NEUROG1 (Neurogenin 1) Gene
Key Regulator of Neuronal Differentiation and Development
Gene Information Card
| Symbol | NEUROG1 |
|---|---|
| Full Name | Neurogenin 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 5q31.1 |
| NCBI Gene ID | 4762 ncbi.nlm.nih.gov/gene/4762 |
| Ensembl ID | ENSG00000164124 |
| UniProt ID | Q92886 |
| OMIM ID | 601726 |
| HGNC ID | 7764 |
| Aliases | NGN1, bHLHa6, neurogenin 1 |
Description
NEUROG1 (neurogenin 1) is a basic helix-loop-helix (bHLH) transcription factor that plays a critical role in neuronal determination and differentiation. It is essential for the development of sensory neurons in the peripheral nervous system and contributes to neurogenesis in the central nervous system. NEUROG1 activates downstream genes involved in neuronal maturation and subtype specification.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Congenital central hypoventilation syndrome (CCHS) | Loss-of-function mutations in NEUROG1 impair autonomic neuron development, leading to respiratory control deficits. | OMIM #209880; rare variant association studies |
| Hirschsprung disease | NEUROG1 variants may contribute to enteric neuron deficits, though evidence is limited. | Case reports; OMIM #142623 |
| Hearing loss | NEUROG1 is required for inner ear hair cell formation; mutations disrupt auditory neuron development. | Mouse model studies; human genetic association |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Spinal cord | 8.3 | Low |
| Testis | 1.2 | Not detected |
| Lung | 0.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 15.0 | Neuronal differentiation model |
| SK-N-SH (neuroblastoma) | 10.2 | High expression |
| HEK293 (embryonic kidney) | 0.1 | Low/not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.427C>T (p.Arg143Trp) | Missense | Rare | Loss of DNA-binding activity |
| c.532G>A (p.Gly178Arg) | Missense | Rare | Impaired transcriptional activation |
| c.1A>G (p.Met1Val) | Start loss | Very rare | Loss of protein expression |
Mutation functional classification
Loss of Function (LOF)
Missense and start-loss mutations reduce or abolish NEUROG1 transcriptional activity, impairing neuronal differentiation.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Neurogenesis (Reactome: R-HSA-5617472)
• Notch signaling pathway (KEGG: hsa04330)
• Transcriptional regulation of pluripotent stem cells (WikiPathways: WP3997)
Protein Summary
NEUROG1 is a 237-amino acid bHLH transcription factor that forms heterodimers with E proteins (e.g., TCF3) to bind E-box sequences in target gene promoters. It is transiently expressed during embryonic development and is critical for specifying neuronal fate in sensory ganglia, inner ear, and autonomic nervous system. Postnatally, expression is largely restricted to neural stem cell niches.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| NEUROG1 Knockout HEK293 Cell Line | EDJ-KQ5333 | Human | 4762 | Details Get a Quote |
| NEUROG1 Knockout HeLa Cell Line | EDJ-KQ53987 | Human | 4762 | Details Get a Quote |
| NEUROG1 Knockout A-549 Cell Line | EDJ-KQ62478 | Human | 4762 | Details Get a Quote |
| NEUROG1 Knockout HCT 116 Cell Line | EDJ-KQ70945 | Human | 4762 | Details Get a Quote |
