NEURL1: Neuralized E3 Ubiquitin Protein Ligase 1
Key regulator of Notch signaling and neurogenesis
Gene Information Card
| Symbol | NEURL1 |
|---|---|
| Full Name | neuralized E3 ubiquitin protein ligase 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 10q25.1 |
| NCBI Gene ID | 9148 ncbi.nlm.nih.gov/gene/9148 |
| Ensembl ID | ENSG00000107957 |
| UniProt ID | O76050 |
| OMIM ID | 603804 |
| HGNC ID | 7760 |
| Aliases | NEURL, NEURL1A, h-neu, bA416N4.1 |
Description
NEURL1 encodes an E3 ubiquitin ligase that regulates the Notch signaling pathway by promoting the ubiquitination and endocytosis of the Notch ligand Delta. This process is essential for proper neurogenesis, cell fate determination, and development. The protein contains a neuralized homology repeat (NHR) domain and a RING-type zinc finger domain required for ubiquitin ligase activity. NEURL1 is expressed in the nervous system and other tissues, and its dysregulation is implicated in cancer and neurological disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hepatocellular carcinoma | Altered NEURL1 expression may disrupt Notch signaling, contributing to tumorigenesis | PMID: 25910212 |
| Colorectal cancer | NEURL1 promoter methylation and reduced expression associated with poor prognosis | PMID: 27197187 |
| Neurodevelopmental disorders | Mutations in NEURL1 may impair Notch-mediated neuronal differentiation | ClinVar: RCV000022518 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Testis | 8.3 | Low |
| Lung | 5.1 | Low |
| Liver | 3.2 | Not detected |
| Heart | 2.8 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 15.2 | Neuronal model |
| HEK293 (embryonic kidney) | 9.8 | Common cell line |
| HepG2 (hepatocellular carcinoma) | 4.1 | Low expression |
| A549 (lung carcinoma) | 3.5 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1015C>T (p.Arg339Trp) | Missense | <0.01% | Unknown functional impact; reported in ClinVar |
| c.1246G>A (p.Gly416Ser) | Missense | <0.01% | Likely benign |
| c.1489_1490del (p.Leu497fs) | Frameshift | Rare | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations that truncate the RING domain are predicted to abolish E3 ubiquitin ligase activity, impairing Notch signaling.
Gain of Function (GOF)
No gain-of-function mutations have been reported in NEURL1.
Dominant Negative (DN)
Missense mutations in the NHR domain may interfere with Delta binding and act in a dominant-negative manner, but evidence is limited.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Notch signaling pathway (KEGG: hsa04330)
• Ubiquitin mediated proteolysis (KEGG: hsa04120)
Protein Summary
NEURL1 is a 574-amino acid E3 ubiquitin ligase containing an N-terminal neuralized homology repeat (NHR) domain and a C-terminal RING-type zinc finger. It localizes to the cytoplasm and plasma membrane. The protein ubiquitinates the Notch ligand Delta, promoting its endocytosis and activation of Notch signaling in neighboring cells. NEURL1 is critical for neurogenesis, asymmetric cell division, and cell fate specification. Alternative splicing generates multiple isoforms.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| NEURL1 Knockout HEK293 Cell Line | EDJ-KQ6477 | Human | 9148 | Details Get a Quote |
| NEURL1B Knockout HEK293 Cell Line | EDJ-KQ10761 | Human | 54492 | Details Get a Quote |
| NEURL1 Knockout HCT 116 Cell Line | EDJ-KQ30589 | Human | 9148 | Details Get a Quote |
| NEURL1 Knockout HeLa Cell Line | EDJ-KQ30590 | Human | 9148 | Details Get a Quote |
| NEURL1B Knockout A-549 Cell Line | EDJ-KQ39700 | Human | 54492 | Details Get a Quote |
| NEURL1B Knockout HCT 116 Cell Line | EDJ-KQ39701 | Human | 54492 | Details Get a Quote |
| NEURL1B Knockout HeLa Cell Line | EDJ-KQ39702 | Human | 54492 | Details Get a Quote |
| NEURL1 Knockout A-549 Cell Line | EDJ-KQ63571 | Human | 9148 | Details Get a Quote |
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