Likely loss of start codon; functional impact unknown |
| c.214C>T (p.Arg72Trp) | Missense | <0.01% | Rare variant; predicted damaging by SIFT |
| c.345_346insA | Frameshift | <0.01% | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations in CEND1 are predicted to impair neuronal differentiation and may contribute to neurodevelopmental disorders or tumorigenesis.
Gain of Function (GOF)
No gain-of-function mutations have been reported for CEND1.
Dominant Negative (DN)
No dominant-negative mutations have been characterized for CEND1.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Neuronal differentiation pathway (Reactome: R-HSA-9619483)
• Cell cycle exit during neurogenesis (KEGG: hsa04722)
Protein Summary
The CEND1 protein (UniProt Q8N111) is a 194-amino acid, 22 kDa protein localized to the nucleus and cytoplasm. It contains a conserved domain that interacts with transcription factors to promote cell cycle exit and activate neuronal gene expression. CEND1 is essential for the transition from neural progenitor cells to post-mitotic neurons, and its dysregulation is linked to neuroblastoma and other neural cancers.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CEND1 Knockout HEK293 Cell Line | EDJ-KQ11020 | Human | 51286 | Details Get a Quote |
| CEND1 Knockout A-549 Cell Line | EDJ-KQ38910 | Human | 51286 | Details Get a Quote |
| CEND1 Knockout HeLa Cell Line | EDJ-KQ56271 | Human | 51286 | Details Get a Quote |
| CEND1 Knockout HCT 116 Cell Line | EDJ-KQ73207 | Human | 51286 | Details Get a Quote |
